1 |
SCN9A
|
NM_002977.3(SCN9A): c.1964A> G (p.Lys655Arg)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs121908919
|
GRCh37 |
Chromosome 2, 167138296: 167138296 |
2 |
SCN9A
|
NM_002977.3(SCN9A): c.1964A> G (p.Lys655Arg)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs121908919
|
GRCh38 |
Chromosome 2, 166281786: 166281786 |
3 |
SCN9A
|
NM_002977.3(SCN9A): c.29A> G (p.Gln10Arg)
|
single nucleotide variant |
Likely benign |
rs267607030
|
GRCh37 |
Chromosome 2, 167168238: 167168238 |
4 |
SCN9A
|
NM_002977.3(SCN9A): c.29A> G (p.Gln10Arg)
|
single nucleotide variant |
Likely benign |
rs267607030
|
GRCh38 |
Chromosome 2, 166311728: 166311728 |
5 |
SCN1B
|
NM_001037.4(SCN1B): c.363C> G (p.Cys121Trp)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs104894718
|
GRCh37 |
Chromosome 19, 35524558: 35524558 |
6 |
SCN1B
|
NM_001037.4(SCN1B): c.363C> G (p.Cys121Trp)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs104894718
|
GRCh38 |
Chromosome 19, 35033654: 35033654 |
7 |
SCN9A
|
NM_002977.3(SCN9A): c.2159T> A (p.Ile720Lys)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs200945460
|
GRCh37 |
Chromosome 2, 167137018: 167137018 |
8 |
SCN9A
|
NM_002977.3(SCN9A): c.2159T> A (p.Ile720Lys)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs200945460
|
GRCh38 |
Chromosome 2, 166280508: 166280508 |
9 |
SCN9A
|
NM_002977.3(SCN9A): c.2971G> T (p.Val991Leu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs4369876
|
GRCh37 |
Chromosome 2, 167129256: 167129256 |
10 |
SCN9A
|
NM_002977.3(SCN9A): c.2971G> T (p.Val991Leu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs4369876
|
GRCh38 |
Chromosome 2, 166272746: 166272746 |
11 |
SCN1A
|
NM_001165963.1(SCN1A): c.2292T> C (p.Val764=)
|
single nucleotide variant |
Benign |
rs6432860
|
GRCh37 |
Chromosome 2, 166897864: 166897864 |
12 |
SCN1A
|
NM_001165963.1(SCN1A): c.2292T> C (p.Val764=)
|
single nucleotide variant |
Benign |
rs6432860
|
GRCh38 |
Chromosome 2, 166041354: 166041354 |
13 |
SCN1A
|
NM_001165963.1(SCN1A): c.3199G> A (p.Ala1067Thr)
|
single nucleotide variant |
Benign |
rs2298771
|
GRCh37 |
Chromosome 2, 166892788: 166892788 |
14 |
SCN1A
|
NM_001165963.1(SCN1A): c.3199G> A (p.Ala1067Thr)
|
single nucleotide variant |
Benign |
rs2298771
|
GRCh38 |
Chromosome 2, 166036278: 166036278 |
15 |
GABRG2
|
NM_000816.3(GABRG2): c.588C> T (p.Asn196=)
|
single nucleotide variant |
Benign |
rs211037
|
GRCh37 |
Chromosome 5, 161528280: 161528280 |
16 |
GABRG2
|
NM_000816.3(GABRG2): c.588C> T (p.Asn196=)
|
single nucleotide variant |
Benign |
rs211037
|
GRCh38 |
Chromosome 5, 162101274: 162101274 |
17 |
SCN1B
|
NM_001037.4(SCN1B): c.40+15G> T
|
single nucleotide variant |
