1 |
GJB1
|
NM_000166.5(GJB1): c.424C> T (p.Arg142Trp)
|
single nucleotide variant |
Pathogenic |
rs104894810
|
GRCh37 |
Chromosome X, 70443981: 70443981 |
2 |
GJB1
|
NM_000166.5(GJB1): c.424C> T (p.Arg142Trp)
|
single nucleotide variant |
Pathogenic |
rs104894810
|
GRCh38 |
Chromosome X, 71224131: 71224131 |
3 |
GJB1
|
NM_001097642.2(GJB1): c.514C> T (p.Pro172Ser)
|
single nucleotide variant |
Pathogenic |
rs104894811
|
GRCh37 |
Chromosome X, 70444071: 70444071 |
4 |
GJB1
|
NM_001097642.2(GJB1): c.514C> T (p.Pro172Ser)
|
single nucleotide variant |
Pathogenic |
rs104894811
|
GRCh38 |
Chromosome X, 71224221: 71224221 |
5 |
GJB1
|
NM_000166.5(GJB1): c.415G> A (p.Val139Met)
|
single nucleotide variant |
Pathogenic |
rs104894812
|
GRCh37 |
Chromosome X, 70443972: 70443972 |
6 |
GJB1
|
NM_000166.5(GJB1): c.415G> A (p.Val139Met)
|
single nucleotide variant |
Pathogenic |
rs104894812
|
GRCh38 |
Chromosome X, 71224122: 71224122 |
7 |
GJB1
|
NM_001097642.2(GJB1): c.397T> C (p.Trp133Arg)
|
single nucleotide variant |
Pathogenic |
rs104894813
|
GRCh37 |
Chromosome X, 70443954: 70443954 |
8 |
GJB1
|
NM_001097642.2(GJB1): c.397T> C (p.Trp133Arg)
|
single nucleotide variant |
Pathogenic |
rs104894813
|
GRCh38 |
Chromosome X, 71224104: 71224104 |
9 |
GJB1
|
NM_000166.5(GJB1): c.658C> T (p.Arg220Ter)
|
single nucleotide variant |
Pathogenic |
rs104894814
|
GRCh37 |
Chromosome X, 70444215: 70444215 |
10 |
GJB1
|
NM_000166.5(GJB1): c.658C> T (p.Arg220Ter)
|
single nucleotide variant |
Pathogenic |
rs104894814
|
GRCh38 |
Chromosome X, 71224365: 71224365 |
11 |
GJB1
|
NM_001097642.2(GJB1): c.89T> A (p.Ile30Asn)
|
single nucleotide variant |
Pathogenic |
rs104894817
|
GRCh37 |
Chromosome X, 70443646: 70443646 |
12 |
GJB1
|
NM_001097642.2(GJB1): c.89T> A (p.Ile30Asn)
|
single nucleotide variant |
Pathogenic |
rs104894817
|
GRCh38 |
Chromosome X, 71223796: 71223796 |
13 |
GJB1
|
NM_000166.5(GJB1): c.467T> G (p.Leu156Arg)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs104894818
|
GRCh37 |
Chromosome X, 70444024: 70444024 |
14 |
GJB1
|
NM_000166.5(GJB1): c.467T> G (p.Leu156Arg)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs104894818
|
GRCh38 |
Chromosome X, 71224174: 71224174 |
15 |
GJB1
|
NM_001097642.2(GJB1): c.194A> G (p.Tyr65Cys)
|
single nucleotide variant |
Pathogenic |
rs104894819
|
GRCh37 |
Chromosome X, 70443751: 70443751 |
16 |
GJB1
|
NM_001097642.2(GJB1): c.194A> G (p.Tyr65Cys)
|
single nucleotide variant |
Pathogenic |
rs104894819
|
GRCh38 |
Chromosome X, 71223901: 71223901 |
17 |
GJB1
|
NM_001097642.2(GJB1): c.37G> T (p.Val13Leu)
|
single nucleotide variant |
Pathogenic |
rs104894820
|
GRCh37 |
Chromosome X, 70443594: 70443594 |
18 |
GJB1
|
NM_001097642.2(GJB1): c.37G> T (p.Val13Leu)
|
single nucleotide variant |
Pathogenic |
rs104894820
|
GRCh38 |
Chromosome X, 71223744: 71223744 |
19 |
GJB1
|
GJB1, 1-BP DEL
|
deletion |
Pathogenic |
|
|
|
20 |
GJB1
|
NM_000166.5(GJB1): c.283G> A (p.Val95Met)
|
single nucleotide variant |
Pathogenic |
rs104894821
|
GRCh37 |
Chromosome X, 70443840: 70443840 |
21 |
GJB1
|
NM_000166.5(GJB1): c.283G> A (p.Val95Met)
|
single nucleotide variant |
Pathogenic |
rs104894821
|
GRCh38 |
Chromosome X, 71223990: 71223990 |
22 |
GJB1
|
NM_000166.5(GJB1): c.614A> G (p.Asn205Ser)
|
single nucleotide variant |
Pathogenic |
rs104894822
|
GRCh37 |
Chromosome X, 70444171: 70444171 |
23 |
GJB1
|
NM_000166.5(GJB1): c.614A> G (p.Asn205Ser)
|
single nucleotide variant |
Pathogenic |
rs104894822
|
GRCh38 |
Chromosome X, 71224321: 71224321 |
24 |
GJB1
|
GJB1, 367G-T
|
single nucleotide variant |
Pathogenic |
|
|
|
25 |
GJB1
|
NM_001097642.2(GJB1): c.254C> G (p.Ser85Cys)
