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Genes are in order of HUGO APPROVED GENE DESIGNATION not alias. e.g. "p53" will be found under "TP53" while "CD40L" or "TNFSF5" will be found under "CD40LG" and so on. If you wish to find an Approved gene symbol please select HGNC Search. If your gene is not in these lists, you may like to check the "Disease Centered", "Mitochondrial Mutations" or "Other mutation Databases" database links as it may be in one of those. If you wish to add an LSDB please go to the LSDB Submission Page Please note that some LSDBs have a Curator vacancy - if you would like to serve please contact the acting curator via that database. |
HGNC GENE SYMBOL |
HGNC gene description | OMIM NO | DATABASE NAME/INTERNET ADDRESS | CURATORS |
|---|---|---|---|---|
| TRBV | T cell receptor beta variable region | \N | IMGT, the international ImMunoGeneTics information system® | Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
| TRAJ | T cell receptor alpha joining region | \N | IMGT, the international ImMunoGeneTics information system® | Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
| TRAV | T cell receptor alpha variable region | \N | IMGT, the international ImMunoGeneTics information system® | Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
| IGHC | Immunoglobulin heavy constant group | \N | IMGT; the international ImMunoGeneTics information system ® | Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
| TRDD | T cell receptor delta diversity region | \N | IMGT, the international ImMunoGeneTics information system® | Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
| TRBD | T cell receptor beta diversity region | \N | IMGT, the international ImMunoGeneTics information system® | Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
| Protein Kinase | multiple protein kinase domains | \N | KinMutBase: A registry of disease-causing mutations in protein kinase domains | Mauno Vihinen, Kaj Stenberg, Univ. of Tampere, Tampere, Finland |
| TRDV | T cell receptor delta variable region | \N | IMGT, the international ImMunoGeneTics information system® | Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
| TRBJ | T cell receptor beta joining region | \N | IMGT, the international ImMunoGeneTics information system® | Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
| RHAG | Rh-associated glycoprotein | 180297 | Blood Group Antigen Mutation Database | Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept. of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A |
| RHCE | Rh blood group, CcEe antigens | 111700 | Blood Group Antigen Mutation Database | Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept. of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A |
| RHD | Rh blood group, D antigen | 111680 | Blood Group Antigen Mutation Database | Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept. of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A |
| RHO | rhodopsin | 180380 | Mutations of the Rhodopsin Gene | Retina International |
| GRK1 | G protein-coupled receptor kinase 1 | 180381 | Mutations of the Rhodopsin Kinase Gene | Retina International |
| OPN1SW | opsin 1 (cone pigments), short-wave-sensitive | 190900 | Mutations of the Photopigments - Red (RCP), Green (GCP), and Blue Cone Pigment (BCP) | Retina International |
| ROM1 | retinal outer segment membrane protein 1 | 180721 | Mutations of the Rod Outer Membrane Proteine 1 (ROM1) Gene | Retina International |
| ROR2 | receptor tyrosine kinase-like orphan receptor 2 | 602337 | ROR2 database at LOVD | Jacopo Celli, LUMC, The Netherlands |
| RP1 | retinitis pigmentosa 1 (autosomal dominant) | 603937 | Mutations of the RP1 Gene | Retina International |
| RP2 | retinitis pigmentosa 2 (X-linked recessive) | 312600 | Mutations of the RP2 Gene | Retina International |
| RP2 | retinitis pigmentosa 2 (X-linked recessive) | 300757 | RP2 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| RPE65 | retinal pigment epithelium-specific protein 65kDa | 180069 | Mutations of the RPE65 Gene | Retina International |
| RPGR | retinitis pigmentosa GTPase regulator | 312610 | Mutations of the Retinitis Pigmentosa GTPase Regulator (RPGR) Gene | Retina International |
| RPGR | retinitis pigmentosa GTPase regulator | 312610 | RPGR @ The Human Genetics Unit Edinburgh U.K. | Xinhua Shu and Alan Wright |
| RPGR | retinitis pigmentosa GTPase regulator | 312610 | RPGR database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| RPL10 | ribosomal protein L10 | 312173 | RPL10 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| RPL11 | ribosomal protein L11 | 604175 | Diamond-Blackfan Anemia, ribosomal protein L11 (RPL11) | Illenia Boria and Ugo Ramenghi |
| RPL35A | ribosomal protein L35a | 180468 | Diamond-Blackfan Anemia, ribosomal protein L35a (RPL35A) | Illenia Boria and Ugo Ramenghi |
| RPL39 | ribosomal protein L39 | 601904 | RPL39 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| RPL36A | ribosomal protein L36a | \N | RPL36A database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| RPL5 | ribosomal protein L5 | 603634 | Diamond-Blackfan Anemia, ribosomal protein L5 (RPL5) | Illenia Boria and Ugo Ramenghi |
| RPS17 | ribosomal protein S17 | 180472 | Diamond-Blackfan Anemia ribosomal protein S17 (RPS17) | Illenia Boria and Ugo Ramenghi |
| BFSP1 | beaded filament structural protein 1, filensin | 603307 | BFSP1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre |
| RPS19 | ribosomal protein S19 | 603474 | Diamond-Blackfan Anemia ribosomal protein S19 (RPS19) | Illenia Boria and Ugo Ramenghi |
| BFSP2 | beaded filament structural protein 2, phakinin | 603212 | Human Intermediate Filament Mutation Database | W.H.I. McLean, Andrew Cassidy, Epithelial Genetics Group, Univ. Department of Human Genetics, Ninewells Hospital in Dundee, UK |
| BFSP2 | beaded filament structural protein 2, phakinin | 603212 | BFSP2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre |
| RPS24 | ribosomal protein S24 | 602412 | Diamond-Blackfan Anemia ribosomal protein S24 (RPS24) | Illenia Boria and Ugo Ramenghi |
| RPS4X | ribosomal protein S4, X-linked | 312760 | RPS4X database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| RPS6KA3 | ribosomal protein S6 kinase, 90kDa, polypeptide 3 | 300075 | Coffin-Lowry Syndrome | University of Strasbourg, France |
| RPS6KA3 | ribosomal protein S6 kinase, 90kDa, polypeptide 3 | 300075 | RPS6KA3 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| RPS6KA6 | ribosomal protein S6 kinase, 90kDa, polypeptide 6 | 300303 | RPS6KA6 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| BGN | biglycan | 301870 | BGN database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| RPS7 | ribosomal protein S7 | 603658 | Diamond-Blackfan Anemia ribosomal protein S7 (RPS7) | Illenia Boria and Ugo Ramenghi |
| RS1 | retinoschisin 1 | 312700 | Mutations of the X-linked Retinoschisis Gene | Retina International |
| RS1 | retinoschisin 1 | 312700 | X-Linked Juvenile Retinoschisis | Markus Preising & Johan den Dunnen, Leiden Univ. Medical Centre, Leiden, The Netherlands |
| RYR1 | ryanodine receptor 1 (skeletal) | 180901 | Leiden Muscular Dystrophy pages | Johan T. den Dunnen Leiden Univ. Med Centre |
| RYR2 | ryanodine receptor 2 (cardiac) | 180902 | Gene Connection for the Heart - Catecholaminergic Polymorphic Ventricular Tachycardia | C. Napolitano, Luciana deGiuli and Andrea Zuanetti, Pavia, Italy |
| SACS | spastic ataxia of Charlevoix-Saguenay (sacsin) | 604490 | SACSIN- Related autosomal recessive ataxia | Bernard Brais, Isabelle Thiffault CHUM Notre-Dame Hospital Montreal, Canada |
| BIN1 | bridging integrator 1 | 601248 | Leiden Muscular Dystrophy pages | Johan T den Dunnen Leiden Univ. Med Centre |
| SAG | S-antigen; retina and pineal gland (arrestin) | 181031 | Mutations of the Arrestin Gene | Retina International |
| BLM | Bloom syndrome, RecQ helicase-like | 604610 | BLMbase: Mutation registry for Bloom Syndrome | Mauno Vihinen, Univ. of Tampere, Finland |
| SCML2 | sex comb on midleg-like 2 (Drosophila) | 300208 | SCML2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SCN4A | sodium channel, voltage-gated, type IV, alpha subunit | 603967 | SCN4A at LOVD | Ieke Ginjaar & Vincent Janmaat, LUMC, Leiden, The Netherlands |
| SCN4B | sodium channel, voltage-gated, type IV, beta | 608256 | Zhejiang University-Adinovo Center SCN4B Database | Ming Qi, PhD, FACMG, Peikuan Cong, Yudong Gao and Tao Zhang |
| SCN5A | sodium channel, voltage-gated, type V, alpha subunit | 600163 | Long QT Syndrome mutation database | Michael Christiansen, Lars A. Larsen, Paal Skytt Andersen, Molecular Cardiology grp, Statens Serum Institut, Copenhagen, Denmark |
| SCN5A | sodium channel, voltage-gated, type V, alpha subunit | 600163 | Gene Connection for the Heart | P. Brugada, Alalst, Belgium; J. Brugada, Banyoles, Spain; R. Brugada, Houston, Texas, U.S.A.; A.A.M. Wilde Amsterdam, The Netherlands |
| SCN5A | sodium channel, voltage-gated, type V, alpha subunit | 600163 | Zhejiang University-Adinovo Center SCN5A Database | Ming Qi, PhD, FACMG, Peikuan Cong and Yudong Gao |
| SCNN1A | sodium channel, nonvoltage-gated 1 alpha | 600228 | SCNN1A Database at LOVD | Azad AK Ontario Cancer Institute, Toronto, Canada |
| SCNN1B | sodium channel, nonvoltage-gated 1, beta | 600760 | SCNN1B Database at LOVD | Azad AK Ontario Cancer Institute, Toronto, Canada |
| SCNN1G | sodium channel, nonvoltage-gated 1, gamma | 600761 | SCNN1G Database at LOVD | Azad AK Ontario Cancer Institute, Toronto, Canada |
| BMP1 | bone morphogenetic protein 1 | 112264 | Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants | Raymond Dalgleish |
| BMP15 | bone morphogenetic protein 15 | 300247 | BMP15 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SDHA | succinate dehydrogenase complex, subunit A, flavoprotein (Fp) | 600857 | TCA Cycle Gene Mutation Database -SDHA | J.P.L. Bayley, Peter E.M. Taschner, Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands |
| SDHB | succinate dehydrogenase complex, subunit B, iron sulfur (Ip) | 185470 | TCA Cycle Gene Mutation Database -SDHB | J.P.L. Bayley, Peter E.M. Taschner, Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands |
| SDHC | succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa | 602413 | TCA Cycle Gene Mutation Database -SDHC | J.P.L. Bayley, Peter E.M. Taschner, Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands |
| SDHD | succinate dehydrogenase complex, subunit D, integral membrane protein | 602690 | TCA Cycle Gene Mutation Database -SDHD | J.P.L. Bayley, Peter E.M. Taschner, Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands |
| BMPR2 | bone morphogenetic protein receptor, type II (serine/threonine kinase) | 600799 | Hereditary Pulmonary Arterial Hypertension and BMPR2 Gene Database | Kelli Sumner, University of Utah, ARUP Laboratories |
| BMX | BMX non-receptor tyrosine kinase | 300101 | BMX database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ACHE | acetylcholinesterase (Yt blood group) | 100740 | Blood Group Antigen Mutation Database | Olga O. Blumenfeld Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A |
| SGCA | sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) | 600119 | Leiden Muscular Dystrophy Pages | Johan T. den Dunnen, Leiden Univ.Med Centre, Leiden, The Netherlands |
| SGCB | sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) | 600900 | Leiden Muscular Dystrophy Pages | Johan T. den Dunnen, Leiden Univ.Med Centre, Leiden, The Netherlands |
| SGCD | sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) | 601411 | Leiden Muscular Dystrophy Pages | Johan T. den Dunnen, Leiden Univ.Med Centre, Leiden, The Netherlands |
| SGCE | sarcoglycan, epsilon | 604149 | Leiden Muscular Dystrophy Pages | Johan T. den Dunnen, Leiden Univ. Med Centre, Leiden, The Netherlands |
| SGCG | sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) | 608896 | Leiden Muscular Dystrophy Pages | Johan T. den Dunnen, Leiden Univ. Med Centre, Leiden, The Netherlands |
| SH2D1A | SH2 domain containing 1A | 300490 | CCHMC - Human Genetics Mutation Database | Ammar Husami and Theru A. Sivakumaran |
| SH2D1A | SH2 domain containing 1A | 300490 | SH2D1Abase: Mutation registry for X-linked lymphoproliferative syndrome (XLP) | Luigi D. Notarangelo, Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| SHOX | short stature homeobox | 312865 | SHOX database at Heidelberg University | Steffi Wilke, Dr. Beate Niesler, Ralph Roeth and Prof. Gudrun Rappold |
| SLC12A6 | solute carrier family 12 (potassium/chloride transporters), member 6 | 604878 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
| SLC14A1 | solute carrier family 14 (urea transporter), member 1 (Kidd blood group) | 111000 | Blood Group Antigen Mutation Database | Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept. of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A |
| FOXL2 | forkhead box L2 | 605597 | The Human FOXL2 Allelic Variant Database | Diane Beysen, Elfride de Baere, Centre for Medical Genetics, Gent, Belgium |
| SLC16A2 | solute carrier family 16, member 2 (monocarboxylic acid transporter 8) | 300095 | SLC16A2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SLC19A2 | Solute carrier family 19 (thiamine transporter), member 2 | 603941 | EURO-WABB Project Open Variation Database | Dewi Astuti, Susan McAfferty |
| SLC22A5 | solute carrier family 22 (organic cation/carnitine transporter), member 5 | 603377 | Primary Carnitine Deficiency (OCTN2) and SLC22A5 gene Database | Fernanda Calderon, MS, ARUP Institute for Clinical and Experimental Pathology(r), Salt Lake City, UT, USA |
| SLC25A13 | solute carrier family 25, member 13 (citrin) | 603859 | SLC25A13 | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SLC25A14 | solute carrier family 25 (mitochondrial carrier, brain), member 14 | 300242 | SLC25A14 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SLC25A15 | solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 | 603861 | SLC25A15 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SLC25A5 | solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 | 300150 | SLC25A5 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SLC25A6 | solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 | 403000 | SLC25A6 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| BRCA1 | breast cancer 1, early onset | 113705 | Breast Cancer | Lawrence C. Brody & Breast Cancer Information Core NCHGR/NIH Bethesda, U.S.A. |
| BRCA1 | breast cancer 1, early onset | 113705 | The UMD BRCA1 mutations database | R. Lidereau |
| BRCA1 | breast cancer 1, early onset | 113705 | Zhejiang University-Adinovo Center BRCA1 Database | Ming Qi, PhD, FACMG, Peikuan Cong and Min Pan |
| BRCA1 | breast cancer 1, early onset | 113705 | LOVD - BReast CAncer 1 - literature unclassified variants (BRCA1) | Maaike Vreeswijk and Peter Devilee |
| BRCA2 | breast cancer 2, early onset | 600185 | Breast Cancer | Lawrence C. Brody & Breast Cancer Information Core NCHGR/NIH Bethesda, U.S.A. |
| BRCA2 | breast cancer 2, early onset | 600185 | Fanconi Anaemia Mutation Database | Arleen Auerbach, Rockefeller University, New York, USA |
| BRCA2 | breast cancer 2, early onset | 600185 | Zhejiang University-Adinovo Center BRCA2 Database | Ming Qi, PhD, FACMG, Peikuan Cong and Min Pan |
| BRCA2 | breast cancer 2, early onset | 600185 | LOVD - BReast CAncer 2 - literature unclassified variants (BRCA2) | Maaike Vreeswijk and Peter Devilee |
| SLC4A1 | solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) | 109270 | Blood Group Antigen Mutation Database | Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept. of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A |
| SLC6A14 | solute carrier family 6 (amino acid transporter), member 14 | 300444 | SLC6A14 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SLC6A3 | solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 | 126455 | SLC6A3 database at LOVD | Dr Manju Kurian and Dr. Derek Lim |
| SLC6A5 | solute carrier family 6 (neurotransmitter transporter, glycine), member 5 | 604159 | SLC6A5 database at LOVD | Vincent Janmaat |
| SLC6A8 | solute carrier family 6 (neurotransmitter transporter, creatine), member 8 | 300036 | Creatine transporter: solute carrier family 6 (neurotransmitter transporter (SLC6A8) Variation Database | Gajja Salomons |
| SLC7A3 | solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 | 300443 | SLC7A3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SLC9A6 | solute carrier family 9 (sodium/hydrogen exchanger), member 6 | 300231 | SLC9A6 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SMARCA1 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 | 300012 | SMARCA1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SMARCAL1 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 | 606622 | SMARCAL1base: Mutation registry for Schimke immuno-osseous dysplasia | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| ARID1A | AT rich interactive domain 1A (SWI-like) | 603024 | ARID1A database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SMC1A | structural maintenance of chromosomes 1A | 300040 | SMC1A database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| KDM5C | lysine (K)-specific demethylase 5C | 314690 | KDM5C database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SMN1 | survival of motor neuron 1, telomeric | 600354 | SMN1 - Spinal Muscular Atrophy (SMA) | Johan T. den Dunnen, Leiden Univ.Med Centre, Leiden, The Netherlands |
| SMS | spermine synthase | 300105 | SMS database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SNCA | synuclein, alpha (non A4 component of amyloid precursor) | 163890 | SNCA Parkinson's disease Mutation Database | The Parkinson's Institute |
| SNCA | synuclein, alpha (non A4 component of amyloid precursor) | 163890 | Alpha - Synuclein Locus Mutation Database | Aglaia Athanassiadou, Spyridon Papapetropoulos, Gerassimos Karousos, Univ. of Patras,Greece; Mihael Polymeropoulos, Novartis Pharmaceuticals, Gaithersburg,USA |
| BSG | basigin (Ok blood group) | 109480 | Blood Group Antigen Mutation Database | Olga O. Blumenfeld Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A |
| SNTA1 | syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component) | 601017 | Zhejiang University-Adinovo Center SNTA1 Database | Ming Qi, PhD, FACMG, Peikuan Cong, Yudong Gao and Tao Zhang |
| SOD1 | superoxide dismutase 1, soluble | 147450 | alsod.orgAn online database for ALS/SOD1 genetic mutations | ALS/SOD1 consortium |
| SOX10 | SRY (sex determining region Y)-box 10 | 602229 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis Molecular Genetics Department; Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
| SOX10 | SRY (sex determining region Y)-box 10 | 602229 | SOX10 database at LOVD | Veronique Pingault Laboratoire de Biochimie et Génétique, Hopital Henri Mondor Creteil cedex, France |
| SOX2 | SRY (sex determining region Y)-box 2 | 184429 | SOX2 database at MRC Human Genetics Unit | Graeme Grimes, Isabel Hanson, David FitzPatrick, Kathy Williamson and Veronica van Heyningen |
| SOX3 | SRY (sex determining region Y)-box 3 | 313430 | SOX3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| BTD | biotinidase | 609019 | Biotinidase Deficiency and BTD gene Database | Melinda Procter, University of Utah, ARUP Laboratories |
| SPINK1 | serine peptidase inhibitor, Kazal type 1 | 167790 | Database of genetic variants in patients with chronic pancreatitis | Niels Teich, Universität Leipzig, Medizinische Klinik und Poliklinik IID-04103 Leipzig, Germany |
| SPR | sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) | 182125 | BIOMDB Database of Mutations Causing Tetrahydrobiopterin Deficiencies and PND | Nenad Blau, Beat Thony, Gajja Salomons, Support by Swiss National Science Foundation |
| SPTLC1 | serine palmitoyltransferase, long chain base subunit 1 | 605712 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
| SRPX | sushi-repeat-containing protein, X-linked | 300187 | SRPX database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SSPN | sarcospan | 601599 | Leiden Muscular Dystrophy pages | Johan T den Dunnen Leiden Univ. Med Centre |
| BTK | Bruton agammaglobulinemia tyrosine kinase | 300300 | BTK base: Mutation registry for X-linked agammaglobulinemia | Mauno Vihinen, C.I. Edvard Smith, Univ. of Tampere, Finland |
| BTK | Bruton agammaglobulinemia tyrosine kinase | 300300 | BTK database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SSX1 | synovial sarcoma, X breakpoint 1 | 312820 | SSX1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SSX3 | synovial sarcoma, X breakpoint 3 | 300325 | SSX3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SSX5 | synovial sarcoma, X breakpoint 5 | 300327 | SSX5 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| STAT1 | signal transducer and activator of transcription 1, 91kDa | 600555 | STAT1base: Mutation registry for STAT1 deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| STAT5B | signal transducer and activator of transcription 5B | 604260 | STAT5Bbase: Mutation registry for Growth hormone insensitivity with immunodeficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| STAT5B | signal transducer and activator of transcription 5B | 604260 | LOVD growth | R Rosenfeld and V Hwa |
| SRPK3 | SFRS protein kinase 3 | \N | SRPK3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CDKL5 | cyclin-dependent kinase-like 5 | 300203 | CDKL5 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| STX11 | syntaxin 11 | 605014 | **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database | Ammar Husami and Theru A. Sivakumaran |
| STX11 | syntaxin 11 | 605014 | STX11base: Mutation registry for Familial haemophagocytic lymphohistiocytosis 4 (FHL4) | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| STXBP2 | syntaxin binding protein 2 | 601717 | CCHMC - Human Genetics Mutation Database | Ammar Husami and Theru A. Sivakumaran |
| SUV39H1 | suppressor of variegation 3-9 homolog 1 (Drosophila) | 300254 | SUV39H1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| VAMP7 | vesicle-associated membrane protein 7 | 300053 | VAMP7 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SYN1 | synapsin I | 313440 | SYN1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SYP | synaptophysin | 313475 | SYP database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| EPCAM | epithelial cell adhesion molecule | 185535 | InSiGHT - EPCAM | Michael Woods, Amanda Dohey and Johan den Dunnen |
| TAF1 | TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa | 313650 | TAF1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TAF7L | TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa | 300314 | TAF7L database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TAPBP | TAP binding protein (tapasin) | 601962 | TAPBPbase: Mutation registry for Tapasin deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| TARDBP | TAR DNA binding protein | 605078 | Alzheimer Disease & Frontotemporal Dementia Mutation Database | Marc Cruts & Nathalie Brouwers Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
| TAZ | tafazzin | 300394 | TAZbase: Mutation registry for Barth syndrome | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| TAZ | tafazzin | 300394 | Human Tafazzin (TAZ) Gene Mutation & Variation Database | Iris L. Gonzalez, Ph.D., U.S.A. |
| SERPINA7 | serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 | 314200 | SERPINA7 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TBX22 | T-box 22 | 300307 | TBX22 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TBXAS1 | thromboxane A synthase 1 (platelet) | 274180 | Human Cytochrome P450 (CYP) Allele Nomenclature Committee | Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
| TCAP | titin-cap (telethonin) | 604488 | Leiden Muscular Dystrophy Pages | Johan T. den Dunnen, Leiden Univ. Medical Centre, Leiden, The Netherlands |
| HNF1A | HNF1 homeobox A | 142410 | HNF1A at LOVD | Monique Losekoot, LUMC, Leiden, Netherlands |
| TCF4 | transcription factor 4 | 602272 | TCF4 database at LOVD | Johan T. den Dunnen, Leiden Univ. Medical Centre, Leiden, The Netherlands & TCF4 Curator |
| TCIRG1 | T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 | 604592 | TCIRG1base: Mutation registry for autosomal recessive osteopetrosis | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| TCN2 | transcobalamin II; macrocytic anemia | 275350 | TCN2base: Mutation registry for Transcobalamin II deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| TCOF1 | Treacher Collins-Franceschetti syndrome 1 | 606847 | TCOF1 mutation database | A. Splendore, Dept. of Genetics, B203 Beckman Center, Stanford University |
| DYNLT3 | dynein, light chain, Tctex-type 3 | 300302 | DYNLT3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TECTA | tectorin alpha | 602574 | Hereditary Hearing Loss Homepage | Guy van Camp, Univ. of Antwerp, Antwerp, Belgium; Richard J.H. Smith, Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A |
| TERC | telomerase RNA component | 602322 | The Telomerase Database | Julian J-L Chen at Arizona State University |
| TERT | telomerase reverse transcriptase | 187270 | The Telomerase Database | Julian J-L Chen at Arizona State University |
| TEX11 | testis expressed 11 | 300311 | TEX11 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TEX13A | testis expressed 13A | 300312 | TEX13A database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TEX13B | testis expressed 13B | 300313 | TEX13B database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TFE3 | transcription factor binding to IGHM enhancer 3 | 314310 | TFE3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TGFB3 | transforming growth factor, beta 3 | 190230 | ARVD/C Genetic Variants Database | Paul van der Zwaag |
| TGFB3 | transforming growth factor, beta 3 | 190230 | ARVD/C Genes Variants Database | Paul van der Zwaag, Jan Jongbloed and Peter van Tintelen, Dept. of Genetics, Univ Med Center, Groningen, The Netherlands |
| TGFBR2 | transforming growth factor, beta receptor II (70/80kDa) | 190182 | The UMD TGFBR2 mutations database | G. Collod-Béroud |
| TH | tyrosine hydroxylase | 191290 | BIOMDB Database of Mutations Causing Tetrahydrobiopterin Deficiencies and PND | Nenad Blau, Beat Thony, Gajja Salomons, Support by Swiss National Science Foundation |
| TIMP1 | TIMP metallopeptidase inhibitor 1 | 305370 | TIMP1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TIMP3 | TIMP metallopeptidase inhibitor 3 | 188826 | Mutations of the Tissue Inhibitor of Metalloproteases 3 Gene | Retina International |
| TINF2 | TERF1 (TRF1)-interacting nuclear factor 2 | 604319 | The Telomerase Database | Julian J-L Chen at Arizona State University |
| TSPAN6 | tetraspanin 6 | 300191 | TSPAN6 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TMPRSS3 | transmembrane protease, serine 3 | 605511 | Hereditary Hearing Loss Homepage | Guy van Camp, Univ. of Antwerp, Antwerp, Belgium; Richard J.H. Smith, Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A |
| TMPRSS3 | transmembrane protease, serine 3 | 605511 | CCHMC - Human Genetics Mutation Database | Ammar Husami and Theru A. Sivakumaran |
| TNFRSF1A | tumor necrosis factor receptor superfamily, member 1A | 191190 | INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations | Ivona Aksentijevich, ARB, NIAMS/NIH, Bethesda, USA |
| CD40 | CD40 molecule, TNF receptor superfamily member 5 | 109535 | CD40base: Mutation registry for CD40 deficiency (previously known as TNFRSF5base) | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| FAS | Fas (TNF receptor superfamily, member 6) | 134637 | Autoimmune Lymphoproliferative Syndrome Database (ALPSbase): Database of mutations causing human ALPS | Jennifer Puck, Stephen Straus, Michael Lenardo, Janet Dale, Joie Davis, Lilia Lei Bi, Jin Wang, NIAID & NHGRI, NIH, U.S.A. |
| FAS | Fas (TNF receptor superfamily, member 6) | 134637 | CCHMC - Human Genetics Mutation Database | Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
| CD40LG | CD40 ligand | 300386 | CCHMC - Human Genetics Mutation Database | Ammar Husami and Theru A. Sivakumaran |
| CD40LG | CD40 ligand | 300386 | CD40Lbase: Mutation registry for X-linked Hyper-IgM syndrome | Luigi D. Notarangelo, Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| CD40LG | CD40 ligand | 300386 | Immunodeficiency with Increased IgM-The European CD40 Defect Database | European Society for Immuno deficiencies |
| CD40LG | CD40 ligand | 300386 | CD40LG database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| FASLG | Fas ligand (TNF superfamily, member 6) | 134638 | FASLGbase: Mutation registry for Autoimmune lymphoproliferative syndrome, type 1B (ALPS1B) (previously known as TNFSF6base) | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| FASLG | Fas ligand (TNF superfamily, member 6) | 134638 | CCHMC - Human Genetics Mutation Database | Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
| TNNI2 | troponin I type 2 (skeletal, fast) | 191043 | Leiden Muscular Dystrophy Pages | Tom Winder & Johan den Dunnen |
| TNNI3 | troponin I type 3 (cardiac) | 191044 | FHC Mutation Database | Bing Yu, Ronald J. Trent, Dept. Mol & Clin Genet.Royal Prince Alfred Hosp.Sydney, Australia |
| TNNI3 | troponin I type 3 (cardiac) | 191044 | Sarcomere Protein Gene Mutation Database | NHLBI Program for Genomic Applications, Harvard Medical School, Boston, USA |
| TNNT1 | troponin T type 1 (skeletal, slow) | 191041 | Leiden Muscular Dystrophy pages | Johan T. den Dunnen Leiden Univ. Med Centre |
| TNNT2 | troponin T type 2 (cardiac) | 191045 | Sarcomere Protein Gene Mutation Database | NHLBI Program for Genomic Applications, Harvard Medical School, Boston, USA |
| TNNT2 | troponin T type 2 (cardiac) | 191045 | FHC Mutation Database | Bing Yu, Ronald J. Trent, Dept. Mol & Clin Genet.Royal Prince Alfred Hosp.Sydney, Australia |
| TNNT3 | troponin T type 3 (skeletal, fast) | 600692 | Leiden Muscular Dystrophy pages | Johan T. den Dunnen Leiden Univ. Med Centre |
