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Molecular Genetics Laboratory Mutation Database

Basic information

ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ACADM MCAD acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain
ACADVL VLCAD acyl-Coenzyme A dehydrogenase, very long chain
ATP8B1 ATPase, class I, type 8B, member 1
CASP10 caspase 10, apoptosis-related cysteine peptidase
CD40LG CD40 ligand
CDH23 cadherin-like 23
CLRN1 USH3A clarin 1
DFNB31 deafness, autosomal recessive 31
ELANE ELA2 elastase, neutrophil expressed
FAS Fas (TNF receptor superfamily, member 6)
FASLG Fas ligand (TNF superfamily, member 6)
FOXP3 forkhead box P3
GAA glucosidase, alpha; acid
GBA Gaucher Disease; glucosidase, beta, acid
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
GLA galactosidase, alpha
GPR98 G protein-coupled receptor 98
HAX1 HCLS1 associated protein X-1
IL2RG interleukin 2 receptor, gamma (severe combined immunodeficiency)
JAG1 jagged 1 (Alagille syndrome)
KCNE1 potassium voltage-gated channel, Isk-related family, member 1
KCNQ1 potassium voltage-gated channel, KQT-like subfamily, member 1
MECP2 methyl CpG binding protein 2 (Rett syndrome)
MYO6 myosin VI
MYO7A myosin VIIA
OTOF otoferlin
PCDH15 protocadherin 15
PRF1 perforin 1 (pore forming protein)
RAB27A RAB27A, member RAS oncogene family
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SH2D1A XLP SH2 domain protein 1A
SLC26A4 solute carrier family 26, member 4
STX11 syntaxin 11
STXBP2 syntaxin binding protein 2
TMC1 transmembrane channel-like 1
TMIE transmembrane inner ear
TMPRSS3 transmembrane protease, serine 3
UNC13D unc-13 homolog D (C. elegans)
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
USH2A Usher syndrome 2A (autosomal recessive, mild)
WAS Wiskott-Aldrich syndrome (eczema-thrombocytopenia)
WFS1 Wolfram syndrome 1 (wolframin)
XIAP BIRC4 X-linked inhibitor of apoptosis


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  • Human readable DNA reference sequence for describing sequence variants
  • Follows HGVS recommendations & guidelines for describing DNA sequence variation

More information

 If you are looking for a specific gene database, please see the list of public LOVD installations and at the HGVS site.

Contact information

Ammar Husami