|
single nucleotide variant |
Pathogenic |
rs104894823
|
GRCh37 |
Chromosome X, 70443811: 70443811 |
26 |
GJB1
|
NM_001097642.2(GJB1): c.254C> G (p.Ser85Cys)
|
single nucleotide variant |
Pathogenic |
rs104894823
|
GRCh38 |
Chromosome X, 71223961: 71223961 |
27 |
GJB1
|
GJB1, -528T-G
|
single nucleotide variant |
Pathogenic |
|
|
|
28 |
GJB1
|
NM_000166.5(GJB1): c.164C> T (p.Thr55Ile)
|
single nucleotide variant |
Pathogenic |
rs104894824
|
GRCh37 |
Chromosome X, 70443721: 70443721 |
29 |
GJB1
|
NM_000166.5(GJB1): c.164C> T (p.Thr55Ile)
|
single nucleotide variant |
Pathogenic |
rs104894824
|
GRCh38 |
Chromosome X, 71223871: 71223871 |
30 |
GJB1
|
GJB1, 21-BP DUP
|
duplication |
Pathogenic |
|
|
|
31 |
GJB1
|
GJB1, 3-BP DEL, 304GAG
|
deletion |
Pathogenic |
|
|
|
32 |
GJB1
|
GJB1, -526G-C
|
single nucleotide variant |
Pathogenic |
|
|
|
33 |
GJB1
|
NM_000166.5(GJB1): c.704T> G (p.Phe235Cys)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs104894825
|
GRCh37 |
Chromosome X, 70444261: 70444261 |
34 |
GJB1
|
NM_000166.5(GJB1): c.704T> G (p.Phe235Cys)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs104894825
|
GRCh38 |
Chromosome X, 71224411: 71224411 |
35 |
GJB1
|
NM_000166.5(GJB1): c.407T> C (p.Val136Ala)
|
single nucleotide variant |
Pathogenic |
rs104894826
|
GRCh37 |
Chromosome X, 70443964: 70443964 |
36 |
GJB1
|
NM_000166.5(GJB1): c.407T> C (p.Val136Ala)
|
single nucleotide variant |
Pathogenic |
rs104894826
|
GRCh38 |
Chromosome X, 71224114: 71224114 |
37 |
GJB1
|
NM_000166.5(GJB1): c.123G> C (p.Glu41Asp)
|
single nucleotide variant |
Pathogenic |
rs116840816
|
GRCh37 |
Chromosome X, 70443680: 70443680 |
38 |
GJB1
|
NM_000166.5(GJB1): c.123G> C (p.Glu41Asp)
|
single nucleotide variant |
Pathogenic |
rs116840816
|
GRCh38 |
Chromosome X, 71223830: 71223830 |
39 |
GJB1
|
NM_000166.5(GJB1): c.145T> C (p.Ser49Pro)
|
single nucleotide variant |
Pathogenic |
rs116840817
|
GRCh37 |
Chromosome X, 70443702: 70443702 |
40 |
GJB1
|
NM_000166.5(GJB1): c.145T> C (p.Ser49Pro)
|
single nucleotide variant |
Pathogenic |
rs116840817
|
GRCh38 |
Chromosome X, 71223852: 71223852 |
41 |
GJB1
|
NM_000166.5(GJB1): c.187G> A (p.Val63Ile)
|
single nucleotide variant |
Pathogenic |
rs116840818
|
GRCh37 |
Chromosome X, 70443744: 70443744 |
42 |
GJB1
|
NM_000166.5(GJB1): c.187G> A (p.Val63Ile)
|
single nucleotide variant |
Pathogenic |
rs116840818
|
GRCh38 |
Chromosome X, 71223894: 71223894 |
43 |
GJB1
|
NM_000166.5(GJB1): c.223C> T (p.Arg75Trp)
|
single nucleotide variant |
Pathogenic |
rs116840819
|
GRCh37 |
Chromosome X, 70443780: 70443780 |
44 |
GJB1
|
NM_000166.5(GJB1): c.223C> T (p.Arg75Trp)
|
single nucleotide variant |
Pathogenic |
rs116840819
|
GRCh38 |
Chromosome X, 71223930: 71223930 |
45 |
GJB1
|
NM_000166.5(GJB1): c.225delG (p.Leu76Cysfs)
|
deletion |
Pathogenic |
rs116840820
|
GRCh37 |
Chromosome X, 70443782: 70443782 |
46 |
GJB1
|
NM_000166.5(GJB1): c.225delG (p.Leu76Cysfs)
|
deletion |
Pathogenic |
rs116840820
|
GRCh38 |
Chromosome X, 71223932: 71223932 |
47 |
GJB1
|
NM_000166.5(GJB1): c.43C> T (p.Arg15Trp)
|
single nucleotide variant |
Pathogenic |
rs116840815
|
GRCh37 |
Chromosome X, 70443600: 70443600 |
48 |
GJB1
|
NM_000166.5(GJB1): c.43C> T (p.Arg15Trp)
|
single nucleotide variant |
Pathogenic |
rs116840815
|
GRCh38 |
Chromosome X, 71223750: 71223750 |
49 |
GJB1
|
NM_000166.5(GJB1): c.536G> A (p.Cys179Tyr)
|
single nucleotide variant |
Likely pathogenic |
rs116840822
|
GRCh37 |
Chromosome X, 70444093: 70444093 |
50 |
GJB1
|
NM_000166.5(GJB1): c.536G> A (p.Cys179Tyr)
|
single nucleotide variant |
Likely pathogenic |
rs116840822
|
GRCh38 |
Chromosome X, 71224243: 71224243 |