| MED12 | mediator complex subunit 12 | 300188 | MED12 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| GIGYF2 | GRB10 interacting GYF protein 2 | 612003 | PARK11 Parkinson's disease Mutation Database | The Parkinson's Institute |
| TP53 | tumor protein p53 | 191170 | Database of Germline p53 Mutations | Zdenek Sedlacek & Marie Trkova, Charles Univ. Prague, Czech Republic |
| TP53 | tumor protein p53 | 191170 | p53 Mutation Database Analysis & Search | Human Genome Centre, Tokyo, Japan |
| TP53 | tumor protein p53 | 191170 | The UMD TP53 mutation database | Thierry Soussi (Karolinska Institute) |
| TP53 | tumor protein p53 | 191170 | IARC TP53 Mutation Database: Human somatic and germline TP53 mutations compiled from the literature | M. Olivier, R. Eeles, M. Hollstein, C. C. Harris, P. Hainaut, IARC, Lyon, France |
| TP53 | tumor protein p53 | 191170 | p53 Mutation in Human Cancer | Thierry Soussi (Karolinska Institute) |
| TPM1 | tropomyosin 1 (alpha) | 191010 | FHC Mutation Database | Bing Yu, Ronald J. Trent, Dept. Mol & Clin Genet.Royal Prince Alfred Hosp.Sydney, Australia |
| TPM1 | tropomyosin 1 (alpha) | 191010 | Sarcomere Protein Gene Mutation Database | NHLBI Program for Genomic Applications, Harvard Medical School, Boston, USA |
| TPM2 | tropomyosin 2 (beta) | 190990 | Leiden Muscular Dystrophy Pages | Tom Winder & Johan den Dunnen |
| TPM3 | tropomyosin 3 | 191030 | Leiden Muscular Dystrophy Pages | Johan den Dunnen and Tom Winder |
| TRA@ | T cell receptor alpha locus | 186880 | IMGT, the international ImMunoGeneTics information system® | Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
| TRB@ | T cell receptor beta locus | 186930 | IMGT, the international ImMunoGeneTics information system® | Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
| TRD@ | T cell receptor delta locus | 186810 | IMGT, the international ImMunoGeneTics information system® | Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
| TRD@ | T cell receptor delta locus | 186810 | IMGT, the international ImMunoGeneTics information system® | Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
| TREX1 | three prime repair exonuclease 1 | 606609 | TREX1 database at LOVD | Boukje de Vries, LUMC, Leiden, Nederland |
| SERPING1 | serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 | 606860 | SERPING1base: Mutation registry for Hereditary angioedema | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| TRO | trophinin | 300132 | TRO database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TRPC5 | transient receptor potential cation channel, subfamily C, member 5 | 300334 | TRPC5 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TSC1 | tuberous sclerosis 1 | 605284 | TSC Mutation Database | Sue Povey & Rosemary Ekong, Galton Laboratory, Biology, University |
| TSC2 | tuberous sclerosis 2 | 191092 | TSC2 Mutation Database | Sue Povey & Rosemary Ekong, Galton Laboratory, Biology, University |
| TSHR | thyroid stimulating hormone receptor | 603372 | TSH Receptor mutation database | Ralf Paschke, Department of Internal Medicine III, University of Leipzig, Germany |
| MYOT | myotilin | 604103 | Leiden Muscular Dystrophy pages | Johan den Dunnen |
| TTN | titin | 188840 | Leiden Muscular Dystrophy Pages | Johan T. den Dunnen, Leiden Univ.Med Centre, Leiden, The Netherlands |
| TTN | titin | 188840 | FHC Mutation Database | Bing Yu, Ronald J. Trent, Dept. Mol & Clin Genet., Royal Prince Alfred Hosp. Sydney, Australia |
| TTR | transthyretin | 176300 | Database on Transthyretin Mutations | Maria João Mascarenhas Saraiva, Amyloid Unit, Institute of Molecular & Cellular Biology, Porto, Portugal |
| C1QA | complement component 1, q subcomponent, A chain | 120550 | C1QAbase: Mutation registry for C1qA deficiency | Mauno Vihinen, Univ. of Tampere, Finland |
| C1QA | complement component 1, q subcomponent, A chain | 120550 | C1QAbase: Mutation registry for C1qA deficiency | Mauno Vihinen, Univ. of Tampere, Finland |
| C1QB | complement component 1, q subcomponent, B chain | 120570 | C1QBbase: Mutation registry for C1qB deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| TULP1 | tubby like protein 1 | 602280 | Mutations of the Tubby-like Protein 1 Gene | Retina International |
| TYK2 | tyrosine kinase 2 | 176941 | TYK2base: Mutation registry for TYK2 deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| TYR | tyrosinase (oculocutaneous albinism IA) | 606933 | Albinism Database | William S. Oetting, Int. Albinism Centre, Univ. of Minnesota, USA |
| TYR | tyrosinase (oculocutaneous albinism IA) | 606933 | Mutations of the Tyrosinase Gene | Retina International |
| C1QC | complement component 1, q subcomponent, C chain | 120575 | C1QGbase: Mutation registry for C1qG deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| TYRP1 | tyrosinase-related protein 1 | 115501 | Mutations of the Tyrosinase-related Protein 1 Gene | Retina International |
| TYRP1 | tyrosinase-related protein 1 | 115501 | Albinism Database | William S. Oetting, Int. Albinism Centre, Univ. of Minnesota, U.S.A. |
| UBA1 | ubiquitin-like modifier activating enzyme 1 | 314370 | UBA1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| C1S | complement component 1, s subcomponent | 120580 | C1Sbase: Mutation registry for C1s deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| UBE2A | ubiquitin-conjugating enzyme E2A (RAD6 homolog) | 312180 | UBE2A database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| C2 | complement component 2 | 217000 | C2base: Mutation registry for C2 deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| UBE3A | ubiquitin protein ligase E3A | 601623 | NGRL, Manchester LOVD | Bharathi Kattamuri and Simon Ramsden |
| UBQLN2 | ubiquilin 2 | 300264 | UBQLN2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| UNC119 | unc-119 homolog (C. elegans) | 604011 | Mutations of HRG4 | Retina International |
| UNG | uracil-DNA glycosylase | 191525 | UNGbase: Mutation registry for UNG deficiency (Hyper-IgM syndrome, type 5) | Anne Durandy and Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| USH1C | Usher syndrome 1C (autosomal recessive, severe) | 605242 | The UMD USH1C mutations database | A.-F. Roux and D. Baux |
| USH1C | Usher syndrome 1C (autosomal recessive, severe) | 605242 | Retinal and hearing impairment genetic mutation database USH1C | David Baux |
| USH1C | Usher syndrome 1C (autosomal recessive, severe) | 605242 | **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database | Ammar Husami and Theru A. Sivakumaran |
| USH1C | Usher syndrome 1C (autosomal recessive, severe) | 605242 | Mutations of the Harmonin Gene | Retina International |
| USH2A | Usher syndrome 2A (autosomal recessive, mild) | 608400 | Mutations of the USH2a Gene | Retina International |
| USH2A | Usher syndrome 2A (autosomal recessive, mild) | 608400 | The UMD USH2A mutations database | A.-F. Roux and D. Baux |
| USH2A | Usher syndrome 2A (autosomal recessive, mild) | 608400 | Retinal and hearing impairment genetic mutation database USH2A | David Baux |
| USH2A | Usher syndrome 2A (autosomal recessive, mild) | 608400 | **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database | Ammar Husami and Theru A. Sivakumaran |
| CLRN1 | clarin 1 | 606397 | Retinal and hearing impairment genetic mutation database | David Baux |
| CLRN1 | clarin 1 | 606397 | CCHMC - Human Genetics Mutation Database | Ammar Husami and Theru A. Sivakumaran |
| CLRN1 | clarin 1 | 606397 | Mutations of the Usher Syndrome Type 3 Gene (USH3) | Retina International |
| CLRN1 | clarin 1 | 606397 | The UMD USH3A mutations database | A.-F. Roux and D. Baux |
| USP11 | ubiquitin specific peptidase 11 | 300050 | USP11 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| USP9X | ubiquitin specific peptidase 9, X-linked | 300072 | USP9X database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| KDM6A | lysine (K)-specific demethylase 6A | 300128 | KDM6A database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| VBP1 | von Hippel-Lindau binding protein 1 | 300133 | VBP1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| VCP | valosin-containing protein | 601023 | Leiden Muscular Dystrophy pages | Johan T den Dunnen Leiden Univ. Med Centre |
| VCP | valosin containing protein | 601023 | Alzheimer Disease & Frontotemporal Dementia Mutation Database | Marc Cruts & Nathalie Brouwers Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
| VHL | von Hippel-Lindau tumor suppressor | 608537 | The UMD VHL mutations database | Christophe Beroud, Laboratoire de génétique Moléculaire et Chromosomique, Montpellier, France |
| VIM | vimentin | 193060 | VIM database at LOVD | Johan T den Dunnen Leiden Univ. Med Centre |
| BEST1 | bestrophin 1 | 607854 | University of Regensburg BEST1 database | Heidi L. Schulz, Inst. of Human Genetics, University of Regensburg, Germany |
| BEST1 | bestrophin 1 | 607854 | Mutations of the Bestrophin Gene | Retina International |
| VWF | von Willebrand factor | 193400 | Von Willebrand Factor Database | Dan Hampshire, The University of Sheffield, Sheffield, UK |
| VWF | von Willebrand factor | 193400 | VWF Mutation Registry at Hemobase | Francisco Vidal, Irene Corrales |
| WAS | Wiskott-Aldrich syndrome (eczema-thrombocytopenia) | 300392 | CCHMC - Human Genetics Mutation Database | Ammar Husami and Theru A. Sivakumaran |
| WAS | Wiskott-Aldrich syndrome (eczema-thrombocytopenia) | 300392 | WASbase: Mutation registry for Wiskott-Aldrich syndrome (WAS) | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| WFS1 | Wolfram syndrome 1 (wolframin) | 606201 | EURO-WABB Project Open Variation Database | Dewi Astuti |
| WFS1 | Wolfram syndrome 1 (wolframin) | 606201 | Hereditary Hearing Loss Homepage | Guy van Camp, Univ. of Antwerp, Antwerp, Belgium; Richard J.H. Smith, Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A |
| WFS1 | Wolfram syndrome 1 (wolframin) | 606201 | CCHMC - Human Genetics Mutation Database | Ammar Husami and Theru A. Sivakumaran |
| FOXN1 | forkhead box N1 | 600838 | FOXN1base: Mutation registry for T-cell immunodeficiency, congenital alopecia, and nail dystrophy (Previously known as WHNbase) | Mauno Vihinen & Claudio Pignata, Univ. of Tampere, Tampere, Finland |
| WRN | Werner syndrome, RecQ helicase-like | 604611 | Database of WS-associated WRN mutations | International Registry of Werner Syndrome, George M. Martin, Junko Oshima & Dru F. Leistritz, Department of Pathology, University of Washington, Seattle, USA |
| XG | Xg blood group | 314700 | XG database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| XK | X-linked Kx blood group (McLeod syndrome) | 314850 | Blood Group Antigen Mutation Database | Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept. of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A |
| XK | X-linked Kx blood group (McLeod syndrome) | 314850 | XK database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| XPNPEP2 | X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound | 300145 | XPNPEP2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ZAP70 | zeta-chain (TCR) associated protein kinase 70kDa | 176947 | ZAP70base: Mutation registry for autosomal recessive ZAP70 immunodeficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| ZFX | zinc finger protein, X-linked | 314980 | ZFX database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ZMPSTE24 | zinc metallopeptidase (STE24 homolog, S. cerevisiae) | 606480 | Leiden Muscular Dystrophy Pages | Johan T. den Dunnen, Leiden Univ.Med Centre, Leiden, The Netherlands |
| ACTA1 | actin, alpha 1, skeletal muscle | 102610 | Leiden Muscular Dystrophy pages | Kristen Nowak and Nigel Laing |
| ACTA1 | actin, alpha 1, skeletal muscle | 102610 | Laing Laboratory Skeletal muscle alpha-actin (ACTA1) | Nigel Laing and Kristen Nowak |
| RNF113A | ring finger protein 113A | \N | RNF113A database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ZNF185 | zinc finger protein 185 (LIM domain) | 300381 | ZNF185 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ZNF182 | zinc finger protein 182 | 314993 | ZNF182 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ZMYM3 | zinc finger, MYM-type 3 | 300061 | ZMYM3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ZNF41 | zinc finger protein 41 | 314995 | ZNF41 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ZNF711 | zinc finger protein 711 | 314990 | ZNF711 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ZNF75D | zinc finger protein 75D | 314997 | Mental Retardation database | Ing. Ivo F.A.C. Fokkema |
| ZNF81 | zinc finger protein 81 | 314998 | ZNF81 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| C3 | complement component 3 | 120700 | C3base: Mutation registry for C3 deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| ZXDA | zinc finger, X-linked, duplicated A | 300235 | ZXDA database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| AICDA | activation-induced cytidine deaminase | 605257 | AICDA base: Mutation registry for Aid deficiency | Anne Durandy, Mauno Vihinen, Univ. of Tampere, Finland |
| ARL6 | ADP-ribosylation factor-like 6 | 608845 | EURO-WABB Open Variation Database | Dewi Astuti |
| BCL11A | B-cell CLL/lymphoma 11A (zinc finger protein) | 606557 | B-cell CLL/lymphoma 11A (BCL11A) database | Belinda Giardine and Joseph Borg |
| FTSJ1 | FtsJ homolog 1 (E. coli) | 300499 | FTSJ1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| C5 | complement component 5 | 120900 | C5base: Mutation registry for C5 deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| HDAC8 | histone deacetylase 8 | 300269 | HDAC8 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| KIF4A | kinesin family member 4A | 300521 | KIF4A database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| C6 | complement component 6 | 217050 | C6base: Mutation registry for C6 deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| NSDHL | NAD(P) dependent steroid dehydrogenase-like | 300275 | NSDHL database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PPP2R3B | protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta | 300339 | PPP2R3B database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| RLIM | ring finger protein, LIM domain interacting | 300379 | RLIM database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| RPGRIP1 | retinitis pigmentosa GTPase regulator interacting protein 1 | 605446 | Mutations of the Retinitis Pigmentosa GTPase Regulator Interacting Protein Gene | Retina International |
| SLITRK2 | SLIT and NTRK-like family, member 2 | 300561 | SLITRK2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| C7 | complement component 7 | 217070 | C7base: Mutation registry for C7 deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| USP26 | ubiquitin specific peptidase 26 | 300309 | USP26 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| C8B | complement component 8, beta polypeptide | 120960 | C8Bbase: Mutation registry for C8B deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| ATP11C | ATPase, class VI, type 11C | 300516 | ATP11C database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| IFT122 | intraflagellar transport 122 homolog (Chlamydomonas) | 606045 | Mendelian genes (IFT122) | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ACE2 | angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 | 300335 | ACE2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MAGEC2 | melanoma antigen family C, 2 | 300468 | MAGEC2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| C9 | complement component 9 | 120940 | C9base: Mutation registry for C9 deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| PABPC5 | poly(A) binding protein, cytoplasmic 5 | 300407 | PABPC5 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TMEM187 | transmembrane protein 187 | 300059 | TMEM187 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| POF1B | premature ovarian failure, 1B | 300603 | POF1B database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CA2 | carbonic anhydrase II | 611492 | CA2base: Mutation registry for Osteopetrosis with renal tubular acidosis | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| CDH23 | cadherin-related 23 | 605516 | Mutations of the Cadherin-related Protein 23 Gene | Retina International |
| CDH23 | cadherin-related 23 | 605516 | Retinal and hearing impairment genetic mutation database | David Baux |
| CDH23 | cadherin-related 23 | 605516 | CCHMC - Human Genetics Mutation Database | Ammar Husami and Theru A. Sivakumaran |
| CDH23 | cadherin-related 23 | 605516 | Hereditary Hearing Loss Homepage | Guy van Camp Univ. ofAntwerp Antwerp, Belgium Richard J.H. Smith Univ. of Iowa Hospitals & Clinics Iowa city, U.S.A |
| FAM3A | family with sequence similarity 3, member A | 300492 | FAM3A database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SOST | sclerosteosis | 605740 | LOVD - Leiden Open Variation Database | Wim van Hul |
| CA5B | carbonic anhydrase VB, mitochondrial | 300230 | CA5B database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PRX | periaxin | 605725 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
| CNTNAP2 | contactin associated protein-like 2 | 604569 | Contactin associated protein-like 2 (CNTNAP2) database | Belinda Giardine and Joseph Borg |
| SH3KBP1 | SH3-domain kinase binding protein 1 | 300374 | SH3KBP1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CACNA1A | calcium channel, voltage-dependent, P/Q type, alpha 1A subunit | 601011 | CAC1A1A database at LOVD | Elles Boon and Boukje de Vries, LUMC, Leiden, Nederland |
| CACNA1A | calcium channel, voltage-dependent, P/Q type, alpha 1A subunit | 601011 | Familial Hemiplegic Migraine (FHM) Variation Database | Paola Carrera PhD and Stefania Battistini MD PhD |
| CACNA1C | calcium channel, voltage-dependent, L type, alpha 1C subunit | 114205 | Gene Connection for the Heart | S.G. Priori, P.J. Schwartz, Pavia, Italy |
| CACNA1C | calcium channel, voltage-dependent, L type, alpha 1C subunit | 114205 | Zhejiang University-Adinovo Center CACNA1C Database | Ming Qi, PhD, FACMG, Peikuan Cong, Yudong Gao and Tao Zhang |
| CACNA1F | calcium channel, voltage-dependent, L type, alpha 1F subunit | 300110 | Mutations of the L-type Calcium-Channel Gene | Retina International |
| CACNA1F | calcium channel, voltage-dependent, L type, alpha 1F subunit | 300110 | CACNA1F database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CACNA1S | calcium channel, voltage-dependent, L type, alpha 1S subunit | 114208 | CACNA1S at LOVD | Ieke Ginjaar & Vincent Janmaat, LUMC, Leiden, Netherlands |
| HDAC6 | histone deacetylase 6 | 300272 | HDAC6 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SGCZ | sarcoglycan, zeta | 608113 | Leiden Muscular Dystrophy Pages | Johan den Dunnen, LUMC, Leiden, Netherlands |
| RAB9B | RAB9B, member RAS oncogene family | 300285 | RAB9B database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ARHGEF10 | Rho guanine nucleotide exchange factor (GEF) 10 | 608136 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
| BLNK | B-cell linker | 604515 | BLNKbase: Mutation registry for BLNK deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| NSD1 | nuclear receptor binding SET domain protein 1 | 606681 | NSD1 at LOVD | Janneke Weiss, LUMC, Leiden, Netherlands |
| PCDH19 | protocadherin 19 | 300460 | PCDH19 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| NLGN4X | neuroligin 4, X-linked | 300427 | NLGN4X database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| NLGN3 | neuroligin 3 | 300336 | NLGN3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ACTC1 | actin, alpha, cardiac muscle 1 | 102540 | FHC Mutation Database | Bing Yu, Ronald J. Trent. Dept. Mol & Clin Genet. Royal Prince Alfred Hosp. Sydney, Australia |
| ACTC1 | actin, alpha, cardiac muscle 1 | 102540 | Sarcomere Protein Gene Mutation Database | NHLBI Program for Genomic Applications, Harvard Medical School. |
| HTRA2 | HtrA serine peptidase 2 | 606441 | PD Mutation Database | Tokyo Univ. Hosp., Tokyo Univ., and Hitachi Ltd. |
| WDR13 | WD repeat domain 13 | 300512 | WDR13 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| IRX5 | iroquois homeobox 5 | 606195 | LOVD - Leiden Open Variation Database (IRX5) | LOVD-Team , but with Curator vacancy |
| NHP2 | NHP2 ribonucleoprotein homolog (yeast) | 606470 | The Telomerase Database | Julian J-L Chen at Arizona State University |
| NOP10 | NOP10 ribonucleoprotein homolog (yeast) | 606471 | The Telomerase Database | Julian J-L Chen at Arizona State University |
| ELOVL4 | elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4 | 605512 | Mutations of the Elongation of Very Long Chain Fatty Acids-like Protein 4 Gene | Retina International |
| LPIN2 | lipin 2 | 605519 | INFEVERS: The repertory of Familial Mediterranean Fever & Hereditary Inflammatory Disorders Mutations | Hatem El-Shanti, Paediatrics, Jordan University of Science and Technology, Amman, Jordan |
| GABRQ | gamma-aminobutyric acid (GABA) receptor, theta | 300349 | GABRQ database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| WNK3 | WNK lysine deficient protein kinase 3 | 300358 | WNK3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PINK1 | PTEN induced putative kinase 1 | 608309 | PINK1 Parkinson's disease Mutation Database | The Parkinson's Institute |
| ABCA12 | ATP-binding cassette, sub-family A (ABC1), member 12 | 607800 | Mutations of the ATP-binding Cassette Transporter A 12 (ABCA12) associated with harlequin ichthyosis, congenital ichthyosiform erythroderma and lamellar ichthyosis | Masashi Akiyama and Kaori Sakai |
| ABCA13 | ATP-binding cassette, sub-family A (ABC1), member 13 | 607807 | LOVD - Leiden Open Variation Database | Johan T. den Dunnen and Ben Pickard |
| PCDH15 | protocadherin-related 15 | 605514 | Retinal and hearing impairment genetic mutation database PCDH15 | david baux |
| PCDH15 | protocadherin-related 15 | 605514 | **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database | Ammar Husami and Theru A. Sivakumaran |
| PCDH15 | protocadherin-related 15 | 605514 | Mutations of the Protocadherin 15 Gene | Retina International |
| PCDH15 | protocadherin-related 15 | 605514 | The UMD PCDH15 mutations database | A.-F. Roux and D. Baux |
| CAPN3 | calpain 3, (p94) | 114240 | Calpain-3; Limb-Girdle Muscular Dystrophy, type 2A | Johan T. den Dunnen Leiden Univ. Med Centre,Leiden, The Netherlands |
| CAPN6 | calpain 6 | 300146 | CAPN6 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ESX1 | ESX homeobox 1 | 300154 | ESX1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PPP1R3F | protein phosphatase 1, regulatory (inhibitor) subunit 3F | \N | PPP1R3F database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| GPR101 | G protein-coupled receptor 101 | 300393 | GPR101 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CASK | calcium/calmodulin-dependent serine protein kinase (MAGUK family) | 300172 | CASK database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CASP10 | caspase 10, apoptosis-related cysteine peptidase | 601762 | CASP10base: Mutation registry for Autoimmune lymphoproliferative syndrome, type II (ALPS2) | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| CASP10 | caspase 10, apoptosis-related cysteine peptidase | 601762 | CCHMC - Human Genetics Mutation Database | Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
| CASP8 | caspase 8, apoptosis-related cysteine peptidase | 601763 | CASP8base: Mutation registry for Caspase 8 deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| CASR | calcium-sensing receptor | 601199 | CASRdb Calcium Sensing Receptor Locus Mutation Database | Svetlana Pidasheva, Geoff Hendy, Manyphong Phommarinh, L.D'Souza-Li, McGill University Healt Centre Montreal, Canada |
| CAV3 | caveolin 3 | 601253 | Limb-Girdle Muscular Dystrophy type 1C | Johan T. den Dunnen, Leiden Univ. Med Centre, Leiden, The Netherlands |
| CAV3 | caveolin 3 | 601253 | Zhejiang University-Adinovo Center CAV3 Database | Ming Qi, PhD, FACMG, Peikuan Cong and Tao Zhang |
| PRPF31 | PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) | 606419 | Mutations of the RNA Processing Factor 31 | Retina International |
| MBTPS2 | membrane-bound transcription factor peptidase, site 2 | 300294 | Membrane-Bound Transcription factor Peptidase, site 2 (MBTPS2) Mental Retardation Database | Johan T. den Dunnen Leiden Univ. Med Centre, Leiden, The Netherlands |
| SERPINH1 | serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) | 600943 | Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants | Raymond Dalgleish, Leicester, U.K. |
| SPINK5 | serine peptidase inhibitor, Kazal type 5 | 605010 | SPINK5base: Mutation registry for Netherton syndrome | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| CBS | cystathionine-beta-synthase | 236200 | Cystathionine beta-synthase database | Jan P. Kraus Univ. of Colorado Denver, U.S.A. |
| P2RY8 | purinergic receptor P2Y, G-protein coupled, 8 | 300525 | P2RY8 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SYTL4 | synaptotagmin-like 4 | 300723 | SYTL4 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SYTL5 | synaptotagmin-like 5 | \N | SYTL5 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| HPS3 | Hermansky-Pudlak syndrome 3 | 606118 | Mutations of the HPS3 Gene | Retina International |
| HPS3 | Hermansky-Pudlak syndrome 3 | 606118 | Albinism Database | William S. Oetting, Int. Albinism Centre, Univ. of Minnesota, USA |
| HPS3 | Hermansky-Pudlak syndrome 3 | 606118 | Hermansky-Pudlak syndrome 3 (HPS3) | LOVD-team, but with Curator vacancy and William (Bill) Oetting |
| TLR7 | toll-like receptor 7 | 300365 | TLR7 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TLR8 | toll-like receptor 8 | 300366 | TLR8 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CYP2S1 | cytochrome P450, family 2, subfamily S, polypeptide 1 | 611529 | Human Cytochrome P450 (CYP) Allele Nomenclature Committee | Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
| ALG9 | asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae) | 606941 | Congenital Disorders of Glycosylation pages | Gert Matthijs, Center for Human Genetics Leuven, Belgium |
| LDB3 | LIM domain binding 3 | 605906 | LDB3 - Leiden Muscular Dystrophy pages | Johan den Dunnen and Montse Olivé |
| ERMAP | erythroblast membrane-associated protein (Scianna blood group) | 609017 | Blood Group Antigen Mutation Database | Olga O. Blumenfeld, Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein, College of Medicine, New York, NY. U.S.A |
| BSCL2 | Berardinelli-Seip congenital lipodystrophy 2 (seipin) | 606158 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
| HPS4 | Hermansky-Pudlak syndrome 4 | 606682 | Mutations of the Human light ear Gene (le, HPS4) | Retina International |
| HPS4 | Hermansky-Pudlak syndrome 4 | 606682 | Hermansky-Pudlak syndrome 4 (HPS4) | LOVD-team, but with Curator vacancy and William (Bill) Oetting |
| SEPT6 | septin 6 | 300683 | SEPT6 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| GDAP1 | ganglioside-induced differentiation-associated protein 1 | 606598 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
| GDAP1 | ganglioside-induced differentiation-associated protein 1 | 606598 | MITOchondrial DYNamics variation pages | Julien CASSEREAU |
| SASH3 | SAM and SH3 domain containing 3 | 300441 | SASH3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TP63 | tumor protein p63 | 603273 | ARVD/C Genes Variants Database | Paul van der Zwaag, Jan Jongbloed and Peter van Tintelen, Dept. of Genetics, Univ Med Center, Groningen, The Netherlands |
| TP63 | tumor protein p63 | 603273 | ARVD/C Genetic Variants Database | Paul van der Zwaag |
| SEPN1 | selenoprotein N, 1 | 606210 | Leiden Muscular Dystrophy Pages | Johan den Dunnen, Tom Winder |
| PCNT | pericentrin | 605925 | Mental Retardation database - pericentrin (PCNT) | Johan T den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PGRMC1 | progesterone receptor membrane component 1 | 300435 | PGRMC1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CHMP4B | chromatin modifying protein 4B | 610897 | CHMP4B database at LOVD | Johan T den Dunnen Leiden Univ. Med Centre |
| DNAJC5 | DnaJ (Hsp40) homolog, subfamily C, member 5 | 204300 | Neuronal Ceroid Lipofuscinoses; NCL Mutations | Sara E. Mole, MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom |
| SYAP1 | synapse associated protein 1, SAP47 homolog (Drosophila) | \N | SYAP1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| KIR3DL3 | killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 | 610095 | IPD-KIR Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| CD19 | CD19 molecule | 107265 | CD19base: Mutation registry for CD19 deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| KIR3DP1 | killer cell immunoglobulin-like receptor, three domains, pseudogene 1 | 610604 | IPD-KIR Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| KIR2DP1 | killer cell immunoglobulin-like receptor, two domains, pseudogene 1 | \N | IPD-KIR Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| KIR2DL5A | killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5A | 605305 | IPD-KIR Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| KIR2DL5B | killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B | 605305 | IPD-KIR Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| MAGED2 | melanoma antigen family D, 2 | 300470 | MAGED2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| USH1G | Usher syndrome 1G (autosomal recessive) | 607696 | The UMD USH1G mutations database | A.-F. Roux and D. Baux |
| USH1G | Usher syndrome 1G (autosomal recessive) | 607696 | Retinal and hearing impairment genetic mutation database USH1G | David Baux |
| USH1G | Usher syndrome 1G (autosomal recessive) | 607696 | **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database | Ammar Husami and Theru A. Sivakumaran |
| DFNB31 | deafness, autosomal recessive 31 | 607928 | CCHMC - Human Genetics Mutation Database | Ammar Husami and Theru A. Sivakumaran |
