IMPORTANT NOTE:  

 

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.

 

A (132) | B (54) | C (205) | D (45) | E (30) | F (80) | G (88) | H (109) | I (76) | J (9) | K (51) | L (35) | M (124) | N (53) | O (17) | P (143) | Q (1) | R (69) | S (130) | T (112) | U (26) | V (12) | W (12) | X (7) | Y (1) | Z (25)
HGNC GENE SYMBOLsort ascending HGNC gene description OMIM NO DATABASE NAME/INTERNET ADDRESS CURATORS
RGR retinal G protein coupled receptor 600342 Mutations of the RPE-Retinal G-Protein-Coupled Receptor Retina International
RFXAP regulatory factor X-associated protein 601861 RFXAPbase: Mutation registry for Regulatory factor X-associated protein 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
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
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
REPS2 RALBP1 associated Eps domain containing 2 300317 REPS2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RENBP renin binding protein 312420 RENBP database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PRPH2 peripherin 2 (retinal degeneration, slow) 179605 Mutations of the RDS/Peripherin Gene Retina International
RDH5 retinol dehydrogenase 5 (11-cis/9-cis) 601617 Mutations of the 11-cis Retinol Dehydrogenase Gene Retina International
OPN1LW opsin 1 (cone pigments), long-wave-sensitive 303900 Mutations of the Photopigments - Red (RCP), Green (GCP), and Blue Cone Pigment (BCP) Retina International
RBMX RNA binding motif protein, X-linked 300199 RBMX database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RBM10 RNA binding motif protein 10 300080 RBM10 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RB1 retinoblastoma 1 180200 rb1-lsdb, Universitat Duisburg-Essen Dietmar R. Lohmann and Julia Röwenstrunk, Universitat Duisburg-Essen, Germany
RASA1 RAS p21 protein activator (GTPase activating protein) 1 139150 RASA1 - Related Disorders, RASA1 Gene Database Pinar Bayrak-Toydemir, University of Utah, ARUP Laboratories
RAI2 retinoic acid induced 2 300217 RAI2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RAG2 recombination activating gene 2 179616 RAG2base: Mutation registry for autosomal recessive RAG2 deficiency Mauno Vihinen, Anna Villa, Univ. of Tampere, Tampere, Finland
RAG1 recombination activating gene 1 179615 RAG1base: Mutation registry for autosomal recessive RAG1 deficiency Mauno Vihinen, Anna Villa, 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
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
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
RAB33A RAB33A, member RAS oncogene family 300333 RAB33A database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
RAB27A RAB27A, member RAS oncogene family 603868 CCHMC - Human Genetics Mutation Database Ammar Husami and Theru A. Sivakumaran
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
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.
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.
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.
BBS5 Bardet-Biedl syndrome 5 603650 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
BBS4 Bardet-Biedl syndrome 4 600374 EURO-WABB Project Open Variation Database Dewi Astuti
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
PTRF polymerase I and transcript release factor 603198 Leiden Muscular Dystrophy pages Johan T. den Dunnen Leiden Univ. Med Centre, other curators invited
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
PTPRC protein tyrosine phosphatase, receptor type, C 151460 PTPRCbase: Mutation registry for CD45 deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
BBS1 Bardet-Biedl syndrome 1 209901 Mutations of the Bardet-Biedl Syndrome Type 1 Gene (BBS2L2) Retina International
BBS1 Bardet-Biedl syndrome 1 209901 EURO-WABB Open Variation Database Dewi Astuti
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
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.
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
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
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
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
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
PRRG1 proline rich Gla (G-carboxyglutamic acid) 1 604428 PRRG1 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
PRPS1 phosphoribosyl pyrophosphate synthetase 1 311850 PRPS1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
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
PRNP prion protein 176640 Prion Protein/CJD database Sperling Biomedical Foundation, Oregon, U.S.A.
PRKX protein kinase, X-linked 300083 PRKX database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PRKCG protein kinase C, gamma 176980 Mutations of the Protein Kinase C γ Retina International
BAG3 BCL2-associated athanogene 3 603883 Leiden Muscular Dystrophy pages Johan T. den Dunnen Leiden Univ. Med Centre
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
PQBP1 polyglutamine binding protein 1 300463 PQBP1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
PPIB peptidylprolyl isomerase B (cyclophilin B) 123841 Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants Raymond Dalgleish, Leicester, U.K.
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
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
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
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
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
POMT1 protein-O-mannosyltransferase 1 607423 Leiden Muscular Dystrophy Pages Rosário dos Santos & Johan den Dunnen
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
POLA1 polymerase (DNA directed), alpha 1, catalytic subunit 312040 POLA1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
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)
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
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
PMM2 phosphomannomutase 2 601785 Congenital Disorders of Glycosylation pages Gert Matthijs, Center for Human Genetics Leuven, Belgium
PLXNB3 plexin B3 300214 PLXNB3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PLXNA3 plexin A3 300022 PLXNA3 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
PLS3 plastin 3 300131 PLS3 database at LOVD 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
PLP1 proteolipid protein 1 300401 Mental Retardation database proteolipid protein 1 (PLP1) Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 603066 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.
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 153454 Database of osteogenesis imperfecta & Ehlers-Danlos syndrome variants Raymond Dalgleish, Leicester, U.K.
PLEC plectin 601282 Leiden Muscular Dystrophy pages - Plectin (PLEC) Johan T den Dunnen Leiden Univ. Med Centre
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
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
PKLR pyruvate kinase, liver and RBC 609712 PKLR Mutation Database Richard van Wijk, University Medical Center Utrecht, Utrecht, The Netherlands
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
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
PKD2 polycystic kidney disease 2 (autosomal dominant) 173910 Autosomal Dominant Polycystic Kidney Disease: Mutation Database Polycystic Kidney Research Foundation
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
PITX3 paired-like homeodomain 3 602669 PITX3 database at LOVD Johan T den Dunnen Leiden Univ. Med Centre
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
PIM2 pim-2 oncogene 300295 PIM2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
AVPR2 arginine vasopressin receptor 2 300538 AVPR2 database at LOVD Jacopo Celli and Johan 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
PIGA phosphatidylinositol glycan anchor biosynthesis, class A 311770 PIGA database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
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
PHKA2 phosphorylase kinase, alpha 2 (liver) 306000 PHKA2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PHKA1 phosphorylase kinase, alpha 1 (muscle) 311870 PHKA1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
AUH AU RNA binding protein/enoyl-CoA hydratase 600529 Innsbruck Metabolic Diseases Pages Barbara Lanthaler, Stefanie Kalb and Martina Witsch-Baumgartner
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
PGK1 phosphoglycerate kinase 1 311800 PGK1 database at LOVD Johan T. 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
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
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.
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
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
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.
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.
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.
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.
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.
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.
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.
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.
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 172860 Osteogenesis Imperfecta Variation Database Raymond Dalgleish
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
PDK3 pyruvate dehydrogenase kinase, isozyme 3 602526 PDK3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 300502 PDHA1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PDE7B phosphodiesterase 7B 604645 Phosphodiesterase 7B (PDE7B) database Belinda Giardine and Joseph Borg
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha 180071 Mutations of the Phosphodiesterase type 6 Retina International
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
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1 300169 AIFM1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PDC phosducin 171490 Mutations of the Phosducin Gene Retina International
PCYT1B phosphate cytidylyltransferase 1, choline, beta 604926 PCYT1B database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CDK16 cyclin-dependent kinase 16 311550 PCTK1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
ATP7B ATPase, Cu++ transporting, beta polypeptide 606882 Wilson Disease Mutation Database Lisa Davies, Diane Cox, Dept Med Gen, Univ Alberta, Canada
ATP7B ATPase, Cu++ transporting, beta polypeptide 606882 The UMD ATP7B mutations database Irene Ceballos, Paris, France
ACAD8 acyl-CoA dehydrogenase family, member 8 604773 Innsbruck Metabolic Diseases Pages Barbara Lanthaler, Stefanie Kalb and Martina Witsch-Baumgartner
ATP7A ATPase, Cu++ transporting, alpha polypeptide 300011 ATP7A database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PCDH11X protocadherin 11 X-linked 300246 PCDH11X database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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.
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.
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
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
PAX6 paired box 6 607108 PAX6 Mutation Database-Aniridia Type II Graeme Grimes & Isabel Hanson, MRC, Human Genetics Unit, Edinburgh, UK
PAX3 paired box 3 606597 PAX3 database at LOVD Veronique Pingault Laboratoire de Biochimie et Génétique, Hopital Henri Mondor Creteil cedex, France
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
PARK2 Parkinson disease (autosomal recessive, juvenile) 2, parkin 602544 PARK2 Parkinson's disease Mutation Database The Parkinson's Institute
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
PABPN1 poly(A) binding protein, nuclear 1 602279 Leiden Muscular Dystrophy pages Johan T den Dunnen Leiden Univ. Med Centre
P2RY4 pyrimidinergic receptor P2Y, G-protein coupled, 4 300038 P2RY4 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
OTX2 orthodenticle homeobox 2 600037 OTX2 Allelic Variant Database Graeme Grimes, Isabel Hanson, David FitzPatrick, Kathy Williamson and Veronica van Heyningen
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
OTC ornithine carbamoyltransferase 300461 Ornithine Transcarbamylase Deficiency Website Hiroki Morizono, Mendel Tuchman, Children's National Medical Center, Washington DC, USA
OTC ornithine carbamoyltransferase 300461 OTC - Ornithine transcarbamylase deficiency Bert Bakker, LUMC, Leiden, Nederland
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3 300014 ATP2B3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
OPHN1 oligophrenin 1 300127 OPHN1 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
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
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
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
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.
NYX nyctalopin 300278 Mutations of Nyctalopin Retina International
ATP1B4 ATPase, Na+/K+ transporting, beta 4 polypeptide \N ATP1B4 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
NXF5 nuclear RNA export factor 5 300319 NXF5 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
NXF3 nuclear RNA export factor 3 300316 NXF3 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
HMGN5 high-mobility group nucleosome binding domain 5 300385 HMGN5 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
NRL neural retina leucine zipper 162080 Mutations of the Neuroretina-linked Leucine Zipper Gene Retina International
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide 182340 ATP1A2 database at LOVD Boukje de Vries, LUMC, Leiden, The Netherlands
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
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
NR0B1 nuclear receptor subfamily 0, group B, member 1 300473 NROB1 - adrenal hypoplasia (DAX1) Bert Bakker, LUMC, Leiden, Nederland
ATM ataxia telangiectasia mutated 607585 ATM at LOVD Patrick Concannon, Memorial Sloan-Kettering Cancer Center, New York, USA
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
PNP purine nucleoside phosphorylase 164050 NPbase: Mutation registry for PNP deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
NOX3 NADPH oxidase 3 607105 NADPH oxidase 3 (NOX3) database Belinda Giardine and Joseph Borg
NOX1 NADPH oxidase 1 300225 NOX1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
NOTCH3 notch 3 600276 Notch homolog 3 (NOTCH3) Elles Boon, LUMC, Leiden, Nederland
NOTCH2 notch 2 600275 Notch homolog 2 (Drosophila) (NOTCH2) Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
NOS3 nitric oxide synthase 3 (endothelial cell) 163729 Nitric oxide synthase 3 (endothelial cell) (NOS3) 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
NOS1 nitric oxide synthase 1 (neuronal) 163731 Nitric oxide synthase 1 (neuronal) (NOS1) database Belinda Giardine and Joseph Borg
NOG noggin 602991 Sequence alterations in the NOG gene Sarah Emery
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
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
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
NF1 neurofibromin 1 162200 NF1 @ The Center for Medical Genetics, Ghent University Hospital, Belgium Ophelia Maertens, Centre for Medical Genetics, Gent, 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.
