Annotation Detail
Information
- Associated Genes
- GJB2
- Associated Variants
-
GJB2 p.Arg216IlefsTer17 (p.R216Ifs*17)
(
ENST00000382844.2,
ENST00000382848.5 )
GJB2 p.Cys211LeufsTer5 (p.C211Lfs*5) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Glu120del (p.E120del) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Lys112GlufsTer2 (p.K112Efs*2) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Lys105ArgfsTer2 (p.K105Rfs*2) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Lys105GlyfsTer5 (p.K105Gfs*5) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.His100ArgfsTer14 (p.H100Rfs*14) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Leu79CysfsTer3 (p.L79Cfs*3) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Leu56ArgfsTer26 (p.L56Rfs*26) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Gly11LeufsTer24 (p.G11Lfs*24) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Gly12ValfsTer2 (p.G12Vfs*2) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Arg216IlefsTer17 (p.R216Ifs*17) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Cys211LeufsTer5 (p.C211Lfs*5) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Glu120del (p.E120del) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Lys112GlufsTer2 (p.K112Efs*2) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Lys105ArgfsTer2 (p.K105Rfs*2) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Lys105GlyfsTer5 (p.K105Gfs*5) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.His100ArgfsTer14 (p.H100Rfs*14) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Leu79CysfsTer3 (p.L79Cfs*3) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Leu56ArgfsTer26 (p.L56Rfs*26) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gly11LeufsTer24 (p.G11Lfs*24) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gly12ValfsTer2 (p.G12Vfs*2) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Val198GlnfsTer4 (p.V198Qfs*4) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Val198GlnfsTer4 (p.V198Qfs*4) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Asn206Ser (p.N206S) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Gly200Ter (p.G200*) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Ser199Phe (p.S199F) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg184Pro (p.R184P) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg184Gln (p.R184Q) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Met163Val (p.M163V) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Asp159Val (p.D159V) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Tyr155Ter (p.Y155*) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Tyr152Ter (p.Y152*) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Arg143Gln (p.R143Q) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg143Trp (p.R143W) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Ser139Asn (p.S139N) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Tyr136Ter (p.Y136*) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Gln124Ter (p.Q124*) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Lys122Ile (p.K122I) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Glu119Lys (p.E119K) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Ser113Arg (p.S113R) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.His100Tyr (p.H100Y) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Val95Met (p.V95M) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Leu90Pro (p.L90P) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Val84Leu (p.V84L) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Val84Leu (p.V84L) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Val84Met (p.V84M) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Ile82Met (p.I82M) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gln80Pro (p.Q80P) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Trp77Ter (p.W77*) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Trp77Ter (p.W77*) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Trp77Arg (p.W77R) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Pro70Ala (p.P70A) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Tyr65Cys (p.Y65C) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Gln57Ter (p.Q57*) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Asp50Tyr (p.D50Y) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Asp50Asn (p.D50N) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Glu47Ter (p.E47*) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Gly45Glu (p.G45E) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Trp44Ser (p.W44S) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Trp44Ter (p.W44*) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Ala40Gly (p.A40G) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Ala40Glu (p.A40E) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Val37Phe (p.V37F) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Val37Ile (p.V37I) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Met34Arg (p.M34R) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Met34Thr (p.M34T) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Arg32Leu (p.R32L) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg32His (p.R32H) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg32Cys (p.R32C) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Trp24Ter (p.W24*) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Ser19Ile (p.S19I) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Ser19Thr (p.S19T) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Lys15Thr (p.K15T) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gly12Val (p.G12V) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Gly12Asp (p.G12D) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Gly12Cys (p.G12C) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gly12Arg (p.G12R) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gln7Ter (p.Q7*) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Trp3Ter (p.W3*) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.? (p.?) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 c.-23+1G>A ( ENST00000382848.5 )
GJB2 c.-23G>T ( ENST00000382848.5 )
GJB2 p.Asn206Ser (p.N206S) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gly200Ter (p.G200*) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Ser199Phe (p.S199F) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg184Pro (p.R184P) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg184Gln (p.R184Q) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Met163Val (p.M163V) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Asp159Val (p.D159V) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Tyr155Ter (p.Y155*) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Tyr152Ter (p.Y152*) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg143Gln (p.R143Q) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg143Trp (p.R143W) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Ser139Asn (p.S139N) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Tyr136Ter (p.Y136*) ( ENST00000382848.5, ENST00000382844.2 )
GJB2 p.Gln124Ter (p.Q124*) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Lys122Ile (p.K122I) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Glu119Lys (p.E119K) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Ser113Arg (p.S113R) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.His100Tyr (p.H100Y) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Val95Met (p.V95M) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Leu90Pro (p.L90P) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Val84Leu (p.V84L) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Val84Leu (p.V84L) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Val84Met (p.V84M) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Ile82Met (p.I82M) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gln80Pro (p.Q80P) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Trp77Ter (p.W77*) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Trp77Ter (p.W77*) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Trp77Arg (p.W77R) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Pro70Ala (p.P70A) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Tyr65Cys (p.Y65C) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gln57Ter (p.Q57*) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Asp50Tyr (p.D50Y) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Asp50Asn (p.D50N) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Glu47Ter (p.E47*) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gly45Glu (p.G45E) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Trp44Ser (p.W44S) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Trp44Ter (p.W44*) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Ala40Gly (p.A40G) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Ala40Glu (p.A40E) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Val37Phe (p.V37F) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Val37Ile (p.V37I) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Met34Arg (p.M34R) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Met34Thr (p.M34T) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg32Leu (p.R32L) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg32His (p.R32H) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Arg32Cys (p.R32C) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Trp24Ter (p.W24*) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Ser19Ile (p.S19I) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Ser19Thr (p.S19T) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Lys15Thr (p.K15T) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gly12Val (p.G12V) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gly12Asp (p.G12D) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gly12Cys (p.G12C) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gly12Arg (p.G12R) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Gln7Ter (p.Q7*) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.Trp3Ter (p.W3*) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 p.? (p.?) ( ENST00000382844.2, ENST00000382848.5 )
GJB2 c.-23+1G>A ( ENST00000382848.5 )
GJB2 c.-23G>T ( ENST00000382848.5 )
GJB2 p.Trp172ThrfsTer39 (p.W172Tfs*39)
GJB2 p.Arg98ThrfsTer4 (p.R98Tfs*4)
GJB2 p.Val91CysfsTer11 (p.V91Cfs*11)
GJB2 p.Val13GlyfsTer35 (p.V13Gfs*35)
GJB2 p.Trp172ThrfsTer39 (p.W172Tfs*39)
GJB2 p.Arg98ThrfsTer4 (p.R98Tfs*4)
GJB2 p.Val91CysfsTer11 (p.V91Cfs*11)
GJB2 p.Val13GlyfsTer35 (p.V13Gfs*35) - Associated Disease
- DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.44
- Year of publication
- NA
Drugs