| DFNB31 | deafness, autosomal recessive 31 | 607928 | Retinal and hearing impairment genetic mutation database WHRN | David Baux |
| PARK7 | Parkinson disease (autosomal recessive, early onset) 7 | 602533 | PARK7 Parkinson's disease Mutation Database | The Parkinson's Institute |
| TRIM32 | tripartite motif-containing 32 | 602290 | Leiden Muscular Dystrophy Pages | Johan T. den Dunnen, Leiden Univ. Medical Centre, Leiden, The Netherlands |
| NLRP3 | NLR family, pyrin domain containing 3 | 606416 | INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations | Hal Hoffmann, Medicine and Pediatrics, University of California at San Diego, La Jolla,USA |
| SLC4A11 | solute carrier family 4, sodium borate transporter, member 11 | 610206 | SLC4A11 at Mendelian Genes | Dr. Joseph Casey, University of Alberta |
| SLC45A2 | solute carrier family 45, member 2 | 606202 | Albinism Database | William S. Oetting, Int. Albinism Centre, Univ. of Minnesota, U.S.A. |
| SLC45A2 | solute carrier family 45, member 2 | 606202 | Mutations of the Membrane-associated Transport Protein Gene (MATP) | Retina International |
| RAB39B | RAB39B, member RAS oncogene family | 300774 | RAB39B database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TMC1 | transmembrane channel-like 1 | 606706 | Hereditary Hearing Loss Homepage | Guy van Camp, Univ. of Antwerp, Antwerp, Belgium; Richard J.H. Smith, Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A |
| TMC1 | transmembrane channel-like 1 | 606706 | CCHMC - Human Genetics Mutation Database | Ammar Husami and Theru A. Sivakumaran |
| KIF1B | kinesin family member 1B | 605995 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis, Molecular Genetics Department, Flanders Interuniversity, Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
| IFITM5 | interferon induced transmembrane protein 5 | 614757 | Osteogenesis Imperfecta Variant Database (IFITM5) | Raymond Dalgleish |
| PJA1 | praja ring finger 1 | 300420 | PJA1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| APLN | apelin | 300297 | APLN database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ZBTB33 | zinc finger and BTB domain containing 33 | 300329 | ZBTB33 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CD3D | CD3d molecule, delta (CD3-TCR complex) | 186790 | CD3Dbase: Mutation registry for Autosomal recessive CD3delta deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| MCEE | methylmalonyl CoA epimerase | 608419 | Zhejiang University Center for Genetic and Genomic Medicine - MCEE | Ming Qi, PhD, FACMG, Peikuan Cong and Yanling Chen |
| CD3E | CD3e molecule, epsilon (CD3-TCR complex) | 186830 | CD3Ebase: Mutation registry for autosomal recessive CD3epsilon immunodeficiency | Mauno Vihinen, Jose R. Regueiro, Univ. of Tampere, Tampere, Finland |
| CD3G | CD3g molecule, gamma (CD3-TCR complex) | 186740 | CD3Gbase: Mutation registry for autosomal recessive CD3gamma immunodeficiency | Mauno Vihinen, Jose R. Regueiro, Univ. of Tampere, Tampere, Finland |
| CD247 | CD247 molecule | 186780 | CD247base: Mutation registry for Autosomal recessive CD3Zeta deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| DACH2 | dachshund homolog 2 (Drosophila) | 300608 | DACH2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| HDHD1 | cid dehalogenase-like hydrolase domain containing 1 | 306480 | HDHD1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MTMR8 | myotubularin related protein 8 | \N | MTMR8 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| LITAF | lipopolysaccharide-induced TNF factor | 603795 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis, Molecular Genetics Department, Flanders Interuniversity, Institute for Biotechnology (VIB, University of Antwerp (UA), Belgium |
| ARMCX2 | armadillo repeat containing, X-linked 2 | 300363 | ARMCX2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MFN2 | mitofusin 2 | 608507 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis, Molecular Genetics Department, Flanders Interuniversity, Institute for Biotechnology (VIB, University of Antwerp (UA), Belgium |
| CD59 | CD59 molecule, complement regulatory protein | 107271 | CD59base: Mutation registry for CD59 deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| HAX1 | HCLS1 associated protein X-1 | 605998 | CCHMC - Human Genetics Mutation Database | Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
| FAM120C | family with sequence similarity 120C | 300741 | FAM120C database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CD79A | CD79a molecule, immunoglobulin-associated alpha | 112205 | CD79Abase: Mutation registry for Igα deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| HPS5 | Hermansky-Pudlak syndrome 5 | 607521 | Hermansky-Pudlak syndrome 5 (HPS5) | LOVD-team, but with Curator vacancy and William (Bill) Oetting |
| VSIG4 | V-set and immunoglobulin domain containing 4 | 300353 | VSIG4 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CD8A | CD8a molecule | 186910 | CD8Abase: Mutation registry for CD8 deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| BMP2KL | BMP2 inducible kinase-like | \N | BMP2KL database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SYNE2 | spectrin repeat containing, nuclear envelope 2 | 608442 | Leiden Muscular Dystrophy pages | Johan T. den Dunnen Leiden Univ. Med Centre |
| SYNE1 | spectrin repeat containing, nuclear envelope 1 | 608441 | Leiden Muscular Dystrophy pages | Johan T. den Dunnen Leiden Univ. Med Centre |
| SLC9A7 | solute carrier family 9 (sodium/hydrogen exchanger), member 7 | 300368 | SLC9A7 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ACOT9 | acyl-CoA thioesterase 9 | \N | ACOT9 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PRDX4 | peroxiredoxin 4 | 606506 | PRDX4 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ASB9 | ankyrin repeat and SOCS box-containing 9 | \N | ASB9 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ASB11 | ankyrin repeat and SOCS box-containing 11 | 300626 | ASB11 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TAF9B | TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa | 300754 | TAF9B database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TIMM17B | translocase of inner mitochondrial membrane 17 homolog B (yeast) | 300249 | TIMM17B database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SP7 | Sp7 transcription factor | 606633 | Osteogenesis Imperfecta Variant Database | Raymond Dalgleish |
| PRPF8 | PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) | 607300 | Mutations of the Precursor mRNA Processing Protein 8 | Retina International |
| BRWD3 | bromodomain and WD repeat domain containing 3 | 300553 | BRWD3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ZC3H12B | zinc finger CCCH-type containing 12B | \N | ZC3H12B database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| GPR98 | G protein-coupled receptor 98 | 602851 | CCHMC - Human Genetics Mutation Database | Ammar Husami and Theru A. Sivakumaran |
| GPR98 | G protein-coupled receptor 98 | 602851 | Retinal and hearing impairment genetic mutation database | David Baux, Inserm |
| CYP3A43 | cytochrome P450, family 3, subfamily A, polypeptide 43 | 606534 | Human Cytochrome P450 (CYP) Allele Nomenclature Committee | Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
| CYSLTR1 | cysteinyl leukotriene receptor 1 | 300201 | CYSLTR1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CDH1 | cadherin 1, type 1, E-cadherin (epithelial) | 192090 | Colon cancer gene variant databases - CDH1 | Florentia Fostira |
| ACVRL1 | activin A receptor type II-like 1 | 601284 | Hereditary Hemorrhagic Telangiectasia (HHT) Mutation Database | Pinar Bayrak-Toydemir, University of Utah, ARUP Laboratories |
| GAB3 | GRB2-associated binding protein 3 | 300482 | GAB3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| KAT6B | K(lysine) acetyltransferase 6B | 605880 | Baylor College of Medicine (KAT6B) | Philippe Campeau |
| CDH3 | cadherin 3, type 1, P-cadherin (placental) | 114021 | Mutations of the P-Cadherin Gene | Retina International |
| DCLRE1C | DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae) | 605988 | DCLRE1Cbase: Mutation registry for Artemis deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| PORCN | porcupine homolog (Drosophila) | 300651 | PORCN at LOVD | M.P. Lombardi and R.C.M. Hennekam, Academic Medical Center, University of Amsterdam |
| EDA2R | ectodysplasin A2 receptor | 300276 | EDA2R database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TNMD | tenomodulin | 300459 | TNMD database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| AMOT | angiomotin | 300410 | AMOT database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CDKN2A | cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) | 600160 | CDKN2a Database Project (a human p16 database with annotation) | Marc Greenblatt Univ. of Vermont, Burlington VT, USA |
| CDKN2A | cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) | 600160 | CDKN2A database at LOVD | Janneke Weiss, LUMC, Leiden, The Netherlands |
| INVS | inversin | 243305 | LOVD 3.0 database (INVS) | LOVD-team, but with Curator vacancy |
| APEX2 | APEX nuclease (apurinic/apyrimidinic endonuclease) 2 | 300773 | APEX2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| IRAK4 | interleukin-1 receptor-associated kinase 4 | 606883 | IRAK4base: Mutation registry for IRAK4 deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| CDR1 | cerebellar degeneration-related protein 1, 34kDa | 302650 | CDR1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| NAGS | N-acetylglutamate synthase | 608300 | NAGS database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| FKRP | fukutin related protein | 606596 | Leiden Muscular Dystrophy Pages | Johan T. den Dunnen, Leiden Univ. Med Centre, Leiden, The Netherlands & Rosário dos Santos, Centro de Genética Médica J., Magalhães, INSA, Portugal |
| NUP133 | nucleoporin 133kDa | 607613 | Nucleoporin 133kDa (NUP133) database | Belinda Giardine and Joseph Borg |
| TMC6 | transmembrane channel-like 6 | 605828 | TMC6base: Mutation registry for Epidermodysplasia verruciformis (previously known as EVER1base) | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| SLC38A5 | solute carrier family 38, member 5 | 300649 | SLC38A5 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ARMCX1 | armadillo repeat containing, X-linked 1 | 300362 | ARMCX1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TNFRSF13B | tumor necrosis factor receptor superfamily, member 13B | 604907 | TNFRSF13Bbase: Mutation registry for TACI deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| FKBP10 | FK506 binding protein 10, 65 kDa | 607063 | Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants | Raymond Dalgleish, Leicester, UK. |
| GPR173 | G protein-coupled receptor 173 | 300253 | GPR173 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CD99L2 | CD99 molecule-like 2 | \N | CD99L2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| RAB40A | RAB40A, member RAS oncogene family | \N | RAB40A database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| RAB41 | RAB41, member RAS oncogene family | \N | RAB41 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ALG1 | asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae) | 605907 | Congenital Disorders of Glycosylation pages | Gert Matthijs Center for Human Genetics Leuven, Belgium |
| ATP6AP2 | ATPase, H+ transporting, lysosomal accessory protein 2 | 300556 | ATP6AP2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TMLHE | trimethyllysine hydroxylase, epsilon | 300777 | TMLHE database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ASXL1 | additional sex combs like 1 (Drosophila) | 612990 | LOVD - Leiden Open Variation Database (ASXL1) | Helger Yntema |
| CEBPE | CCAAT/enhancer binding protein (C/EBP), epsilon | 600749 | CEBPEbase: Mutation registry for Neutrophil-specific granule deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| IMPG2 | interphotoreceptor matrix proteoglycan 2 | 607056 | Eye diseases - LOVD | Jacopo Celli |
| HPSE2 | heparanase 2 | 613469 | heparanase 2 (HPSE2) | LOVD-Team, but with (acting), Curator vacancy |
| FAM9A | family with sequence similarity 9, member A | 300477 | FAM9A database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| FAM9C | family with sequence similarity 9, member C | 300479 | FAM9C database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CXorf27 | chromosome X open reading frame 27 | \N | CXorf27 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ZDHHC9 | zinc finger, DHHC-type containing 9 | 300646 | ZDHHC9 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TXLNG | taxilin gamma | 300677 | CXorf15 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ADA | adenosine deaminase | 608958 | ADAbase: Mutation registry for Adenosine Deaminase Deficiency | Mauno Vihinen, Michael Hershfield, Univ. of Tampere, Finland |
| LRRK2 | leucine-rich repeat kinase 2 | 609007 | LRRK2 Parkinson's disease Mutation Database | The Parkinson's Institute |
| LDLRAP1 | low density lipoprotein receptor adaptor protein 1 | 605747 | Leiden Muscular Dystrophy pages | Sarah Leigh |
| GRIPAP1 | GRIP1 associated protein 1 | 300408 | GRIPAP1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CCNB3 | cyclin B3 | 300456 | CCNB3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PNMA3 | paraneoplastic antigen MA3 | 300675 | PNMA3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PNMA5 | paraneoplastic antigen like 5 | \N | PNMA5 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CFL2 | cofilin 2 (muscle) | 601443 | Leiden Muscular Dystrophy pages | Johan T. den Dunnen Leiden Univ. Med Centre |
| BBS7 | Bardet-Biedl syndrome 7 | 607590 | Mutations of the Bardet-Biedl Syndrome Type 7 Gene (BBS2L1) | Retina International |
| BBS7 | Bardet-Biedl syndrome 7 | 607590 | EURO-WABB Project Open Variation Database | Dewi Astuti |
| AKAP17A | A kinase (PRKA) anchor protein 17A | 465000 | X-Chromosome gene database - SFRS17A | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| FAM50A | family with sequence similarity 50, member A | 300453 | FAM50A database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| HPS6 | Hermansky-Pudlak syndrome 6 | 607522 | Hermansky-Pudlak syndrome 6 (HPS6) | LOVD-team, but with Curator vacancy and William (Bill) Oetting |
| CFTR | cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) | 602421 | Cystic Fibrosis | Lap Chee Tsui, The Hospital for Sick Children, Toronto, Canada |
| MMAA | methylmalonic aciduria (cobalamin deficiency) cblA type | 607481 | Zhejiang University Center for Genetic and Genomic Medicine - MMAA | Ming Qi, PhD, FACMG, Peikuan Cong and Yanling Chen |
| TOX | thymocyte selection-associated high mobility group box | 606863 | Thymocyte selection-associated high mobility group box (TOX) database | Belinda Giardine and Joseph Borg |
| GPR112 | G protein-coupled receptor 112 | \N | GPR112 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| LRRC8A | leucine rich repeat containing 8 family, member A | 608360 | LRRC8Abase: Mutation registry for Non-Bruton type autosomal dominant agammaglobulinemia | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| GPR119 | G protein-coupled receptor 119 | 300513 | GPR119 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| THOC2 | THO complex 2 | 300395 | THOC2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| HS6ST2 | heparan sulfate 6-O-sulfotransferase 2 | 300545 | HS6ST2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| POMGNT1 | protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase | 606822 | Leiden Muscular Dystrophy pages | Rosário dos Santos & Johan den Dunnen |
| STARD8 | StAR-related lipid transfer (START) domain containing 8 | 300689 | STARD8 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| LEPRE1 | leucine proline-enriched proteoglycan (leprecan) 1 | 610339 | Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants | Raymond Dalgleish, Leicester, U.K. |
| MMAB | methylmalonic aciduria (cobalamin deficiency) cblB type | 607568 | Zhejiang University Center for Genetic and Genomic Medicine - MMAB | Ming Qi, PhD, FACMG, Peikuan Cong and Yanling Chen |
| ALG12 | asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) | 607144 | Congenital Disorders of Glycosylation pages | Gert Matthijs, Center for Human Genetics Leuven, Belgium |
| NKRF | NFKB repressing factor | 300440 | NKRF database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| HLA-X | major histocompatibility complex, class I, X (pseudogene) | \N | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-DPA3 | major histocompatibility complex, class II, DP alpha 3 (pseudogene) | \N | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-Z | major histocompatibility complex, class I, Z (pseudogene) | \N | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-S | major histocompatibility complex, class I, S (pseudogene) | \N | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| CHM | choroideremia (Rab escort protein 1) | 300390 | Mutations of the Rab Escort Protein 1 | Retina International |
| CHM | choroideremia (Rab escort protein 1) | 300390 | CHM database at LOVD | D. Baux, Institut Universitaire de Recherche Clinique UFR Médecine Site NORD, Montpellier, France |
| HLA-N | major histocompatibility complex, class I, N (pseudogene) | \N | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| SBDS | Shwachman-Bodian-Diamond syndrome | 607444 | SBDSbase: Mutation registry for Shwachman-Diamond syndrome | László Maródi and Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| SSX6 | synovial sarcoma, X breakpoint 6 (pseudogene) | 300541 | SSX6 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CHRNG | cholinergic receptor, nicotinic, gamma | 100730 | Cholinergic receptor, nicotinic, gamma polypeptide (CHRNG) variation database | Dr Julie Vogt and Dr Derek Lim |
| LYST | lysosomal trafficking regulator | 606897 | Albinism Database | William S. Oetting, Int. Albinism Centre, Univ. of Minnesota, U.S.A. |
| LYST | lysosomal trafficking regulator | 606897 | LYSTbase: Mutation registry for Chediak-Higashi syndrome (previously known as CHS1base) | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| LYST | lysosomal trafficking regulator | 606897 | Mutations of the Chediak Higashi Syndrome | Retina International |
| CNKSR2 | connector enhancer of kinase suppressor of Ras 2 | 300724 | CNKSR2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| POMT2 | protein-O-mannosyltransferase 2 | 607439 | Leiden Muscular Dystrophy Pages | Rosário dos Santos & Johan den Dunnen |
| ASB12 | ankyrin repeat and SOCS box-containing 12 | \N | ASB12 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CITED1 | Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1 | 300149 | CITED1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| GALNT12 | UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) | 610290 | Colon cancer gene variant databases | Mamata Sivagnanam, John-Paul Plazzer and Johan T. den Dunnen |
| P2RY10 | purinergic receptor P2Y, G-protein coupled, 10 | 300529 | P2RY10 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PCSK9 | proprotein convertase subtilisin/kexin type 9 | 607786 | Hypercholesterolemia, Familial | Sarah Leigh |
| DDX53 | DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 | \N | DDX53 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| GPR143 | G protein-coupled receptor 143 | 300500 | Albinism Database | William S. Oetting, Int. Albinism Centre, Univ. of Minnesota |
| GPR143 | G protein-coupled receptor 143 | 300500 | Mutations of the OA1 Gene | Retina International |
| CLCN1 | chloride channel 1, skeletal muscle | 118425 | CLCN1 - Chloride channel 1, skeletal muscle | Ieke Ginjaar and Vincent Janmaat, Clinical Genetics, LUMC, Leiden |
| SLC35C1 | solute carrier family 35, member C1 | 605881 | Congenital Disorder of Glycosylation pages | Gert Matthijs Center for Human Genetics Leuven, Belgium |
| SLC35C1 | solute carrier family 35, member C1 | 605881 | SLC35C1base: Mutation registry for Leucocyte adhesion deficiency I I (LAD-II) (previously known as FUCT1base) | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| B3GALTL | beta 1,3-galactosyltransferase-like | 610308 | B3GALTL - Peters' Plus syndrome at LOVD | Janneke Weiss, LUMC, Leiden, Nederland |
| CLCN4 | chloride channel, voltage-sensitive 4 | 302910 | CLCN4 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CLCN5 | chloride channel 5 | 300008 | CLCN5 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CYP2W1 | cytochrome P450, family 2, subfamily W, polypeptide 1 | \N | Human Cytochrome P450 (CYP) Allele Nomenclature Committee | Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
| SPRED1 | sprouty-related, EVH1 domain containing 1 | 609291 | Legius Syndrome and SPRED1 Gene Database | Kelli Sumner, University of Utah, ARUP Laboratories |
| CLCN7 | chloride channel 7 | 602727 | CLCN7base: Mutation registry for Autosomal dominant osteopetrosis, type 2 | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| CLDN14 | claudin 14 | 605608 | Hereditary Hearing Loss Homepage | Guy van Camp Univ. of Antwerp Antwerp, Belgium; Richard J.H. Smith. Univ. of Iowa Hospitals & Clinics Iowa city, U.S.A |
| CLDN2 | claudin 2 | 300520 | CLDN2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PDS5B | PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) | 605333 | PDS5B database at LOVD | Johan T den Dunnen Leiden Univ. Med Centre |
| UPF3B | UPF3 regulator of nonsense transcripts homolog B (yeast) | 300298 | UPF3B database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| BRIP1 | BRCA1 interacting protein C-terminal helicase 1 | 605882 | Fanconi Anaemia Mutation Database | Arleen D. Auerbach, PhD, The Rockefeller University, NY; Detlev Schindler,MD,PhD, University of Wuerzburg, Germany and consortium |
| TMC8 | transmembrane channel-like 8 | 605829 | TMC8base: Mutation registry for Epidermodysplasia verruciformis (previously known as EVER2base) | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| DUSP21 | dual specificity phosphatase 21 | 300678 | DUSP21 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| L2HGDH | L-2-hydroxyglutarate dehydrogenase | 609584 | L-2-hydroxyglutarate dehydrogenase (L2HGDH) at LOVD | Gajja Salomons |
| MBNL3 | muscleblind-like 3 (Drosophila) | 300413 | MBNL3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CYP4A22 | cytochrome P450, family 4, subfamily A, polypeptide 22 | \N | Human Cytochrome P450 (CYP) Allele Nomenclature Committee | Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
| CYP2R1 | cytochrome P450, family 2, subfamily R, polypeptide 1 | 608713 | Human Cytochrome P450 (CYP) Allele Nomenclature Committee | Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
| CLIC2 | chloride intracellular channel 2 | 300138 | CLIC2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PHF8 | PHD finger protein 8 | 300560 | PHF8 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PASD1 | PAS domain containing 1 | \N | PASD1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SPIN2A | spindlin family, member 2A | 300621 | SPIN2A database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TPP1 | tripeptidyl peptidase I | 607998 | Neuronal Ceroid Lipofuscinoses; NCL Mutations | Sara E. Mole, MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom |
| CLN3 | ceroid-lipofuscinosis, neuronal 3 | 607042 | Neuronal Ceroid Lipofuscinoses; NCL Mutations | Sara E. Mole, MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom |
| CLN3 | ceroid-lipofuscinosis, neuronal 3 | 607042 | Mutations of the CLN3 Gene | Retina International |
| FANCL | Fanconi anemia, complementation group L | 608111 | Fanconi Anaemia Mutation Database | Arleen D. Auerbach, PhD, The Rockefeller University, NY; Detlev Schindler,MD,PhD, University of Wuerzburg, Germany and consortium |
| CLN5 | ceroid-lipofuscinosis, neuronal 5 | 608102 | Neuronal Ceroid Lipofuscinoses; NCL Mutations | Sara E. Mole, MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom |
| CLN6 | ceroid-lipofuscinosis, neuronal 6, late infantile, variant | 606725 | Neuronal Ceroid Lipofuscinoses; NCL Mutations | Sara E. Mole, MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom |
| CLN8 | ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) | 607837 | Neuronal Ceroid Lipofuscinoses; NCL Mutations | Sara E. Mole, MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom |
| THAP1 | THAP domain containing, apoptosis associated protein 1 | 609520 | The UMD THAP1 mutations database | Gwenaelle Collod-Beroud |
| BCOR | BCL6 co-repressor | 300485 | BCOR database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CSAG4 | CSAG family, member 4 (pseudogene) | \N | CSAG4 database at LOVD | Ing. Ivo F.A.C. Fokkema |
| VGLL1 | vestigial like 1 (Drosophila) | 300583 | VGLL1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ZNF449 | zinc finger protein 449 | 300627 | ZNF449 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| LONRF3 | LON peptidase N-terminal domain and ring finger 3 | \N | LONRF3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| RNF128 | ring finger protein 128 | 300439 | RNF128 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| RNF135 | ring finger protein 135 | 611358 | RNF135 at LOVD | Monique Losekoot, LUMC, Leiden, Netherlands |
| HLA-P | major histocompatibility complex, class I, P (pseudogene) | \N | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| SBF2 | SET binding factor 2 | 607697 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
| CNGA1 | cyclic nucleotide gated channel alpha 1 | 123825 | Mutations of the Cyclic Nucleotide-gated Cation Channel | Retina International |
| CNGA2 | cyclic nucleotide gated channel alpha 2 | 300338 | CNGA2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CNGA3 | cyclic nucleotide gated channel alpha 3 | 600053 | Mutations of the Cone Cyclic Nucleotide-gated Cation Channel | Retina International |
| CNTN1 | contactin 1 | 600016 | CNTN1 - Leiden Muscular Dystrophy pages | Johan T den Dunnen Leiden Univ. Med Centre |
| PGAM4 | phosphoglycerate mutase family member 4 | 300567 | PGAM4 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| COCH | coagulation factor C homolog, cochlin (Limulus polyphemus) | 603196 | Hereditary Hearing Loss Homepage | Guy van Camp, Univ. of Antwerp, Antwerp, Belgium, Richard J.H. Smith, Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A |
| COL11A2 | collagen, type XI, alpha 2 | 120290 | Hereditary Hearing Loss Homepage | Guy van Camp, Univ. of Antwerp, Antwerp, Belgium, Richard J.H. Smith, Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A |
| COL1A1 | collagen, type I, alpha 1 | 120150 | Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants | Raymond Dalgleish, Leicester, U.K. |
| COL1A2 | collagen, type I, alpha 2 | 120160 | Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants | Raymond Dalgleish, Leicester, U.K. |
| COL2A1 | collagen, type II, alpha 1 | 120140 | Collagen, type II, alpha 1 database at LOVD | Isabelle Touitou, Laboratory of Genetics, A de Villeneuve Hospital, Montpellier, France |
| COL3A1 | collagen, type III, alpha 1 | 120180 | Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants | Raymond Dalgleish, Leicester, U.K. |
| COL3A1 | collagen, type III, alpha 1 | 120180 | The UMD COL3A1 mutations database | P. Khau van Kien |
| COL4A5 | collagen, type IV, alpha 5 | 303630 | ALPORT syndrome and COL4A5 gene Database | Genevieve Pont-Kingdon, PhD, ARUP Institute for Clinical and Experimental Pathology(r), Salt Lake City, UT, USA |
| COL4A5 | collagen, type IV, alpha 5 | 303630 | Collagen, type IV, alpha 5 (COL4A5) Mental Retardation Database | Judy Savige |
| COL4A6 | collagen, type IV, alpha 6 | 303631 | Collagen, type IV, alpha 6 (COL4A6) Mental Retardation Database | Judy Savige |
| VMA21 | VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) | 310440 | Leiden Muscular Dystrophy pages | Johan T den Dunnen Leiden Univ. Med Centre |
| COL5A1 | collagen, type V, alpha 1 | 120215 | Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants | Raymond Dalgleish, Leicester, U.K. |
| COL5A2 | collagen, type V, alpha 2 | 120190 | Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants | Raymond Dalgleish, Leicester, U.K. |
| COL6A1 | collagen, type VI, alpha 1 | 120220 | Leiden Muscular Dystrophy Pages | Johan T. den Dunnen Leiden Univ. Med Centre, Leiden, The Netherlands and Anne Lampe, University Newcastle upon Tyne, UK |
| COL6A2 | collagen, type VI, alpha 2 | 120240 | Leiden Muscular Dystrophy Pages | Johan T. den Dunnen Leiden Univ. Med Centre, Leiden, The Netherlands and Anne Lampe, University Newcastle upon Tyne, UK |
| COL6A3 | collagen, type VI, alpha 3 | 120250 | Leiden Muscular Dystrophy Pages | Johan T. den Dunnen Leiden Univ. Med Centre, Leiden, The Netherlands and Anne Lampe, University Newcastle upon Tyne, UK |
| COL7A1 | collagen, type VII, alpha 1 | 120120 | Medical Genetics Department Institute of Mother and Child | Prof. Cezary Kowalewski, Katarzyna Wertheim-Tysarowska, |
| COLQ | collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase | 603033 | ESTHER www server: ESTerases and alpha/beta Hydrolase Enzymes & Relatives | Xavier Cousin, Institut National de la Recherche, Agronomique, Montpellier, France |
| TCEAL5 | transcription elongation factor A (SII)-like 5 | \N | TCEAL5 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ENOX2 | ecto-NOX disulfide-thiol exchanger 2 | 300282 | ENOX2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| KLHL13 | kelch-like 13 (Drosophila) | 300655 | KLHL13 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| NLRP7 | NLR family, pyrin domain containing 7 | 609661 | INFEVERS: The repertory of RMHs sequence variants | Rima Slim, Montreal General Hospital Research Institute, Montreal, Canada |
| PEX26 | peroxisomal biogenesis factor 26 | 608666 | dbPEX, PEX26 Gene Database | Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA. |