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
NEB nebulin 161650 Leiden Muscular Dystrophy Pages Katarina Pelin, Tom Winder, Vilma-Lotta Lehtokari & Johan den Dunnen
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
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
NDP Norrie disease (pseudoglioma) 300658 Mutations of the Norrie Disease Gene Retina International
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
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
NBN nibrin 602667 NBN - Leiden Open Variation Database Jacopo Celli Leiden Univ. Med Centre (acting), Curator vacancy
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
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
NAP1L3 nucleosome assembly protein 1-like 3 300117 NAP1L3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
NAP1L2 nucleosome assembly protein 1-like 2 300026 NAP1L2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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.
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
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
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
MYO5A myosin VA (heavy chain 12, myoxin) 160777 MYO5Abase: Mutation registry for Griscelli syndrome, type 1 (GS1) Mauno Vihinen, Univ. of Tampere, Tampere, Finland
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
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
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
ASS1 argininosuccinate synthase 1 603470 ASS1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
ASS1 argininosuccinate synthase 1 603470 Argininosuccinate synthetase 1 (ASS1) database Belinda Giardine and Joseph Borg
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
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
ASPA aspartoacylase (Canavan disease) 608034 aspartoacylase (Canavan disease) (ASPA) Variation Database Gajja Salomons
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
MYB v-myb myeloblastosis viral oncogene homolog (avian) 189990 Homo sapiens v-myb myeloblastosis viral oncogene homolog (MYB) database Belinda Giardine and Joseph Borg
MXRA5 matrix-remodelling associated 5 \N MXRA5 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
MUTYH mutY homolog (E. coli) 604933 MUTYH - mutY homolog Astrid Out & Carli Tops, LUMC, Leiden, Nederland
MUT methylmalonyl CoA mutase 609058 Zhejiang University Center for Genetic and Genomic Medicine - MUT Ming Qi, PhD, FACMG, Peikuan Cong and Yanling Chen
ASMTL acetylserotonin O-methyltransferase-like 400011 ASMTL database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
ASMT acetylserotonin O-methyltransferase 402500 ASMT database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MT-TS2 mitochondrially encoded tRNA serine 2 (AGU/C) 590085 Mutations of the Second Mitochondrial Serine tRNA Gene Retina International
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
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase 156570 Zhejiang University Center for Genetic and Genomic Medicine - MTR Ming Qi, PhD, FACMG, Peikuan Cong and Yanling Chen
ASL argininosuccinate lyase 608310 ASL 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
MTMR1 myotubularin related protein 1 300171 MTMR1 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
MSN moesin 309845 MSN database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MSL3 male-specific lethal 3 homolog (Drosophila) 300609 MSL3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
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
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
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
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
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
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
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
MPP1 membrane protein, palmitoylated 1, 55kDa 305360 MPP1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MPO myeloperoxidase 606989 MPObase: Mutation registry for Myeloperoxidase deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
MPL myeloproliferative leukemia virus oncogene 159530 Mendelian genes (MPL2) Mathias Vilaine, Nantes, France
MPI mannose phosphate isomerase 154550 Congenital Disorder 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
MPDU1 mannose-P-dolichol utilization defect 1 604041 Congenital Disorders of Glycosylation pages Gert Matthijs, Center for Human Genetics Leuven, Belgium
ARSE arylsulfatase E (chondrodysplasia punctata 1) 300180 ARSE database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
ARSD arylsulfatase D 300002 ARSD 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
FOXO4 forkhead box O4 300033 FOXO4 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
MLH3 mutL homolog 3 (E. coli) 604395 Hereditary Non-Polyposis Colorectal Cancer, HNPCC International Collaborative Group on Hereditary Non Polyposis Colorectal Cancer (ICG-HNPCC)
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
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
MKKS McKusick-Kaufman syndrome 604896 EURO-WABB Project Open Variation Database Dewi Astuti
MKKS McKusick-Kaufman syndrome 604896 Mutations of the McKusick-Kaufman Gene Retina International
MITF microphthalmia-associated transcription factor 156845 MITF database at LOVD Veronique Pingault Laboratoire de Biochimie et Génétique, Hopital Henri Mondor Creteil cedex, France
MID2 midline 2 300204 MID2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MID1 midline 1 (Opitz/BBB syndrome) 300552 MID1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MICB MHC class I polypeptide-related sequence B 602436 IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
MICA MHC class I polypeptide-related sequence A 600169 IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
CD99 CD99 molecule 450000 CD99 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
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
MERTK c-mer proto-oncogene tyrosine kinase 604705 Mutations of the MER Receptor Tyrosine Kinase Gene Retina International
MEN1 multiple endocrine neoplasia I 613733 Multiple endocrine neoplasia and MEN1 missense variants Database Kelli Sumner, University of Utah, ARUP Laboratories
MEN1 multiple endocrine neoplasia I 613733 The UMD MEN1 mutations database Alain Calender, Genetic Unit and INSERM U45, Hôpital Edouard Herriot, LYON, France
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
MECP2 methyl CpG binding protein 2 (Rett syndrome) 300005 **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database Ammar Husami and Theru A. Sivakumaran
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
MCF2 MCF.2 cell line derived transforming sequence 311030 MCF2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MATR3 matrin 3 164015 Leiden Muscular Dystrophy pages Johan T den Dunnen Leiden Univ. Med Centre
MASP2 mannan-binding lectin serine peptidase 2 605102 MASP2base: Mutation registry for MASP-2 deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
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
MAP3K7 mitogen-activated protein kinase kinase kinase 7 602614 Mitogen-activated protein kinase kinase kinase 7 (MAP3K7) Belinda Giardine and Joseph Borg
MAP3K5 mitogen-activated protein kinase kinase kinase 5 602448 Mitogen-activated protein kinase kinase kinase 5 (MAP3K5) 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
MAP2K1 mitogen-activated protein kinase kinase 1 176872 Mitogen-activated protein kinase kinase 1 (MAP2K1) database Belinda Giardine and Joseph Borg
MAOB monoamine oxidase B 309860 MAOB 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
MAGED1 melanoma antigen family D, 1 300224 MAGED1 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
MAGEB4 melanoma antigen family B, 4 300153 MAGEB4 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
MAGEB2 melanoma antigen family B, 2 300098 MAGEB2 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
MAGEA8 melanoma antigen family A, 8 300341 MAGEA8 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
MAGEA4 melanoma antigen family A, 4 300175 MAGEA4 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
MAGEA12 melanoma antigen family A, 12 300177 MAGEA12 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
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
MAF v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian) 177075 MAF database at LOVD Johan T den Dunnen Leiden Univ. Med Centre
SMAD6 SMAD family member 6 602931 SMAD family member 6 (SMAD6) 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
SMAD3 SMAD family member 3 603109 SMAD family member 3 (SMAD3) database Belinda Giardine and Joseph Borg
ARHGAP6 Rho GTPase activating protein 6 300118 ARHGAP6 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
ARHGAP4 Rho GTPase activating protein 4 300023 ARHGAP4 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
LRP5 low density lipoprotein receptor-related protein 5 603506 LOVD - Leiden Open Variation Database Wim van Hul
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) 604863 Mutations of the Lecithin Retinol Acyltransferase Gene Retina International
PRICKLE3 prickle homolog 3 (Drosophila) 300111 PRICKLE3 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
ARG2 arginase, type II 107830 Arginase, type II (ARG2) database Belinda Giardine and Joseph Borg
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
LMNA lamin A/C 150330 The LMNA mutations database G. Bonne, France
ARG1 arginase, liver 608313 ARG1database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
LIM2 lens intrinsic membrane protein 2, 19kDa 154045 LIM2 database at LOVD Johan T den Dunnen Leiden Univ. Med Centre
LIG4 ligase IV, DNA, ATP-dependent 601837 LIG4base: Mutation registry for LIG4 syndrome Mauno Vihinen, Univ. of Tampere, Tampere, Finland
LIG1 ligase I, DNA, ATP-dependent 126391 LIG1base: Mutation registry for DNA ligase I deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
LHFPL1 lipoma HMGIC fusion partner-like 1 300566 LHFPL1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
LARGE like-glycosyltransferase 603590 Leiden Muscular Dystrophy Pages Johan den Dunnen, LUMC, Leiden, Nederland
LAMP2 lysosomal-associated membrane protein 2 309060 LAMP2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
LAMA2 laminin, alpha 2 156225 Leiden Muscular Dystrophy Pages Johan T. den Dunnen, Leiden Univ. Med Centre, Leiden, The Netherlands
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
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
AR androgen receptor 313700 AR database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
AR androgen receptor 313700 Androgen Receptor Bruce Gottlieb L. Pinsky Lady Davis Inst. Med. Res., Montreal, Canada
AQP9 aquaporin 9 602914 Aquaporin 9 (AQP9) database Belinda Giardine and Joseph Borg
KRAS v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog 190070 Mendelian genes (KRAS) Etienne Rouleau
KLHL4 kelch-like 4 (Drosophila) 300348 KLHL4 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
KLF1 Kruppel-like factor 1 (erythroid) 600599 The Globin Gene Server Belinda Giardine and Joseph Borg
KL klotho 604824 Klotho (KL) database Belinda Giardine and Joseph Borg
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
AQP2 aquaporin 2 (collecting duct) 107777 Nephrogenic diabetes Insipidus Mary Fujiwara, Daniel G. Bichet McGill Uni.& Univ. de Montreal Montreal, Canada
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
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
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
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
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
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
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
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
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
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
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
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
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
KDR kinase insert domain receptor (a type III receptor tyrosine kinase) 191306 Kinase insert domain receptor (KDR) database Belinda Giardine and Joseph Borg
SHROOM2 shroom family member 2 300103 SHROOM2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
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
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
KCNJ2 potassium inwardly-rectifying channel, subfamily J, member 2 600681 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 Long QT Syndrome Database Michael Christiansen, Lars A. Larsen, Paal Skytt Andersen, Molecular Cardiology grp, Statens Serum Institut, Copenhagen, Denmark
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
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
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
KCNE1L KCNE1-like 300328 KCNE1L 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 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
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
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
KAL1 Kallmann syndrome 1 sequence 308700 KAL1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
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
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
JAK2 Janus kinase 2 147796 Mendelian genes Janus kinase 2 (JAK2) LOVD-Team , but with Curator vacancy
JAG1 jagged 1 601920 CCHMC Molecular Genetics Laboratory Mutation Database Ammar Husami and Theru A. Sivakumaran
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
IVD isovaleryl-CoA dehydrogenase 607036 LOVD 3.0 shared installation (IVD) Ivo F.A.C. Fokkema, Leiden Univ. Med Centre
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
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.
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
ITGA7 integrin, alpha 7 600536 Leiden Muscular Dystrophy pages Johan T den Dunnen Leiden Univ. Med Centre
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.
IRS4 insulin receptor substrate 4 603510 IRS4 database at LOVD Johan T. 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
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
FOXP3 forkhead box P3 300292 CCHMC - Human Genetics Mutation Database Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran
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.
