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 SYMBOL HGNC gene description OMIM NO DATABASE NAME/INTERNET ADDRESS CURATORS
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 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
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 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
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 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
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, Universit?t 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 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
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

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