| SLC10A3 | solute carrier family 10 (sodium/bile acid cotransporter family), member 3 | 312090 | SLC10A3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PHF16 | PHD finger protein 16 | 300618 | PHF16 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ZCCHC5 | zinc finger, CCHC domain containing 5 | \N | ZCCHC5 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ZRSR2 | zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 | 300028 | ZRSR2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| LMBRD1 | LMBR1 domain containing 1 | 612625 | Zhejiang University Center for Genetic and Genomic Medicine - LMBRD1 | Ming Qi, PhD, FACMG, Peikuan Cong and Yanling Chen |
| ALG3 | asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) | 608750 | Congenital Disorder of Glycosylation pages | Gert Matthijs, Center for Human Genetics Leuven, Belgium |
| USP51 | ubiquitin specific peptidase 51 | \N | USP51 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SLC29A3 | solute carrier family 29 (nucleoside transporters), member 3 | 612373 | SLC29A3 database at LOVD | Dr Neil Morgan and Dr. Derek Lim |
| UNC13D | unc-13 homolog D (C. elegans) | 608897 | CCHMC - Human Genetics Mutation Database | Ammar Husami and Theru A. Sivakumaran |
| UNC13D | unc-13 homolog D (C. elegans) | 608897 | UNC13Dbase: Mutation registry for Familial hemophagocytic lymphohistiocytosis 3 | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| PLCXD1 | phosphatidylinositol-specific phospholipase C, X domain containing 1 | \N | PLCXD1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| WNK1 | WNK lysine deficient protein kinase 1 | 608620 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
| ALG6 | asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) | 604566 | Congenital Disorder of Glycosylation pages | Gert Matthijs, Center for Human Genetics Leuven, Belgium |
| ALG2 | asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae) | 607905 | Congenital Disorders of Glycosylation pages | Gert Matthijs, Center for Human Genetics Leuven, Belgium |
| ALG8 | asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) | 608103 | Congenital Disorders of Glycosylation pages | Gert Matthijs, Center for Human Genetics Leuven, Belgium |
| FANCM | Fanconi anemia, complementation group M | 609644 | Fanconi Anaemia Mutation Database | Arleen Auerbach, Rockefeller University, New York, USA |
| CPS1 | carbamoyl-phosphate synthetase 1, mitochondrial | 608307 | CPS1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| AWAT2 | acyl-CoA wax alcohol acyltransferase 2 | \N | AWAT2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| AWAT1 | acyl-CoA wax alcohol acyltransferase 1 | \N | AWAT1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CPXCR1 | CPX chromosome region, candidate 1 | \N | CPXCR1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CR1 | complement component (3b/4b) receptor 1 (Knops blood group) | 120620 | Blood Group Antigen Mutation Database | Olga O. Blumenfeld, Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein, College of Medicine, New York, NY. U.S.A |
| HLA-W | major histocompatibility complex, class I, W (pseudogene) | \N | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| CRB1 | crumbs homolog 1 (Drosophila) | 604210 | Mutations of the Human Crumbs Homologue 1 | Retina International |
| HLA-U | major histocompatibility complex, class I, U (pseudogene) | \N | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-T | major histocompatibility complex, class I, T (pseudogene) | \N | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| CREBBP | CREB binding protein | 600140 | CREBBP - Rubinstein-Taybi Syndrome (RSTS) | Dorien Peters, Clinical Genetics, LUMC, Leiden |
| HLA-V | major histocompatibility complex, class I, V (pseudogene) | \N | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| MORC4 | MORC family CW-type zinc finger 4 | \N | MORC4 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SLITRK4 | SLIT and NTRK-like family, member 4 | 300562 | SLITRK4 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| GNE | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | 603824 | GNE database at LOVD | Johan T den Dunnen Leiden Univ. Med Centre |
| MED14 | mediator complex subunit 14 | 300182 | MED14 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CRTAP | cartilage associated protein | 605497 | Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants | Raymond Dalgleish, Leicester, U.K. |
| MAGEB5 | melanoma antigen family B, 5 | 300466 | MAGEB5 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MAGEB6 | melanoma antigen family B, 6 | 300467 | MAGEB6 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MAGEC3 | melanoma antigen family C, 3 | 300469 | MAGEC3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CRX | cone-rod homeobox | 602225 | Mutations of the Cone Rod Homeobox Gene | Retina International |
| CRYAA | crystallin, alpha A | 123580 | CRYAA database at LOVD | Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
| CRYAB | crystallin, alpha B | 123590 | CRYAB database at LOVD | Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
| CRYBA1 | crystallin, beta A1 | 123610 | CRYBA1 database at LOVD | Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
| CRYBA4 | crystallin, beta A4 | 123631 | CRYBA4 database at LOVD | Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
| CRYBB1 | crystallin, beta B1 | 600929 | CRYBB1 database at LOVD | Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
| CRYBB2 | crystallin, beta B2 | 123620 | CRYBB2 database at LOVD | Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
| CRYBB3 | crystallin, beta B3 | 123630 | CRYBB3 database at LOVD | Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
| HTR3C | 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic | 610121 | HTR3C database at Heidelberg University | Dr. Beate Niesler, Heidelberg University |
| HTR3D | 5-hydroxytryptamine (serotonin) receptor 3D, ionotropic | 610122 | HTR3D database at Heidelberg University | Dr. Beate Niesler, Heidelberg University |
| HTR3E | 5-hydroxytryptamine (serotonin) receptor 3E, ionotropic | 610123 | HTR3E database at Heidelberg University | Dr. Beate Niesler, Heidelberg University |
| APOOL | apolipoprotein O-like | \N | APOOL database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ACTRT1 | actin-related protein T1 | 300487 | ACTRT1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| AKAP14 | A kinase (PRKA) anchor protein 14 | 300462 | AKAP14 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ARMCX3 | armadillo repeat containing, X-linked 3 | 300364 | ARMCX3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MAGEH1 | melanoma antigen family H, 1 | 300548 | MAGEH1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CRYGC | crystallin, gamma C | 123680 | CRYGC database at LOVD | Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
| CRYGD | crystallin, gamma D | 123690 | CRYGD database at LOVD | Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
| CRYGS | crystallin, gamma S | 123730 | CRYGS database at LOVD | Lars Hansen Institute of Cellular and Molecular Medicine, Section IV, The Panum Institute. University of Copenhagen, Copenhagen, Denmark |
| ATXN3L | ataxin 3-like | \N | ATXN3L database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CRYM | crystallin, mu | 123740 | CRYM database at LOVD | Johan T den Dunnen Leiden Univ. Med Centre |
| CISD2 | CDGSH iron sulfur domain 2 | 611507 | EURO-WABB Project Open Variation Database | Dewi Astuti |
| CSAG1 | chondrosarcoma associated gene 1 | \N | CSAG1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| C1GALT1C1 | C1GALT1-specific chaperone 1 | 300611 | C1GALT1C1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| C1GALT1C1 | C1GALT1-specific chaperone 1 | 300611 | C1GALT1C1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CSF2RA | colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) | 425000 | CSF2RA database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TSPYL2 | TSPY-like 2 | 300564 | TSPYL2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CHST14 | carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 | 608429 | Ehlers-Danlos Syndrome Variant Database (CHST14) | Raymond Dalgleish |
| MMACHC | methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria | 609831 | Zhejiang University Center for Genetic and Genomic Medicine - MMACHC | Ming Qi, PhD, FACMG |
| CHMP2B | charged multivesicular body protein 2B | 609512 | Alzheimer Disease & Frontotemporal Dementia Mutation Database | Marc Cruts & Nathalie Brouwers Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
| KANSL1 | KAT8 regulatory NSL complex subunit 1 | 612452 | LOVD - Leiden Open Variation Database (KANSL1) | Giuseppe Marangi |
| CSNK2A1 | casein kinase 2, alpha 1 polypeptide | 115440 | Casein kinase 2, alpha 1 polypeptide (CSNK2A1) database | Belinda Giardine and Joseph Borg |
| TFDP3 | transcription factor Dp family, member 3 | 300772 | TFDP3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SMC3 | structural maintenance of chromosomes 3 | 606062 | Cornelia de Lange syndrome, type 3 (CDLS3) | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| FATE1 | fetal and adult testis expressed 1 | 300450 | FATE1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TBC1D8B | TBC1 domain family, member 8B (with GRAM domain) | \N | TBC1D8B database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| LANCL3 | LanC lantibiotic synthetase component C-like 3 (bacterial) | \N | LANCL3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| GPRASP1 | G protein-coupled receptor associated sorting protein 1 | 300417 | GPRASP1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CSTF2 | cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa | 600368 | CSTF2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MOGS | mannosyl-oligosaccharide glucosidase | 601336 | Congenital Disorder of Glycosylation pages | Gert Matthijs, Center for Human Genetics, Leuven, Belgium |
| PNPLA4 | patatin-like phospholipase domain containing 4 | 300102 | PNPLA4 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CTAG2 | cancer/testis antigen 2 | 300396 | CTAG2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ZC4H2 | zinc finger, C4H2 domain containing | \N | ZC4H2 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MAGEE1 | melanoma antigen family E, 1 | 300759 | MAGEE1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MAGEE2 | melanoma antigen family E, 2 | 300760 | MAGEE2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| LUZP4 | leucine zipper protein 4 | 300616 | LUZP4 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CTDP1 | CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 | 604927 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
| RIPPLY1 | ripply1 homolog (zebrafish) | 300575 | RIPPLY1 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| GPRASP2 | G protein-coupled receptor associated sorting protein 2 | \N | GPRASP2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CTPS2 | CTP synthase II | 300380 | CTPS2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| FAM122C | family with sequence similarity 122C | \N | FAM122C database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MMADHC | methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria | 611935 | Zhejiang University Center for Genetic and Genomic Medicine - MMADHC | Ming Qi, PhD, FACMG, Peikuan Cong and Yanling Chen |
| CTSC | cathepsin C | 602365 | CTSCbase: Mutation registry for Papillon-Lefevre syndrome | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| FAM47C | family with sequence similarity 47, member C | \N | FAM47C database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CTSK | cathepsin K | 601105 | Cathepsin K Mutations DataBase | Xiaohong Duan, Yang Xue |
| MAGEB10 | melanoma antigen family B, 10 | 300761 | MAGEB10 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| NRK | Nik related kinase | 300791 | NRK database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| RAB40AL | RAB40A, member RAS oncogene family-like | 300405 | RAB40AL database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| BEX4 | brain expressed, X-linked 4 | 300692 | BEX4 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CXorf57 | chromosome X open reading frame 57 | \N | CXorf57 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| WRAP53 | WD repeat containing, antisense to TP53 | 612661 | The Telomerase Database | Julian J-L Chen at Arizona State University |
| TMEM38B | transmembrane protein 38B | 611236 | Osteogenesis Imperfecta Variant Database (TMEM38B) | Raymond Dalgleish |
| CUL4B | cullin 4B | 300304 | CUL4B database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| GNL3L | guanine nucleotide binding protein-like 3 (nucleolar)-like | \N | GNL3L database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| FANCI | Fanconi anemia, complementation group I | 611360 | Fanconi Anaemia Mutation Database | Arleen D. Auerbach, PhD, The Rockefeller University, NY; Detlev Schindler,MD,PhD, University of Wuerzburg, Germany and consortium |
| CXCR4 | chemokine (C-X-C motif) receptor 4 | 162643 | CXCR4base: Mutation registry for WHIM syndrome (warts, hypogammaglobulinemia, immunodeficiency, and myelokathexis) | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| RBM41 | RNA binding motif protein 41 | \N | RBM41 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CXorf1 | chromosome X open reading frame 1 | 300565 | CXorf1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| BCORL1 | BCL6 co-repressor-like 1 | 300688 | BCORL1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CXorf21 | chromosome X open reading frame 21 | \N | CXorf21 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| OFD1 | oral-facial-digital syndrome 1 | 300170 | OFD1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MAMLD1 | mastermind-like domain containing 1 | 300120 | MAMLD1 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| LAS1L | LAS1-like (S. cerevisiae) | \N | LAS1L database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| NHEJ1 | nonhomologous end-joining factor 1 | 611290 | NHEJ1base: Mutation registry for Combined immunodeficiency (CID) associated with microcephaly and increased cellular sensitivity to IR | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| MAP7D3 | MAP7 domain containing 3 | \N | MAP7D3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TRMT2B | TRM2 tRNA methyltransferase 2 homolog B (S. cerevisiae) | \N | TRMT2B database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CYBA | cytochrome b-245, alpha polypeptide | 608508 | CYBAbase: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p22phox | Dirk Roos, Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| ARMCX5 | armadillo repeat containing, X-linked 5 | \N | ARMCX5 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CYBB | cytochrome b-245, beta polypeptide | 300481 | CYBBbase: Mutation registry for X-linked chronic granulomatous disease (previously known as X-CDGbase) | Dirk Roos, Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| ASMTL-AS1 | ASMTL antisense RNA 1 (non-protein coding) | \N | NCRNA00105 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CXorf36 | chromosome X open reading frame 36 | \N | CXorf36 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MAP7D2 | MAP7 domain containing 2 | \N | MAP7D2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CYP19A1 | cytochrome P450, family 19, subfamily A, polypeptide 1 | 107910 | Human Cytochrome P450 (CYP) Allele Nomenclature Committee | Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
| CYP1A1 | cytochrome P450, family 1, subfamily A, polypeptide 1 | 108330 | Human Cytochrome P450 (CYP) Allele Nomenclature Committee | Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
| ZNF280C | zinc finger protein 280C | \N | ZNF280C database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CYP1A2 | cytochrome P450, family 1, subfamily A, polypeptide 2 | 124060 | Human Cytochrome P450 (CYP) Allele Nomenclature Committee | Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
| NUP62CL | nucleoporin 62kDa C-terminal like | \N | NUP62CL database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CYP1B1 | cytochrome P450, family 1, subfamily B, polypeptide 1 | 601771 | Human Cytochrome P450 (CYP) Allele Nomenclature Committee | Magnus Ingeman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
| GDPD2 | glycerophosphodiester phosphodiesterase domain containing 2 | \N | GDPD2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CYP21A2 | cytochrome P450, family 21, subfamily A, polypeptide 2 | 201910 | Human Cytochrome P450 (CYP) Allele Nomenclature Committee | Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
| ZNF673 | zinc finger family member 673 | 300585 | ZNF673 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CYP26A1 | cytochrome P450, family 26, subfamily A, polypeptide 1 | 602239 | Human Cytochrome P450 (CYP) Allele Nomenclature Committee | Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
| SDHAF2 | succinate dehydrogenase complex assembly factor 2 | 613019 | TCA Cycle Gene Mutation Database - SDHAF2 | J.P.L. Bayley, Peter E.M. Taschner, Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands |
| GEMIN8 | gem (nuclear organelle) associated protein 8 | \N | GEMIN8 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CYP27A1 | cytochrome P450, family 27, subfamily A, polypeptide 1 | 606530 | Cerebrotendinous Xanthomatosis | Jorge Amigo Lechuga and María Jesús Sobrido |
| CYP2A13 | cytochrome P450, family 2, subfamily A, polypeptide 13 | 608055 | Human Cytochrome P450 (CYP) Allele Nomenclature Committee | Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
| ARMCX6 | armadillo repeat containing, X-linked 6 | \N | ARMCX6 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CYP2A6 | cytochrome P450, family 2, subfamily A, polypeptide 6 | 122720 | Human Cytochrome P450 (CYP) Allele Nomenclature Committee | Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
| TCEAL4 | transcription elongation factor A (SII)-like 4 | \N | TCEAL4 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PALB2 | partner and localizer of BRCA2 | 610355 | Fanconi Anaemia Mutation Database | Arleen Auerbach, Rockefeller University, New York, USA |
| CYP2B6 | cytochrome P450, family 2, subfamily B, polypeptide 6 | 123930 | Human Cytochrome P450 (CYP) Allele Nomenclature Committee | Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
| MTMR14 | myotubularin related protein 14 | 611089 | Leiden Muscular Dystrophy pages | Johan T den Dunnen Leiden Univ. Med Centre |
| CYP2C19 | cytochrome P450, family 2, subfamily C, polypeptide 19 | 124020 | Human Cytochrome P450 (CYP) Allele Nomenclature Committee | Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
| CYP2C8 | cytochrome P450, family 2, subfamily C, polypeptide 8 | 601129 | Human Cytochrome P450 (CYP) Allele Nomenclature Committee | Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
| CYP2C9 | cytochrome P450, family 2, subfamily C, polypeptide 9 | 601130 | Human Cytochrome P450 (CYP) Allele Nomenclature Committee | Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
| EFHC2 | EF-hand domain (C-terminal) containing 2 | \N | EFHC2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CXorf56 | chromosome X open reading frame 56 | \N | CXorf56 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CYP2D6 | cytochrome P450, family 2, subfamily D, polypeptide 6 | 124030 | Human Cytochrome P450 (CYP) Allele Nomenclature Committee | Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
| BBS10 | Bardet-Biedl syndrome 10 | 610148 | EURO-WABB Project Open Variation Database | Dewi Astuti |
| CYP2E1 | cytochrome P450, family 2, subfamily E, polypeptide 1 | 124040 | Human Cytochrome P450 (CYP) Allele Nomenclature Committee | Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
| CYP2F1 | cytochrome P450, family 2, subfamily F, polypeptide 1 | 124070 | Human Cytochrome P450 (CYP) Allele Nomenclature Committee | Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
| CYP2J2 | cytochrome P450, family 2, subfamily J, polypeptide 2 | 601258 | Human Cytochrome P450 (CYP) Allele Nomenclature Committee | Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
| CXorf58 | chromosome X open reading frame 58 | \N | CXorf58 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CYP3A4 | cytochrome P450, family 3, subfamily A, polypeptide 4 | 124010 | Human Cytochrome P450 (CYP) Allele Nomenclature Committee | Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
| ZNF645 | zinc finger protein 645 | \N | ZNF645 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| FMR1NB | fragile X mental retardation 1 neighbor | \N | FMR1NB database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CYP3A5 | cytochrome P450, family 3, subfamily A, polypeptide 5 | 605325 | Human Cytochrome P450 (CYP) Allele Nomenclature Committee | Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
| PTCHD1 | patched domain containing 1 | \N | PTCHD1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CYP3A7 | cytochrome P450, family 3, subfamily A, polypeptide 7 | 605340 | Human Cytochrome P450 (CYP) Allele Nomenclature Committee | Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
| HDX | highly divergent homeobox | \N | \N | http://www.LOVD.nl/HAUS7 Jacopo Celli Leiden Univ. Med Centre |
| CYP4A11 | cytochrome P450, family 4, subfamily A, polypeptide 11 | 601310 | Human Cytochrome P450 (CYP) Allele Nomenclature Committee | Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
| CYP4B1 | cytochrome P450, family 4, subfamily B, polypeptide 1 | 124075 | Human Cytochrome P450 (CYP) Allele Nomenclature Committee | Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
| FAAH2 | fatty acid amide hydrolase 2 | 300654 | FAAH2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CYP4F2 | cytochrome P450, family 4, subfamily F, polypeptide 2 | 604426 | Human Cytochrome P450 (CYP) Allele Nomenclature Committee | Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
| HGSNAT | heparan-alpha-glucosaminide N-acetyltransferase | 610453 | LOVD - Leiden Open Variation Database | Stéphanie Durand |
| MUM1L1 | melanoma associated antigen (mutated) 1-like 1 | \N | MUM1L1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| DOK7 | docking protein 7 | 610285 | DOK7 - Leiden Muscular Dystrophy pages | Tom Winder |
| BBS12 | Bardet-Biedl syndrome 12 | 610683 | EURO-WABB Project Open Variation Database | Dewi Astuti |
| CD55 | CD55 molecule, decay accelerating factor for complement (Cromer blood group) | 125240 | Blood Group Antigen Mutation Database | Olga O. Blumenfeld Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein College of MedicineNew York, NY. U.S.A |
| CD55 | CD55 molecule, decay accelerating factor for complement (Cromer blood group) | 125240 | CD55base: Mutation registry for Decay-accelerating factor (CD55) deficiency (previously known as DAFbase) | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| FAM47B | family with sequence similarity 47, member B | \N | FAM47B database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| DAG1 | dystroglycan 1 (dystrophin-associated glycoprotein 1) | 128239 | Leiden Muscular Dystrophy pages | JT den Dunnen |
| CXorf59 | chromosome X open reading frame 59 | \N | CXorf59 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| FAM133A | family with sequence similarity 133, member A | \N | FAM133A database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| FAM123B | family with sequence similarity 123B | 300647 | FAM123B database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| DBH | dopamine beta-hydroxylase (dopamine beta-monooxygenase) | 609312 | BIOMDB Database of Mutations Causing Tetrahydrobiopterin Deficiencies and PND | Nenad Blau, Beat Thony, Gajja Salomons, Support by Swiss National Science Foundation |
| DCTN1 | dynactin 1 (p150, glued homolog, Drosophila) | 601143 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
| DDC | dopa decarboxylase (aromatic L-amino acid decarboxylase) | 107930 | BIOMDB Database of Mutations Causing Tetrahydrobiopterin Deficiencies and PND | Nenad Blau, Beat Thony, Gajja Salomons, Support by Swiss National Science Foundation |
| ESCO2 | establishment of cohesion 1 homolog 2 (S. cerevisiae) | 609353 | ESCO2 database at LOVD | Birgitt Schuele, USA |
| H2BFWT | H2B histone family, member W, testis-specific | 300507 | H2BFWT database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CXorf30 | chromosome X open reading frame 30 | \N | CXorf30 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| FLCN | folliculin | 607273 | Folliculin (FLCN) variation database | Dr. Derek Lim, Prof. Eamonn Maher, European Birt-Hogg-Dube Consortium, University of Birmingham School of Medicine, UK |
| FLCN | folliculin | 607273 | The Folliculin Mutation Database | Database Administration |
| CXorf24 | chromosome X open reading frame 24 | \N | CXorf24 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CXorf28 | chromosome X open reading frame 28 | \N | CXorf28 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ANO5 | anoctamin 5 | 608662 | ANO5 - Leiden Muscular Dystrophy pages | Johan T. den Dunnen Leiden Univ. Med Centre |
| ANO5 | anoctamin 5 | 608662 | ANO5 LOVD - Leiden Open Variation Database | Véronique Bolduc |
| CXorf23 | chromosome X open reading frame 23 | \N | CXorf23 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| DDX3X | DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked | 300160 | DDX3X database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| DES | desmin | 125660 | Leiden Muscular Dystrophy Pages | Johan den Dunnen, LUMC, Leiden, Nederland |
| CFD | complement factor D (adipsin) | 134350 | CFDbase: Mutation registry for Factor D deficiency (previously known as DFbase) | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| CXXC1P1 | CXXC finger protein 1 pseudogene 1 | \N | CXorf25 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SATL1 | spermidine/spermine N1-acetyl transferase-like 1 | \N | SATL1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| DFNA5 | deafness, autosomal dominant 5 | 608798 | Hereditary Hearing Loss Homepage | Guy van Camp, Univ. of Antwerp, Antwerp, Belgium, Richard J.H. Smith, Univ. of Iowa, Hospitals & Clinics, Iowa city, U.S.A |
| PNMA6A | paraneoplastic antigen like 6A | \N | PNMA6A database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| UPRT | uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) | 300656 | UPRT database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| D2HGDH | D-2-hydroxyglutarate dehydrogenase | 609186 | D2HGDH database at LOVD | Gajja Salomons |
| MOSPD2 | motile sperm domain containing 2 | \N | MOSPD2 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| FAM46D | family with sequence similarity 46, member D | \N | FAM46D database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CT45A2 | cancer/testis antigen family 45, member A2 | 300793 | CT45A2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TMEM43 | transmembrane protein 43 | 612048 | ARVD/C Genes Variants Database | Paul van der Zwaag, Jan Jongbloed and Peter van Tintelen, Dept. of Genetics, Univ Med Center, Groningen, The Netherlands |
| TMEM43 | transmembrane protein 43 | 612048 | ARVD/C Genetic Variants Database | Paul van der Zwaag |
| MFSD8 | major facilitator superfamily domain containing 8 | 611124 | Neuronal Ceroid Lipofuscinoses; NCL Mutations | Sara E. Mole, MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom |
| BEND2 | BEN domain containing 2 | \N | BEND2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MAGEB18 | melanoma antigen family B, 18 | \N | MAGEB18 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CXorf22 | chromosome X open reading frame 22 | \N | CXorf22 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CXorf41 | chromosome X open reading frame 41 | \N | CXorf41 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CXorf38 | chromosome X open reading frame 38 | \N | CXorf38 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| DHCR7 | 7-dehydrocholesterol reductase | 602858 | Innsbruck Metabolic Diseases Pages | Barbara Lanthaler and Martina Witsch-Baumgartner |
| ARMCX4 | armadillo repeat containing, X-linked 4 | \N | ARMCX4 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| VSIG1 | V-set and immunoglobulin domain containing 1 | 300620 | VSIG1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TCEAL8 | transcription elongation factor A (SII)-like 8 | \N | TCEAL8 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| APOO | apolipoprotein O | 300753 | APOO database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| FUNDC1 | FUN14 domain containing 1 | \N | FUNDC1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| DIAPH1 | diaphanous homolog 1 (Drosophila) | 602121 | Hereditary Hearing Loss Homepage | Guy van Camp, Univ. of Antwerp, Antwerp, Belgium, Richard J.H. Smith, Univ. of Iowa , Hospitals & Clinics, Iowa city, U.S.A |
| DIAPH2 | diaphanous homolog 2 (Drosophila) | 300108 | DIAPH2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ZNF630 | zinc finger protein 630 | \N | ZNF630 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| NIPBL | Nipped-B homolog (Drosophila) | 608667 | NIPBL - LOVD | Jorge Oliveira, Unidade de Genética Molecular, Centro de Genética Médica J. Magalhães - INSA, Porto, Portugal; Johan T. den Dunnen Leiden Univ.Med Centre, Leiden, The Netherlands |
| MAGT1 | magnesium transporter 1 | 300715 | MAGT1 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| DKC1 | dyskeratosis congenita 1, dyskerin | 300126 | DKC1 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| DKC1 | dyskeratosis congenita 1, dyskerin | 300126 | DKC1base: Mutation registry for Hoyeraal-Hreidarsson syndrome | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| DKC1 | dyskeratosis congenita 1, dyskerin | 300126 | The Telomerase Database | Julian J-L Chen at Arizona State University |