INE1 inactivation escape 1 (non-protein coding) 300164 INE1 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
IL9R interleukin 9 receptor 300007 IL9R database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
IL7R interleukin 7 receptor 146661 IL7Rbase: Mutation registry for Interleukin-7 receptor α deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
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
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
IL2RA interleukin 2 receptor, alpha 147730 IL2RAbase: Mutation registry for Interleuken 2 receptor α deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
IL1RAPL2 interleukin 1 receptor accessory protein-like 2 300277 IL1RAPL2 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
IL13RA2 interleukin 13 receptor, alpha 2 300130 IL13RA2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
IL13RA1 interleukin 13 receptor, alpha 1 300119 IL13RA1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
IL12RB1 interleukin 12 receptor, beta 1 601604 IL12RB1base: Mutation registry for Interleukin-12 receptor ß1 deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
IL12RB1 interleukin 12 receptor, beta 1 601604 Mendelian genes (IL12RB1) Esther van de Vosse
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
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
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
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex- 603722 Leiden Muscular Dystrophy pages (IKBKAP) Johan den Dunnen
IGSF1 immunoglobulin superfamily, member 1 300137 IGSF1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
IGLV@ immunoglobulin lambda variable group 147240 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
IGLJ@ immunoglobulin lambda joining group 147230 IMGT; the international ImMunoGeneTics information system ® Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France
IGLC1 immunoglobulin lambda constant 1 (Mcg marker) 147220 IMGT; the international ImMunoGeneTics information system ® Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France
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
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
IGKV@ immunoglobulin kappa variable group 146980 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
IGKC immunoglobulin kappa constant 147200 IMGT; the international ImMunoGeneTics information system ® Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France
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
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
AP3B1 adaptor-related protein complex 3, beta 1 subunit 603401 Mutations of the Adaptin b3a Gene Retina International
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
IGHV@ immunoglobulin heavy variable group 147070 IMGT; the international ImMunoGeneTics information system ® Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France
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
IGHMBP2 immunoglobulin mu binding protein 2 600502 LOVD 3.0 shared installation (IGHMBP2) LOVD-team, but with Curator vacancy
IGHM immunoglobulin heavy constant mu 147020 IGHMbase: Mutation registry for µ heavy-chain 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
IGHG2 immunoglobulin heavy constant gamma 2 (G2m marker) 147110 IGHG2base: Mutation registry for IgG2 deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
IGHD immunoglobulin heavy constant delta 147170 IMGT; the international ImMunoGeneTics information system ® Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France
IGFALS insulin-like growth factor binding protein, acid labile subunit 601489 IGFALS database at LOVD H Jasper and HM Domené
IGF2 insulin-like growth factor 2 (somatomedin A) 147470 LOVD growth Irene Netchine and Yves le Bouc
IGF1R insulin-like growth factor 1 receptor 147370 LOVD growth Roland Pfaeffle and Wieland Kiess
IGF1 insulin-like growth factor 1 (somatomedin C) 147440 LOVD growth Jan Maarten Wit and Marie-Jose Walenkamp
IGBP1 immunoglobulin (CD79A) binding protein 1 300139 IGBP1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
IFNGR2 interferon gamma receptor 2 (interferon gamma transducer 1) 147569 IFNGR2base: Mutation registry for IFNγ2-receptor deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
IFNGR2 interferon gamma receptor 2 (interferon gamma transducer 1) 147569 Mendelian genes (IFNGR2) Esther van de Vosse
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
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
CFI complement factor I 217030 CFIbase: Mutation registry for Factor I deficiency (previously known as IFbase) Mauno Vihinen, Univ. of Tampere, Tampere, Finland
IDUA iduronidase, alpha-L- 252800 Mendelian genes (IDUA) Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
IDS iduronate 2-sulfatase 309900 IDS database at LOVD Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
ICOS inducible T-cell co-stimulator 604558 ICOSbase: Mutation registry for ICOS deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
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
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
HTR3B 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic 604654 HTR3B database at Heidelberg University Dr. Beate Niesler, Heidelberg University
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
HTR2C 5-hydroxytryptamine (serotonin) receptor 2C 312861 HTR2C database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
HTATSF1 HIV-1 Tat specific factor 1 300346 HTATSF1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
HSF4 heat shock transcription factor 4 602438 HSF4 database at LOVD Johan T den Dunnen Leiden Univ. Med Centre
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
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4 601860 LOVD 3.0 shared installation LOVD-team, but with Curator vacancy
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
HPS1 Hermansky-Pudlak syndrome 1 604982 Albinism Database William S. Oetting, Int. Albinism Centre, Univ. of Minnesota, 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
HPRT1 hypoxanthine phosphoribosyltransferase 1 308000 Hypoxanthine Guanine Phosphoribosyltransferase 1; Lech-Nyhan Syndrome Neil Cariello, Univ. Nth Carolina, USA
HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 (H') 300610 HNRNPH2 database at LOVD Jacopo Celli Leiden Univ. Med Centre (acting), Curator vacancy
HNF4A hepatocyte nuclear factor 4, alpha 600281 HNF4A at LOVD Monique Losekoot, LUMC, Leiden, Netherlands
HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 600234 Innsbruck Metabolic Diseases Pages Barbara Lanthaler, Stefanie Kalb and Martina Witsch-Baumgartner
HLA-L major histocompatibility complex, class I, L, 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-J major histocompatibility complex, class I, J (pseudogene) \N 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-G major histocompatibility complex, class I, G 142871 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-E major histocompatibility complex, class I, E 143010 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-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-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-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-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-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-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-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-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-DRA major histocompatibility complex, class II, DR alpha 142860 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-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-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-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-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-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-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-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-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-DOB major histocompatibility complex, class II, DO beta 600629 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-DMB major histocompatibility complex, class II, DM beta 142856 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-C major histocompatibility complex, class I, C 142840 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-A major histocompatibility complex, class I, A 142800 IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
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
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)
CFH complement factor H 134370 CFHbase: Mutation registry for Factor H deficiency (previously known as HF1base) Mauno Vihinen, Univ. of Tampere, Tampere, Finland
HEXB hexosaminidase B (beta polypeptide) 606873 HEXB Locus Database F. Kaplan, Paulo Cordeiro, Manyphong Phommarinh, McGill University, Montreal, Canada
HEXA hexosaminidase A (alpha polypeptide) 606869 Hexosaminidase A; Tay-Sachs Disease Feige Kaplan, Manyphong Phommarinh, McGill Univ., Montreal, Canada
HEPH hephaestin 300167 HEPH database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
HTT huntingtin 613004 Mendelian genes Willeke van Roon-Mom
HCFC1 host cell factor C1 (VP16-accessory protein) 300019 HCFC1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
HCCS holocytochrome c synthase (cytochrome c heme-lyase) 300056 HCCS database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
HBS1L HBS1-like (S. cerevisiae) 612450 HBS1-like (HBS1L) database 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
HBG2 hemoglobin, gamma G 142250 G-gamma globin (HBG2) databse 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
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
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
HBB hemoglobin, beta 141900 Beta globin (HBB) database Belinda Giardine and Joseph Borg
HBA2 hemoglobin, alpha 2 141850 Alpha-2 globin (HBA2) 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
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
HAO2 hydroxyacid oxidase 2 (long chain) 605176 Hydroxyacid oxidase 2 (long chain) (HAO2) database Belinda Giardine and Joseph Borg
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
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
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
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
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
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
GYG2 glycogenin 2 300198 GYG2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GUCY2F guanylate cyclase 2F, retinal 300041 GUCY2F 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
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
GSPT2 G1 to S phase transition 2 300418 GSPT2 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
GRPR gastrin-releasing peptide receptor 305670 GRPR 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
GRIA3 glutamate receptor, ionotrophic, AMPA 3 305915 GRIA3 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
GPR64 G protein-coupled receptor 64 300572 GPR64 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GPR50 G protein-coupled receptor 50 300207 GPR50 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
LPAR4 lysophosphatidic acid receptor 4 300086 LPAR4 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
ZBED1 zinc finger, BED-type containing 1 300178 ZBED1 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
GPC4 glypican 4 300168 GPC4 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
GP9 glycoprotein IX (platelet) 173515 Bernard-Soulier Syndrome database Dermot Kenny, Royal College of Surgeons in Ireland
GP1BB glycoprotein Ib (platelet), beta polypeptide 138720 Bernard-Soulier Syndrome database Dermot Kenny, Royal College of Surgeons in Ireland
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
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 139340 Mutations of the Transducin Subunits Retina International
GNAS GNAS complex locus 139320 LOVD - Leiden Open Variation Database Johan T. den Dunnen
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
ALPL alkaline phosphatase, liver/bone/kidney 171760 Tissue Nonspecific Alkaline Phosphatase Gene Mutation Database Etienne Mornet, Laboratoire SESEP, Universite de Versailles, Versailles, France
GM2A GM2 ganglioside activator 272750 GM2A Locus Database F. Kaplan, Paulo Cordeiro, McGill University, Montreal, Canada
ALOX5AP arachidonate 5-lipoxygenase-activating protein 603700 arachidonate 5-Lipoxygenase-activating protein (ALOX5AP) database Belinda Giardine and Joseph Borg
GLUD2 glutamate dehydrogenase 2 300144 GLUD2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GLRA2 glycine receptor, alpha 2 305990 GLRA2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GLRA1 glycine receptor, alpha 1 138491 GLRA1 database at LOVD Ieke Ginjaar & Vincent Janmaat, LUMC, Leiden, The Netherlands
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
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
GK glycerol kinase 300474 Leiden Muscular Dystrophy pages Johan T. den Dunnen Leiden Univ. Med Centre
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
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
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
GJB3 gap junction protein, beta 3, 31kDa 603324 The Connexin-deafness homepage Ester Ballana, Marina Ventayol, Paolo Gasparini, Xavier Estivill, (CRG) Barcelona Spain
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
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
GJB1 gap junction protein, beta 1, 32kDa 304040 The Connexin-deafness homepage Ester Ballana, Marina Ventayol, Paolo Gasparini, Xavier Estivill, (CRG) Barcelona Spain
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
GJA8 gap junction protein, alpha 8, 50kDa 600897 GJA8 database at LOVD Johan T den Dunnen Leiden Univ. Med Centre
ALMS1 Alstrom syndrome 1 606844 EURO-WABB Project Open Variation Database Dewi Astuti
GJA3 gap junction protein, alpha 3, 46kDa 121015 GJA3 database at LOVD Johan T den Dunnen Leiden Univ. Med Centre
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
GHR growth hormone receptor 600946 LOVD growth LA Metherell and MO Savage
GFI1 growth factor independent 1 transcription repressor 600871 GFI1base: Mutation registry for SCN and NI-CINA Mauno Vihinen, Univ. of Tampere, Tampere, Finland
MSTN myostatin 601788 Leiden Muscular Dystrophy Pages Willem Hoogaars & Johan den Dunnen
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive 303800 Mutations of the Photopigments - Red (RCP), Green (GCP), and Blue Cone Pigment (BCP) Retina International
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
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 603201 CCHMC - Human Genetics Mutation Database Ammar Husami
GCK glucokinase (hexokinase 4) 138079 Monogenic Diabetes Monique Losekoot and Vincent Janmaat
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
GBA glucosidase, beta, acid 606463 CCHMC - Human Genetics Mutation Database Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase) 602360 Guanidinoacetate N-methyltransferase (GAMT) Variation Database Gajja Salomons
ALDOB aldolase B, fructose-bisphosphate 229600 Hereditary Fructose Intolerance/Aldolase Dean R. Tolan, Boston Univ., U.S.A.
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
GAN gigaxonin 605379 Inherited Peripheral Neuropathies Mutation Database Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium
GAMT guanidinoacetate N-methyltransferase 601240 Guanidinoacetate N-methyltransferase (GAMT) Variation Database Gajja Salomons
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.
GALT galactose-1-phosphate uridylyltransferase 606999 Galactosaemia Linda Tyfield, David Carmichael, Inst. Child Health, Univ. Bristol, Bristol, UK
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.
PAGE3 P antigen family, member 3 (prostate associated) 300739 PAGE3 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
GABRE gamma-aminobutyric acid (GABA) A receptor, epsilon 300093 GABRE database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
ALDH5A1 aldehyde dehydrogenase 5 family, member A1 610045 Succinic semialdehyde dehydrogenase (ALDH5A1) Variation Database Gajja Salomons
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
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.
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
G6PD glucose-6-phosphate dehydrogenase 305900 G6PD database at LOVD Mental Retardation database
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.
