SACS |
spastic ataxia of Charlevoix-Saguenay (sacsin) |
604490 |
SACSIN- Related autosomal recessive ataxia |
Bernard Brais, Isabelle Thiffault CHUM Notre-Dame Hospital Montreal, Canada |
SAG |
S-antigen; retina and pineal gland (arrestin) |
181031 |
Mutations of the Arrestin Gene |
Retina International |
SAGE1 |
sarcoma antigen 1 |
300359 |
SAGE1 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
SASH3 |
SAM and SH3 domain containing 3 |
300441 |
SASH3 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
SATL1 |
spermidine/spermine N1-acetyl transferase-like 1 |
\N |
SATL1 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
SBDS |
Shwachman-Bodian-Diamond syndrome |
607444 |
SBDSbase: Mutation registry for Shwachman-Diamond syndrome |
László Maródi and Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
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 |
SCML2 |
sex comb on midleg-like 2 (Drosophila) |
300208 |
SCML2 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
SCN4A |
sodium channel, voltage-gated, type IV, alpha subunit |
603967 |
SCN4A at LOVD |
Ieke Ginjaar & Vincent Janmaat, LUMC, Leiden, The Netherlands |
SCN4B |
sodium channel, voltage-gated, type IV, beta |
608256 |
Zhejiang University-Adinovo Center SCN4B Database |
Ming Qi, PhD, FACMG, Peikuan Cong, Yudong Gao and Tao Zhang |
SCN5A |
sodium channel, voltage-gated, type V, alpha subunit |
600163 |
Long QT Syndrome mutation database |
Michael Christiansen, Lars A. Larsen, Paal Skytt Andersen, Molecular Cardiology grp, Statens Serum Institut, Copenhagen, Denmark |
SCN5A |
sodium channel, voltage-gated, type V, alpha subunit |
600163 |
Gene Connection for the Heart |
P. Brugada, Alalst, Belgium; J. Brugada, Banyoles, Spain; R. Brugada, Houston, Texas, U.S.A.; A.A.M. Wilde Amsterdam, The Netherlands |
SCN5A |
sodium channel, voltage-gated, type V, alpha subunit |
600163 |
Zhejiang University-Adinovo Center SCN5A Database |
Ming Qi, PhD, FACMG, Peikuan Cong and Yudong Gao |
SCNN1A |
sodium channel, nonvoltage-gated 1 alpha |
600228 |
SCNN1A Database at LOVD |
Azad AK Ontario Cancer Institute, Toronto, Canada |
SCNN1B |
sodium channel, nonvoltage-gated 1, beta |
600760 |
SCNN1B Database at LOVD |
Azad AK Ontario Cancer Institute, Toronto, Canada |
SCNN1G |
sodium channel, nonvoltage-gated 1, gamma |
600761 |
SCNN1G Database at LOVD |
Azad AK Ontario Cancer Institute, Toronto, Canada |
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 |
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 |
SDHB |
succinate dehydrogenase complex, subunit B, iron sulfur (Ip) |
185470 |
TCA Cycle Gene Mutation Database -SDHB |
J.P.L. Bayley, Peter E.M. Taschner, Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands |
SDHC |
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa |
602413 |
TCA Cycle Gene Mutation Database -SDHC |
J.P.L. Bayley, Peter E.M. Taschner, Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands |
SDHD |
succinate dehydrogenase complex, subunit D, integral membrane protein |
602690 |
TCA Cycle Gene Mutation Database -SDHD |
J.P.L. Bayley, Peter E.M. Taschner, Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands |
SEPN1 |
selenoprotein N, 1 |
606210 |
Leiden Muscular Dystrophy Pages |
Johan den Dunnen, Tom Winder |
SEPT6 |
septin 6 |
300683 |
SEPT6 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
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 |
SERPINA1 |
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 |
107400 |
CCHMC - Human Genetics Mutation Database |
Ammar Husami and Theru A. Sivakumaran |
SERPINA1 |
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 |
107400 |
A1ATVar: A1-antitrypsin database |
G.P. Patrinos and S. Zaimidou |
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 |
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. |
SERPINF1 |
serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 |
172860 |
Osteogenesis Imperfecta Variation Database |
Raymond Dalgleish |
SERPING1 |
serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 |
606860 |
SERPING1base: Mutation registry for Hereditary angioedema |
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. |
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 |
SGCA |
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) |
600119 |
Leiden Muscular Dystrophy Pages |
Johan T. den Dunnen, Leiden Univ.Med Centre, Leiden, The Netherlands |
SGCB |
sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) |
600900 |
Leiden Muscular Dystrophy Pages |
Johan T. den Dunnen, Leiden Univ.Med Centre, Leiden, The Netherlands |
SGCD |
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) |
601411 |
Leiden Muscular Dystrophy Pages |
Johan T. den Dunnen, Leiden Univ.Med Centre, Leiden, The Netherlands |
SGCE |
sarcoglycan, epsilon |
604149 |
Leiden Muscular Dystrophy Pages |
Johan T. den Dunnen, Leiden Univ. Med Centre, Leiden, The Netherlands |
SGCG |
sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) |
608896 |
Leiden Muscular Dystrophy Pages |
Johan T. den Dunnen, Leiden Univ. Med Centre, Leiden, The Netherlands |
SGCZ |