| ITIH6 | inter-alpha-trypsin inhibitor heavy chain family, member 6 | \N | ITIH6 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CCDC22 | coiled-coil domain containing 22 | \N | CCDC22 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CCDC120 | coiled-coil domain containing 120 | \N | CCDC120 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| IQCB1 | IQ motif containing B1 | 609237 | Leiden Open Variation Database (IQCB1) | LOVD-Team , but with Curator vacancy |
| FRMPD4 | FERM and PDZ domain containing 4 | \N | FRMPD4 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| DLG3 | discs, large homolog 3 (Drosophila) | 300189 | DLG3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CEP290 | centrosomal protein 290kDa | 610142 | CEP290base | Frauke Coppieters Elfride De Baere |
| IQSEC2 | IQ motif and Sec7 domain 2 | 300522 | IQSEC2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PDS5A | PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) | 613200 | PDS5A database at LOVD | Johan T den Dunnen Leiden Univ. Med Centre |
| ADSL | adenylosuccinate lyase | 608222 | Adenylosuccinate Lyase Mutations Database Home Page | Georges Van Den Berghe, Christian De Duve Instutute for Cellular Pathology (ICP), University of Louvain Medical School, Belgium |
| SHROOM4 | shroom family member 4 | 300579 | SHROOM4 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| WWC3 | WWC family member 3 | \N | WWC3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| RGAG1 | retrotransposon gag domain containing 1 | \N | RGAG1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| DMD | dystrophin | 300377 | Leiden Muscular Dystrophy Pages | Johan T. den Dunnen, Leiden Univ.Med Centre, Leiden, The Netherlands |
| DMD | dystrophin | 300377 | The DMD mutations database UMD-DMD France | France Leturcq - Hôpital Cochin, Paris and Sylvie Tuffery-Giraud - Université Montpellier 1 |
| DMD | dystrophin | 300377 | Duchenne Muscular Dystrophy pages (whole exon changes) | Johan T. den Dunnen Leiden Univ.Med Centre, Leiden, The Netherlands |
| LRCH2 | leucine-rich repeats and calponin homology (CH) domain containing 2 | \N | LRCH2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| KLHL15 | kelch-like 15 (Drosophila) | \N | KLHL15 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| BHLHB9 | basic helix-loop-helix domain containing, class B, 9 | \N | BHLHB9 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ZMAT1 | zinc finger, matrin type 1 | \N | ZMAT1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| FRMPD3 | FERM and PDZ domain containing 3 | \N | FRMPD3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| DCAF12L1 | DDB1 and CUL4 associated factor 12-like 1 | \N | DCAF12L1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SH3TC2 | SH3 domain and tetratricopeptide repeats 2 | 608206 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
| RGAG4 | retrotransposon gag domain containing 4 | \N | RGAG4 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| KIAA2022 | KIAA2022 | 300524 | KIAA2022 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TMEM27 | transmembrane protein 27 | 300631 | TMEM27 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| DNASE1L1 | deoxyribonuclease I-like 1 | 300081 | DNASE1L1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| IRGM | immunity-related GTPase family, M | 608212 | Mendelian genes (IRGM) | LOVD-Team , but with Curator vacancy |
| MLPH | melanophilin | 606526 | MLPHbase: Mutation registry for Griscelli syndrome, type 3 (GS3) | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| DNM2 | dynamin 2 | 602378 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
| DNM2 | dynamin 2 | 602378 | Leiden Muscular Dystrophy pages | Johan T den Dunnen Leiden Univ. Med Centre |
| DNMT3B | DNA (cytosine-5-)-methyltransferase 3 beta | 602900 | DNMT3Bbase: Mutation registry for ICF syndrome | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| TCEAL2 | transcription elongation factor A (SII)-like 2 | \N | TCEAL2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| XKRX | XK, Kell blood group complex subunit-related, X-linked | 300684 | XKRX database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CHRDL1 | chordin-like 1 | 300350 | CHRDL1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| NKAP | NFKB activating protein | 300766 | NKAP database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ISCU | iron-sulfur cluster scaffold homolog (E. coli) | 611911 | Leiden Muscular Dystrophy pages | Johan T den Dunnen Leiden Univ. Med Centre |
| DPAGT1 | dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) | 191350 | Congenital Disorders of Glycosylation pages | Gert Matthijs, Center for Human Genetics Leuven, Belgium |
| FAM47A | family with sequence similarity 47, member A | \N | FAM47A database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| BBS9 | Bardet-Biedl syndrome 9 | 607968 | EURO-WABB Project Open Variation Database | Dewi Astuti |
| PIR | pirin (iron-binding nuclear protein) | 603329 | PIR database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| DPM1 | dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit | 603503 | Congenital Disorder of Glycosylation pages | Gert Matthijs, Center for Human Genetics, Leuven, Belgium |
| DPM3 | dolichyl-phosphate mannosyltransferase polypeptide 3 | 605951 | Leiden Muscular Dystrophy pages | Johan T den Dunnen Leiden Univ. Med Centre |
| DPYD | dihydropyrimidine dehydrogenase | 274270 | UMD Locus Specific Databases | Jean Christophe Boyer, Nimes, France |
| HSPB8 | heat shock 22kDa protein 8 | 608014 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
| GTPBP6 | GTP binding protein 6 (putative) | 300124 | GTPBP6 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| GPR174 | G protein-coupled receptor 174 | \N | GPR174 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PNPO | pyridoxamine 5'-phosphate oxidase | 603287 | BIOMDB Database of Mutations Causing Tetrahydrobiopterin Deficiencies and PND | Nenad Blau, Beat Thony, Gajja Salomons, Support by Swiss National Science Foundation |
| RPA4 | replication protein A4, 30kDa | 300767 | RPA4 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| DRP2 | dystrophin related protein 2 | 300052 | DRP2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| RPL9P7 | ribosomal protein L9 pseudogene 7 | \N | RPL9P7 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| DSC2 | desmocollin 2 | 125645 | ARVD/C Genes Variants Database | Paul van der Zwaag, Jan Jongbloed and Peter van Tintelen, Dept. of Genetics, Univ Med Center, Groningen, The Netherlands |
| SAGE1 | sarcoma antigen 1 | 300359 | SAGE1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| FOXR2 | forkhead box R2 | \N | FOXR2 database at LOVD | Jacopo Celli Leiden Univ. Med Centre (acting), Curator vacancy |
| DSG2 | desmoglein 2 | 125671 | ARVD/C Genes Variants Database | Paul van der Zwaag, Jan Jongbloed and Peter van Tintelen, Dept. of Genetics, Univ Med Center, Groningen, The Netherlands |
| FAM122B | family with sequence similarity 122B | \N | FAM122B database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| WDR44 | WD repeat domain 44 | \N | WDR44 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| DSP | desmoplakin | 125647 | ARVD/C Genes Variants Database | Paul van der Zwaag, Jan Jongbloed and Peter van Tintelen, Dept. of Genetics, Univ Med Center, Groningen, The Netherlands |
| SLC25A43 | solute carrier family 25, member 43 | 300641 | SLC25A43 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| DTNA | dystrobrevin, alpha | 601239 | Leiden Muscular Dystrophy Pages | Johan T. den Dunnen, Leiden Univ.Med Centre, Leiden, The Netherlands |
| SPSB1 | splA/ryanodine receptor domain and SOCS box containing 1 | 611657 | LOVD 3.0 shared installation (SPSB1) | LOVD-Team , but with Curator vacancy |
| SRPX2 | sushi-repeat-containing protein, X-linked 2 | 300642 | SRPX2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| GPKOW | G patch domain and KOW motifs | \N | GPKOW database at LOVD | Jacopo Celli Leiden Univ. Med Centre (acting), Curator vacancy |
| TAB3 | TGF-beta activated kinase 1/MAP3K7 binding protein 3 | 300480 | TAB3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| FAM155B | family with sequence similarity 155, member B | \N | FAM155B database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PRRG3 | proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) | 300685 | PRRG3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TMIE | transmembrane inner ear | 607237 | CCHMC - Human Genetics Mutation Database | Ammar Husami |
| ALG13 | asparagine-linked glycosylation 13 homolog (S. cerevisiae) | 300776 | ALG13 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| FAM45B | family with sequence similarity 45, member B | \N | FAM45B database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| HUWE1 | HECT, UBA and WWE domain containing 1 | 300697 | HUWE1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| BEX2 | brain expressed X-linked 2 | 300691 | BEX2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SIAH1P1 | siah E3 ubiquitin protein ligase 1 pseudogene 1 | \N | X-Chromosome gene database - SIAH1L | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| DYSF | dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) | 603009 | Leiden Muscular Dystrophy Pages | Johan T. den Dunnen, Leiden Univ. Med Centre, Leiden, The Netherlands |
| EDA | ectodysplasin A | 300451 | EDA database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| YY2 | YY2 transcription factor | 300570 | YY2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MAP3K15 | mitogen-activated protein kinase kinase kinase 15 | \N | MAP3K15 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| NAP1L6 | nucleosome assembly protein 1-like 6 | \N | NAP1L6 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| UBE2NL | ubiquitin-conjugating enzyme E2N-like | \N | UBE2NL database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| GLRA4 | glycine receptor, alpha 4 | \N | GLRA4 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ZCCHC13 | zinc finger, CCHC domain containing 13 | \N | ZCCHC13 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| EDN3 | endothelin 3 | 131242 | EDN3 database at LOVD | Veronique Pingault Laboratoire de Biochimie et Génétique, Hopital Henri Mondor Creteil cedex, France |
| NCBP2L | nuclear cap binding protein subunit 2-like | \N | NCBP2L database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| EDNRB | endothelin receptor type B | 131244 | EDNRB database at LOVD | Veronique Pingault Laboratoire de Biochimie et Génétique, Hopital Henri Mondor Creteil cedex, France |
| DCAF8L1 | DDB1 and CUL4 associated factor 8-like 1 | \N | DCAF8L1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| RPS26P11 | ribosomal protein S26 pseudogene 11 | \N | RPS26P11 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| EFEMP1 | EGF-containing fibulin-like extracellular matrix protein 1 | 601548 | Mutations of the EGF-containing fibulin-like extracellular matrix protein 1 | Retina International |
| EFNB1 | ephrin-B1 | 300035 | EFNB1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| EGFL6 | EGF-like-domain, multiple 6 | 300239 | EGFL6 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| EGR2 | early growth response 2 | 129010 | Mutation Database of Inherited Peripheral Neuropathies | Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
| EIF2AK3 | eukaryotic translation initiation factor 2-alpha kinase 3 | 604032 | EURO-WABB Project Open Variation Database | Dewi Astuti |
| EIF2S3 | eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa | 300161 | EIF2S3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| AGRN | agrin | 103320 | AGRN - Leiden Muscular Dystrophy pages | ddunnen@LUMC.nl, tom.winder@preventiongenetics.com |
| DCAF12L2 | DDB1 and CUL4 associated factor 12-like 2 | \N | DCAF12L2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| HAUS7 | HAUS augmin-like complex, subunit 7 | 300540 | HAUS7 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ELANE | elastase, neutrophil expressed | 130130 | ELA2base: Mutation registry for Cyclic and congenital neutropenia | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| ELANE | elastase, neutrophil expressed | 130130 | CCHMC - Human Genetics Mutation Database | Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
| SPANXN1 | SPANX family, member N1 | 300664 | SPANXN1 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SPANXN4 | SPANX family, member N4 | 300667 | SPANXN4 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ELF4 | E74-like factor 4 (ets domain transcription factor) | 300775 | ELF4 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ELK1 | ELK1, member of ETS oncogene family | 311040 | ELK1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| TMEM114 | transmembrane protein 114 | 611579 | TMEM114 database at LOVD | Johan T den Dunnen Leiden Univ. Med Centre |
| CT45A5 | cancer/testis antigen family 45, member A5 | 300796 | CT45A5 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| EMD | emerin | 300384 | Leiden Muscular Dystrophy Pages | Johan T. den Dunnen, Leiden Univ.Med Centre, Leiden, The Netherlands |
| EMD | emerin | 300384 | The UMD EMD mutations database | G. Bonne, France |
| GLOD5 | glyoxalase domain containing 5 | \N | GLOD5 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ENG | endoglin | 131195 | Hereditary Hemorrhagic Telangiectasia (HHT) Mutation Database | Pinar Bayrak-Toydemir, University of Utah, ARUP Laboratories |
| CXorf65 | chromosome X open reading frame 65 | \N | CXorf65 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| EP300 | E1A binding protein p300 | 602700 | EP300 - Rubinstein-Taybi Syndrome (RSTS) | Dorien Peters, Clinical Genetics, LUMC, Leiden |
| NHSL2 | NHS-like 2 | \N | NHSL2 database at LOVD | http://www.LOVD.nl/NHSL2 |
| CXorf66 | chromosome X open reading frame 66 | \N | CXorf66 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| AGTR2 | angiotensin II receptor, type 2 | 300034 | AGTR2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| HLA-Y | major histocompatibility complex, class I, Y (pseudogene) | \N | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| ABCA4 | ATP-binding cassette, sub-family A (ABC1), member 4 | 601691 | Mutations of the ATP-binding Cassette Transporter Retina | Retina International |
| ERCC2 | excision repair cross-complementing rodent repair deficiency, complementation group 2 | 126340 | Excision repair cross-complementing rodent repair deficiency, complementati (ERCC2) database | Belinda Giardine and Joseph Borg |
| CXorf64 | chromosome X open reading frame 64 | \N | CXorf64 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| EXT1 | exostoses (multiple) 1 | 608177 | Multiple Osteochondroma Mutation Database | Database Administrators |
| EXT2 | exostoses (multiple) 2 | 608210 | Multiple Osteochondroma Mutation Database | Database Administrators |
| EYA4 | eyes absent homolog 4 (Drosophila) | 603550 | Hereditary Hearing Loss Homepage | Guy van Camp, Univ. of Antwerp, Antwerp, Belgium, Richard J.H. Smith, Univ. of Iowa, Hospitals & Clinics, Iowa city, U.S.A |
| EZH2 | enhancer of zeste homolog 2 (Drosophila) | 601573 | Mendelian genes (EZH2) | LOVD-Team , but with Curator vacancy |
| F12 | coagulation factor XII (Hageman factor) | 610619 | F12base: Mutation registry for Hereditary angioedema type III | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| F8 | coagulation factor VIII, procoagulant component | 306700 | The Haemophilia A Mutation, Structure, Test & Resource Site (HAMSTeRS) | Dr Geoffrey Kemball-Cook |
| F8 | coagulation factor VIII, procoagulant component | 306700 | F8 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| F8 | coagulation factor VIII, procoagulant component | 306700 | F8 Mutation Registry at Hemobase | Francisco Vidal, Lorena Ramirez |
| F9 | coagulation factor IX | 300746 | F9 Mutation Registry at Hemobase | Francisco Vidal, Lorena Ramirez |
| F9 | coagulation factor IX | 300746 | Haemophilia B Mutation Database | P.M Green, F. Giannelli, Division of Genetics & Development, 7th Floor Guys Tower, GKT School of Medicine, Guy's Hospital London SE1 9RT Unitd Kingdom and consortium |
| F9 | coagulation factor IX | 300746 | F9 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ACSL4 | acyl-CoA synthetase long-chain family member 4 | 300157 | ACSL4 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| FANCA | Fanconi anemia, complementation group A | 607139 | Fanconi Anaemia Mutation Database | Arleen D. Auerbach, PhD, The Rockefeller University, NY; Detlev Schindler,MD,PhD, University of Wuerzburg, Germany and consortium |
| FANCB | Fanconi anemia, complementation group B | 300515 | Fanconi Anaemia Mutation Database | Arleen D. Auerbach, PhD The Rockefeller University, NY Detlev Schindler,MD,PhD University of Wuerzburg, Germany and consortium |
| FANCC | Fanconi anemia, complementation group C | 227645 | Fanconi Anaemia Mutation Database | Arleen D. Auerbach, PhD, The Rockefeller University, NY; Detlev Schindler,MD,PhD, University of Wuerzburg, Germany and consortium |
| FANCD2 | Fanconi anemia, complementation group D2 | 227646 | Fanconi Anaemia Mutation Database | Arleen D. Auerbach, PhD, The Rockefeller University, NY; Detlev Schindler,MD,PhD, University of Wuerzburg, Germany and consortium |
| FANCE | Fanconi anemia, complementation group E | 600901 | Fanconi Anaemia Mutation Database | Arleen D. Auerbach, PhD, The Rockefeller University, NY; Detlev Schindler,MD,PhD, University of Wuerzburg, Germany and consortium |
| FANCF | Fanconi anemia, complementation group F | 603467 | Fanconi Anaemia Mutation Database | Arleen D. Auerbach, PhD, The Rockefeller University, NY; Detlev Schindler,MD,PhD, University of Wuerzburg, Germany and consortium |
| FANCG | Fanconi anemia, complementation group G | 602956 | Fanconi Anaemia Mutation Database | Arleen D. Auerbach, PhD, The Rockefeller University, NY; Detlev Schindler,MD,PhD, University of Wuerzburg, Germany and consortium |
| AIPL1 | aryl hydrocarbon receptor interacting protein-like 1 | 604392 | Mutations of the Aryl Hydrocarbon Receptor-interacting Protein-like 1 | Retina International |
| AIRE | autoimmune regulator | 607358 | AIREbase: Mutation registry for APECED | Mauno Vihinen, Pärt Peterson, Univ. of Tampere, Finland |
| FBN1 | fibrillin 1 | 134797 | The UMD FBN1 mutations database | Gwenaelle Collod-Beroud, Laboratoire de génétique Moléculaire et Chromosomique, Montpellier, France |
| FBN2 | fibrillin 2 | 612570 | The UMD FBN2 mutations database | G. Collod-Béroud |
| FCGR1A | Fc fragment of IgG, high affinity Ia, receptor (CD64) | 146760 | FCGR1Abase: Mutation registry for CD64 deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| FCGR3A | Fc fragment of IgG, low affinity IIIa, receptor (CD16a) | 146740 | FCGR3Abase: Mutation registry for Natural killer cell deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| FKTN | fukutin | 607440 | FCMD - Fukuyama type congenital muscular dystrophy | Johan T. den Dunnen, Leiden Univ. Med Centre, Leiden, The Netherlands & Rosário dos Santos, Centro de Genética Médica J., Magalhães, INSA, Portugal |
| FGA | fibrinogen alpha chain | 134820 | A Database For Human Fibrinogen Variants | Michel Hanss, Laboratoire d’hématologie, Hospices Civils de Lyon, France |
| FGB | fibrinogen beta chain | 134830 | A Database For Human Fibrinogen Variants | Michel Hanss, Laboratoire d’hématologie, Hospices Civils de Lyon, France |
| FGD1 | FYVE, RhoGEF and PH domain containing 1 | 300546 | FGD1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| FGG | fibrinogen gamma chain | 134850 | A Database For Human Fibrinogen Variants | Michel Hanss, Laboratoire d’hématologie, Hospices Civils de Lyon, France |
| FH | fumarate hydratase | 136850 | TCA Cycle Gene Mutation Database -FH | Jean-Pierre Bayley, LUMC, Leiden |
| FHL1 | four and a half LIM domains 1 | 300163 | Leiden Muscular Dystrophy Pages | Johan T. den Dunnen Leiden Univ.Med Centre, Leiden, The Netherlands |
| ATP8B1 | ATPase, aminophospholipid transporter, class I, type 8B, member 1 | 602397 | CCHMC - Human Genetics Mutation Database | Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
| FIGF | c-fos induced growth factor (vascular endothelial growth factor D) | 300091 | FIGF database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ISPD | isoprenoid synthase domain containing | 614631 | Leiden Muscular Dystrophy pages (ISPD) | Johan T den Dunnen Leiden Univ. Med Centre |
| AKAP4 | A kinase (PRKA) anchor protein 4 | 300185 | AKAP4 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| FLNA | filamin A, alpha | 300017 | Filamin A, alpha (FLNA) Mental Retardation Database | Johan T. den Dunnen Leiden Univ. Med Centre, Leiden, The Netherlands |
| FLNC | filamin C, gamma | 102565 | Leiden Muscular Dystrophy pages | Johan T den Dunnen Leiden Univ. Med Centre |
| FLT1 | fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) | 165070 | Fms-related tyrosine kinase 1 (FLT1) database | Belinda Giardine and Joseph Borg |
| FMO3 | flavin containing monooxygenase 3 | 136132 | The Homo sapients FMO3 Allelic Variant Database | Elizabeth A. Shephard, Sarah Addou, Dept. Biochem. & Molecular Biol. Univ. College London. UK; Ian R. Phillips Sch. Bio. Sc. Queen Mary, Univ. of London , UK |
| FMR1 | fragile X mental retardation 1 | 309550 | FMR1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| AFF2 | AF4/FMR2 family, member 2 | 309548 | AFF2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| AKAP9 | A kinase (PRKA) anchor protein (yotiao) 9 | 604001 | Zhejiang University-Adinovo Center AKAP9 Database | Ming Qi, PhD, FACMG, Peikuan Cong, Yudong Gao and Tao Zhang |
| FSCN2 | fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) | 607643 | Mutations of the Fascin Gene | Retina International |
| CENPI | centromere protein I | 300065 | CENPI database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| FTHL17 | ferritin, heavy polypeptide-like 17 | 300308 | FTHL17 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ALB | albumin | 103600 | Albumin mutation database | Prof. Ulrich Kragh-Hansen, University of Aarhus, Aarhus, Denmark, and Dr. Theodore Peters, Jr., Bassett Healthcare, Cooperstown, NY, USA |
| FUS | fused in sarcoma | 137070 | Alzheimer Disease & Frontotemporal Dementia Mutation Database | Marc Cruts & Nathalie Brouwers Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
| FUT1 | fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) | 211100 | Blood Group Antigen Mutation Database | Olga O. Blumenfeld, Dept. of Biochemistry, Santosh Patnaik, Dept. of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A |
| FUT2 | fucosyltransferase 2 (secretor status included) | 182100 | Blood Group Antigen Mutation Database | Olga O. Blumenfeld, Dept. of Biochemistry; Santosh Patnaik, Dept. of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A |
| FUT3 | fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) | 111100 | Blood Group Antigen Mutation Database | Olga O. Blumenfeld, Dept. of Biochemistry, Santosh Patnaik, Dept. of Cell Biology,Albert Einstein College of Medicine, New York, NY. U.S.A |
| FUT6 | fucosyltransferase 6 (alpha (1,3) fucosyltransferase) | 136836 | Blood Group Antigen Mutation Database | Olga O. Blumenfeld, Dept. of Biochemistry, Santosh Patnaik, Dept. of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A |
| FUT7 | fucosyltransferase 7 (alpha (1,3) fucosyltransferase) | 602030 | Blood Group Antigen Mutation Database | Olga O. Blumenfeld, Dept. of Biochemistry, Santosh Patnaik, Dept. of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A |
| ALDH1A1 | aldehyde dehydrogenase 1 family, member A1 | 100640 | Human Polymorphisms of ALDH Genes | Vasilis Vasiliou, Agi Pappa, Univ. Colorado Health Sci. Center, Denver, U.S.A. |
| DARC | Duffy blood group, chemokine receptor | 110700 | Blood Group Antigen Mutation Database | Olga O. Blumenfeld, Dept. of Biochemistry, Santosh Patnaik, Dept. of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A |
| ALDH2 | aldehyde dehydrogenase 2 family (mitochondrial) | 100650 | Human Polymorphisms of ALDH Genes | Vasilis Vasiliou, Agi Pappa, Univ. Colorado Health Sci. Center, Denver, U.S.A. |
| ALDH3A1 | aldehyde dehydrogenase 3 family, member A1 | 100660 | Human Polymorphisms of ALDH Genes | Vasilis Vasiliou, Agi Pappa, Univ. Colorado Health Sci. Center, Denver, U.S.A. |
| G6PD | glucose-6-phosphate dehydrogenase | 305900 | G6PD database at LOVD | Mental Retardation database |
| G6PD | glucose-6-phosphate dehydrogenase | 305900 | G6PD Mutations | Colin Kwok, Department of Biochemistry, Faculty of Medicine, The University of Hong Kong & Andrew C.R. Martin, Department of Biochemistry and Molecular Biology, University College London |
| ALDH4A1 | aldehyde dehydrogenase 4 family, member A1 | 606811 | Human Polymorphisms of ALDH Genes | Vasilis Vasiliou, Agi Pappa, Univ. Colorado Health Sci. Center, Denver, U.S.A. |
| GAA | glucosidase, alpha; acid | 606800 | GAA - Pompe disease (glycogen storage disease type II) | Johan T. den Dunnen, LUMC, The Netherlands, Arnold Reuser & Marian Kroos, EUR, Rotterdam, Nederland |
| GAA | glucosidase, alpha; acid | 606800 | CCHMC - Human Genetics Mutation Database | Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
| ALDH5A1 | aldehyde dehydrogenase 5 family, member A1 | 610045 | Succinic semialdehyde dehydrogenase (ALDH5A1) Variation Database | Gajja Salomons |
| GABRE | gamma-aminobutyric acid (GABA) A receptor, epsilon | 300093 | GABRE database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PAGE1 | P antigen family, member 1 (prostate associated) | 300288 | PAGE1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PAGE3 | P antigen family, member 3 (prostate associated) | 300739 | PAGE3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ALDH9A1 | aldehyde dehydrogenase 9 family, member A1 | 602733 | Human Polymorphisms of ALDH Genes | Vasilis Vasiliou, Agi Pappa Univ. Colorado Health Sci. Center, Denver, U.S.A. |
| GALT | galactose-1-phosphate uridylyltransferase | 606999 | Galactosaemia | Linda Tyfield, David Carmichael, Inst. Child Health, Univ. Bristol, Bristol, UK |
| GALT | galactose-1-phosphate uridylyltransferase | 606999 | Galactose-1-Phosphate Uridyl Transferase (GALT) Mutation Database | Rong Mao and Fernanda Calderon, Department of Pathology, University of Utah, USA. |
| GAMT | guanidinoacetate N-methyltransferase | 601240 | Guanidinoacetate N-methyltransferase (GAMT) Variation Database | Gajja Salomons |
| GAN | gigaxonin | 605379 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
| GARS | glycyl-tRNA synthetase | 600287 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
| ALDOB | aldolase B, fructose-bisphosphate | 229600 | Hereditary Fructose Intolerance/Aldolase | Dean R. Tolan, Boston Univ., U.S.A. |
| GATM | glycine amidinotransferase (L-arginine:glycine amidinotransferase) | 602360 | Guanidinoacetate N-methyltransferase (GAMT) Variation Database | Gajja Salomons |
| GBA | glucosidase, beta, acid | 606463 | CCHMC - Human Genetics Mutation Database | Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
| GCH1 | GTP cyclohydrolase 1 | 600225 | GTP Cyclohydrolase I deficiency; BIOMED/BIODEF database | N. Blau, Univ. Children's Hospital,Zurich, J.L. Dhont- Faculté libre de Médicine,Lille |
| GCK | glucokinase (hexokinase 4) | 138079 | Monogenic Diabetes | Monique Losekoot and Vincent Janmaat |
| ABCB11 | ATP-binding cassette, sub-family B (MDR/TAP), member 11 | 603201 | CCHMC - Human Genetics Mutation Database | Ammar Husami |
| GCNT2 | glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) | 600429 | GCNT2 database at LOVD | Johan T den Dunnen Leiden Univ. Med Centre |
| OPN1MW | opsin 1 (cone pigments), medium-wave-sensitive | 303800 | Mutations of the Photopigments - Red (RCP), Green (GCP), and Blue Cone Pigment (BCP) | Retina International |
| MSTN | myostatin | 601788 | Leiden Muscular Dystrophy Pages | Willem Hoogaars & Johan den Dunnen |
| GFI1 | growth factor independent 1 transcription repressor | 600871 | GFI1base: Mutation registry for SCN and NI-CINA | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| GHR | growth hormone receptor | 600946 | LOVD growth | LA Metherell and MO Savage |
| GJA1 | gap junction protein, alpha 1, 43kDa | 121014 | Hereditary Hearing Loss Homepage | Guy van Camp, Univ. of Antwerp, Antwerp, Belgium, Richard J.H. Smith, Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A |
| GJA1 | gap junction protein, alpha 1, 43kDa | 121014 | The Connexin-deafness homepage | Ester Ballana, Marina Ventayol, Paolo Gasparini, Xavier Estivill, (CRG) Barcelona Spain |
| GJA3 | gap junction protein, alpha 3, 46kDa | 121015 | GJA3 database at LOVD | Johan T den Dunnen Leiden Univ. Med Centre |
| ALMS1 | Alstrom syndrome 1 | 606844 | EURO-WABB Project Open Variation Database | Dewi Astuti |
| GJA8 | gap junction protein, alpha 8, 50kDa | 600897 | GJA8 database at LOVD | Johan T den Dunnen Leiden Univ. Med Centre |
| GJB1 | gap junction protein, beta 1, 32kDa | 304040 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
| GJB1 | gap junction protein, beta 1, 32kDa | 304040 | The Connexin-deafness homepage | Ester Ballana, Marina Ventayol, Paolo Gasparini, Xavier Estivill, (CRG) Barcelona Spain |
| GJB2 | gap junction protein, beta 2, 26kDa | 121011 | The UMD DFNB1-GJB2 mutations database | A.-F. Roux and D. Baux |
| GJB2 | gap junction protein, beta 2, 26kDa | 121011 | CCHMC - Human Genetics Mutation Database | Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
| GJB2 | gap junction protein, beta 2, 26kDa | 121011 | Hereditary Hearing Loss Homepage | Guy van Camp, Univ. of Antwerp, Antwerp, Belgium, Richard J.H. Smith, Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A |
| GJB2 | gap junction protein, beta 2, 26kDa | 121011 | The Connexin-deafness homepage | Ester Ballana, Marina Ventayol, Paolo Gasparini, Xavier Estivill, (CRG) Barcelona Spain |