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.
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
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.
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
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
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
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
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
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
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
FTHL17 ferritin, heavy polypeptide-like 17 300308 FTHL17 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CENPI centromere protein I 300065 CENPI database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
FSCN2 fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) 607643 Mutations of the Fascin Gene Retina International
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
AFF2 AF4/FMR2 family, member 2 309548 AFF2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
FMR1 fragile X mental retardation 1 309550 FMR1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
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
FLNC filamin C, gamma 102565 Leiden Muscular Dystrophy pages Johan T den Dunnen Leiden Univ. Med Centre
FLNA filamin A, alpha 300017 Filamin A, alpha (FLNA) Mental Retardation Database Johan T. den Dunnen Leiden Univ. Med Centre, Leiden, The Netherlands
AKAP4 A kinase (PRKA) anchor protein 4 300185 AKAP4 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
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
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
FHL1 four and a half LIM domains 1 300163 Leiden Muscular Dystrophy Pages Johan T. den Dunnen Leiden Univ.Med Centre, Leiden, The Netherlands
FH fumarate hydratase 136850 TCA Cycle Gene Mutation Database -FH Jean-Pierre Bayley, LUMC, Leiden
FGG fibrinogen gamma chain 134850 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
FGB fibrinogen beta chain 134830 A Database For Human Fibrinogen Variants Michel Hanss, Laboratoire d’hématologie, Hospices Civils de Lyon, France
FGA fibrinogen alpha chain 134820 A Database For Human Fibrinogen Variants Michel Hanss, Laboratoire d’hématologie, Hospices Civils de Lyon, France
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
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
FCGR1A Fc fragment of IgG, high affinity Ia, receptor (CD64) 146760 FCGR1Abase: Mutation registry for CD64 deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
FBN2 fibrillin 2 612570 The UMD FBN2 mutations database G. Collod-Béroud
FBN1 fibrillin 1 134797 The UMD FBN1 mutations database Gwenaelle Collod-Beroud, Laboratoire de génétique Moléculaire et Chromosomique, Montpellier, France
AIRE autoimmune regulator 607358 AIREbase: Mutation registry for APECED Mauno Vihinen, Pärt Peterson, Univ. of Tampere, Finland
AIPL1 aryl hydrocarbon receptor interacting protein-like 1 604392 Mutations of the Aryl Hydrocarbon Receptor-interacting Protein-like 1 Retina International
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
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
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
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
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
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
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
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
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
F9 coagulation factor IX 300746 F9 Mutation Registry at Hemobase Francisco Vidal, Lorena Ramirez
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
F12 coagulation factor XII (Hageman factor) 610619 F12base: Mutation registry for Hereditary angioedema type III Mauno Vihinen, Univ. of Tampere, Tampere, Finland
EZH2 enhancer of zeste homolog 2 (Drosophila) 601573 Mendelian genes (EZH2) LOVD-Team , but with Curator vacancy
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
EXT2 exostoses (multiple) 2 608210 Multiple Osteochondroma Mutation Database Database Administrators
EXT1 exostoses (multiple) 1 608177 Multiple Osteochondroma Mutation Database Database Administrators
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
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
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 601691 Mutations of the ATP-binding Cassette Transporter Retina Retina International
HLA-Y major histocompatibility complex, class I, Y (pseudogene) \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
AGTR2 angiotensin II receptor, type 2 300034 AGTR2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CXorf66 chromosome X open reading frame 66 \N CXorf66 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
NHSL2 NHS-like 2 \N NHSL2 database at LOVD http://www.LOVD.nl/NHSL2
EP300 E1A binding protein p300 602700 EP300 - Rubinstein-Taybi Syndrome (RSTS) Dorien Peters, Clinical Genetics, LUMC, Leiden
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
ENG endoglin 131195 Hereditary Hemorrhagic Telangiectasia (HHT) Mutation Database Pinar Bayrak-Toydemir, University of Utah, ARUP Laboratories
GLOD5 glyoxalase domain containing 5 \N GLOD5 database at LOVD Johan T. 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
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
TMEM114 transmembrane protein 114 611579 TMEM114 database at LOVD Johan T den Dunnen Leiden Univ. Med Centre
ELK1 ELK1, member of ETS oncogene family 311040 ELK1 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
SPANXN4 SPANX family, member N4 300667 SPANXN4 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
SPANXN1 SPANX family, member N1 300664 SPANXN1 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
ELANE elastase, neutrophil expressed 130130 CCHMC - Human Genetics Mutation Database Ammar Husami, Brian Richardson, Edita Freeman, Kerry Shooner, Thedia Jacobs and Theru A. Sivakumaran
ELANE elastase, neutrophil expressed 130130 ELA2base: Mutation registry for Cyclic and congenital neutropenia Mauno Vihinen, Univ. of Tampere, Tampere, Finland
HAUS7 HAUS augmin-like complex, subunit 7 300540 HAUS7 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
AGRN agrin 103320 AGRN - Leiden Muscular Dystrophy pages ddunnen@LUMC.nl, tom.winder@preventiongenetics.com
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
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3 604032 EURO-WABB Project Open Variation Database Dewi Astuti
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
EGFL6 EGF-like-domain, multiple 6 300239 EGFL6 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
EFNB1 ephrin-B1 300035 EFNB1 database at LOVD Johan T. 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
RPS26P11 ribosomal protein S26 pseudogene 11 \N RPS26P11 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
EDNRB endothelin receptor type B 131244 EDNRB 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
EDN3 endothelin 3 131242 EDN3 database at LOVD Veronique Pingault Laboratoire de Biochimie et Génétique, Hopital Henri Mondor Creteil cedex, France
ZCCHC13 zinc finger, CCHC domain containing 13 \N ZCCHC13 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
UBE2NL ubiquitin-conjugating enzyme E2N-like \N UBE2NL 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
MAP3K15 mitogen-activated protein kinase kinase kinase 15 \N MAP3K15 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
EDA ectodysplasin A 300451 EDA database at LOVD Johan T. 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
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
BEX2 brain expressed X-linked 2 300691 BEX2 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
FAM45B family with sequence similarity 45, member B \N FAM45B database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
ALG13 asparagine-linked glycosylation 13 homolog (S. cerevisiae) 300776 ALG13 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
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
FAM155B family with sequence similarity 155, member B \N FAM155B database at LOVD Johan T. den Dunnen 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
GPKOW G patch domain and KOW motifs \N GPKOW database at LOVD Jacopo Celli Leiden Univ. Med Centre (acting), 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
SPSB1 splA/ryanodine receptor domain and SOCS box containing 1 611657 LOVD 3.0 shared installation (SPSB1) LOVD-Team , but with Curator vacancy
DTNA dystrobrevin, alpha 601239 Leiden Muscular Dystrophy Pages Johan T. den Dunnen, Leiden Univ.Med Centre, Leiden, 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
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
WDR44 WD repeat domain 44 \N WDR44 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
FAM122B family with sequence similarity 122B \N FAM122B database at LOVD Johan T. den Dunnen 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
FOXR2 forkhead box R2 \N FOXR2 database at LOVD Jacopo Celli Leiden Univ. Med Centre (acting), Curator vacancy
SAGE1 sarcoma antigen 1 300359 SAGE1 database at LOVD Johan T. 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
RPL9P7 ribosomal protein L9 pseudogene 7 \N RPL9P7 database at LOVD Jacopo Celli and Johan 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
RPA4 replication protein A4, 30kDa 300767 RPA4 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
GPR174 G protein-coupled receptor 174 \N GPR174 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GTPBP6 GTP binding protein 6 (putative) 300124 GTPBP6 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
DPYD dihydropyrimidine dehydrogenase 274270 UMD Locus Specific Databases Jean Christophe Boyer, Nimes, France
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3 605951 Leiden Muscular Dystrophy pages Johan T den Dunnen Leiden Univ. Med Centre
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit 603503 Congenital Disorder of Glycosylation pages Gert Matthijs, Center for Human Genetics, Leuven, Belgium
PIR pirin (iron-binding nuclear protein) 603329 PIR 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
FAM47A family with sequence similarity 47, member A \N FAM47A database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
ISCU iron-sulfur cluster scaffold homolog (E. coli) 611911 Leiden Muscular Dystrophy pages Johan T den Dunnen Leiden Univ. Med Centre
NKAP NFKB activating protein 300766 NKAP database at LOVD Jacopo Celli and Johan 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
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
TCEAL2 transcription elongation factor A (SII)-like 2 \N TCEAL2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta 602900 DNMT3Bbase: Mutation registry for ICF syndrome Mauno Vihinen, Univ. of Tampere, Tampere, Finland
DNM2 dynamin 2 602378 Leiden Muscular Dystrophy pages Johan T den Dunnen Leiden Univ. Med Centre
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
MLPH melanophilin 606526 MLPHbase: Mutation registry for Griscelli syndrome, type 3 (GS3) Mauno Vihinen, Univ. of Tampere, Tampere, Finland
IRGM immunity-related GTPase family, M 608212 Mendelian genes (IRGM) LOVD-Team , but with Curator vacancy
DNASE1L1 deoxyribonuclease I-like 1 300081 DNASE1L1 database at LOVD Johan T. 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
KIAA2022 KIAA2022 300524 KIAA2022 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RGAG4 retrotransposon gag domain containing 4 \N RGAG4 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
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
FRMPD3 FERM and PDZ domain containing 3 \N FRMPD3 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
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
KLHL15 kelch-like 15 (Drosophila) \N KLHL15 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
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
DMD dystrophin 300377 Leiden Muscular Dystrophy Pages Johan T. den Dunnen, Leiden Univ.Med Centre, Leiden, The Netherlands
RGAG1 retrotransposon gag domain containing 1 \N RGAG1 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
SHROOM4 shroom family member 4 300579 SHROOM4 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
PDS5A PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) 613200 PDS5A database at LOVD Johan T den Dunnen Leiden Univ. Med Centre
IQSEC2 IQ motif and Sec7 domain 2 300522 IQSEC2 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
DLG3 discs, large homolog 3 (Drosophila) 300189 DLG3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), 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
IQCB1 IQ motif containing B1 609237 Leiden Open Variation Database (IQCB1) LOVD-Team , but with Curator vacancy
CCDC120 coiled-coil domain containing 120 \N CCDC120 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
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
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
DKC1 dyskeratosis congenita 1, dyskerin 300126 DKC1 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAGT1 magnesium transporter 1 300715 MAGT1 database at LOVD Jacopo Celli and Johan 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
ZNF630 zinc finger protein 630 \N ZNF630 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
DIAPH2 diaphanous homolog 2 (Drosophila) 300108 DIAPH2 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
FUNDC1 FUN14 domain containing 1 \N FUNDC1 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
TCEAL8 transcription elongation factor A (SII)-like 8 \N TCEAL8 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
ARMCX4 armadillo repeat containing, X-linked 4 \N ARMCX4 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
CXorf38 chromosome X open reading frame 38 \N CXorf38 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
CXorf22 chromosome X open reading frame 22 \N CXorf22 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
BEND2 BEN domain containing 2 \N BEND2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
TMEM43 transmembrane protein 43 612048 ARVD/C Genetic Variants Database Paul van der Zwaag
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
CT45A2 cancer/testis antigen family 45, member A2 300793 CT45A2 database at LOVD Johan T. 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
MOSPD2 motile sperm domain containing 2 \N MOSPD2 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
D2HGDH D-2-hydroxyglutarate dehydrogenase 609186 D2HGDH database at LOVD Gajja Salomons