sarcoglycan, zeta |
608113 |
Leiden Muscular Dystrophy Pages |
Johan den Dunnen, LUMC, Leiden, Netherlands |
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 |
SH3KBP1 |
SH3-domain kinase binding protein 1 |
300374 |
SH3KBP1 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 |
SHOX |
short stature homeobox |
312865 |
SHOX database at Heidelberg University |
Steffi Wilke, Dr. Beate Niesler, Ralph Roeth and Prof. Gudrun Rappold |
SHROOM2 |
shroom family member 2 |
300103 |
SHROOM2 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 |
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 |
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 |
SLC12A6 |
solute carrier family 12 (potassium/chloride transporters), member 6 |
604878 |
Inherited Peripheral Neuropathies Mutation Database |
Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
SLC14A1 |
solute carrier family 14 (urea transporter), member 1 (Kidd blood group) |
111000 |
Blood Group Antigen Mutation Database |
Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept. of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A |
SLC16A2 |
solute carrier family 16, member 2 (monocarboxylic acid transporter 8) |
300095 |
SLC16A2 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
SLC19A2 |
Solute carrier family 19 (thiamine transporter), member 2 |
603941 |
EURO-WABB Project Open Variation Database |
Dewi Astuti, Susan McAfferty |
SLC22A5 |
solute carrier family 22 (organic cation/carnitine transporter), member 5 |
603377 |
Primary Carnitine Deficiency (OCTN2) and SLC22A5 gene Database |
Fernanda Calderon, MS, ARUP Institute for Clinical and Experimental Pathology(r), Salt Lake City, UT, USA |
SLC25A13 |
solute carrier family 25, member 13 (citrin) |
603859 |
SLC25A13 |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
SLC25A14 |
solute carrier family 25 (mitochondrial carrier, brain), member 14 |
300242 |
SLC25A14 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
SLC25A15 |
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 |
603861 |
SLC25A15 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
SLC25A43 |
solute carrier family 25, member 43 |
300641 |
SLC25A43 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
SLC25A5 |
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 |
300150 |
SLC25A5 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
SLC25A6 |
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 |
403000 |
SLC25A6 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
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 |
SLC29A3 |
solute carrier family 29 (nucleoside transporters), member 3 |
612373 |
SLC29A3 database at LOVD |
Dr Neil Morgan and Dr. Derek Lim |
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 |
SLC35C1 |
solute carrier family 35, member C1 |
605881 |
Congenital Disorder of Glycosylation pages |
Gert Matthijs Center for Human Genetics Leuven, Belgium |
SLC38A5 |
solute carrier family 38, member 5 |
300649 |
SLC38A5 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 |
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 |
SLC4A11 |
solute carrier family 4, sodium borate transporter, member 11 |
610206 |
SLC4A11 at Mendelian Genes |
Dr. Joseph Casey, University of Alberta |
SLC6A14 |
solute carrier family 6 (amino acid transporter), member 14 |
300444 |
SLC6A14 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
SLC6A3 |
solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 |
126455 |
SLC6A3 database at LOVD |
Dr Manju Kurian and Dr. Derek Lim |
SLC6A5 |
solute carrier family 6 (neurotransmitter transporter, glycine), member 5 |
604159 |
SLC6A5 database at LOVD |
Vincent Janmaat |
SLC6A8 |
solute carrier family 6 (neurotransmitter transporter, creatine), member 8 |
300036 |
Creatine transporter: solute carrier family 6 (neurotransmitter transporter (SLC6A8) Variation Database |
Gajja Salomons |
SLC7A3 |
solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 |
300443 |
SLC7A3 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
SLC9A6 |
solute carrier family 9 (sodium/hydrogen exchanger), member 6 |
300231 |
SLC9A6 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
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 |
SLITRK2 |
SLIT and NTRK-like family, member 2 |
300561 |
SLITRK2 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
SLITRK4 |
SLIT and NTRK-like family, member 4 |
300562 |
SLITRK4 database at LOVD |
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
SMAD3 |
SMAD family member 3 |
603109 |
SMAD family member 3 (SMAD3) database |
Belinda Giardine and Joseph Borg |
SMAD4 |
SMAD family member 4 |
600993 |
Juvenile Polyposis Syndrome and SMAD4 Grne Database |
Pinar Bayrak-Toydemir, University of Utah, ARUP Laboratories |
SMAD6 |
SMAD family member 6 |
602931 |
SMAD family member 6 (SMAD6) database |
Belinda Giardine and Joseph Borg |
SMARCA1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 |
300012 |
SMARCA1 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
SMARCAL1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 |
606622 |