| GJB3 | gap junction protein, beta 3, 31kDa | 603324 | The Connexin-deafness homepage | Ester Ballana, Marina Ventayol, Paolo Gasparini, Xavier Estivill, (CRG) Barcelona Spain |
| GJB3 | gap junction protein, beta 3, 31kDa | 603324 | Hereditary Hearing Loss Homepage | Guy van Camp, Univ. of Antwerp, Antwerp, Belgium, Richard J.H. Smith, Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A |
| GJB6 | gap junction protein, beta 6, 30kDa | 604418 | Hereditary Hearing Loss Homepage | Guy van Camp, Univ. of Antwerp, Antwerp, Belgium; Richard J.H. Smith, Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A |
| GJB6 | gap junction protein, beta 6, 30kDa | 604418 | CCHMC - Human Genetics Mutation Database | Ammar Husami and Theru A. Sivakumaran |
| GJB6 | gap junction protein, beta 6, 30kDa | 604418 | The Connexin-deafness homepage | Ester Ballana, Marina Ventayol, R Rabionet, Paolo Gasparini, Xavier Estivill, (CRG) Barcelona Spain |
| GK | glycerol kinase | 300474 | Leiden Muscular Dystrophy pages | Johan T. den Dunnen Leiden Univ. Med Centre |
| GLA | galactosidase, alpha | 300644 | GLA database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| GLA | galactosidase, alpha | 300644 | CCHMC - Human Genetics Mutation Database | Ammar Husami and Theru A. Sivakumaran |
| TAP1 | transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) | 170260 | TAP1base: Mutation registry for TAP1 deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| TAP1 | transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) | 170260 | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| GLRA1 | glycine receptor, alpha 1 | 138491 | GLRA1 database at LOVD | Ieke Ginjaar & Vincent Janmaat, LUMC, Leiden, The Netherlands |
| GLRA2 | glycine receptor, alpha 2 | 305990 | GLRA2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| GLUD2 | glutamate dehydrogenase 2 | 300144 | GLUD2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ALOX5AP | arachidonate 5-lipoxygenase-activating protein | 603700 | arachidonate 5-Lipoxygenase-activating protein (ALOX5AP) database | Belinda Giardine and Joseph Borg |
| GM2A | GM2 ganglioside activator | 272750 | GM2A Locus Database | F. Kaplan, Paulo Cordeiro, McGill University, Montreal, Canada |
| ALPL | alkaline phosphatase, liver/bone/kidney | 171760 | Tissue Nonspecific Alkaline Phosphatase Gene Mutation Database | Etienne Mornet, Laboratoire SESEP, Universite de Versailles, Versailles, France |
| GNAL | guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type | 139312 | LOVD 3.0 shared installation (GNAL) | Satya R. Vemula, University of Tennessee |
| GNAS | GNAS complex locus | 139320 | LOVD - Leiden Open Variation Database | Johan T. den Dunnen |
| GNAT2 | guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 | 139340 | Mutations of the Transducin Subunits | Retina International |
| TAP2 | transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) | 170261 | TAP2base: Mutation registry for TAP2 deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| TAP2 | transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) | 170261 | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| GP1BB | glycoprotein Ib (platelet), beta polypeptide | 138720 | Bernard-Soulier Syndrome database | Dermot Kenny, Royal College of Surgeons in Ireland |
| GP9 | glycoprotein IX (platelet) | 173515 | Bernard-Soulier Syndrome database | Dermot Kenny, Royal College of Surgeons in Ireland |
| SETX | senataxin | 608465 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB,) University of Antwerp (UA), Belgium |
| SETX | senataxin | 608465 | UCLA Neurogenetics SETX Database | Abhishek Goel, Giovanni Coppola, and Brent Fogel |
| GPC4 | glypican 4 | 300168 | GPC4 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| GPM6B | glycoprotein M6B | 300051 | GPM6B database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| GPM6B | glycoprotein M6B | 300051 | Glycoprotein M6B (GPM6B) database | Belinda Giardine and Joseph Borg |
| ZBED1 | zinc finger, BED-type containing 1 | 300178 | ZBED1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| LPAR4 | lysophosphatidic acid receptor 4 | 300086 | LPAR4 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ABCB4 | ATP-binding cassette, sub-family B (MDR/TAP), member 4 | 171060 | CCHMC - Human Genetics Mutation Database | Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
| GPR50 | G protein-coupled receptor 50 | 300207 | GPR50 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| GPR64 | G protein-coupled receptor 64 | 300572 | GPR64 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| GPR82 | G protein-coupled receptor 82 | 300748 | GPR82 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| GRIA3 | glutamate receptor, ionotrophic, AMPA 3 | 305915 | GRIA3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| GRN | granulin | 138945 | Alzheimer Disease & Frontotemporal Dementia Mutation Database | Marc Cruts & Nathalie Brouwers Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
| GRPR | gastrin-releasing peptide receptor | 305670 | GRPR database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| AMELX | amelogenin, X-linked | 300391 | AMELX database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| GSPT2 | G1 to S phase transition 2 | 300418 | GSPT2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| AMMECR1 | Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 | 300195 | AMMECR1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| GUCY2D | guanylate cyclase 2D, membrane (retina-specific) | 600179 | Mutations of the Retinal Guanylate Cyclase Gene and the Retinal Guanylate Cyclase-activating Protein Gene | Retina International |
| GUCY2F | guanylate cyclase 2F, retinal | 300041 | GUCY2F database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| GYG2 | glycogenin 2 | 300198 | GYG2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| GYPA | glycophorin A (MNS blood group) | 111300 | Blood Group Antigen Mutation Database | Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A |
| GYPB | glycophorin B (MNS blood group) | 111740 | Blood Group Antigen Mutation Database | Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A |
| GYPC | glycophorin C (Gerbich blood group) | 110750 | Blood Group Antigen Mutation Database | Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A |
| GYPE | glycophorin E (MNS blood group) | 138590 | Blood Group Antigen Mutation Database | Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A |
| ABCB7 | ATP-binding cassette, sub-family B (MDR/TAP), member 7 | 300135 | ABCB7 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| HSD17B10 | hydroxysteroid (17-beta) dehydrogenase 10 | 300256 | HSD17B10 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| HSD17B10 | hydroxysteroid (17-beta) dehydrogenase 10 | 300256 | Innsbruck Metabolic Diseases Pages | Johannes Zschocke, Barbara Lanthaler and Martina Witsch-Baumgartner |
| HAO2 | hydroxyacid oxidase 2 (long chain) | 605176 | Hydroxyacid oxidase 2 (long chain) (HAO2) database | Belinda Giardine and Joseph Borg |
| HBA1 | hemoglobin, alpha 1 | 141800 | HbVar: A Database of Human Hemoglobin Variants and Thalassemias | Nick Anagnou IMBB, FORTH, Crete, Greece, David Chui, Boston Univ Med Cnt, USA, Ross Hardison, Dept. Biochem & Mol Biol, Penn State Univ USA, George Patrinos, Erasmus MC, the Netherlands, Henri Wajcman INSERM, Hôpital Henri Mondor, France |
| HBA1 | hemoglobin, alpha 1 | 141800 | Alpha-1 globin (HBA1) database | Belinda Giardine and Joseph Borg |
| HBA2 | hemoglobin, alpha 2 | 141850 | HbVar: A Database of Human Hemoglobin Variants and Thalassemias | Nick Anagnou IMBB, FORTH, Crete, Greece, David Chui, Boston Univ Med Cnt, USA, Ross Hardison, Dept. Biochem & Mol Biol, Penn State Univ USA, George Patrinos, Erasmus MC, the Netherlands, Henri Wajcman INSERM, Hôpital Henri Mondor, France |
| HBA2 | hemoglobin, alpha 2 | 141850 | Alpha-2 globin (HBA2) database | Belinda Giardine and Joseph Borg |
| HBB | hemoglobin, beta | 141900 | Beta globin (HBB) database | Belinda Giardine and Joseph Borg |
| HBB | hemoglobin, beta | 141900 | HbVar: A Database of Human Hemoglobin Variants and Thalassemias | Nick Anagnou IMBB, FORTH, Crete, Greece, David Chui, Boston Univ Med Cnt, USA, Ross Hardison, Dept. Biochem & Mol Biol, Penn State Univ USA, George Patrinos, Erasmus MC, the Netherlands, Henri Wajcman INSERM, Hôpital Henri Mondor, France |
| HBD | hemoglobin, delta | 142000 | HbVar: A Database of Human Hemoglobin Variants and Thalassemias | Nick Anagnou IMBB, FORTH, Crete, Greece, David Chui, Boston Univ Med Cnt, USA, Ross Hardison, Dept. Biochem & Mol Biol, Penn State Univ USA, George Patrinos, Erasmus MC, the Netherlands, Henri Wajcman INSERM, Hôpital Henri Mondor, France |
| HBD | hemoglobin, delta | 142000 | Delta globin (HBD) database | Belinda Giardine and Joseph Borg |
| HBG1 | hemoglobin, gamma A | 142200 | HbVar: A Database of Human Hemoglobin Variants and Thalassemias | Nick Anagnou IMBB, FORTH, Crete, Greece, David Chui, Boston Univ Med Cnt, USA, Ross Hardison, Dept. Biochem & Mol Biol, Penn State Univ USA, George Patrinos, Erasmus MC, the Netherlands, Henri Wajcman INSERM, Hôpital Henri Mondor, France |
| HBG1 | hemoglobin, gamma A | 142200 | A-gamma globin (HBG1) database | Belinda Giardine and Joseph Borg |
| HBG2 | hemoglobin, gamma G | 142250 | G-gamma globin (HBG2) databse | Belinda Giardine and Joseph Borg |
| HBG2 | hemoglobin, gamma G | 142250 | HbVar: A Database of Human Hemoglobin Variants and Thalassemias | Nick Anagnou IMBB, FORTH, Crete, Greece, David Chui, Boston Univ Med Cnt, USA, Ross Hardison, Dept. Biochem & Mol Biol, Penn State Univ USA, George Patrinos, Erasmus MC, the Netherlands, Henri Wajcman INSERM, Hôpital Henri Mondor, France |
| HBS1L | HBS1-like (S. cerevisiae) | 612450 | HBS1-like (HBS1L) database | Belinda Giardine and Joseph Borg |
| HCCS | holocytochrome c synthase (cytochrome c heme-lyase) | 300056 | HCCS database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| HCFC1 | host cell factor C1 (VP16-accessory protein) | 300019 | HCFC1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| HTT | huntingtin | 613004 | Mendelian genes | Willeke van Roon-Mom |
| HEPH | hephaestin | 300167 | HEPH database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| HEXA | hexosaminidase A (alpha polypeptide) | 606869 | Hexosaminidase A; Tay-Sachs Disease | Feige Kaplan, Manyphong Phommarinh, McGill Univ., Montreal, Canada |
| HEXB | hexosaminidase B (beta polypeptide) | 606873 | HEXB Locus Database | F. Kaplan, Paulo Cordeiro, Manyphong Phommarinh, McGill University, Montreal, Canada |
| CFH | complement factor H | 134370 | CFHbase: Mutation registry for Factor H deficiency (previously known as HF1base) | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| HGD | homogentisate 1,2-dioxygenase | 607474 | AKUdatabaseHomogentisate 1,2 Dioxygenase Locus (HGO) Mutation and Polymorphism Database Home Page | Santiago Rodríguez de Córdoba & Daniel Beltrán-Valero de BernabéCentro de Investigaciones Biológicas (CSIC) Velázquez, Madrid, Spain (Inactive) |
| ANK2 | ankyrin 2, neuronal | 106410 | Gene Connection for the Heart | S.G. Priori, P.J. Schwartz, Pavia, Italy |
| ANK2 | ankyrin 2, neuronal | 106410 | Zhejiang University-Adinovo Center ANK2 Database | Ming Qi, PhD, FACMG, Peikuan Cong, Yudong Gao and Tao Zhang |
| HLA-A | major histocompatibility complex, class I, A | 142800 | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-B | major histocompatibility complex, class I, B | 142830 | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-C | major histocompatibility complex, class I, C | 142840 | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-DMA | major histocompatibility complex, class II, DM alpha | 142855 | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-DMB | major histocompatibility complex, class II, DM beta | 142856 | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-DOA | major histocompatibility complex, class II, DO alpha | 142930 | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-DOB | major histocompatibility complex, class II, DO beta | 600629 | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-DPA1 | major histocompatibility complex, class II, DP alpha 1 | 142880 | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-DPA2 | major histocompatibility complex, class II, DP alpha 2 (pseudogene) | \N | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-DPB1 | major histocompatibility complex, class II, DP beta 1 | 142858 | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-DPB2 | major histocompatibility complex, class II, DP beta 2 (pseudogene) | \N | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-DQA1 | major histocompatibility complex, class II, DQ alpha 1 | 146880 | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-DQA2 | major histocompatibility complex, class II, DQ alpha 2 | \N | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-DQB1 | major histocompatibility complex, class II, DQ beta 1 | 604305 | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-DQB2 | major histocompatibility complex, class II, DQ beta 2 | \N | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-DQB3 | major histocompatibility complex, class II, DQ beta 3 | \N | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-DRA | major histocompatibility complex, class II, DR alpha | 142860 | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-DRB1 | major histocompatibility complex, class II, DR beta 1 | 142857 | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-DRB2 | major histocompatibility complex, class II, DR beta 2 (pseudogene) | \N | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-DRB3 | major histocompatibility complex, class II, DR beta 3 | \N | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-DRB4 | major histocompatibility complex, class II, DR beta 4 | \N | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-DRB5 | major histocompatibility complex, class II, DR beta 5 | 604776 | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-DRB6 | major histocompatibility complex, class II, DR beta 6 (pseudogene) | \N | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-DRB7 | major histocompatibility complex, class II, DR beta 7 (pseudogene) | \N | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-DRB8 | major histocompatibility complex, class II, DR beta 8 (pseudogene) | \N | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-DRB9 | major histocompatibility complex, class II, DR beta 9 (pseudogene) | \N | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-E | major histocompatibility complex, class I, E | 143010 | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-F | major histocompatibility complex, class I, F | 143110 | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-G | major histocompatibility complex, class I, G | 142871 | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-H | major histocompatibility complex, class I, H (pseudogene) | \N | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-J | major histocompatibility complex, class I, J (pseudogene) | \N | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-K | major histocompatibility complex, class I, K (pseudogene) | \N | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HLA-L | major histocompatibility complex, class I, L, pseudogene | \N | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| HMGCS2 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) | 600234 | Innsbruck Metabolic Diseases Pages | Barbara Lanthaler, Stefanie Kalb and Martina Witsch-Baumgartner |
| HNF4A | hepatocyte nuclear factor 4, alpha | 600281 | HNF4A at LOVD | Monique Losekoot, LUMC, Leiden, Netherlands |
| HNRNPH2 | heterogeneous nuclear ribonucleoprotein H2 (H') | 300610 | HNRNPH2 database at LOVD | Jacopo Celli Leiden Univ. Med Centre (acting), Curator vacancy |
| HPRT1 | hypoxanthine phosphoribosyltransferase 1 | 308000 | Hypoxanthine Guanine Phosphoribosyltransferase 1; Lech-Nyhan Syndrome | Neil Cariello, Univ. Nth Carolina, USA |
| HPS1 | Hermansky-Pudlak syndrome 1 | 604982 | Mutations of the ep-Gene | Retina International |
| HPS1 | Hermansky-Pudlak syndrome 1 | 604982 | Mutations of the HPS Gene | Retina International |
| HPS1 | Hermansky-Pudlak syndrome 1 | 604982 | Albinism Database | William S. Oetting, Int. Albinism Centre, Univ. of Minnesota, USA |
| HSD17B3 | hydroxysteroid (17-beta) dehydrogenase 3 | 605573 | Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM) | Ming Qi, PhD, FACMG, Peikuan Cong, deng and Yuanli Lei |
| HSD17B4 | hydroxysteroid (17-beta) dehydrogenase 4 | 601860 | LOVD 3.0 shared installation | LOVD-team, but with Curator vacancy |
| HSD3B2 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | 613890 | Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM) | Ming Qi, PhD, FACMG, Peikuan Cong, deng and Yuanli Lei |
| HSF4 | heat shock transcription factor 4 | 602438 | HSF4 database at LOVD | Johan T den Dunnen Leiden Univ. Med Centre |
| HSPB1 | heat shock 27kDa protein 1 | 602195 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
| HTATSF1 | HIV-1 Tat specific factor 1 | 300346 | HTATSF1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| HTR2C | 5-hydroxytryptamine (serotonin) receptor 2C | 312861 | HTR2C database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| HTR3A | 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic | 182139 | HTR3A database at Heidelberg University | Dr. Beate Niesler, Heidelberg University |
| HTR3A | 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic | 182139 | HTR3A database at Heidelberg University | Steffi Wilke and Dr. Beate Niesler, Heidelberg University |
| HTR3B | 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic | 604654 | HTR3B database at Heidelberg University | Dr. Beate Niesler, Heidelberg University |
| NOD2 | nucleotide-binding oligomerization domain containing 2 | 605956 | Crohn's Disease & Blau Syndrome; INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations | Jean-pierre Hugot & Suzanne Lesage, INSERM 289, Paris, France |
| ICAM4 | intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) | 111250 | Blood Group Antigen Mutation Database | Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept. of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A |
| ICOS | inducible T-cell co-stimulator | 604558 | ICOSbase: Mutation registry for ICOS deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| IDS | iduronate 2-sulfatase | 309900 | IDS database at LOVD | Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| IDUA | iduronidase, alpha-L- | 252800 | Mendelian genes (IDUA) | Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| CFI | complement factor I | 217030 | CFIbase: Mutation registry for Factor I deficiency (previously known as IFbase) | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| SP110 | SP110 nuclear body protein | 604457 | SP110base: Mutation registry for Hepatic veno-occlusive disease with immunodeficiency syndrome (VODI) | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| IFNGR1 | interferon gamma receptor 1 | 107470 | IFNGR1base: Mutation registry for IFNγ1-receptor deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| IFNGR1 | interferon gamma receptor 1 | 107470 | Mendelian genes (IFNGR1) | Esther van de Vosse Leiden Univ. Med Centre |
| IFNGR2 | interferon gamma receptor 2 (interferon gamma transducer 1) | 147569 | Mendelian genes (IFNGR2) | Esther van de Vosse |
| IFNGR2 | interferon gamma receptor 2 (interferon gamma transducer 1) | 147569 | IFNGR2base: Mutation registry for IFNγ2-receptor deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| IGBP1 | immunoglobulin (CD79A) binding protein 1 | 300139 | IGBP1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| IGF1 | insulin-like growth factor 1 (somatomedin C) | 147440 | LOVD growth | Jan Maarten Wit and Marie-Jose Walenkamp |
| IGF1R | insulin-like growth factor 1 receptor | 147370 | LOVD growth | Roland Pfaeffle and Wieland Kiess |
| IGF2 | insulin-like growth factor 2 (somatomedin A) | 147470 | LOVD growth | Irene Netchine and Yves le Bouc |
| IGFALS | insulin-like growth factor binding protein, acid labile subunit | 601489 | IGFALS database at LOVD | H Jasper and HM Domené |
| IGHD | immunoglobulin heavy constant delta | 147170 | IMGT; the international ImMunoGeneTics information system ® | Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
| IGHG2 | immunoglobulin heavy constant gamma 2 (G2m marker) | 147110 | IGHG2base: Mutation registry for IgG2 deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| IGHJ2 | immunoglobulin heavy joining 2 | 147010 | IMGT; the international ImMunoGeneTics information system ® | Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
| IGHM | immunoglobulin heavy constant mu | 147020 | IGHMbase: Mutation registry for µ heavy-chain deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| IGHMBP2 | immunoglobulin mu binding protein 2 | 600502 | LOVD 3.0 shared installation (IGHMBP2) | LOVD-team, but with Curator vacancy |
| IGHMBP2 | immunoglobulin mu binding protein 2 | 600502 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
| IGHMBP2 | immunoglobulin mu binding protein 2 | 600502 | Leiden Muscular Dystrophy pages (IGHMBP2) | Jorge Oliveira |
| IGHV@ | immunoglobulin heavy variable group | 147070 | IMGT; the international ImMunoGeneTics information system ® | Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
| AP1S2 | adaptor-related protein complex 1, sigma 2 subunit | 300629 | AP1S2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| AP3B1 | adaptor-related protein complex 3, beta 1 subunit | 603401 | Mutations of the Adaptin b3a Gene | Retina International |
| AP3B1 | adaptor-related protein complex 3, beta 1 subunit | 603401 | Albinism Database | William S. Oetting Int. Albinism Centre Univ. of Minnesota, U.S.A. |
| AP3B1 | adaptor-related protein complex 3, beta 1 subunit | 603401 | AP3B1base: Mutation registry for Hermansky-Pudlak syndrome 2 | Mauno Vihinen, Univ. of Tampere, Finland |
| ABCC6 | ATP-binding cassette, sub-family C (CFTR/MRP), member 6 | 603234 | Mutations of the Multidrug Resistance-associated Protein 6 (ABCC6/ MPR6/ MOAT-E) | Retina International |
| ABCC6 | ATP-binding cassette, sub-family C (CFTR/MRP), member 6 | 603234 | LOVD at NCBI | Sharon Terry and Tim Hefferon |
| IGKC | immunoglobulin kappa constant | 147200 | IMGT; the international ImMunoGeneTics information system ® | Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
| IGKJ@ | immunoglobulin kappa joining group | 146970 | IMGT; the international ImMunoGeneTics information system ® | Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
| IGKV@ | immunoglobulin kappa variable group | 146980 | IMGT; the international ImMunoGeneTics information system ® | Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
| APC | adenomatous polyposis coli | 611731 | The UMD APC mutations database | Christophe Beroud, Laboratoire de génétique Moléculaire et Chromosomique, Montpellier, France Thierry Soussi INSERM, Hopital Necker Enfants Malades, Paris |
| APC | adenomatous polyposis coli | 611731 | Colon cancer gene variant databases- APC | Dr. Stefan Aretz and Dr. Waltraut Friedl |
| APC | adenomatous polyposis coli | 611731 | Zhejiang University-Adinovo Center APC Database | Ming Qi, PhD, FACMG, Peikuan Cong and Yudong Gao |
| APC | adenomatous polyposis coli | 611731 | The APC Mutation Database | Dr. Stefan Aretz and Dr. Waltraut Friedl |
| IGLC1 | immunoglobulin lambda constant 1 (Mcg marker) | 147220 | IMGT; the international ImMunoGeneTics information system ® | Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
| IGLJ@ | immunoglobulin lambda joining group | 147230 | IMGT; the international ImMunoGeneTics information system ® | Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
| IGLL1 | immunoglobulin lambda-like polypeptide 1 | 146770 | IGLL1base: Mutation registry for λ 5 surrogate light-chain deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| IGLV@ | immunoglobulin lambda variable group | 147240 | IMGT; the international ImMunoGeneTics information system ® | Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France |
| XIAP | X-linked inhibitor of apoptosis | 300079 | XIAP database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| XIAP | X-linked inhibitor of apoptosis | 300079 | **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database | Ammar Husami and Theru A. Sivakumaran |
| IGSF1 | immunoglobulin superfamily, member 1 | 300137 | IGSF1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| IKBKAP | inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex- | 603722 | Leiden Muscular Dystrophy pages (IKBKAP) | Johan den Dunnen |
| IKBKAP | inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein | 603722 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
| IKBKAP | inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein | 603722 | LOVD 3.0 shared installation (IKBKAP) | LOVD-team, but with Curator vacancy |
| IKBKG | inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma | 300248 | IKBKGbase: Mutation registry for Nemo deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| IKBKG | inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma | 300248 | Mendelian genes IKBKG) | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| IL12B | interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) | 161561 | IL12Bbase: Mutation registry for Interleukin-12 (IL-12) p40 deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| IL12B | interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) | 161561 | Mendelian genes (IL12B) | Esther van de Vosse |
| IL12RB1 | interleukin 12 receptor, beta 1 | 601604 | Mendelian genes (IL12RB1) | Esther van de Vosse |
| IL12RB1 | interleukin 12 receptor, beta 1 | 601604 | IL12RB1base: Mutation registry for Interleukin-12 receptor ß1 deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| IL13RA1 | interleukin 13 receptor, alpha 1 | 300119 | IL13RA1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| IL13RA2 | interleukin 13 receptor, alpha 2 | 300130 | IL13RA2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| IL1RAPL1 | interleukin 1 receptor accessory protein-like 1 | 300206 | IL1RAPL1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| IL1RAPL1 | interleukin 1 receptor accessory protein-like 1 | 300206 | LOVD 3.0 shared installation (IL1RAPL1) | LOVD-team, but with Curator vacancy |
| IL1RAPL2 | interleukin 1 receptor accessory protein-like 2 | 300277 | IL1RAPL2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| IL2RA | interleukin 2 receptor, alpha | 147730 | IL2RAbase: Mutation registry for Interleuken 2 receptor α deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| IL2RG | interleukin 2 receptor, gamma | 308380 | **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database | Ammar Husami |
| IL2RG | interleukin 2 receptor, gamma | 308380 | X-Linked Severe Combined Immuno deficiency SCID | Jeniffer Puck, Joie Davies, Roxanne Fisher, Amy Pepper, NHGRI/NIH, Bethesda |
| IL2RG | interleukin 2 receptor, gamma | 308380 | CCHMC Molecular Genetics Laboratory Mutation Database | Ammar Husami and Theru A. Sivakumaran |
| IL2RG | interleukin 2 receptor, gamma | 308380 | X-chromosome gene database | LOVD-team, but with Curator vacancy |
| IL7R | interleukin 7 receptor | 146661 | IL7Rbase: Mutation registry for Interleukin-7 receptor α deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| IL9R | interleukin 9 receptor | 300007 | IL9R database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| IMPDH1 | IMP (inosine monophosphate) dehydrogenase 1 | 146690 | Mutations of the Inosine Monophosphate DehydrogenaseType 1 Gene | Retina International |
| IMPDH1 | IMP (inosine 5'-monophosphate) dehydrogenase 1 | 146690 | Eye diseases - LOVD | LOVD-team, but with Curator vacancy |
| INE1 | inactivation escape 1 (non-protein coding) | 300164 | INE1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ABCD1 | ATP-binding cassette, sub-family D (ALD), member 1 | 300371 | X-linked Adrenoleukodystrophy Database | Hugo W. Moser Dept. of Neurogenetics Kennedy Krieger Inst. Baltimore, USA. Stephan Kemp, Ronald R.J.A. Wanders Lab. of Genetic Metabolic Diseases Academic Medical Ctr. Amsterdam, The Netherlands. |
| FOXP3 | forkhead box P3 | 300292 | CCHMC - Human Genetics Mutation Database | Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
| FOXP3 | forkhead box P3 | 300292 | FOXP3base: Mutation registry for Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; IPEX | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| FOXP3 | forkhead box P3 | 300292 | FOXP3 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| IRAK1 | interleukin-1 receptor-associated kinase 1 | 300283 | IRAK1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| IRS4 | insulin receptor substrate 4 | 603510 | IRS4 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ITGA2B | integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) | 607759 | Glanzmann Thrombasthenia Database (GPIIb) | Dr. David Wilcox, Mount Sinai School of Medicine, U.S.A. |
| ITGA7 | integrin, alpha 7 | 600536 | Leiden Muscular Dystrophy pages | Johan T den Dunnen Leiden Univ. Med Centre |
| ITGB2 | integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) | 600065 | ITGB2base: Mutation registry for Leukocyte adhesion deficiency I (LAD-I) | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| ITGB2 | integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) | 600065 | Mendelian genes (ITGB2) | LOVD-Team , but with Curator vacancy |
| ITGB3 | integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) | 173470 | Glanzmann Thrombasthenia Database (GPIIIa) | Dr. David Wilcox, Mount Sinai School of Medicine, U.S.A. |
| ITM2A | integral membrane protein 2A | 300222 | ITM2A database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ITM2A | integral membrane protein 2A | 300222 | X-chromosome gene database (ITM2A) | LOVD-Team , but with Curator vacancy |