UPRT uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) 300656 UPRT database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PNMA6A paraneoplastic antigen like 6A \N PNMA6A 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
SATL1 spermidine/spermine N1-acetyl transferase-like 1 \N SATL1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
CFD complement factor D (adipsin) 134350 CFDbase: Mutation registry for Factor D deficiency (previously known as DFbase) Mauno Vihinen, Univ. of Tampere, Tampere, Finland
DES desmin 125660 Leiden Muscular Dystrophy Pages Johan den Dunnen, LUMC, Leiden, Nederland
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
CXorf23 chromosome X open reading frame 23 \N CXorf23 database at LOVD Johan T. 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
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
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
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
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
H2BFWT H2B histone family, member W, testis-specific 300507 H2BFWT database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
ESCO2 establishment of cohesion 1 homolog 2 (S. cerevisiae) 609353 ESCO2 database at LOVD Birgitt Schuele, USA
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
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
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
FAM123B family with sequence similarity 123B 300647 FAM123B 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
CXorf59 chromosome X open reading frame 59 \N CXorf59 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
FAM47B family with sequence similarity 47, member B \N FAM47B database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
BBS12 Bardet-Biedl syndrome 12 610683 EURO-WABB Project Open Variation Database Dewi Astuti
DOK7 docking protein 7 610285 DOK7 - Leiden Muscular Dystrophy pages Tom Winder
MUM1L1 melanoma associated antigen (mutated) 1-like 1 \N MUM1L1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase 610453 LOVD - Leiden Open Variation Database Stéphanie Durand
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
FAAH2 fatty acid amide hydrolase 2 300654 FAAH2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
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
HDX highly divergent homeobox \N \N http://www.LOVD.nl/HAUS7 Jacopo Celli Leiden Univ. Med Centre
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
PTCHD1 patched domain containing 1 \N PTCHD1 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
FMR1NB fragile X mental retardation 1 neighbor \N FMR1NB database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
ZNF645 zinc finger protein 645 \N ZNF645 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
CXorf58 chromosome X open reading frame 58 \N CXorf58 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
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
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
BBS10 Bardet-Biedl syndrome 10 610148 EURO-WABB Project Open Variation Database Dewi Astuti
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
CXorf56 chromosome X open reading frame 56 \N CXorf56 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
EFHC2 EF-hand domain (C-terminal) containing 2 \N EFHC2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
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
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
MTMR14 myotubularin related protein 14 611089 Leiden Muscular Dystrophy pages Johan T den Dunnen Leiden Univ. Med Centre
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
PALB2 partner and localizer of BRCA2 610355 Fanconi Anaemia Mutation Database Arleen Auerbach, Rockefeller University, New York, USA
TCEAL4 transcription elongation factor A (SII)-like 4 \N TCEAL4 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
ARMCX6 armadillo repeat containing, X-linked 6 \N ARMCX6 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 606530 Cerebrotendinous Xanthomatosis Jorge Amigo Lechuga and María Jesús Sobrido
GEMIN8 gem (nuclear organelle) associated protein 8 \N GEMIN8 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
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
ZNF673 zinc finger family member 673 300585 ZNF673 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
GDPD2 glycerophosphodiester phosphodiesterase domain containing 2 \N GDPD2 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
NUP62CL nucleoporin 62kDa C-terminal like \N NUP62CL 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
ZNF280C zinc finger protein 280C \N ZNF280C database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
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
MAP7D2 MAP7 domain containing 2 \N MAP7D2 database at LOVD Johan T. 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
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
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
ARMCX5 armadillo repeat containing, X-linked 5 \N ARMCX5 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
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
MAP7D3 MAP7 domain containing 3 \N MAP7D3 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
LAS1L LAS1-like (S. cerevisiae) \N LAS1L 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
OFD1 oral-facial-digital syndrome 1 300170 OFD1 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
BCORL1 BCL6 co-repressor-like 1 300688 BCORL1 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
RBM41 RNA binding motif protein 41 \N RBM41 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
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
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
CUL4B cullin 4B 300304 CUL4B database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TMEM38B transmembrane protein 38B 611236 Osteogenesis Imperfecta Variant Database (TMEM38B) Raymond Dalgleish
WRAP53 WD repeat containing, antisense to TP53 612661 The Telomerase Database Julian J-L Chen at Arizona State University
CXorf57 chromosome X open reading frame 57 \N CXorf57 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
RAB40AL RAB40A, member RAS oncogene family-like 300405 RAB40AL database at LOVD Johan T. 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
MAGEB10 melanoma antigen family B, 10 300761 MAGEB10 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CTSK cathepsin K 601105 Cathepsin K Mutations DataBase Xiaohong Duan, Yang Xue
FAM47C family with sequence similarity 47, member C \N FAM47C database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CTSC cathepsin C 602365 CTSCbase: Mutation registry for Papillon-Lefevre syndrome Mauno Vihinen, Univ. of Tampere, Tampere, Finland
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
FAM122C family with sequence similarity 122C \N FAM122C 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
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
RIPPLY1 ripply1 homolog (zebrafish) 300575 RIPPLY1 database at LOVD Jacopo Celli and Johan 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
LUZP4 leucine zipper protein 4 300616 LUZP4 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
MAGEE1 melanoma antigen family E, 1 300759 MAGEE1 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
CTAG2 cancer/testis antigen 2 300396 CTAG2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PNPLA4 patatin-like phospholipase domain containing 4 300102 PNPLA4 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
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
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
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
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
FATE1 fetal and adult testis expressed 1 300450 FATE1 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
TFDP3 transcription factor Dp family, member 3 300772 TFDP3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CSNK2A1 casein kinase 2, alpha 1 polypeptide 115440 Casein kinase 2, alpha 1 polypeptide (CSNK2A1) database Belinda Giardine and Joseph Borg
KANSL1 KAT8 regulatory NSL complex subunit 1 612452 LOVD - Leiden Open Variation Database (KANSL1) Giuseppe Marangi
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
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 609831 Zhejiang University Center for Genetic and Genomic Medicine - MMACHC Ming Qi, PhD, FACMG
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 608429 Ehlers-Danlos Syndrome Variant Database (CHST14) Raymond Dalgleish
TSPYL2 TSPY-like 2 300564 TSPYL2 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
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
CSAG1 chondrosarcoma associated gene 1 \N CSAG1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CISD2 CDGSH iron sulfur domain 2 611507 EURO-WABB Project Open Variation Database Dewi Astuti
CRYM crystallin, mu 123740 CRYM database at LOVD Johan T den Dunnen Leiden Univ. Med Centre
ATXN3L ataxin 3-like \N ATXN3L database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
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
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
MAGEH1 melanoma antigen family H, 1 300548 MAGEH1 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
AKAP14 A kinase (PRKA) anchor protein 14 300462 AKAP14 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
APOOL apolipoprotein O-like \N APOOL database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
HTR3E 5-hydroxytryptamine (serotonin) receptor 3E, ionotropic 610123 HTR3E 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
HTR3C 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 610121 HTR3C database at Heidelberg University Dr. Beate Niesler, Heidelberg University
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
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
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
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
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
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
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
CRX cone-rod homeobox 602225 Mutations of the Cone Rod Homeobox Gene Retina International
MAGEC3 melanoma antigen family C, 3 300469 MAGEC3 database at LOVD Johan T. 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
MAGEB5 melanoma antigen family B, 5 300466 MAGEB5 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.
MED14 mediator complex subunit 14 300182 MED14 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
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
MORC4 MORC family CW-type zinc finger 4 \N MORC4 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
HLA-V major histocompatibility complex, class I, V (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-T major histocompatibility complex, class I, T (pseudogene) \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
HLA-U major histocompatibility complex, class I, U (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-W major histocompatibility complex, class I, W (pseudogene) \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
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
CPXCR1 CPX chromosome region, candidate 1 \N CPXCR1 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
AWAT2 acyl-CoA wax alcohol acyltransferase 2 \N AWAT2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CPS1 carbamoyl-phosphate synthetase 1, mitochondrial 608307 CPS1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
FANCM Fanconi anemia, complementation group M 609644 Fanconi Anaemia Mutation Database Arleen Auerbach, Rockefeller University, New York, USA
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
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
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
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
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
UNC13D unc-13 homolog D (C. elegans) 608897 UNC13Dbase: Mutation registry for Familial hemophagocytic lymphohistiocytosis 3 Mauno Vihinen, Univ. of Tampere, Tampere, Finland
UNC13D unc-13 homolog D (C. elegans) 608897 CCHMC - Human Genetics Mutation Database Ammar Husami and Theru A. Sivakumaran
SLC29A3 solute carrier family 29 (nucleoside transporters), member 3 612373 SLC29A3 database at LOVD Dr Neil Morgan and Dr. Derek Lim
USP51 ubiquitin specific peptidase 51 \N USP51 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
LMBRD1 LMBR1 domain containing 1 612625 Zhejiang University Center for Genetic and Genomic Medicine - LMBRD1 Ming Qi, PhD, FACMG, Peikuan Cong and Yanling Chen
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
ZCCHC5 zinc finger, CCHC domain containing 5 \N ZCCHC5 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
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
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.
NLRP7 NLR family, pyrin domain containing 7 609661 INFEVERS: The repertory of RMHs sequence variants Rima Slim, Montreal General Hospital Research Institute, Montreal, Canada
KLHL13 kelch-like 13 (Drosophila) 300655 KLHL13 database at LOVD Jacopo Celli and Johan 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
TCEAL5 transcription elongation factor A (SII)-like 5 \N TCEAL5 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
COL7A1 collagen, type VII, alpha 1 120120 Medical Genetics Department Institute of Mother and Child Prof. Cezary Kowalewski, Katarzyna Wertheim-Tysarowska,
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
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
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
COL5A2 collagen, type V, alpha 2 120190 Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants Raymond Dalgleish, Leicester, U.K.
COL5A1 collagen, type V, alpha 1 120215 Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants Raymond Dalgleish, Leicester, U.K.
VMA21 VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) 310440 Leiden Muscular Dystrophy pages Johan T den Dunnen Leiden Univ. Med Centre
COL4A6 collagen, type IV, alpha 6 303631 Collagen, type IV, alpha 6 (COL4A6) Mental Retardation Database Judy Savige
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
COL3A1 collagen, type III, alpha 1 120180 The UMD COL3A1 mutations database P. Khau van Kien
COL3A1 collagen, type III, alpha 1 120180 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
COL1A2 collagen, type I, alpha 2 120160 Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants Raymond Dalgleish, Leicester, U.K.
COL1A1 collagen, type I, alpha 1 120150 Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants Raymond Dalgleish, Leicester, U.K.