Benign |
rs72556351
|
GRCh37 |
Chromosome 19, 35521779: 35521779 |
18 |
SCN1B
|
NM_001037.4(SCN1B): c.40+15G> T
|
single nucleotide variant |
Benign |
rs72556351
|
GRCh38 |
Chromosome 19, 35030875: 35030875 |
19 |
SCN9A
|
NM_002977.3(SCN9A): c.5723A> G (p.Asp1908Gly)
|
single nucleotide variant |
Benign |
rs3750904
|
GRCh37 |
Chromosome 2, 167055393: 167055393 |
20 |
SCN9A
|
NM_002977.3(SCN9A): c.5723A> G (p.Asp1908Gly)
|
single nucleotide variant |
Benign |
rs3750904
|
GRCh38 |
Chromosome 2, 166198883: 166198883 |
21 |
GABRG2
|
NM_000816.3(GABRG2): c.315C> T (p.Asn105=)
|
single nucleotide variant |
Benign |
rs11135176
|
GRCh37 |
Chromosome 5, 161522556: 161522556 |
22 |
GABRG2
|
NM_000816.3(GABRG2): c.315C> T (p.Asn105=)
|
single nucleotide variant |
Benign |
rs11135176
|
GRCh38 |
Chromosome 5, 162095550: 162095550 |
23 |
GABRG2
|
NM_000816.3(GABRG2): c.354G> A (p.Ala118=)
|
single nucleotide variant |
Benign/Likely benign |
rs61735412
|
GRCh37 |
Chromosome 5, 161524670: 161524670 |
24 |
GABRG2
|
NM_000816.3(GABRG2): c.354G> A (p.Ala118=)
|
single nucleotide variant |
Benign/Likely benign |
rs61735412
|
GRCh38 |
Chromosome 5, 162097664: 162097664 |
25 |
GABRG2
|
NM_000816.3(GABRG2): c.717A> G (p.Gln239=)
|
single nucleotide variant |
Benign/Likely benign |
rs78261481
|
GRCh37 |
Chromosome 5, 161530980: 161530980 |
26 |
GABRG2
|
NM_000816.3(GABRG2): c.717A> G (p.Gln239=)
|
single nucleotide variant |
Benign/Likely benign |
rs78261481
|
GRCh38 |
Chromosome 5, 162103974: 162103974 |
27 |
SCN1B
|
NM_001037.4(SCN1B): c.501T> C (p.Ile167=)
|
single nucleotide variant |
Benign/Likely benign |
rs16969930
|
GRCh37 |
Chromosome 19, 35530073: 35530073 |
28 |
SCN1B
|
NM_001037.4(SCN1B): c.501T> C (p.Ile167=)
|
single nucleotide variant |
Benign/Likely benign |
rs16969930
|
GRCh38 |
Chromosome 19, 35039169: 35039169 |
29 |
SCN9A
|
NM_002977.3(SCN9A): c.1119T> C (p.Ala373=)
|
single nucleotide variant |
Benign |
rs13414203
|
GRCh37 |
Chromosome 2, 167145142: 167145142 |
30 |
SCN9A
|
NM_002977.3(SCN9A): c.1119T> C (p.Ala373=)
|
single nucleotide variant |
Benign |
rs13414203
|
GRCh38 |
Chromosome 2, 166288632: 166288632 |
31 |
SCN9A
|
NM_002977.3(SCN9A): c.1155G> T (p.Val385=)
|
single nucleotide variant |
Benign |
rs58465962
|
GRCh37 |
Chromosome 2, 167145106: 167145106 |
32 |
SCN9A
|
NM_002977.3(SCN9A): c.1155G> T (p.Val385=)
|
single nucleotide variant |
Benign |
rs58465962
|
GRCh38 |
Chromosome 2, 166288596: 166288596 |
33 |
SCN9A
|
NM_002977.3(SCN9A): c.1266A> G (p.Glu422=)
|
single nucleotide variant |
Benign |
rs13402180
|
GRCh37 |
Chromosome 2, 167144995: 167144995 |
34 |
SCN9A
|
NM_002977.3(SCN9A): c.1266A> G (p.Glu422=)