| IVD | isovaleryl-CoA dehydrogenase | 607036 | LOVD 3.0 shared installation (IVD) | Ivo F.A.C. Fokkema, Leiden Univ. Med Centre |
| JAG1 | jagged 1 | 601920 | Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM) | Ming Qi, PhD, FACMG, Peikuan Cong and Min Pan |
| JAG1 | jagged 1 | 601920 | LOVD 3.0 shared installation (JAG1) | LOVD-Team , but with Curator vacancy |
| JAG1 | jagged 1 | 601920 | CCHMC Molecular Genetics Laboratory Mutation Database | Ammar Husami and Theru A. Sivakumaran |
| JAK2 | Janus kinase 2 | 147796 | Mendelian genes Janus kinase 2 (JAK2) | LOVD-Team , but with Curator vacancy |
| JAK3 | Janus kinase 3 | 600173 | JAK3base: Mutation registry for autosomal recessive severe combined JAK3 deficiency | Luigi D. Notarangelo, Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| JAK3 | Janus kinase 3 | 600173 | LOVD 3.0 shared installation (JAK3) | LOVD-Team , but with Curator vacancy |
| APP | amyloid beta (A4) precursor protein | 104760 | Alzheimer Disease & Frontotemporal Dementia Mutation Database | Marc Cruts Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium |
| JUP | junction plakoglobin | 173325 | Gene Connection for the Heart; Naxos disease database | S.G. N. Protonotarios, Naxos, Greece & C. Napolitano, Pavia, Italy |
| JUP | junction plakoglobin | 173325 | ARVD/C Genes Variants Database | Paul van der Zwaag, Jan Jongbloed and Peter van Tintelen, Dept. of Genetics, Univ Med Center, Groningen, The Netherlands |
| JUP | junction plakoglobin | 173325 | ARVD/C Genetic Variants Database (JUP) | Paul van der Zwaag |
| KAL1 | Kallmann syndrome 1 sequence | 308700 | KAL1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| KCND1 | potassium voltage-gated channel, Shal-related subfamily, member 1 | 300281 | KCND1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| KCNE1 | potassium voltage-gated channel, Isk-related family, member 1 | 176261 | Long QT Syndrome Database | Michael Christiansen, Lars A. Larsen, Paal Skytt Andersen, Molecular Cardiology grp, Statens Serum Institut, Copenhagen, Denmark |
| KCNE1 | potassium voltage-gated channel, Isk-related family, member 1 | 176261 | Gene Connection for the Heart | S.G. Priori, P.J. Schwartz, Pavia, Italy |
| KCNE1 | potassium voltage-gated channel, Isk-related family, member 1 | 176261 | Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM) | Ming Qi, PhD, FACMG, Peikuan Cong and Tao Zhang |
| KCNE1 | potassium voltage-gated channel, Isk-related family, member 1 | 176261 | CCHMC - Human Genetics Mutation Database | Ammar Husami and Theru A. Sivakumaran |
| KCNE1L | KCNE1-like | 300328 | KCNE1L database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| KCNE2 | potassium voltage-gated channel, Isk-related family, member 2 | 603796 | Long QT Syndrome Database | Michael Christiansen, Lars A. Larsen, Paal Skytt Andersen, Molecular Cardiology grp, Statens Serum Institut, Copenhagen, Denmark |
| KCNE2 | potassium voltage-gated channel, Isk-related family, member 2 | 603796 | Gene Connection for the Heart | S.G. Priori, P.J. Schwartz, Pavia, Italy |
| KCNE2 | potassium voltage-gated channel, Isk-related family, member 2 | 603796 | Zhejiang University-Adinovo Center KCNE2 Database | Ming Qi, PhD, FACMG, Peikuan Cong, Yudong Gao and Tao Zhang |
| KCNH2 | potassium voltage-gated channel, subfamily H (eag-related), member 2 | 152427 | Gene Connection for the Heart | S.G. Priori, P.J. Schwartz, Pavia, Italy |
| KCNH2 | potassium voltage-gated channel, subfamily H (eag-related), member 2 | 152427 | Zhejiang University-Adinovo Center KCNH2 Database | Ming Qi, PhD, FACMG, Peikuan Cong, Yudong Gao and Tao Zhang |
| KCNH2 | potassium voltage-gated channel, subfamily H (eag-related), member 2 | 152427 | Long QT Syndrome Database | Michael Christiansen, Lars A. Larsen, Paal Skytt Andersen, Molecular Cardiology grp, Statens Serum Institut, Copenhagen, Denmark |
| KCNJ2 | potassium inwardly-rectifying channel, subfamily J, member 2 | 600681 | Gene Connection for the Heart | S.G. Priori, P.J. Schwartz, Pavia, Italy |
| KCNJ2 | potassium inwardly-rectifying channel, subfamily J, member 2 | 600681 | Zhejiang University-Adinovo Center KCNJ2 Database | Ming Qi, PhD, FACMG, Peikuan Cong, Yudong Gao and Tao Zhang |
| KCNQ1 | potassium voltage-gated channel, KQT-like subfamily, member 1 | 607542 | Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM) | Ming Qi, PhD, FACMG, Peikuan Cong and Tao Zhang |
| KCNQ1 | potassium voltage-gated channel, KQT-like subfamily, member 1 | 607542 | CCHMC - Human Genetics Mutation Database | Ammar Husami and Theru A. Sivakumaran |
| KCNQ1 | potassium voltage-gated channel, KQT-like subfamily, member 1 | 607542 | Long QT Syndrome Database | Michael Christiansen, Lars A. Larsen, Paal Skytt Andersen, Molecular Cardiology grp, Statens Serum Institut, Copenhagen, Denmark |
| KCNQ1 | potassium voltage-gated channel, KQT-like subfamily, member 1 | 607542 | Gene Connection for the Heart | S.G. Priori, P.J. Schwartz, Pavia, Italy |
| SHROOM2 | shroom family member 2 | 300103 | SHROOM2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| KDR | kinase insert domain receptor (a type III receptor tyrosine kinase) | 191306 | Kinase insert domain receptor (KDR) database | Belinda Giardine and Joseph Borg |
| KEL | Kell blood group, metallo-endopeptidase | 110900 | Blood Group Antigen Mutation Database | Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A |
| KIR2DL1 | killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 | 604936 | IPD-KIR Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| AQP1 | aquaporin 1 (Colton blood group) | 107776 | Blood Group Antigen Mutation Database | Olga O. Blumenfeld Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A |
| KIR2DL2 | killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 | 604937 | IPD-KIR Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| KIR2DL3 | killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 | 604938 | IPD-KIR Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| KIR2DL4 | killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 | 604945 | IPD-KIR Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| KIR2DS1 | killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 | 604952 | IPD-KIR Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| KIR2DS2 | killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 | 604953 | IPD-KIR Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| KIR2DS3 | killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3 | 604954 | IPD-KIR Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| KIR2DS4 | killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 | 604955 | IPD-KIR Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| KIR2DS5 | killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 | 604956 | IPD-KIR Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| KIR3DL1 | killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 | 604946 | IPD-KIR Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| KIR3DL2 | killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 | 604947 | IPD-KIR Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| AQP2 | aquaporin 2 (collecting duct) | 107777 | Nephrogenic diabetes Insipidus | Mary Fujiwara, Daniel G. Bichet McGill Uni.& Univ. de Montreal Montreal, Canada |
| KIR3DS1 | killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 | 604946 | IPD-KIR Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| KL | klotho | 604824 | Klotho (KL) database | Belinda Giardine and Joseph Borg |
| KLF1 | Kruppel-like factor 1 (erythroid) | 600599 | The Globin Gene Server | Belinda Giardine and Joseph Borg |
| KLHL4 | kelch-like 4 (Drosophila) | 300348 | KLHL4 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| KRAS | v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog | 190070 | Mendelian genes (KRAS) | Etienne Rouleau |
| AQP9 | aquaporin 9 | 602914 | Aquaporin 9 (AQP9) database | Belinda Giardine and Joseph Borg |
| AR | androgen receptor | 313700 | Androgen Receptor | Bruce Gottlieb L. Pinsky Lady Davis Inst. Med. Res., Montreal, Canada |
| AR | androgen receptor | 313700 | AR database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ARAF | v-raf murine sarcoma 3611 viral oncogene homolog | 311010 | ARAF database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| L1CAM | L1 cell adhesion molecule | 308840 | L1CAM Mutation Web Page | Yvonne Vos, Department of clinical genetics, University Medical Center Groningen, Groningen , The Netherlands |
| L1CAM | L1 cell adhesion molecule | 308840 | NGRL, Manchester L1CAM database | Bharathi Kattamuri and Simon Ramsden |
| L1CAM | L1 cell adhesion molecule | 308840 | L1 cell adhesion molecule (L1CAM) database at LOVD | Yvonne Vos, Department of Genetics University Medical Center Groningen,The Netherlands |
| LAMA2 | laminin, alpha 2 | 156225 | Leiden Muscular Dystrophy Pages | Johan T. den Dunnen, Leiden Univ. Med Centre, Leiden, The Netherlands |
| LAMP2 | lysosomal-associated membrane protein 2 | 309060 | LAMP2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| LARGE | like-glycosyltransferase | 603590 | Leiden Muscular Dystrophy Pages | Johan den Dunnen, LUMC, Leiden, Nederland |
| LDLR | low density lipoprotein receptor | 606945 | Hypercholesterolemia, Familial | Sarah Leigh, Dept. of Medicine, UCL |
| LDLR | low density lipoprotein receptor | 606945 | UMD Locus Specific Databases | M. Varret, C. Boileau, INSERM,Hopital Necker, Enfants Malades,Paris |
| LHFPL1 | lipoma HMGIC fusion partner-like 1 | 300566 | LHFPL1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| LIG1 | ligase I, DNA, ATP-dependent | 126391 | LIG1base: Mutation registry for DNA ligase I deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| LIG4 | ligase IV, DNA, ATP-dependent | 601837 | LIG4base: Mutation registry for LIG4 syndrome | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| LIM2 | lens intrinsic membrane protein 2, 19kDa | 154045 | LIM2 database at LOVD | Johan T den Dunnen Leiden Univ. Med Centre |
| ARG1 | arginase, liver | 608313 | ARG1database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| LMNA | lamin A/C | 150330 | The LMNA mutations database | G. Bonne, France |
| LMNA | lamin A/C | 150330 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis, Molecular Genetics Department, Flanders Interuniversity, Institute for Biotechnology (VIB, University of Antwerp (UA), Belgium |
| LMNA | lamin A/C | 150330 | Leiden Muscular Dystrophy Pages | Johan T. den Dunnen, Leiden Univ. Medical Centre, Leiden, Netherlands |
| ARG2 | arginase, type II | 107830 | Arginase, type II (ARG2) database | Belinda Giardine and Joseph Borg |
| PRICKLE3 | prickle homolog 3 (Drosophila) | 300111 | PRICKLE3 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| LRAT | lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) | 604863 | Mutations of the Lecithin Retinol Acyltransferase Gene | Retina International |
| LRP5 | low density lipoprotein receptor-related protein 5 | 603506 | LOVD - Leiden Open Variation Database | Wim van Hul |
| BCAM | basal cell adhesion molecule (Lutheran blood group) | 111200 | Blood Group Antigen Mutation Database | Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept. of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A |
| ARHGAP4 | Rho GTPase activating protein 4 | 300023 | ARHGAP4 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ARHGAP6 | Rho GTPase activating protein 6 | 300118 | ARHGAP6 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SMAD3 | SMAD family member 3 | 603109 | SMAD family member 3 (SMAD3) database | Belinda Giardine and Joseph Borg |
| SMAD4 | SMAD family member 4 | 600993 | Juvenile Polyposis Syndrome and SMAD4 Grne Database | Pinar Bayrak-Toydemir, University of Utah, ARUP Laboratories |
| SMAD6 | SMAD family member 6 | 602931 | SMAD family member 6 (SMAD6) database | Belinda Giardine and Joseph Borg |
| MAF | v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian) | 177075 | MAF database at LOVD | Johan T den Dunnen Leiden Univ. Med Centre |
| MAGEA1 | melanoma antigen family A, 1 (directs expression of antigen MZ2-E) | 300016 | MAGEA1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MAGEA11 | melanoma antigen family A, 11 | 300344 | MAGEA11 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MAGEA12 | melanoma antigen family A, 12 | 300177 | MAGEA12 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MAGEA3 | melanoma antigen family A, 3 | 300174 | MAGEA3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MAGEA4 | melanoma antigen family A, 4 | 300175 | MAGEA4 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MAGEA5 | melanoma antigen family A, 5 | 300340 | MAGEA5 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MAGEA8 | melanoma antigen family A, 8 | 300341 | MAGEA8 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MAGEB1 | melanoma antigen family B, 1 | 300097 | MAGEB1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MAGEB2 | melanoma antigen family B, 2 | 300098 | MAGEB2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MAGEB3 | melanoma antigen family B, 3 | 300152 | MAGEB3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MAGEB4 | melanoma antigen family B, 4 | 300153 | MAGEB4 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MAGEC1 | melanoma antigen family C, 1 | 300223 | MAGEC1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MAGED1 | melanoma antigen family D, 1 | 300224 | MAGED1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MAOA | monoamine oxidase A | 309850 | MAOA database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MAOB | monoamine oxidase B | 309860 | MAOB database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MAP2K1 | mitogen-activated protein kinase kinase 1 | 176872 | Mitogen-activated protein kinase kinase 1 (MAP2K1) database | Belinda Giardine and Joseph Borg |
| ARHGEF6 | Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 | 300267 | ARHGEF6 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MAP3K5 | mitogen-activated protein kinase kinase kinase 5 | 602448 | Mitogen-activated protein kinase kinase kinase 5 (MAP3K5) database | Belinda Giardine and Joseph Borg |
| MAP3K7 | mitogen-activated protein kinase kinase kinase 7 | 602614 | Mitogen-activated protein kinase kinase kinase 7 (MAP3K7) | Belinda Giardine and Joseph Borg |
| MAPT | microtubule-associated protein tau | 157140 | Alzheimer Disease & Frontotemporal Dementia Mutation Database | Marc Cruts and Nathalie Brouwers, Neurogenerative Brain Diseases Group, VIB Department of Molecular Genetics, Flanders Institute for Biotechnology and, University of Antwerp - Campus CDE, Belgium |
| MASP2 | mannan-binding lectin serine peptidase 2 | 605102 | MASP2base: Mutation registry for MASP-2 deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| MATR3 | matrin 3 | 164015 | Leiden Muscular Dystrophy pages | Johan T den Dunnen Leiden Univ. Med Centre |
| MCF2 | MCF.2 cell line derived transforming sequence | 311030 | MCF2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MECP2 | methyl CpG binding protein 2 (Rett syndrome) | 300005 | RettBASE | John Christodoulou, Andrew Grimm, Children's Hospital, Westmead, Sydney, Australia |
| MECP2 | methyl CpG binding protein 2 (Rett syndrome) | 300005 | MECP2 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MECP2 | methyl CpG binding protein 2 (Rett syndrome) | 300005 | **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database | Ammar Husami and Theru A. Sivakumaran |
| MEFV | Mediterranean fever | 608107 | INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations | Isabelle Touitou, Laboratory of Genetics, A de Villeneuve Hospital, Montpellier, France |
| MEN1 | multiple endocrine neoplasia I | 613733 | The UMD MEN1 mutations database | Alain Calender, Genetic Unit and INSERM U45, Hôpital Edouard Herriot, LYON, France |
| MEN1 | multiple endocrine neoplasia I | 613733 | Multiple endocrine neoplasia and MEN1 missense variants Database | Kelli Sumner, University of Utah, ARUP Laboratories |
| MERTK | c-mer proto-oncogene tyrosine kinase | 604705 | Mutations of the MER Receptor Tyrosine Kinase Gene | Retina International |
| MGAT2 | mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase | 602616 | Congenital Disorder of Glycosylation pages | Gert Matthijs, Center for Human Genetics, Leuven, Belgium |
| CIITA | class II, major histocompatibility complex, transactivator | 600005 | CIITAbase: Mutation registry for MHCII transactivating protein deficiency (previously known as MHC2TAbase) | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| CD99 | CD99 molecule | 450000 | CD99 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MICA | MHC class I polypeptide-related sequence A | 600169 | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| MICB | MHC class I polypeptide-related sequence B | 602436 | IMGT/HLA Database | SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK |
| MID1 | midline 1 (Opitz/BBB syndrome) | 300552 | MID1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MID2 | midline 2 | 300204 | MID2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MITF | microphthalmia-associated transcription factor | 156845 | MITF database at LOVD | Veronique Pingault Laboratoire de Biochimie et Génétique, Hopital Henri Mondor Creteil cedex, France |
| MKKS | McKusick-Kaufman syndrome | 604896 | Mutations of the McKusick-Kaufman Gene | Retina International |
| MKKS | McKusick-Kaufman syndrome | 604896 | EURO-WABB Project Open Variation Database | Dewi Astuti |
| MLH1 | mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) | 120436 | Mismatch Repair Genes Variant Database | Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, Canada |
| MLH1 | mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) | 120436 | Zhejiang University-Adinovo Center MLH1 Database | Ming Qi, PhD, FACMG, Peikuan Cong, Yudong Gao and Tao Zhang |
| MLH1 | mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) | 120436 | Hereditary Non-Polyposis Colorectal Cancer, HNPCC | International Collaborative Group on Hereditary Non Polyposis Colorectal Cancer (ICG-HNPCC): Amanda Dohey, Hans Vasen, Krista Mahoney, Michael Woods, Paivi Peltomäki and Rolf Sijmons |
| MLH3 | mutL homolog 3 (E. coli) | 604395 | Hereditary Non-Polyposis Colorectal Cancer, HNPCC | International Collaborative Group on Hereditary Non Polyposis Colorectal Cancer (ICG-HNPCC) |
| MLH3 | mutL homolog 3 (E. coli) | 604395 | Zhejiang University-Adinovo Center MLH3 Database | Ming Qi, PhD, FACMG, Peikuan Cong, Shu Zheng, MD, Yudong Gao and Changsong Lin |
| FOXO4 | forkhead box O4 | 300033 | FOXO4 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MLYCD | malonyl-CoA decarboxylase | 606761 | MLYCD Allelic Variant Database | Graeme Grimes & Isabel Hanson, MRC Human Genetics Unit, Edinburg, UK |
| ARSD | arylsulfatase D | 300002 | ARSD database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ARSE | arylsulfatase E (chondrodysplasia punctata 1) | 300180 | ARSE database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MPDU1 | mannose-P-dolichol utilization defect 1 | 604041 | Congenital Disorders of Glycosylation pages | Gert Matthijs, Center for Human Genetics Leuven, Belgium |
| ARSF | arylsulfatase F | 300003 | ARSF database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MPI | mannose phosphate isomerase | 154550 | Congenital Disorder of Glycosylation pages | Gert Matthijs, Center for Human Genetics, Leuven, Belgium |
| MPL | myeloproliferative leukemia virus oncogene | 159530 | Mendelian genes (MPL2) | Mathias Vilaine, Nantes, France |
| MPO | myeloperoxidase | 606989 | MPObase: Mutation registry for Myeloperoxidase deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| MPP1 | membrane protein, palmitoylated 1, 55kDa | 305360 | MPP1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MPZ | myelin protein zero | 159440 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
| MRE11A | MRE11 meiotic recombination 11 homolog A (S. cerevisiae) | 600814 | MRE11Abase: Mutation registry for Ataxia-telangiectasia-like disorder (ATLD) | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| ART4 | ADP-ribosyltransferase 4 (Dombrock blood group) | 110600 | Blood Group Antigen Mutation Database | Olga O. Blumenfeld Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A |
| SEPT9 | septin 9 | 604061 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB,) University of Antwerp (UA), Belgium |
| MSH2 | mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) | 609309 | Zhejiang University-Adinovo Center MSH2 Database | Ming Qi, PhD, FACMG, Peikuan Cong, Shu Zheng, MD, Yudong Gao and Changsong Lin |
| MSH2 | mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) | 609309 | Hereditary Non-Polyposis Colorectal Cancer, HNPCC | International Collaborative Group on Hereditary Non Polyposis Colorectal Cancer (ICG-HNPCC): Amanda Dohey, Hans Vasen, Krista Mahoney, Michael Woods, Paivi Peltomäki and Rolf Sijmons |
| MSH2 | mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) | 609309 | Mismatch Repair Genes Variant Database | Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, Canada |
| MSH6 | mutS homolog 6 (E. coli) | 600678 | Hereditary Non-Polyposis Colorectal Cancer, HNPCC | International Collaborative Group on Hereditary Non Polyposis Colorectal Cancer (ICG-HNPCC) |
| MSH6 | mutS homolog 6 (E. coli) | 600678 | Mismatch Repair Genes Variant Database | Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, Canada |
| MSH6 | mutS homolog 6 (E. coli) | 600678 | MSH6 database at LOVD | Amanda Dohey & Michael Woods, Memorial University of Newfoundland, Canada |
| MSH6 | mutS homolog 6 (E. coli) | 600678 | Zhejiang University-Adinovo Center MSH6 Database | Ming Qi, PhD, FACMG, Peikuan Cong, Shu Zheng, MD, Yudong Gao and Changsong Lin |
| MSL3 | male-specific lethal 3 homolog (Drosophila) | 300609 | MSL3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MSN | moesin | 309845 | MSN database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MTM1 | myotubularin 1 | 300415 | Leiden Muscular Dystrophy Pages | Jorge Oliveira & Johan den Dunnen |
| MTMR1 | myotubularin related protein 1 | 300171 | MTMR1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MTMR2 | myotubularin related protein 2 | 603557 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
| ASL | argininosuccinate lyase | 608310 | ASL database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MTR | 5-methyltetrahydrofolate-homocysteine methyltransferase | 156570 | Zhejiang University Center for Genetic and Genomic Medicine - MTR | Ming Qi, PhD, FACMG, Peikuan Cong and Yanling Chen |
| MTRR | 5-methyltetrahydrofolate-homocysteine methyltransferase reductase | 602568 | Zhejiang University Center for Genetic and Genomic Medicine - MTRR | Ming Qi, PhD, FACMG, Peikuan Cong and Yanling Chen |
| MT-TS2 | mitochondrially encoded tRNA serine 2 (AGU/C) | 590085 | Mutations of the Second Mitochondrial Serine tRNA Gene | Retina International |
| ASMT | acetylserotonin O-methyltransferase | 402500 | ASMT database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ASMTL | acetylserotonin O-methyltransferase-like | 400011 | ASMTL database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MUT | methylmalonyl CoA mutase | 609058 | Zhejiang University Center for Genetic and Genomic Medicine - MUT | Ming Qi, PhD, FACMG, Peikuan Cong and Yanling Chen |
| MUTYH | mutY homolog (E. coli) | 604933 | MUTYH - mutY homolog | Astrid Out & Carli Tops, LUMC, Leiden, Nederland |
| MVK | mevalonate kinase | 251170 | INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations | Laurence Cuisset & Hans Waterham, Génétique Développement et Pathologie Moléculaire, Institut Cochin de Génétique Moléculaire, Paris, France |
| MXRA5 | matrix-remodelling associated 5 | \N | MXRA5 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MYB | v-myb myeloblastosis viral oncogene homolog (avian) | 189990 | Homo sapiens v-myb myeloblastosis viral oncogene homolog (MYB) database | Belinda Giardine and Joseph Borg |
| MYBPC3 | myosin binding protein C, cardiac | 600958 | FHC Mutation Database | Bing Yu, Ronald J. Trent, Dept. Molecular & Clinical Genetics, Royal Prince Alfred Hospital, Sydney, Australia |
| MYBPC3 | myosin binding protein C, cardiac | 600958 | Sarcomere Protein Gene Mutation Database | NHLBI Program for Genomic Applications, Harvard Medical School |
| ASPA | aspartoacylase (Canavan disease) | 608034 | aspartoacylase (Canavan disease) (ASPA) Variation Database | Gajja Salomons |
| MYH7 | myosin, heavy chain 7, cardiac muscle, beta | 160760 | FHC Mutation Database | Bing Yu, Ronald J. Trent, Dept. Molecular & Clinical Genetics, Royal Prince Alfred Hospital, Sydney, Australia |
| MYH7 | myosin, heavy chain 7, cardiac muscle, beta | 160760 | Sarcomere Protein Gene Mutation Database | NHLBI Program for Genomic Applications, Harvard Medical School, Boston, USA |
| MYH9 | myosin, heavy chain 9, non-muscle | 160775 | Hereditary Hearing Loss Homepage | Guy van Camp, Univ. of Antwerp, Antwerp, Belgium, Richard J.H. Smith, Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A |
| ASS1 | argininosuccinate synthase 1 | 603470 | Argininosuccinate synthetase 1 (ASS1) database | Belinda Giardine and Joseph Borg |
| ASS1 | argininosuccinate synthase 1 | 603470 | ASS1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| MYL2 | myosin, light chain 2, regulatory, cardiac, slow | 160781 | FHC Mutation Database | Bing Yu, Ronald J. Trent, Dept. Molecular & Clinical Genetics, Royal Prince Alfred Hospital, Sydney, Australia |
| MYL2 | myosin, light chain 2, regulatory, cardiac, slow | 160781 | Sarcomere Protein Gene Mutation Database | NHLBI Program for Genomic Applications, Harvard Medical School, Boston, USA |
| MYL3 | myosin, light chain 3, alkali; ventricular, skeletal, slow | 160790 | Sarcomere Protein Gene Mutation Database | NHLBI Program for Genomic Applications, Harvard Medical School, Boston, USA |
| MYO15A | myosin XVA | 602666 | Hereditary Hearing Loss Homepage | Guy van Camp, Univ. of Antwerp, Antwerp, Belgium; Richard J.H. Smith Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A |
| MYO5A | myosin VA (heavy chain 12, myoxin) | 160777 | MYO5Abase: Mutation registry for Griscelli syndrome, type 1 (GS1) | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| MYO6 | myosin VI | 600970 | Hereditary Hearing Loss Homepage | Guy van Camp, Univ. of Antwerp, Antwerp, Belgium; Richard J.H. Smith Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A |
| MYO6 | myosin VI | 600970 | CCHMC-BMI & UC Hearing Loss Mutation Database | Ammar Husami |
| MYO7A | myosin VIIA | 276903 | Retinal and hearing impairment genetic mutation database MYO7A | david baux |
| MYO7A | myosin VIIA | 276903 | **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database | Ammar Husami and Theru A. Sivakumaran |
| MYO7A | myosin VIIA | 276903 | Hereditary Hearing Loss Homepage | Guy van Camp, Univ. of Antwerp, Antwerp, Belgium; Richard J.H. Smith Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A |
| MYO7A | myosin VIIA | 276903 | Mutations of the Myosin VIIa Gene | Retina International |
| MYO7A | myosin VIIA | 276903 | The UMD MYO7A mutations database | A.-F. Roux and D. Baux |
| MYOC | myocilin, trabecular meshwork inducible glucocorticoid response | 601652 | Myocilin allele-specific phenotype database | Dr Alex Hewitt & A/Prof Jamie Craig, Department of Ophthalmology, Flinders University, Adelaide, Australia. |
| NAP1L2 | nucleosome assembly protein 1-like 2 | 300026 | NAP1L2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| NAP1L3 | nucleosome assembly protein 1-like 3 | 300117 | NAP1L3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| NAT1 | N-acetyltransferase 1 (arylamine N-acetyltransferase) | 108345 | Arylamine N-Acetyltransferase(Note- Not really a variation database but useful-lists alleles & nomenclature) | David W. Hein, Dept Pharmacology & Toxicology Univ. Sch. Med. Louisville, Kentucky USA; Denis M. Grant, The Hospital for Sick Children, Toronto Canada; Edith Sim, Dept Pharmacology Univ. Oxford, UK |
| NAT2 | N-acetyltransferase 2 (arylamine N-acetyltransferase) | 612182 | Arylamine N-Acetyltransferase (Note- Not really a variation database but useful-lists alleles & nomenclature) | David W. Hein, Dept Pharmacology & Toxicology, Univ. Sch. Med. Louisville, Kentucky, USA; Denis M. Grant, The Hospital for Sick Children, Toronto, Canada; Edith Sim, Dept Pharmacology, Univ. Oxford, UK |
| NBN | nibrin | 602667 | NBN - Leiden Open Variation Database | Jacopo Celli Leiden Univ. Med Centre (acting), Curator vacancy |
| NCF1 | neutrophil cytosolic factor 1 | 608512 | NCF1base: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p47phox | Dirk Roos, Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| NCF2 | neutrophil cytosolic factor 2 | 608515 | NCF2base: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p67phox | Dirk Roos, Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| NDP | Norrie disease (pseudoglioma) | 300658 | Mutations of the Norrie Disease Gene | Retina International |
| NDRG1 | N-myc downstream regulated 1 | 605262 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis, Molecular Genetics Department, Flanders Interuniversity, Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
| NDUFA1 | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa | 300078 | NDUFA1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| NEB | nebulin | 161650 | Leiden Muscular Dystrophy Pages | Katarina Pelin, Tom Winder, Vilma-Lotta Lehtokari & Johan den Dunnen |
| NEFL | neurofilament, light polypeptide | 162280 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis, Molecular Genetics, Department, Flanders Interuniversity, Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
| SERPINC1 | serpin peptidase inhibitor, clade C (antithrombin), member 1 | 107300 | Antithrombin III mutation database | David A. Lane, Imperial college, Sch. of Med., London, U.K. |