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
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
PGAM4 phosphoglycerate mutase family member 4 300567 PGAM4 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CNTN1 contactin 1 600016 CNTN1 - Leiden Muscular Dystrophy pages Johan T den Dunnen Leiden Univ. Med Centre
CNGA3 cyclic nucleotide gated channel alpha 3 600053 Mutations of the Cone 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
CNGA1 cyclic nucleotide gated channel alpha 1 123825 Mutations of the Cyclic Nucleotide-gated Cation Channel Retina International
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
HLA-P major histocompatibility complex, class I, P (pseudogene) \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
RNF135 ring finger protein 135 611358 RNF135 at LOVD Monique Losekoot, LUMC, Leiden, Netherlands
RNF128 ring finger protein 128 300439 RNF128 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
ZNF449 zinc finger protein 449 300627 ZNF449 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
VGLL1 vestigial like 1 (Drosophila) 300583 VGLL1 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
BCOR BCL6 co-repressor 300485 BCOR database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
THAP1 THAP domain containing, apoptosis associated protein 1 609520 The UMD THAP1 mutations database Gwenaelle Collod-Beroud
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
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
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
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
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
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
SPIN2A spindlin family, member 2A 300621 SPIN2A 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
PHF8 PHD finger protein 8 300560 PHF8 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CLIC2 chloride intracellular channel 2 300138 CLIC2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
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
MBNL3 muscleblind-like 3 (Drosophila) 300413 MBNL3 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
DUSP21 dual specificity phosphatase 21 300678 DUSP21 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TMC8 transmembrane channel-like 8 605829 TMC8base: Mutation registry for Epidermodysplasia verruciformis (previously known as EVER2base) Mauno Vihinen, Univ. of Tampere, Tampere, Finland
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
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
PDS5B PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 605333 PDS5B database at LOVD Johan T den Dunnen Leiden Univ. Med Centre
CLDN2 claudin 2 300520 CLDN2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
CLCN7 chloride channel 7 602727 CLCN7base: Mutation registry for Autosomal dominant osteopetrosis, type 2 Mauno Vihinen, Univ. of Tampere, Tampere, Finland
SPRED1 sprouty-related, EVH1 domain containing 1 609291 Legius Syndrome and SPRED1 Gene Database Kelli Sumner, University of Utah, ARUP Laboratories
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
CLCN5 chloride channel 5 300008 CLCN5 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CLCN4 chloride channel, voltage-sensitive 4 302910 CLCN4 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
B3GALTL beta 1,3-galactosyltransferase-like 610308 B3GALTL - Peters' Plus syndrome at LOVD Janneke Weiss, LUMC, Leiden, Nederland
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
CLCN1 chloride channel 1, skeletal muscle 118425 CLCN1 - Chloride channel 1, skeletal muscle Ieke Ginjaar and Vincent Janmaat, Clinical Genetics, LUMC, Leiden
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
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
PCSK9 proprotein convertase subtilisin/kexin type 9 607786 Hypercholesterolemia, Familial Sarah Leigh
P2RY10 purinergic receptor P2Y, G-protein coupled, 10 300529 P2RY10 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
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
ASB12 ankyrin repeat and SOCS box-containing 12 \N ASB12 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
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
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
CHRNG cholinergic receptor, nicotinic, gamma 100730 Cholinergic receptor, nicotinic, gamma polypeptide (CHRNG) variation database Dr Julie Vogt and Dr Derek Lim
SSX6 synovial sarcoma, X breakpoint 6 (pseudogene) 300541 SSX6 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
SBDS Shwachman-Bodian-Diamond syndrome 607444 SBDSbase: Mutation registry for Shwachman-Diamond syndrome László Maródi and Mauno Vihinen, Univ. of Tampere, Tampere, Finland
HLA-N major histocompatibility complex, class I, N (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-S major histocompatibility complex, class I, S (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-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-X major histocompatibility complex, class I, X (pseudogene) \N IMGT/HLA Database SGE Marsh, Anthony Nolan Research Institute, Royal Free Hospital, London, UK
NKRF NFKB repressing factor 300440 NKRF database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
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
LEPRE1 leucine proline-enriched proteoglycan (leprecan) 1 610339 Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants Raymond Dalgleish, Leicester, U.K.
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
POMGNT1 protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 606822 Leiden Muscular Dystrophy pages Rosário dos Santos & Johan den Dunnen
HS6ST2 heparan sulfate 6-O-sulfotransferase 2 300545 HS6ST2 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
GPR119 G protein-coupled receptor 119 300513 GPR119 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
GPR112 G protein-coupled receptor 112 \N GPR112 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TOX thymocyte selection-associated high mobility group box 606863 Thymocyte selection-associated high mobility group box (TOX) database Belinda Giardine and Joseph Borg
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
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
HPS6 Hermansky-Pudlak syndrome 6 607522 Hermansky-Pudlak syndrome 6 (HPS6) LOVD-team, but with Curator vacancy and William (Bill) Oetting
FAM50A family with sequence similarity 50, member A 300453 FAM50A database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
AKAP17A A kinase (PRKA) anchor protein 17A 465000 X-Chromosome gene database - SFRS17A Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
BBS7 Bardet-Biedl syndrome 7 607590 EURO-WABB Project Open Variation Database Dewi Astuti
BBS7 Bardet-Biedl syndrome 7 607590 Mutations of the Bardet-Biedl Syndrome Type 7 Gene (BBS2L1) Retina International
CFL2 cofilin 2 (muscle) 601443 Leiden Muscular Dystrophy pages Johan T. den Dunnen Leiden Univ. Med Centre
PNMA5 paraneoplastic antigen like 5 \N PNMA5 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
CCNB3 cyclin B3 300456 CCNB3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GRIPAP1 GRIP1 associated protein 1 300408 GRIPAP1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
LDLRAP1 low density lipoprotein receptor adaptor protein 1 605747 Leiden Muscular Dystrophy pages Sarah Leigh
LRRK2 leucine-rich repeat kinase 2 609007 LRRK2 Parkinson's disease Mutation Database The Parkinson's Institute
ADA adenosine deaminase 608958 ADAbase: Mutation registry for Adenosine Deaminase Deficiency Mauno Vihinen, Michael Hershfield, Univ. of Tampere, Finland
TXLNG taxilin gamma 300677 CXorf15 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
CXorf27 chromosome X open reading frame 27 \N CXorf27 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
FAM9A family with sequence similarity 9, member A 300477 FAM9A database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
HPSE2 heparanase 2 613469 heparanase 2 (HPSE2) LOVD-Team, but with (acting), Curator vacancy
IMPG2 interphotoreceptor matrix proteoglycan 2 607056 Eye diseases - LOVD Jacopo Celli
CEBPE CCAAT/enhancer binding protein (C/EBP), epsilon 600749 CEBPEbase: Mutation registry for Neutrophil-specific granule deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
ASXL1 additional sex combs like 1 (Drosophila) 612990 LOVD - Leiden Open Variation Database (ASXL1) Helger Yntema
TMLHE trimethyllysine hydroxylase, epsilon 300777 TMLHE database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2 300556 ATP6AP2 database at LOVD Johan T. 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
RAB41 RAB41, member RAS oncogene family \N RAB41 database at LOVD Jacopo Celli and Johan 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
CD99L2 CD99 molecule-like 2 \N CD99L2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GPR173 G protein-coupled receptor 173 300253 GPR173 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
FKBP10 FK506 binding protein 10, 65 kDa 607063 Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants Raymond Dalgleish, Leicester, UK.
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B 604907 TNFRSF13Bbase: Mutation registry for TACI deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
ARMCX1 armadillo repeat containing, X-linked 1 300362 ARMCX1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
SLC38A5 solute carrier family 38, member 5 300649 SLC38A5 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TMC6 transmembrane channel-like 6 605828 TMC6base: Mutation registry for Epidermodysplasia verruciformis (previously known as EVER1base) Mauno Vihinen, Univ. of Tampere, Tampere, Finland
NUP133 nucleoporin 133kDa 607613 Nucleoporin 133kDa (NUP133) database Belinda Giardine and Joseph Borg
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
NAGS N-acetylglutamate synthase 608300 NAGS database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CDR1 cerebellar degeneration-related protein 1, 34kDa 302650 CDR1 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
APEX2 APEX nuclease (apurinic/apyrimidinic endonuclease) 2 300773 APEX2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
INVS inversin 243305 LOVD 3.0 database (INVS) LOVD-team, but with 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
AMOT angiomotin 300410 AMOT 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
EDA2R ectodysplasin A2 receptor 300276 EDA2R database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PORCN porcupine homolog (Drosophila) 300651 PORCN at LOVD M.P. Lombardi and R.C.M. Hennekam, Academic Medical Center, University of Amsterdam
DCLRE1C DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae) 605988 DCLRE1Cbase: Mutation registry for Artemis deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
CDH3 cadherin 3, type 1, P-cadherin (placental) 114021 Mutations of the P-Cadherin Gene Retina International
KAT6B K(lysine) acetyltransferase 6B 605880 Baylor College of Medicine (KAT6B) Philippe Campeau
GAB3 GRB2-associated binding protein 3 300482 GAB3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
ACVRL1 activin A receptor type II-like 1 601284 Hereditary Hemorrhagic Telangiectasia (HHT) Mutation Database Pinar Bayrak-Toydemir, University of Utah, ARUP Laboratories
CDH1 cadherin 1, type 1, E-cadherin (epithelial) 192090 Colon cancer gene variant databases - CDH1 Florentia Fostira
CYSLTR1 cysteinyl leukotriene receptor 1 300201 CYSLTR1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
GPR98 G protein-coupled receptor 98 602851 Retinal and hearing impairment genetic mutation database David Baux, Inserm
GPR98 G protein-coupled receptor 98 602851 CCHMC - Human Genetics Mutation Database Ammar Husami and Theru A. Sivakumaran
ZC3H12B zinc finger CCCH-type containing 12B \N ZC3H12B database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
BRWD3 bromodomain and WD repeat domain containing 3 300553 BRWD3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PRPF8 PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) 607300 Mutations of the Precursor mRNA Processing Protein 8 Retina International
SP7 Sp7 transcription factor 606633 Osteogenesis Imperfecta Variant Database Raymond Dalgleish
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
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
ASB11 ankyrin repeat and SOCS box-containing 11 300626 ASB11 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
PRDX4 peroxiredoxin 4 606506 PRDX4 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
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
SYNE1 spectrin repeat containing, nuclear envelope 1 608441 Leiden Muscular Dystrophy pages Johan T. den Dunnen Leiden Univ. Med Centre
SYNE2 spectrin repeat containing, nuclear envelope 2 608442 Leiden Muscular Dystrophy pages Johan T. den Dunnen Leiden Univ. Med Centre
BMP2KL BMP2 inducible kinase-like \N BMP2KL 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
VSIG4 V-set and immunoglobulin domain containing 4 300353 VSIG4 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
HPS5 Hermansky-Pudlak syndrome 5 607521 Hermansky-Pudlak syndrome 5 (HPS5) LOVD-team, but with Curator vacancy and William (Bill) Oetting
CD79A CD79a molecule, immunoglobulin-associated alpha 112205 CD79Abase: Mutation registry for Igα deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
FAM120C family with sequence similarity 120C 300741 FAM120C database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
CD59 CD59 molecule, complement regulatory protein 107271 CD59base: Mutation registry for CD59 deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
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
ARMCX2 armadillo repeat containing, X-linked 2 300363 ARMCX2 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
MTMR8 myotubularin related protein 8 \N MTMR8 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
DACH2 dachshund homolog 2 (Drosophila) 300608 DACH2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CD247 CD247 molecule 186780 CD247base: Mutation registry for Autosomal recessive CD3Zeta deficiency Mauno Vihinen, 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
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
MCEE methylmalonyl CoA epimerase 608419 Zhejiang University Center for Genetic and Genomic Medicine - MCEE Ming Qi, PhD, FACMG, Peikuan Cong and Yanling Chen
CD3D CD3d molecule, delta (CD3-TCR complex) 186790 CD3Dbase: Mutation registry for Autosomal recessive CD3delta deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
ZBTB33 zinc finger and BTB domain containing 33 300329 ZBTB33 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
PJA1 praja ring finger 1 300420 PJA1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
IFITM5 interferon induced transmembrane protein 5 614757 Osteogenesis Imperfecta Variant Database (IFITM5) Raymond Dalgleish
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
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
RAB39B RAB39B, member RAS oncogene family 300774 RAB39B database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
SLC4A11 solute carrier family 4, sodium borate transporter, member 11 610206 SLC4A11 at Mendelian Genes Dr. Joseph Casey, University of Alberta
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
TRIM32 tripartite motif-containing 32 602290 Leiden Muscular Dystrophy Pages Johan T. den Dunnen, Leiden Univ. Medical Centre, Leiden, The Netherlands
PARK7 Parkinson disease (autosomal recessive, early onset) 7 602533 PARK7 Parkinson's disease Mutation Database The Parkinson's Institute
DFNB31 deafness, autosomal recessive 31 607928 Retinal and hearing impairment genetic mutation database WHRN David Baux
DFNB31 deafness, autosomal recessive 31 607928 CCHMC - Human Genetics Mutation Database Ammar Husami and Theru A. Sivakumaran
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
MAGED2 melanoma antigen family D, 2 300470 MAGED2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
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
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
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
CD19 CD19 molecule 107265 CD19base: Mutation registry for CD19 deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
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
SYAP1 synapse associated protein 1, SAP47 homolog (Drosophila) \N SYAP1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
CHMP4B chromatin modifying protein 4B 610897 CHMP4B database at LOVD Johan T den Dunnen Leiden Univ. Med Centre
PGRMC1 progesterone receptor membrane component 1 300435 PGRMC1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PCNT pericentrin 605925 Mental Retardation database - pericentrin (PCNT) Johan T den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
SEPN1 selenoprotein N, 1 606210 Leiden Muscular Dystrophy Pages Johan den Dunnen, Tom Winder
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
SASH3 SAM and SH3 domain containing 3 300441 SASH3 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
SEPT6 septin 6 300683 SEPT6 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
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
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
LDB3 LIM domain binding 3 605906 LDB3 - Leiden Muscular Dystrophy pages Johan den Dunnen and Montse Olivé
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
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
TLR8 toll-like receptor 8 300366 TLR8 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TLR7 toll-like receptor 7 300365 TLR7 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
HPS3 Hermansky-Pudlak syndrome 3 606118 Mutations of the HPS3 Gene Retina International
SYTL5 synaptotagmin-like 5 \N SYTL5 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
P2RY8 purinergic receptor P2Y, G-protein coupled, 8 300525 P2RY8 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CBS cystathionine-beta-synthase 236200 Cystathionine beta-synthase database Jan P. Kraus Univ. of Colorado Denver, U.S.A.
