1 |
GJB2
|
NM_004004.5(GJB2): c.101T> C (p.Met34Thr)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs35887622
|
GRCh37 |
Chromosome 13, 20763620: 20763620 |
2 |
GJB2
|
NM_004004.5(GJB2): c.101T> C (p.Met34Thr)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs35887622
|
GRCh38 |
Chromosome 13, 20189481: 20189481 |
3 |
GJB2
|
NM_004004.5(GJB2): c.71G> A (p.Trp24Ter)
|
single nucleotide variant |
Pathogenic |
rs104894396
|
GRCh37 |
Chromosome 13, 20763650: 20763650 |
4 |
GJB2
|
NM_004004.5(GJB2): c.71G> A (p.Trp24Ter)
|
single nucleotide variant |
Pathogenic |
rs104894396
|
GRCh38 |
Chromosome 13, 20189511: 20189511 |
5 |
GJB2
|
NM_004004.5(GJB2): c.35delG (p.Gly12Valfs)
|
deletion |
Pathogenic |
rs80338939
|
GRCh37 |
Chromosome 13, 20763686: 20763686 |
6 |
GJB2
|
NM_004004.5(GJB2): c.35delG (p.Gly12Valfs)
|
deletion |
Pathogenic |
rs80338939
|
GRCh38 |
Chromosome 13, 20189547: 20189547 |
7 |
GJB2
|
NM_004004.5(GJB2): c.139G> T (p.Glu47Ter)
|
single nucleotide variant |
Pathogenic |
rs104894398
|
GRCh37 |
Chromosome 13, 20763582: 20763582 |
8 |
GJB2
|
NM_004004.5(GJB2): c.139G> T (p.Glu47Ter)
|
single nucleotide variant |
Pathogenic |
rs104894398
|
GRCh38 |
Chromosome 13, 20189443: 20189443 |
9 |
GJB2
|
NM_004004.5(GJB2): c.427C> T (p.Arg143Trp)
|
single nucleotide variant |
Pathogenic |
rs80338948
|
GRCh37 |
Chromosome 13, 20763294: 20763294 |
10 |
GJB2
|
NM_004004.5(GJB2): c.427C> T (p.Arg143Trp)
|
single nucleotide variant |
Pathogenic |
rs80338948
|
GRCh38 |
Chromosome 13, 20189155: 20189155 |
11 |
GJB2
|
NM_004004.5(GJB2): c.167delT (p.Leu56Argfs)
|
deletion |
Pathogenic |
rs80338942
|
GRCh37 |
Chromosome 13, 20763554: 20763554 |
12 |
GJB2
|
NM_004004.5(GJB2): c.167delT (p.Leu56Argfs)
|
deletion |
Pathogenic |
rs80338942
|
GRCh38 |
Chromosome 13, 20189415: 20189415 |
13 |
GJB2
|
NM_004004.5(GJB2): c.269T> C (p.Leu90Pro)
|
single nucleotide variant |
Pathogenic |
rs80338945
|
GRCh37 |
Chromosome 13, 20763452: 20763452 |
14 |
GJB2
|
NM_004004.5(GJB2): c.269T> C (p.Leu90Pro)
|
single nucleotide variant |
Pathogenic |
rs80338945
|
GRCh38 |
Chromosome 13, 20189313: 20189313 |
15 |
GJB2
|
NM_004004.5(GJB2): c.148G> A (p.Asp50Asn)
|
single nucleotide variant |
Pathogenic |
rs28931594
|
GRCh37 |
Chromosome 13, 20763573: 20763573 |
16 |
GJB2
|
NM_004004.5(GJB2): c.148G> A (p.Asp50Asn)
|
single nucleotide variant |
Pathogenic |
rs28931594
|
GRCh38 |
Chromosome 13, 20189434: 20189434 |
17 |
GJB2
|
NM_004004.5(GJB2): c.109G> A (p.Val37Ile)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs72474224
|
GRCh37 |
Chromosome 13, 20763612: 20763612 |
18 |
GJB2
|
NM_004004.5(GJB2): c.109G> A (p.Val37Ile)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs72474224
|
GRCh38 |
Chromosome 13, 20189473: 20189473 |
19 |
GJB2
|
NM_004004.5(GJB2): c.339T> G (p.Ser113Arg)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs80338946
|
GRCh37 |
Chromosome 13, 20763382: 20763382 |
20 |
GJB2
|
NM_004004.5(GJB2): c.339T> G (p.Ser113Arg)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs80338946
|
GRCh38 |
Chromosome 13, 20189243: 20189243 |
21 |
GJB2
|
NM_004004.5(GJB2): c.*84T> C
|
single nucleotide variant |
Benign |
rs3751385
|
GRCh37 |
Chromosome 13, 20762956: 20762956 |
22 |
GJB2
|
NM_004004.5(GJB2): c.*84T> C
|
single nucleotide variant |
Benign |
rs3751385
|
GRCh38 |
Chromosome 13, 20188817: 20188817 |
23 |
GJB2
|
NM_004004.5(GJB2): c.*111C> T
|
single nucleotide variant |
Benign |
rs7329857
|
GRCh37 |
Chromosome 13, 20762929: 20762929 |
24 |
GJB2
|
NM_004004.5(GJB2): c.*111C> T
|
single nucleotide variant |
Benign |
rs7329857
|
GRCh38 |
Chromosome 13, 20188790: 20188790 |
25 |
GJB2
|
NM_004004.5(GJB2): c.*1C> T
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs111033327
|
GRCh37 |
Chromosome 13, 20763039: 20763039 |
26 |
GJB2
|
NM_004004.5(GJB2): c.*1C> T