| NF1 | neurofibromin 1 | 162200 | NF1 @ The Center for Medical Genetics, Ghent University Hospital, Belgium | Ophelia Maertens, Centre for Medical Genetics, Gent, Belgium |
| NFKBIA | nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha | 164008 | NFKBIAbase: Mutation registry for Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| NGF | nerve growth factor (beta polypeptide) | 162030 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
| NHS | Nance-Horan syndrome (congenital cataracts and dental anomalies) | 300457 | NHS database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| NOG | noggin | 602991 | Sequence alterations in the NOG gene | Sarah Emery |
| NOS1 | nitric oxide synthase 1 (neuronal) | 163731 | Nitric oxide synthase 1 (neuronal) (NOS1) database | Belinda Giardine and Joseph Borg |
| NOS2 | nitric oxide synthase 2, inducible | 163730 | Nitric oxide synthase 2, inducible (NOS2A) database | Belinda Giardine and Joseph Borg |
| NOS3 | nitric oxide synthase 3 (endothelial cell) | 163729 | Nitric oxide synthase 3 (endothelial cell) (NOS3) database | Belinda Giardine and Joseph Borg |
| NOTCH2 | notch 2 | 600275 | Notch homolog 2 (Drosophila) (NOTCH2) | Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| NOTCH3 | notch 3 | 600276 | Notch homolog 3 (NOTCH3) | Elles Boon, LUMC, Leiden, Nederland |
| NOX1 | NADPH oxidase 1 | 300225 | NOX1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| NOX3 | NADPH oxidase 3 | 607105 | NADPH oxidase 3 (NOX3) database | Belinda Giardine and Joseph Borg |
| PNP | purine nucleoside phosphorylase | 164050 | NPbase: Mutation registry for PNP deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| ABO | ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) | 110300 | Blood Group Antigen Mutation Database | Olga O. Blumenfeld Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A |
| ATM | ataxia telangiectasia mutated | 607585 | ATM at LOVD | Patrick Concannon, Memorial Sloan-Kettering Cancer Center, New York, USA |
| NR0B1 | nuclear receptor subfamily 0, group B, member 1 | 300473 | NROB1 - adrenal hypoplasia (DAX1) | Bert Bakker, LUMC, Leiden, Nederland |
| NR2E3 | nuclear receptor subfamily 2, group E, member 3 | 604485 | Mutations of the Photoreceptor cell-specific Nuclear Receptor | Retina International |
| NR2E3 | nuclear receptor subfamily 2, group E, member 3 | 604485 | NR2E3 database at LOVD | Pascal Escher, IRO-Institut de Recherche en Ophtalmologie, Switzerland |
| NR3C1 | nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) | 138040 | Glucocorticoid Receptor Resource database | S.Stoney Simons, Mark Danielsen, Georgetown Univ. Georgetown, USA |
| ATP1A2 | ATPase, Na+/K+ transporting, alpha 2 polypeptide | 182340 | ATP1A2 database at LOVD | Boukje de Vries, LUMC, Leiden, The Netherlands |
| NRL | neural retina leucine zipper | 162080 | Mutations of the Neuroretina-linked Leucine Zipper Gene | Retina International |
| HMGN5 | high-mobility group nucleosome binding domain 5 | 300385 | HMGN5 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| NTRK1 | neurotrophic tyrosine kinase, receptor, type 1 | 191315 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
| NXF3 | nuclear RNA export factor 3 | 300316 | NXF3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| NXF5 | nuclear RNA export factor 5 | 300319 | NXF5 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| FRMD7 | FERM domain containing 7 | 300628 | FRMD7 database at LOVD | Jacopo Celli Leiden Univ. Med Centre (acting), Curator vacancy |
| ATP1B4 | ATPase, Na+/K+ transporting, beta 4 polypeptide | \N | ATP1B4 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| NYX | nyctalopin | 300278 | Mutations of Nyctalopin | Retina International |
| OCA2 | oculocutaneous albinism II | 611409 | Mutations of the P-Gene | Retina International |
| OCA2 | oculocutaneous albinism II | 611409 | Albinism Database | William S. Oetting, Int. Albinism Centre, Univ. of Minnesota, U.S.A. |
| OCRL | oculocerebrorenal syndrome of Lowe | 300535 | Database of the OCRL1 Mutations Causing Lowe Syndrome | Robert L. Nussbaum, Sharon F. Suchy, Ti Lin, Genetic Disease Research Branch, NHGRI/NIH Bethesda, USA |
| ODZ1 | odz, odd Oz/ten-m homolog 1(Drosophila) | 300588 | ODZ1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| OGT | O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) | 300255 | OGT database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| OPA1 | optic atrophy 1 (autosomal dominant) | 605290 | Mutations of the Optic Atrophy 1 Gene | Retina International |
| OPA1 | optic atrophy 1 (autosomal dominant) | 605290 | eOPA1 - MITOchondrial DYNamics variation pages | Marc FERRE, CHU Angers - CNRS 6214/INSERM 1083, France |
| OPHN1 | oligophrenin 1 | 300127 | OPHN1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ATP2B3 | ATPase, Ca++ transporting, plasma membrane 3 | 300014 | ATP2B3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| OTC | ornithine carbamoyltransferase | 300461 | OTC - Ornithine transcarbamylase deficiency | Bert Bakker, LUMC, Leiden, Nederland |
| OTC | ornithine carbamoyltransferase | 300461 | Ornithine Transcarbamylase Deficiency Website | Hiroki Morizono, Mendel Tuchman, Children's National Medical Center, Washington DC, USA |
| OTOF | otoferlin | 603681 | Hereditary Hearing Loss Homepage | Guy van Camp, Univ. of Antwerp, Antwerp, Belgium; Richard J.H. Smith, Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A |
| OTOF | otoferlin | 603681 | **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database | Ammar Husami and Theru A. Sivakumaran |
| OTX2 | orthodenticle homeobox 2 | 600037 | OTX2 Allelic Variant Database | Graeme Grimes, Isabel Hanson, David FitzPatrick, Kathy Williamson and Veronica van Heyningen |
| P2RY4 | pyrimidinergic receptor P2Y, G-protein coupled, 4 | 300038 | P2RY4 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PABPN1 | poly(A) binding protein, nuclear 1 | 602279 | Leiden Muscular Dystrophy pages | Johan T den Dunnen Leiden Univ. Med Centre |
| PAH | phenylalanine hydroxylase | 612349 | Phenylalanine Hydroxylase Locus Knowledgebase | Charles R. Scriver, Lynne Prevost, Mélanie Hurtubise & David Konecki, PAH Mutation Analysis Consortium, McGill University, Montreal, Canada |
| PARK2 | Parkinson disease (autosomal recessive, juvenile) 2, parkin | 602544 | PARK2 Parkinson's disease Mutation Database | The Parkinson's Institute |
| PAX2 | paired box 2 | 167409 | PAX2 Mutation Database | Graeme Grimes & Isabel Hanson, MRC, Human Genetics Unit, Edinburgh, UK |
| PAX2 | paired box 2 | 167409 | PAX2 mutation database | Matthew Bower, University of Minnesota Medical Center |
| PAX3 | paired box 3 | 606597 | PAX3 database at LOVD | Veronique Pingault Laboratoire de Biochimie et Génétique, Hopital Henri Mondor Creteil cedex, France |
| PAX6 | paired box 6 | 607108 | PAX6 Mutation Database-Aniridia Type II | Graeme Grimes & Isabel Hanson, MRC, Human Genetics Unit, Edinburgh, UK |
| PCBD1 | pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha | 126090 | BIOMDB Database of Mutations Causing Tetrahydrobiopterin Deficiencies and PND | Nenad Blau, Univ.Children's Hospital, Zurich |
| PCBD1 | pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha | 126090 | Pterin-4a-carbionolaminedehydratase deficiency-BIOMED database | N. Blau, Univ.Children's Hospital, Zurich, J.L. Dhont, Facultélibre de Médicine, Lille, I.Dianzani, Univ.Torino, Torino, Italy |
| PCCA | propionyl Coenzyme A carboxylase, alpha polypeptide | 232000 | Propionyl CoA Carboxylase Page | Jan P. Kraus, Maja Chloupkova, Dept. Paediatrics, Univ. of Colorado, Sch. Of Med. Denver, USA, Mirek Janosik, Inst. Inherited Metabolic Dis., 1st Fac. Of Med., Charles Univ. Prague, Czech Rep. |
| PCCB | propionyl Coenzyme A carboxylase, beta polypeptide | 232050 | Propionyl CoA Carboxylase Page | Jan P. Kraus, Maja Chloupkova, Dept. Paediatrics, Univ. of Colorado, Sch. Of Med. Denver, USA; Mirek Janosik, Inst. Inherited Metabolic Dis., 1st Fac. Of Med., Charles Univ. Prague, Czech Rep. |
| PCDH11X | protocadherin 11 X-linked | 300246 | PCDH11X database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ATP7A | ATPase, Cu++ transporting, alpha polypeptide | 300011 | ATP7A database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ACAD8 | acyl-CoA dehydrogenase family, member 8 | 604773 | Innsbruck Metabolic Diseases Pages | Barbara Lanthaler, Stefanie Kalb and Martina Witsch-Baumgartner |
| ATP7B | ATPase, Cu++ transporting, beta polypeptide | 606882 | The UMD ATP7B mutations database | Irene Ceballos, Paris, France |
| ATP7B | ATPase, Cu++ transporting, beta polypeptide | 606882 | Wilson Disease Mutation Database | Lisa Davies, Diane Cox, Dept Med Gen, Univ Alberta, Canada |
| CDK16 | cyclin-dependent kinase 16 | 311550 | PCTK1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PCYT1B | phosphate cytidylyltransferase 1, choline, beta | 604926 | PCYT1B database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PDC | phosducin | 171490 | Mutations of the Phosducin Gene | Retina International |
| AIFM1 | apoptosis-inducing factor, mitochondrion-associated, 1 | 300169 | AIFM1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ALDH7A1 | aldehyde dehydrogenase 7 family, member A1 | 107323 | BIOMDB Database of Mutations Causing Tetrahydrobiopterin Deficiencies and PND | Nenad Blau, Beat Thony, Gajja Salomons, Support by Swiss National Science Foundation |
| PDE6A | phosphodiesterase 6A, cGMP-specific, rod, alpha | 180071 | Mutations of the Phosphodiesterase type 6 | Retina International |
| PDE7B | phosphodiesterase 7B | 604645 | Phosphodiesterase 7B (PDE7B) database | Belinda Giardine and Joseph Borg |
| PDHA1 | pyruvate dehydrogenase (lipoamide) alpha 1 | 300502 | PDHA1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PDK3 | pyruvate dehydrogenase kinase, isozyme 3 | 602526 | PDK3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| SLC26A4 | solute carrier family 26, member 4 | 605646 | Hereditary Hearing Loss Homepage | Guy van Camp, Univ. of Antwerp, Antwerp, Belgium; Richard J.H. Smith, Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A |
| SLC26A4 | solute carrier family 26, member 4 | 605646 | **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database | Ammar Husami and Theru A. Sivakumaran |
| SERPINF1 | serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 | 172860 | Osteogenesis Imperfecta Variation Database | Raymond Dalgleish |
| PEX1 | peroxisomal biogenesis factor 1 | 602136 | dbPEX, PEX1 Gene Database | Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA. |
| PEX10 | peroxisomal biogenesis factor 10 | 602859 | dbPEX, PEX10 Gene Database | Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA. |
| PEX12 | peroxisomal biogenesis factor 12 | 601758 | dbPEX, PEX12 Gene Database | Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA. |
| PEX13 | peroxisomal biogenesis factor 13 | 601789 | dbPEX, PEX13 Gene Database | Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA. |
| PEX14 | peroxisomal biogenesis factor 14 | 601791 | dbPEX, PEX14 Gene Database | Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA. |
| PEX16 | peroxisomal biogenesis factor 16 | 603360 | dbPEX, PEX16 Gene Database | Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA. |
| PEX3 | peroxisomal biogenesis factor 3 | 603164 | dbPEX, PEX3 Gene Database | Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA. |
| PEX6 | peroxisomal biogenesis factor 6 | 601498 | dbPEX, PEX6 Gene Database | Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA. |
| ATRX | alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) | 300032 | ATRX database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ATRX | alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) | 300032 | alpha thalassemia/mental Retardation syndrome X-linked (ATRX) database | Belinda Giardine and Joseph Borg |
| PEX7 | peroxisomal biogenesis factor 7 | 601757 | dbPEX, PEX7 Gene Database | Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA. |
| CFP | complement factor properdin | 300383 | PFCbase: Mutation registry for properdin deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| CFP | complement factor properdin | 300383 | CFP database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PFKFB1 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 | 311790 | PFKFB1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PGK1 | phosphoglycerate kinase 1 | 311800 | PGK1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ACADM | acyl-CoA dehydrogenase, C-4 to C-12 straight chain | 607008 | CCHMC - Human Genetics Mutation Database | Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
| AUH | AU RNA binding protein/enoyl-CoA hydratase | 600529 | Innsbruck Metabolic Diseases Pages | Barbara Lanthaler, Stefanie Kalb and Martina Witsch-Baumgartner |
| PHEX | phosphate regulating endopeptidase homolog, X-linked | 300550 | PHEXdb Locus Database | Y. Sabbagh, A. O. Jones, H. S. Tenenhouse, Manyphong Phommarinh, McGill University , Canada, Montreal |
| PHKA1 | phosphorylase kinase, alpha 1 (muscle) | 311870 | PHKA1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PHKA2 | phosphorylase kinase, alpha 2 (liver) | 306000 | PHKA2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| AVP | arginine vasopressin | 192340 | Nephrogenic diabetes Insipidus | Mary Fujiwara, Daniel G. Bichet McGill Uni.& Univ. de Montreal Montreal, Canada |
| AVP | arginine vasopressin | 192340 | nndi ARGININE VASOPRESSIN (AVP) | NNDI Administrator and Ellen Buschman |
| SERPINA1 | serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 | 107400 | A1ATVar: A1-antitrypsin database | G.P. Patrinos and S. Zaimidou |
| SERPINA1 | serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 | 107400 | CCHMC - Human Genetics Mutation Database | Ammar Husami and Theru A. Sivakumaran |
| PIGA | phosphatidylinositol glycan anchor biosynthesis, class A | 311770 | PIGA database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| AVPR2 | arginine vasopressin receptor 2 | 300538 | Nephrogenic Diabetes Insipidus | Mary Fujiwara, Daniel G. Bichet McGill Uni.& Univ. de Montreal Montreal, Canada |
| AVPR2 | arginine vasopressin receptor 2 | 300538 | AVPR2 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PIM2 | pim-2 oncogene | 300295 | PIM2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PIN4 | protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin) | 300252 | PIN4 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PITX3 | paired-like homeodomain 3 | 602669 | PITX3 database at LOVD | Johan T den Dunnen Leiden Univ. Med Centre |
| PKD1 | polycystic kidney disease 1 (autosomal dominant) | 601313 | Autosomal Dominant Polycystic Kidney Disease: Mutation Database | Polycystic Kidney Research Foundation |
| PKD1 | polycystic kidney disease 1 (autosomal dominant) | 601313 | Autosomal Dominant Polycystic Kidney Disease (ADPKD) | Dr. Francesco Caruso, Dr. Riccardo Magistroni, Dr. Daniele Lodi, Dr.ssa Lucia Palmieri and Dr.ssa Paola Carrera |
| PKD2 | polycystic kidney disease 2 (autosomal dominant) | 173910 | Autosomal Dominant Polycystic Kidney Disease: Mutation Database | Polycystic Kidney Research Foundation |
| PKD2 | polycystic kidney disease 2 (autosomal dominant) | 173910 | Autosomal Dominant Polycystic Kidney Disease (ADPKD) | Dr. Francesco Caruso, Dr. Riccardo Magistroni, Dr. Daniele Lodi, Dr.ssa Lucia Palmieri and Dr.ssa Paola Carrera |
| PKHD1 | polycystic kidney and hepatic disease 1 (autosomal recessive) | 606702 | Autosomal Recessive Polycystic Kidney Disease | Carsten Bergmann, Klaus Zerres, Dept. of Human Genetics, Aachen University, Aachen Germany |
| PKLR | pyruvate kinase, liver and RBC | 609712 | PKLR Mutation Database | Richard van Wijk, University Medical Center Utrecht, Utrecht, The Netherlands |
| PKP2 | plakophilin 2 | 602861 | ARVD/C Genes Variants Database | Paul van der Zwaag, Jan Jongbloed and Peter van Tintelen, Dept. of Genetics, Univ Med Center, Groningen, The Netherlands |
| PKP2 | plakophilin 2 | 602861 | ARVD/C Genetic Variants Database | Paul van der Zwaag |
| PLA2G6 | phospholipase A2, group VI (cytosolic, calcium-independent) | 603604 | Mutation Database for Phospholipase A2 GroupVI - Associated Neurodegeneration (PLAN) | Dr Manju A Kurian, Ms Danielle Crompton, and Dr Derek Lim |
| PLEC | plectin | 601282 | Leiden Muscular Dystrophy pages - Plectin (PLEC) | Johan T den Dunnen Leiden Univ. Med Centre |
| PLOD1 | procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 | 153454 | Database of osteogenesis imperfecta & Ehlers-Danlos syndrome variants | Raymond Dalgleish, Leicester, U.K. |
| PLOD2 | procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 | 601865 | Osteogenesis Imperfecta Variant Database | Raymond Dalgleish, Leicester, U.K. |
| PLOD3 | procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 | 603066 | Database of osteogenesis imperfecta & Ehlers-Danlos syndrome variants | Raymond Dalgleish, Leicester, U.K. |
| PLP1 | proteolipid protein 1 | 300401 | Mental Retardation database proteolipid protein 1 (PLP1) | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PLP2 | proteolipid protein 2 (colonic epithelium-enriched) | 300112 | Mental Retardation database proteolipid protein 2 (colonic epithelium-enriched) (PLP2) | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PLS3 | plastin 3 | 300131 | PLS3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ACADSB | acyl-CoA dehydrogenase, short/branched chain | 600301 | Innsbruck Metabolic Diseases Pages | Barbara Lanthaler, Stefanie Kalb and Martina Witsch-Baumgartner |
| PLXNA3 | plexin A3 | 300022 | PLXNA3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PLXNB3 | plexin B3 | 300214 | PLXNB3 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PMM2 | phosphomannomutase 2 | 601785 | Congenital Disorders of Glycosylation pages | Gert Matthijs, Center for Human Genetics Leuven, Belgium |
| PMP22 | peripheral myelin protein 22 | 601097 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
| PMS1 | PMS1 postmeiotic segregation increased 1 (S. cerevisiae) | 600258 | Zhejiang University-Adinovo Center PMS1 Database | Ming Qi, PhD, FACMG, Peikuan Cong, Shu Zheng, MD, Yudong Gao and Changsong Lin |
| PMS1 | PMS1 postmeiotic segregation increased 1 (S. cerevisiae) | 600258 | Hereditary Non-Polyposis Colorectal Cancer, HNPCC | International Collaborative Group on Hereditary Non Polyposis Colorectal Cancer (ICG-HNPCC) |
| PMS2 | PMS2 postmeiotic segregation increased 2 (S. cerevisiae) | 600259 | Hereditary Non-Polyposis Colorectal Cancer, HNPCC | International Collaborative Group on Hereditary Non Polyposis Colorectal Cancer (ICG-HNPCC) |
| PMS2 | PMS2 postmeiotic segregation increased 2 (S. cerevisiae) | 600259 | Zhejiang University-Adinovo Center PMS2 Database | Ming Qi, PhD, FACMG, Peikuan Cong, Shu Zheng, MD, Yudong Gao and Changsong Lin |
| POLA1 | polymerase (DNA directed), alpha 1, catalytic subunit | 312040 | POLA1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| ACADVL | acyl-CoA dehydrogenase, very long chain | 609575 | CCHMC - Human Genetics Mutation Database | Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran |
| POMT1 | protein-O-mannosyltransferase 1 | 607423 | Leiden Muscular Dystrophy Pages | Rosário dos Santos & Johan den Dunnen |
| POR | P450 (cytochrome) oxidoreductase | 124015 | Human Cytochrome P450 (CYP) Allele Nomenclature Committee | Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
| POU3F4 | POU class 3 homeobox 4 | 300039 | Hereditary Hearing Loss Homepage | Guy van Camp, Univ. of Antwerp, Antwerp, Belgium; Richard J.H. Smith, Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A |
| POU3F4 | POU class 3 homeobox 4 | 300039 | POU3F4 database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| POU4F3 | POU class 4 homeobox 3 | 602460 | Hereditary Hearing Loss Homepage | Guy van Camp, Univ. of Antwerp, Antwerp, Belgium; Richard J.H. Smith, Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A |
| B4GALT1 | UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 | 137060 | Congenital Disorders of Glycosylation pages | Gert Matthijs, Center for Human Genetics Leuven, Belgium |
| B4GALT1 | UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 | 137060 | Congenital Disorders of Glycosylation pages | Gert Matthijs, Center for Human Genetics Leuven, Belgium |
| PPEF1 | protein phosphatase, EF-hand calcium binding domain 1 | 300109 | PPEF1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PPIB | peptidylprolyl isomerase B (cyclophilin B) | 123841 | Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants | Raymond Dalgleish, Leicester, U.K. |
| PPT1 | palmitoyl-protein thioesterase 1 | 600722 | Neuronal Ceroid Lipofuscinoses; NCL Mutations | Sara E. Mole, MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom |
| PPT1 | palmitoyl-protein thioesterase 1 | 600722 | Mutations of the Palmitoyl-Protein Thioesterase Gene (PPT CLN1) Gene | Retina International |
| PQBP1 | polyglutamine binding protein 1 | 300463 | PQBP1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PRF1 | perforin 1 (pore forming protein) | 170280 | PRF1base: Mutation registry for Familiar haemophagocytic lymphohistiocytosis, type II (FHL2) | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| PRF1 | perforin 1 (pore forming protein) | 170280 | **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database | Ammar Husami and Theru A. Sivakumaran |
| BAG3 | BCL2-associated athanogene 3 | 603883 | Leiden Muscular Dystrophy pages | Johan T. den Dunnen Leiden Univ. Med Centre |
| PRKCG | protein kinase C, gamma | 176980 | Mutations of the Protein Kinase C γ | Retina International |
| PRKX | protein kinase, X-linked | 300083 | PRKX database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PRNP | prion protein | 176640 | Prion Protein/CJD database | Sperling Biomedical Foundation, Oregon, U.S.A. |
| PROM1 | prominin 1 | 604365 | Mutations of the Prominin (mouse)-like 1 gene (PROML1) | Retina International |
| PROM1 | prominin 1 | 604365 | Prominin 1 (PROM1) database at LOVD | Pascal Escher, IRO-Institut de Recherche en Ophtalmologie, Switzerland |
| PROS1 | protein S (alpha) | 176880 | Protein S Deficiency: A database of Mutations | S. Gandrille, INSERM U. 428, UFR des Sciences Pharmaceutiques et Biologiques, 4 Avenue de l'Observatoire, 75006 Paris, FRANCE |
| PRPS1 | phosphoribosyl pyrophosphate synthetase 1 | 311850 | PRPS1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PRPS2 | phosphoribosyl pyrophosphate synthetase 2 | 311860 | PRPS2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PRRG1 | proline rich Gla (G-carboxyglutamic acid) 1 | 604428 | PRRG1 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PRSS1 | protease, serine, 1 (trypsin 1) | 276000 | Database of genetic variants in patients with chronic pancreatitis | Niels Teich, Universität Leipzig, Medizinische Klinik und Poliklinik IID-04103 Leipzig, Germany |
| PSEN1 | presenilin 1 | 104311 | Alzheimer Disease & Frontotemporal Dementia Mutation Database | Marc Cruts & Nathalie Brouwers Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
| PSEN2 | presenilin 2 (Alzheimer disease 4) | 600759 | Alzheimer Disease & Frontotemporal Dementia Mutation Database | Marc Cruts & Nathalie Brouwers, Molecular Genetics Department, Flanders Interuniversity, Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
| PSMD10 | proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 | 603480 | PSMD10 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| PSTPIP1 | proline-serine-threonine phosphatase interacting protein 1 | 606347 | PAPA syndrome: INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations | Carol Wise, Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children,Dallas, USA |
| PTCH1 | patched homolog 1 (Drosophila) | 601309 | PTCH Mutation Database | Rune Toftgard, Karolinska Institut, Sweden; Georgia Chenevix-Trench, QIMR, Brisbane, Australia; Mike Dean, National Cancer Institute, Maryland, U.S.A. |
| PTGIS | prostaglandin I2 (prostacyclin) synthase | 601699 | Human Cytochrome P450 (CYP) Allele Nomenclature Committee | Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden |
| BBS1 | Bardet-Biedl syndrome 1 | 209901 | EURO-WABB Open Variation Database | Dewi Astuti |
| BBS1 | Bardet-Biedl syndrome 1 | 209901 | Mutations of the Bardet-Biedl Syndrome Type 1 Gene (BBS2L2) | Retina International |
| PTPRC | protein tyrosine phosphatase, receptor type, C | 151460 | PTPRCbase: Mutation registry for CD45 deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| BBS2 | Bardet-Biedl syndrome 2 | 606151 | Mutations of the Bardet-Biedl Syndrome Type 2 Gene | Retina International |
| BBS2 | Bardet-Biedl syndrome 2 | 606151 | EURO-WABB Open Variation Database | Dewi Astuti |
| PTRF | polymerase I and transcript release factor | 603198 | Leiden Muscular Dystrophy pages | Johan T. den Dunnen Leiden Univ. Med Centre, other curators invited |
| PTS | 6-pyruvoyltetrahydropterin synthase | 261640 | 6-Pyruvoyl-tetrahydropterinsynthase deficiency-BIOMED database | N. Blau, Univ.Children's Hospital, Zurich; J.L. Dhont, Faculté libre de Médicine, Lille, France; I.Dianzani, Univ.Torino, Torino, Italy |
| BBS4 | Bardet-Biedl syndrome 4 | 600374 | EURO-WABB Project Open Variation Database | Dewi Astuti |
| BBS4 | Bardet-Biedl syndrome 4 | 600374 | Mutations of the Bardet-Biedl Syndrome Type 4 Gene | Retina International |
| BBS5 | Bardet-Biedl syndrome 5 | 603650 | EURO-WABB Project Open Variation Database | Dewi Astuti |
| PEX19 | peroxisomal biogenesis factor 19 | 600279 | dbPEX, PEX19 Gene Database | Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA. |
| PEX2 | peroxisomal biogenesis factor 2 | 170993 | dbPEX, PEX2 Gene Database | Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA. |
| PEX5 | peroxisomal biogenesis factor 5 | 600414 | dbPEX, PEX5 Gene Database | Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA. |
| QDPR | quinoid dihydropteridine reductase | 261630 | Quinoid Dihydropteridinereductase deficiency- BIOMED database | N. Blau, Univ.Children's Hospital, Zurich; J.L. Dhont, Faculté libre de Médicine, Lille, France; I.Dianzani, Univ.Torino, Torino, Italy |
| RAB27A | RAB27A, member RAS oncogene family | 603868 | CCHMC - Human Genetics Mutation Database | Ammar Husami and Theru A. Sivakumaran |
| RAB27A | RAB27A, member RAS oncogene family | 603868 | RAB27Abase: Mutation registry for Griscelli syndrome, type 2 (GS2) | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| RAB27A | RAB27A, member RAS oncogene family | 603868 | Mutations of the Small Nucleotide-binding Protein 27a Gene | Retina International |
| RAB33A | RAB33A, member RAS oncogene family | 300333 | RAB33A database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| RAB7A | RAB7A, member RAS oncogene family | 602298 | Inherited Peripheral Neuropathies Mutation Database | Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
| RAC2 | ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) | 602049 | RAC2base: Mutation registry for Neutrophil immunodeficiency syndrome | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| BCHE | butyrylcholinesterase | 177400 | ESTHER www server: ESTerases and alpha/beta Hydrolase Enzymes and Relatives | Xavier Cousin, Institut National de la Recherche, Agronomique, Montpellier, France |
| RAG1 | recombination activating gene 1 | 179615 | RAG1base: Mutation registry for autosomal recessive RAG1 deficiency | Mauno Vihinen, Anna Villa, Univ. of Tampere, Tampere, Finland |
| RAG2 | recombination activating gene 2 | 179616 | RAG2base: Mutation registry for autosomal recessive RAG2 deficiency | Mauno Vihinen, Anna Villa, Univ. of Tampere, Tampere, Finland |
| RAI2 | retinoic acid induced 2 | 300217 | RAI2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| RASA1 | RAS p21 protein activator (GTPase activating protein) 1 | 139150 | RASA1 - Related Disorders, RASA1 Gene Database | Pinar Bayrak-Toydemir, University of Utah, ARUP Laboratories |
| RB1 | retinoblastoma 1 | 180200 | rb1-lsdb, Universitat Duisburg-Essen | Dietmar R. Lohmann and Julia Röwenstrunk, Universitat Duisburg-Essen, Germany |
| RBM10 | RNA binding motif protein 10 | 300080 | RBM10 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| RBMX | RNA binding motif protein, X-linked | 300199 | RBMX database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| OPN1LW | opsin 1 (cone pigments), long-wave-sensitive | 303900 | Mutations of the Photopigments - Red (RCP), Green (GCP), and Blue Cone Pigment (BCP) | Retina International |
| RDH5 | retinol dehydrogenase 5 (11-cis/9-cis) | 601617 | Mutations of the 11-cis Retinol Dehydrogenase Gene | Retina International |
| PRPH2 | peripherin 2 (retinal degeneration, slow) | 179605 | Mutations of the RDS/Peripherin Gene | Retina International |
| RENBP | renin binding protein | 312420 | RENBP database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| REPS2 | RALBP1 associated Eps domain containing 2 | 300317 | REPS2 database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| RET | ret proto-oncogene | 164761 | Multiple Endocrine Neoplasia type 2 (MEN2) RET database | Dr. Rebecca Margraf and Dr. Rong Mao, ARUP Institute for Clinical and Experimental Pathology(r), Salt Lake, City, UT, USA |
| RFX5 | regulatory factor X, 5 (influences HLA class II expression) | 601863 | RFX5base: Mutation registry for MHCII promoter X box regulatory factor 5 deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| RFXANK | regulatory factor X-associated ankyrin-containing protein | 603200 | RFXANKbase: Mutation registry for Ankyrin repeat containing regulatory factor X-associated protein deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| RFXAP | regulatory factor X-associated protein | 601861 | RFXAPbase: Mutation registry for Regulatory factor X-associated protein deficiency | Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
| RGR | retinal G protein coupled receptor | 600342 | Mutations of the RPE-Retinal G-Protein-Coupled Receptor | Retina International |
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