SPINK5 serine peptidase inhibitor, Kazal type 5 605010 SPINK5base: Mutation registry for Netherton syndrome Mauno Vihinen, Univ. of Tampere, Tampere, Finland
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.
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
PRPF31 PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) 606419 Mutations of the RNA Processing Factor 31 Retina International
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
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
CASP8 caspase 8, apoptosis-related cysteine peptidase 601763 CASP8base: Mutation registry for Caspase 8 deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
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
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
GPR101 G protein-coupled receptor 101 300393 GPR101 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
ESX1 ESX homeobox 1 300154 ESX1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CAPN6 calpain 6 300146 CAPN6 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CAPN3 calpain 3, (p94) 114240 Calpain-3; Limb-Girdle Muscular Dystrophy, type 2A Johan T. den Dunnen Leiden Univ. Med Centre,Leiden, The Netherlands
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
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
ABCA13 ATP-binding cassette, sub-family A (ABC1), member 13 607807 LOVD - Leiden Open Variation Database Johan T. den Dunnen and Ben Pickard
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
PINK1 PTEN induced putative kinase 1 608309 PINK1 Parkinson's disease Mutation Database The Parkinson's Institute
WNK3 WNK lysine deficient protein kinase 3 300358 WNK3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
GABRQ gamma-aminobutyric acid (GABA) receptor, theta 300349 GABRQ database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
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
NOP10 NOP10 ribonucleoprotein homolog (yeast) 606471 The Telomerase Database Julian J-L Chen at Arizona State University
NHP2 NHP2 ribonucleoprotein homolog (yeast) 606470 The Telomerase Database Julian J-L Chen at Arizona State University
IRX5 iroquois homeobox 5 606195 LOVD - Leiden Open Variation Database (IRX5) LOVD-Team , but with Curator vacancy
WDR13 WD repeat domain 13 300512 WDR13 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
HTRA2 HtrA serine peptidase 2 606441 PD Mutation Database Tokyo Univ. Hosp., Tokyo Univ., and Hitachi Ltd.
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.
NLGN3 neuroligin 3 300336 NLGN3 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
PCDH19 protocadherin 19 300460 PCDH19 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
NSD1 nuclear receptor binding SET domain protein 1 606681 NSD1 at LOVD Janneke Weiss, LUMC, Leiden, Netherlands
BLNK B-cell linker 604515 BLNKbase: Mutation registry for BLNK deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
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
RAB9B RAB9B, member RAS oncogene family 300285 RAB9B 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
HDAC6 histone deacetylase 6 300272 HDAC6 database at LOVD Johan T. 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
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
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit 300110 Mutations of the L-type Calcium-Channel Gene Retina International
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
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
SH3KBP1 SH3-domain kinase binding protein 1 300374 SH3KBP1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CNTNAP2 contactin associated protein-like 2 604569 Contactin associated protein-like 2 (CNTNAP2) database Belinda Giardine and Joseph Borg
PRX periaxin 605725 Inherited Peripheral Neuropathies Mutation Database Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium
CA5B carbonic anhydrase VB, mitochondrial 300230 CA5B 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
FAM3A family with sequence similarity 3, member A 300492 FAM3A database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
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
CA2 carbonic anhydrase II 611492 CA2base: Mutation registry for Osteopetrosis with renal tubular acidosis Mauno Vihinen, Univ. of Tampere, Tampere, Finland
POF1B premature ovarian failure, 1B 300603 POF1B 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
PABPC5 poly(A) binding protein, cytoplasmic 5 300407 PABPC5 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
MAGEC2 melanoma antigen family C, 2 300468 MAGEC2 database at LOVD 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
IFT122 intraflagellar transport 122 homolog (Chlamydomonas) 606045 Mendelian genes (IFT122) Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
ATP11C ATPase, class VI, type 11C 300516 ATP11C 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
USP26 ubiquitin specific peptidase 26 300309 USP26 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
SLITRK2 SLIT and NTRK-like family, member 2 300561 SLITRK2 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
RLIM ring finger protein, LIM domain interacting 300379 RLIM 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
NSDHL NAD(P) dependent steroid dehydrogenase-like 300275 NSDHL 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
KIF4A kinesin family member 4A 300521 KIF4A database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
HDAC8 histone deacetylase 8 300269 HDAC8 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
FTSJ1 FtsJ homolog 1 (E. coli) 300499 FTSJ1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) 606557 B-cell CLL/lymphoma 11A (BCL11A) database Belinda Giardine and Joseph Borg
ARL6 ADP-ribosylation factor-like 6 608845 EURO-WABB Open Variation Database Dewi Astuti
AICDA activation-induced cytidine deaminase 605257 AICDA base: Mutation registry for Aid deficiency Anne Durandy, Mauno Vihinen, Univ. of 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
C3 complement component 3 120700 C3base: Mutation registry for C3 deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
ZNF81 zinc finger protein 81 314998 ZNF81 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
ZNF711 zinc finger protein 711 314990 ZNF711 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
ZMYM3 zinc finger, MYM-type 3 300061 ZMYM3 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
ZNF185 zinc finger protein 185 (LIM domain) 300381 ZNF185 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RNF113A ring finger protein 113A \N RNF113A database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
ACTA1 actin, alpha 1, skeletal muscle 102610 Laing Laboratory Skeletal muscle alpha-actin (ACTA1) Nigel Laing and Kristen Nowak
ACTA1 actin, alpha 1, skeletal muscle 102610 Leiden Muscular Dystrophy pages Kristen Nowak and Nigel Laing
ZMPSTE24 zinc metallopeptidase (STE24 homolog, S. cerevisiae) 606480 Leiden Muscular Dystrophy Pages Johan T. den Dunnen, Leiden Univ.Med Centre, Leiden, The Netherlands
ZFX zinc finger protein, X-linked 314980 ZFX 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
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
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
XG Xg blood group 314700 XG database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
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
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
WFS1 Wolfram syndrome 1 (wolframin) 606201 EURO-WABB Project Open Variation Database Dewi Astuti
WAS Wiskott-Aldrich syndrome (eczema-thrombocytopenia) 300392 WASbase: Mutation registry for Wiskott-Aldrich syndrome (WAS) Mauno Vihinen, Univ. of Tampere, Tampere, Finland
WAS Wiskott-Aldrich syndrome (eczema-thrombocytopenia) 300392 CCHMC - Human Genetics Mutation Database Ammar Husami and Theru A. Sivakumaran
VWF von Willebrand factor 193400 VWF Mutation Registry at Hemobase Francisco Vidal, Irene Corrales
VWF von Willebrand factor 193400 Von Willebrand Factor Database Dan Hampshire, The University of Sheffield, Sheffield, UK
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
VIM vimentin 193060 VIM database at LOVD Johan T den Dunnen Leiden Univ. Med Centre
VHL von Hippel-Lindau tumor suppressor 608537 The UMD VHL mutations database Christophe Beroud, Laboratoire de génétique Moléculaire et Chromosomique, Montpellier, France
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
VBP1 von Hippel-Lindau binding protein 1 300133 VBP1 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
USP9X ubiquitin specific peptidase 9, X-linked 300072 USP9X database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
USP11 ubiquitin specific peptidase 11 300050 USP11 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
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
USH2A Usher syndrome 2A (autosomal recessive, mild) 608400 **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database Ammar Husami and Theru A. Sivakumaran
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
USH1C Usher syndrome 1C (autosomal recessive, severe) 605242 Mutations of the Harmonin Gene Retina International
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
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
UNC119 unc-119 homolog (C. elegans) 604011 Mutations of HRG4 Retina International
UBQLN2 ubiquilin 2 300264 UBQLN2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
UBE3A ubiquitin protein ligase E3A 601623 NGRL, Manchester LOVD Bharathi Kattamuri and Simon Ramsden
C2 complement component 2 217000 C2base: Mutation registry for C2 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
C1S complement component 1, s subcomponent 120580 C1Sbase: Mutation registry for C1s deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
UBA1 ubiquitin-like modifier activating enzyme 1 314370 UBA1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TYRP1 tyrosinase-related protein 1 115501 Albinism Database William S. Oetting, Int. Albinism Centre, Univ. of Minnesota, U.S.A.
