Basic information
- Locus Specific Mutation Database
- Main address: http://research.cchmc.org/LOVD2/
- Current version: LOVD v.2.0 Build 36
- Contains 49 genes
| 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 |
Features
- Privacy compliant. Patient sensitive information are not recorded.
- 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