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs111033327
|
GRCh38 |
Chromosome 13, 20188900: 20188900 |
27 |
GJB2
|
NM_004004.5(GJB2): c.*3C> A
|
single nucleotide variant |
Likely benign |
rs111033460
|
GRCh37 |
Chromosome 13, 20763037: 20763037 |
28 |
GJB2
|
NM_004004.5(GJB2): c.*3C> A
|
single nucleotide variant |
Likely benign |
rs111033460
|
GRCh38 |
Chromosome 13, 20188898: 20188898 |
29 |
GJB2
|
NM_004004.5(GJB2): c.-22-12C> T
|
single nucleotide variant |
Benign |
rs9578260
|
GRCh37 |
Chromosome 13, 20763754: 20763754 |
30 |
GJB2
|
NM_004004.5(GJB2): c.-22-12C> T
|
single nucleotide variant |
Benign |
rs9578260
|
GRCh38 |
Chromosome 13, 20189615: 20189615 |
31 |
GJB2
|
NM_004004.5(GJB2): c.-45C> A
|
single nucleotide variant |
Benign/Likely benign |
rs397516868
|
GRCh37 |
Chromosome 13, 20766944: 20766944 |
32 |
GJB2
|
NM_004004.5(GJB2): c.-45C> A
|
single nucleotide variant |
Benign/Likely benign |
rs397516868
|
GRCh38 |
Chromosome 13, 20192805: 20192805 |
33 |
GJB2
|
NM_004004.5(GJB2): c.-6T> A
|
single nucleotide variant |
Benign/Likely benign |
rs148136545
|
GRCh37 |
Chromosome 13, 20763726: 20763726 |
34 |
GJB2
|
NM_004004.5(GJB2): c.-6T> A
|
single nucleotide variant |
Benign/Likely benign |
rs148136545
|
GRCh38 |
Chromosome 13, 20189587: 20189587 |
35 |
GJB2
|
NM_004004.5(GJB2): c.11G> A (p.Gly4Asp)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs111033222
|
GRCh37 |
Chromosome 13, 20763710: 20763710 |
36 |
GJB2
|
NM_004004.5(GJB2): c.11G> A (p.Gly4Asp)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs111033222
|
GRCh38 |
Chromosome 13, 20189571: 20189571 |
37 |
GJB2
|
NM_004004.5(GJB2): c.249C> G (p.Phe83Leu)
|
single nucleotide variant |
Benign/Likely benign |
rs111033218
|
GRCh37 |
Chromosome 13, 20763472: 20763472 |
38 |
GJB2
|
NM_004004.5(GJB2): c.249C> G (p.Phe83Leu)
|
single nucleotide variant |
Benign/Likely benign |
rs111033218
|
GRCh38 |
Chromosome 13, 20189333: 20189333 |
39 |
GJB2
|
NM_004004.5(GJB2): c.283G> A (p.Val95Met)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs111033299
|
GRCh37 |
Chromosome 13, 20763438: 20763438 |
40 |
GJB2
|
NM_004004.5(GJB2): c.283G> A (p.Val95Met)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs111033299
|
GRCh38 |
Chromosome 13, 20189299: 20189299 |
41 |
GJB2
|
NM_004004.5(GJB2): c.368C> A (p.Thr123Asn)
|
single nucleotide variant |
Benign/Likely benign |
rs111033188
|
GRCh37 |
Chromosome 13, 20763353: 20763353 |
42 |
GJB2
|
NM_004004.5(GJB2): c.368C> A (p.Thr123Asn)
|
single nucleotide variant |
Benign/Likely benign |
rs111033188
|
GRCh38 |
Chromosome 13, 20189214: 20189214 |
43 |
GJB2
|
NM_004004.5(GJB2): c.416G> A (p.Ser139Asn)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs76434661
|
GRCh37 |
Chromosome 13, 20763305: 20763305 |
44 |
GJB2
|
NM_004004.5(GJB2): c.416G> A (p.Ser139Asn)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs76434661
|
GRCh38 |
Chromosome 13, 20189166: 20189166 |
45 |
GJB2
|
NM_004004.5(GJB2): c.478G> A (p.Gly160Ser)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs34988750
|
GRCh37 |
Chromosome 13, 20763243: 20763243 |
46 |
GJB2
|
NM_004004.5(GJB2): c.478G> A (p.Gly160Ser)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs34988750
|
GRCh38 |
Chromosome 13, 20189104: 20189104 |
47 |
GJB2
|
NM_004004.5(GJB2): c.617A> G (p.Asn206Ser)
|
single nucleotide variant |
Pathogenic |
rs111033294
|
GRCh37 |
Chromosome 13, 20763104: 20763104 |
48 |
GJB2
|
NM_004004.5(GJB2): c.617A> G (p.Asn206Ser)
|
single nucleotide variant |
Pathogenic |
rs111033294
|
GRCh38 |
Chromosome 13, 20188965: 20188965 |
49 |
GJB2
|
NM_004004.5(GJB2): c.-15C> T
|
single nucleotide variant |
Benign/Likely benign |
rs72561725
|
GRCh37 |
Chromosome 13, 20763735: 20763735 |
50 |
GJB2
|
NM_004004.5(GJB2): c.-15C> T
|
single nucleotide variant |
Benign/Likely benign |
rs72561725
|
GRCh38 |
Chromosome 13, 20189596: 20189596 |