|
single nucleotide variant |
Benign |
rs13402180
|
GRCh38 |
Chromosome 2, 166288485: 166288485 |
35 |
SCN9A
|
NM_002977.3(SCN9A): c.1287T> A (p.Arg429=)
|
single nucleotide variant |
Benign |
rs6747673
|
GRCh37 |
Chromosome 2, 167144974: 167144974 |
36 |
SCN9A
|
NM_002977.3(SCN9A): c.1287T> A (p.Arg429=)
|
single nucleotide variant |
Benign |
rs6747673
|
GRCh38 |
Chromosome 2, 166288464: 166288464 |
37 |
SCN9A
|
NM_002977.3(SCN9A): c.1469G> A (p.Ser490Asn)
|
single nucleotide variant |
Benign/Likely benign |
rs58022607
|
GRCh37 |
Chromosome 2, 167142979: 167142979 |
38 |
SCN9A
|
NM_002977.3(SCN9A): c.1469G> A (p.Ser490Asn)
|
single nucleotide variant |
Benign/Likely benign |
rs58022607
|
GRCh38 |
Chromosome 2, 166286469: 166286469 |
39 |
SCN9A
|
NM_002977.3(SCN9A): c.174G> A (p.Gln58=)
|
single nucleotide variant |
Benign |
rs6432901
|
GRCh37 |
Chromosome 2, 167168093: 167168093 |
40 |
SCN9A
|
NM_002977.3(SCN9A): c.174G> A (p.Gln58=)
|
single nucleotide variant |
Benign |
rs6432901
|
GRCh38 |
Chromosome 2, 166311583: 166311583 |
41 |
SCN9A
|
NM_002977.3(SCN9A): c.2969A> G (p.Tyr990Cys)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs199692186
|
GRCh37 |
Chromosome 2, 167129258: 167129258 |
42 |
SCN9A
|
NM_002977.3(SCN9A): c.2969A> G (p.Tyr990Cys)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs199692186
|
GRCh38 |
Chromosome 2, 166272748: 166272748 |
43 |
SCN9A
|
NM_002977.3(SCN9A): c.3329G> A (p.Arg1110Gln)
|
single nucleotide variant |
Benign/Likely benign |
rs74401238
|
GRCh37 |
Chromosome 2, 167108385: 167108385 |
44 |
SCN9A
|
NM_002977.3(SCN9A): c.3329G> A (p.Arg1110Gln)
|
single nucleotide variant |
Benign/Likely benign |
rs74401238
|
GRCh38 |
Chromosome 2, 166251875: 166251875 |
45 |
SCN9A
|
NM_002977.3(SCN9A): c.3642C> A (p.Ile1214=)
|
single nucleotide variant |
Benign |
rs77144869
|
GRCh37 |
Chromosome 2, 167094730: 167094730 |
46 |
SCN9A
|
NM_002977.3(SCN9A): c.3642C> A (p.Ile1214=)
|
single nucleotide variant |
Benign |
rs77144869
|
GRCh38 |
Chromosome 2, 166238220: 166238220 |
47 |
SCN9A
|
NM_002977.3(SCN9A): c.3734A> G (p.Asn1245Ser)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs141268327
|
GRCh37 |
Chromosome 2, 167094638: 167094638 |
48 |
SCN9A
|
NM_002977.3(SCN9A): c.3734A> G (p.Asn1245Ser)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs141268327
|
GRCh38 |
Chromosome 2, 166238128: 166238128 |
49 |
SCN9A
|
NM_002977.3(SCN9A): c.3769-4A> G
|
single nucleotide variant |
Benign |
rs75230218
|
GRCh37 |
Chromosome 2, 167089976: 167089976 |
50 |
SCN9A
|
NM_002977.3(SCN9A): c.3769-4A> G
|
single nucleotide variant |
Benign |
rs75230218
|
GRCh38 |
Chromosome 2, 166233466: 166233466 |