TYRP1 tyrosinase-related protein 1 115501 Mutations of the Tyrosinase-related Protein 1 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
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
TYK2 tyrosine kinase 2 176941 TYK2base: Mutation registry for TYK2 deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
TULP1 tubby like protein 1 602280 Mutations of the Tubby-like Protein 1 Gene Retina International
C1QB complement component 1, q subcomponent, B chain 120570 C1QBbase: Mutation registry for C1qB deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
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
TTR transthyretin 176300 Database on Transthyretin Mutations Maria João Mascarenhas Saraiva, Amyloid Unit, Institute of Molecular & Cellular Biology, Porto, Portugal
TTN titin 188840 FHC Mutation Database Bing Yu, Ronald J. Trent, Dept. Mol & Clin Genet., Royal Prince Alfred Hosp. Sydney, Australia
TTN titin 188840 Leiden Muscular Dystrophy Pages Johan T. den Dunnen, Leiden Univ.Med Centre, Leiden, The Netherlands
MYOT myotilin 604103 Leiden Muscular Dystrophy pages Johan den Dunnen
TSHR thyroid stimulating hormone receptor 603372 TSH Receptor mutation database Ralf Paschke, Department of Internal Medicine III, University of Leipzig, Germany
TSC2 tuberous sclerosis 2 191092 TSC2 Mutation Database Sue Povey & Rosemary Ekong, Galton Laboratory, Biology, University
TSC1 tuberous sclerosis 1 605284 TSC Mutation Database Sue Povey & Rosemary Ekong, Galton Laboratory, Biology, University
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
TRO trophinin 300132 TRO database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 606860 SERPING1base: Mutation registry for Hereditary angioedema Mauno Vihinen, Univ. of Tampere, Tampere, Finland
TREX1 three prime repair exonuclease 1 606609 TREX1 database at LOVD Boukje de Vries, LUMC, Leiden, Nederland
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
TRB@ T cell receptor beta locus 186930 IMGT, the international ImMunoGeneTics information system® Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France
TRA@ T cell receptor alpha locus 186880 IMGT, the international ImMunoGeneTics information system® Marie-Paule Lefranc, CNRS, Université Montpellier II, Montpellier, France
TPM3 tropomyosin 3 191030 Leiden Muscular Dystrophy Pages Johan den Dunnen and Tom Winder
TPM2 tropomyosin 2 (beta) 190990 Leiden Muscular Dystrophy Pages Tom Winder & Johan den Dunnen
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
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)
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)
GIGYF2 GRB10 interacting GYF protein 2 612003 PARK11 Parkinson's disease Mutation Database The Parkinson's Institute
MED12 mediator complex subunit 12 300188 MED12 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TNNT3 troponin T type 3 (skeletal, fast) 600692 Leiden Muscular Dystrophy pages Johan T. den Dunnen Leiden Univ. Med Centre
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
TNNT2 troponin T type 2 (cardiac) 191045 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
TNNI3 troponin I type 3 (cardiac) 191044 Sarcomere Protein Gene Mutation Database NHLBI Program for Genomic Applications, Harvard Medical School, Boston, USA
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
TNNI2 troponin I type 2 (skeletal, fast) 191043 Leiden Muscular Dystrophy Pages Tom Winder & Johan den Dunnen
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
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
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
CD40LG CD40 ligand 300386 CCHMC - Human Genetics Mutation Database Ammar Husami and Theru A. Sivakumaran
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
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
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
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
TSPAN6 tetraspanin 6 300191 TSPAN6 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TINF2 TERF1 (TRF1)-interacting nuclear factor 2 604319 The Telomerase Database Julian J-L Chen at Arizona State University
TIMP3 TIMP metallopeptidase inhibitor 3 188826 Mutations of the Tissue Inhibitor of Metalloproteases 3 Gene Retina International
TIMP1 TIMP metallopeptidase inhibitor 1 305370 TIMP1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
TGFBR2 transforming growth factor, beta receptor II (70/80kDa) 190182 The UMD TGFBR2 mutations database G. Collod-Béroud
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
TGFB3 transforming growth factor, beta 3 190230 ARVD/C Genetic Variants Database Paul van der Zwaag
TFE3 transcription factor binding to IGHM enhancer 3 314310 TFE3 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
TEX13A testis expressed 13A 300312 TEX13A database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TEX11 testis expressed 11 300311 TEX11 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TERT telomerase reverse transcriptase 187270 The Telomerase Database Julian J-L Chen at Arizona State University
TERC telomerase RNA component 602322 The Telomerase Database Julian J-L Chen at Arizona State University
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
DYNLT3 dynein, light chain, Tctex-type 3 300302 DYNLT3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TCOF1 Treacher Collins-Franceschetti syndrome 1 606847 TCOF1 mutation database A. Splendore, Dept. of Genetics, B203 Beckman Center, Stanford University
TCN2 transcobalamin II; macrocytic anemia 275350 TCN2base: Mutation registry for Transcobalamin II deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
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
TCF4 transcription factor 4 602272 TCF4 database at LOVD Johan T. den Dunnen, Leiden Univ. Medical Centre, Leiden, The Netherlands & TCF4 Curator
HNF1A HNF1 homeobox A 142410 HNF1A at LOVD Monique Losekoot, LUMC, Leiden, Netherlands
TCAP titin-cap (telethonin) 604488 Leiden Muscular Dystrophy Pages Johan T. den Dunnen, Leiden Univ. Medical Centre, Leiden, The Netherlands
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
TBX22 T-box 22 300307 TBX22 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
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.
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
TAPBP TAP binding protein (tapasin) 601962 TAPBPbase: Mutation registry for Tapasin deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
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
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
EPCAM epithelial cell adhesion molecule 185535 InSiGHT - EPCAM Michael Woods, Amanda Dohey and Johan den Dunnen
SYP synaptophysin 313475 SYP database at LOVD Johan T. 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
VAMP7 vesicle-associated membrane protein 7 300053 VAMP7 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
STXBP2 syntaxin binding protein 2 601717 CCHMC - Human Genetics 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
STX11 syntaxin 11 605014 **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database Ammar Husami and Theru A. Sivakumaran
CDKL5 cyclin-dependent kinase-like 5 300203 CDKL5 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
SRPK3 SFRS protein kinase 3 \N SRPK3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
STAT5B signal transducer and activator of transcription 5B 604260 LOVD growth R Rosenfeld and V Hwa
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
STAT1 signal transducer and activator of transcription 1, 91kDa 600555 STAT1base: Mutation registry for STAT1 deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
SSX5 synovial sarcoma, X breakpoint 5 300327 SSX5 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
SSX1 synovial sarcoma, X breakpoint 1 312820 SSX1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
SSPN sarcospan 601599 Leiden Muscular Dystrophy pages Johan T den Dunnen Leiden Univ. Med Centre
SRPX sushi-repeat-containing protein, X-linked 300187 SRPX database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
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
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
BTD biotinidase 609019 Biotinidase Deficiency and BTD gene Database Melinda Procter, University of Utah, ARUP Laboratories
SOX3 SRY (sex determining region Y)-box 3 313430 SOX3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
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
SOD1 superoxide dismutase 1, soluble 147450 alsod.orgAn online database for ALS/SOD1 genetic mutations ALS/SOD1 consortium
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
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
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
SNCA synuclein, alpha (non A4 component of amyloid precursor) 163890 SNCA Parkinson's disease Mutation Database The Parkinson's Institute
SMS spermine synthase 300105 SMS 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
KDM5C lysine (K)-specific demethylase 5C 314690 KDM5C 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
ARID1A AT rich interactive domain 1A (SWI-like) 603024 ARID1A 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
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
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
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
SLC6A8 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 300036 Creatine transporter: solute carrier family 6 (neurotransmitter transporter (SLC6A8) Variation Database Gajja Salomons
SLC6A5 solute carrier family 6 (neurotransmitter transporter, glycine), member 5 604159 SLC6A5 database at LOVD Vincent Janmaat
SLC6A3 solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 126455 SLC6A3 database at LOVD Dr Manju Kurian and Dr. Derek Lim
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
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
BRCA2 breast cancer 2, early onset 600185 LOVD - BReast CAncer 2 - literature unclassified variants (BRCA2) 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
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
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
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
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
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
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
SLC25A13 solute carrier family 25, member 13 (citrin) 603859 SLC25A13 Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
SLC19A2 Solute carrier family 19 (thiamine transporter), member 2 603941 EURO-WABB Project Open Variation Database Dewi Astuti, Susan McAfferty
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
FOXL2 forkhead box L2 605597 The Human FOXL2 Allelic Variant Database Diane Beysen, Elfride de Baere, Centre for Medical Genetics, Gent, 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
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
SHOX short stature homeobox 312865 SHOX database at Heidelberg University Steffi Wilke, Dr. Beate Niesler, Ralph Roeth and Prof. Gudrun Rappold
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
SH2D1A SH2 domain containing 1A 300490 CCHMC - Human Genetics Mutation Database Ammar Husami and Theru A. Sivakumaran
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) 608896 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
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 601411 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
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) 600119 Leiden Muscular Dystrophy Pages Johan T. den Dunnen, Leiden Univ.Med Centre, Leiden, The Netherlands
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
BMX BMX non-receptor tyrosine kinase 300101 BMX database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
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
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
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
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
BMP15 bone morphogenetic protein 15 300247 BMP15 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
BMP1 bone morphogenetic protein 1 112264 Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants Raymond Dalgleish
SCNN1G sodium channel, nonvoltage-gated 1, gamma 600761 SCNN1G 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
SCNN1A sodium channel, nonvoltage-gated 1 alpha 600228 SCNN1A Database at LOVD Azad AK Ontario Cancer Institute, Toronto, Canada
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
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
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
SCN4A sodium channel, voltage-gated, type IV, alpha subunit 603967 SCN4A at LOVD Ieke Ginjaar & Vincent Janmaat, LUMC, Leiden, The Netherlands
SCML2 sex comb on midleg-like 2 (Drosophila) 300208 SCML2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
BLM Bloom syndrome, RecQ helicase-like 604610 BLMbase: Mutation registry for Bloom Syndrome Mauno Vihinen, Univ. of Tampere, Finland
SAG S-antigen; retina and pineal gland (arrestin) 181031 Mutations of the Arrestin Gene Retina International
BIN1 bridging integrator 1 601248 Leiden Muscular Dystrophy pages Johan T den Dunnen Leiden Univ. Med Centre
SACS spastic ataxia of Charlevoix-Saguenay (sacsin) 604490 SACSIN- Related autosomal recessive ataxia Bernard Brais, Isabelle Thiffault CHUM Notre-Dame Hospital Montreal, Canada
RYR2 ryanodine receptor 2 (cardiac) 180902 Gene Connection for the Heart - Catecholaminergic Polymorphic Ventricular Tachycardia C. Napolitano, Luciana deGiuli and Andrea Zuanetti, Pavia, Italy
RYR1 ryanodine receptor 1 (skeletal) 180901 Leiden Muscular Dystrophy pages Johan T. den Dunnen Leiden Univ. Med Centre
RS1 retinoschisin 1 312700 X-Linked Juvenile Retinoschisis Markus Preising & Johan den Dunnen, Leiden Univ. Medical Centre, Leiden, The Netherlands
RS1 retinoschisin 1 312700 Mutations of the X-linked Retinoschisis Gene Retina International
RPS7 ribosomal protein S7 603658 Diamond-Blackfan Anemia ribosomal protein S7 (RPS7) Illenia Boria and Ugo Ramenghi
BGN biglycan 301870 BGN database at LOVD Johan T. 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
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
RPS4X ribosomal protein S4, X-linked 312760 RPS4X database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RPS24 ribosomal protein S24 602412 Diamond-Blackfan Anemia ribosomal protein S24 (RPS24) 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
RPS19 ribosomal protein S19 603474 Diamond-Blackfan Anemia ribosomal protein S19 (RPS19) 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
RPS17 ribosomal protein S17 180472 Diamond-Blackfan Anemia ribosomal protein S17 (RPS17) Illenia Boria and Ugo Ramenghi
RPL5 ribosomal protein L5 603634 Diamond-Blackfan Anemia, ribosomal protein L5 (RPL5) Illenia Boria and Ugo Ramenghi
RPL36A ribosomal protein L36a \N RPL36A database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RPL39 ribosomal protein L39 601904 RPL39 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RPL35A ribosomal protein L35a 180468 Diamond-Blackfan Anemia, ribosomal protein L35a (RPL35A) Illenia Boria and Ugo Ramenghi
RPL11 ribosomal protein L11 604175 Diamond-Blackfan Anemia, ribosomal protein L11 (RPL11) Illenia Boria and Ugo Ramenghi
RPL10 ribosomal protein L10 312173 RPL10 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
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
RPE65 retinal pigment epithelium-specific protein 65kDa 180069 Mutations of the RPE65 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
RP2 retinitis pigmentosa 2 (X-linked recessive) 312600 Mutations of the RP2 Gene Retina International
RP1 retinitis pigmentosa 1 (autosomal dominant) 603937 Mutations of the RP1 Gene Retina International
ROR2 receptor tyrosine kinase-like orphan receptor 2 602337 ROR2 database at LOVD Jacopo Celli, LUMC, The Netherlands
ROM1 retinal outer segment membrane protein 1 180721 Mutations of the Rod Outer Membrane Proteine 1 (ROM1) 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
GRK1 G protein-coupled receptor kinase 1 180381 Mutations of the Rhodopsin Kinase Gene Retina International
RHO rhodopsin 180380 Mutations of the Rhodopsin Gene Retina International
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
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
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
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
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

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