SMARCAL1base: Mutation registry for Schimke immuno-osseous dysplasia |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
SMC1A |
structural maintenance of chromosomes 1A |
300040 |
SMC1A 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 |
SMN1 |
survival of motor neuron 1, telomeric |
600354 |
SMN1 - Spinal Muscular Atrophy (SMA) |
Johan T. den Dunnen, Leiden Univ.Med Centre, Leiden, The Netherlands |
SMS |
spermine synthase |
300105 |
SMS database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
SNCA |
synuclein, alpha (non A4 component of amyloid precursor) |
163890 |
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 |
SNTA1 |
syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component) |
601017 |
Zhejiang University-Adinovo Center SNTA1 Database |
Ming Qi, PhD, FACMG, Peikuan Cong, Yudong Gao and Tao Zhang |
SOD1 |
superoxide dismutase 1, soluble |
147450 |
alsod.orgAn online database for ALS/SOD1 genetic mutations |
ALS/SOD1 consortium |
SOST |
sclerosteosis |
605740 |
LOVD - Leiden Open Variation Database |
Wim van Hul |
SOX10 |
SRY (sex determining region Y)-box 10 |
602229 |
Inherited Peripheral Neuropathies Mutation Database |
Eva Nelis Molecular Genetics Department; Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium |
SOX10 |
SRY (sex determining region Y)-box 10 |
602229 |
SOX10 database at LOVD |
Veronique Pingault Laboratoire de Biochimie et Génétique, Hopital Henri Mondor Creteil cedex, France |
SOX2 |
SRY (sex determining region Y)-box 2 |
184429 |
SOX2 database at MRC Human Genetics Unit |
Graeme Grimes, Isabel Hanson, David FitzPatrick, Kathy Williamson and Veronica van Heyningen |
SOX3 |
SRY (sex determining region Y)-box 3 |
313430 |
SOX3 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
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 |
SP7 |
Sp7 transcription factor |
606633 |
Osteogenesis Imperfecta Variant Database |
Raymond Dalgleish |
SPANXN1 |
SPANX family, member N1 |
300664 |
SPANXN1 database at LOVD |
Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
SPANXN4 |
SPANX family, member N4 |
300667 |
SPANXN4 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
SPIN2A |
spindlin family, member 2A |
300621 |
SPIN2A database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
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 |
SPINK5 |
serine peptidase inhibitor, Kazal type 5 |
605010 |
SPINK5base: Mutation registry for Netherton syndrome |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
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 |
SPRED1 |
sprouty-related, EVH1 domain containing 1 |
609291 |
Legius Syndrome and SPRED1 Gene Database |
Kelli Sumner, University of Utah, ARUP Laboratories |
SPSB1 |
splA/ryanodine receptor domain and SOCS box containing 1 |
611657 |
LOVD 3.0 shared installation (SPSB1) |
LOVD-Team , but with 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 |
SRPK3 |
SFRS protein kinase 3 |
\N |
SRPK3 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
SRPX |
sushi-repeat-containing protein, X-linked |
300187 |
SRPX database at LOVD |
Johan T. den Dunnen 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 |
SSPN |
sarcospan |
601599 |
Leiden Muscular Dystrophy pages |
Johan T den Dunnen Leiden Univ. Med Centre |
SSX1 |
synovial sarcoma, X breakpoint 1 |
312820 |
SSX1 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
SSX3 |
synovial sarcoma, X breakpoint 3 |
300325 |
SSX3 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
SSX5 |
synovial sarcoma, X breakpoint 5 |
300327 |
SSX5 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
SSX6 |
synovial sarcoma, X breakpoint 6 (pseudogene) |
300541 |
SSX6 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
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 |
STAT1 |
signal transducer and activator of transcription 1, 91kDa |
600555 |
STAT1base: Mutation registry for STAT1 deficiency |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
STAT5B |
signal transducer and activator of transcription 5B |
604260 |
STAT5Bbase: Mutation registry for Growth hormone insensitivity with immunodeficiency |
Mauno Vihinen, Univ. of Tampere, Tampere, Finland |
STAT5B |
signal transducer and activator of transcription 5B |
604260 |
LOVD growth |
R Rosenfeld and V Hwa |
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 |
STXBP2 |
syntaxin binding protein 2 |
601717 |
CCHMC - Human Genetics Mutation Database |
Ammar Husami and Theru A. Sivakumaran |
SUV39H1 |
suppressor of variegation 3-9 homolog 1 (Drosophila) |
300254 |
SUV39H1 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
SYAP1 |
synapse associated protein 1, SAP47 homolog (Drosophila) |
\N |
SYAP1 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 |
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 |
SYP |
synaptophysin |
313475 |
SYP database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
SYTL4 |
synaptotagmin-like 4 |
300723 |
SYTL4 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
SYTL5 |
synaptotagmin-like 5 |
\N |
SYTL5 database at LOVD |
Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |