1 |
KCNQ2
|
NM_172107.3(KCNQ2): c.1545G> C (p.Glu515Asp)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs117067974
|
GRCh37 |
Chromosome 20, 62045527: 62045527 |
2 |
KCNQ2
|
NM_172107.3(KCNQ2): c.1545G> C (p.Glu515Asp)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs117067974
|
GRCh38 |
Chromosome 20, 63414174: 63414174 |
3 |
KCNQ2
|
NM_172107.3(KCNQ2): c.2339A> C (p.Asn780Thr)
|
single nucleotide variant |
Benign |
rs1801475
|
GRCh37 |
Chromosome 20, 62038277: 62038277 |
4 |
KCNQ2
|
NM_172107.3(KCNQ2): c.2339A> C (p.Asn780Thr)
|
single nucleotide variant |
Benign |
rs1801475
|
GRCh38 |
Chromosome 20, 63406924: 63406924 |
5 |
KCNQ2
|
NM_172107.3(KCNQ2): c.794C> T (p.Ala265Val)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs587777219
|
GRCh37 |
Chromosome 20, 62073781: 62073781 |
6 |
KCNQ2
|
NM_172107.3(KCNQ2): c.794C> T (p.Ala265Val)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs587777219
|
GRCh38 |
Chromosome 20, 63442428: 63442428 |
7 |
KCNQ2
|
NM_172107.3(KCNQ2): c.1348G> A (p.Val450Met)
|
single nucleotide variant |
Likely benign |
rs146492238
|
GRCh37 |
Chromosome 20, 62046433: 62046433 |
8 |
KCNQ2
|
NM_172107.3(KCNQ2): c.1348G> A (p.Val450Met)
|
single nucleotide variant |
Likely benign |
rs146492238
|
GRCh38 |
Chromosome 20, 63415080: 63415080 |
9 |
KCNQ2
|
NM_172107.3(KCNQ2): c.1503C> G (p.Ala501=)
|
single nucleotide variant |
Benign |
rs1801545
|
GRCh37 |
Chromosome 20, 62046278: 62046278 |
10 |
KCNQ2
|
NM_172107.3(KCNQ2): c.1503C> G (p.Ala501=)
|
single nucleotide variant |
Benign |
rs1801545
|
GRCh38 |
Chromosome 20, 63414925: 63414925 |
11 |
KCNQ2
|
NM_172107.3(KCNQ2): c.1719C> T (p.Ala573=)
|
single nucleotide variant |
Benign/Likely benign |
rs61737409
|
GRCh37 |
Chromosome 20, 62044847: 62044847 |
12 |
KCNQ2
|
NM_172107.3(KCNQ2): c.1719C> T (p.Ala573=)
|
single nucleotide variant |
Benign/Likely benign |
rs61737409
|
GRCh38 |
Chromosome 20, 63413494: 63413494 |
13 |
KCNQ2
|
NM_172107.3(KCNQ2): c.2031G> A (p.Arg677=)
|
single nucleotide variant |
Benign/Likely benign |
rs35647984
|
GRCh37 |
Chromosome 20, 62038585: 62038585 |
14 |
KCNQ2
|
NM_172107.3(KCNQ2): c.2031G> A (p.Arg677=)
|
single nucleotide variant |
Benign/Likely benign |
rs35647984
|
GRCh38 |
Chromosome 20, 63407232: 63407232 |
15 |
KCNQ2
|
NM_172107.3(KCNQ2): c.2235G> A (p.Pro745=)
|
single nucleotide variant |
Benign |
rs139587368
|
GRCh37 |
Chromosome 20, 62038381: 62038381 |
16 |
KCNQ2
|
NM_172107.3(KCNQ2): c.2235G> A (p.Pro745=)
|
single nucleotide variant |
Benign |
rs139587368
|
GRCh38 |
Chromosome 20, 63407028: 63407028 |
17 |
KCNQ2
|
NM_172107.3(KCNQ2): c.2238T> A (p.Pro746=)
|
single nucleotide variant |
Benign |
rs1801471
|
GRCh37 |
Chromosome 20, 62038378: 62038378 |
18 |
KCNQ2
|
NM_172107.3(KCNQ2): c.2238T> A (p.Pro746=)
|
single nucleotide variant |
Benign |
rs1801471
|
GRCh38 |
Chromosome 20, 63407025: 63407025 |
19 |
KCNQ2
|
NM_172107.3(KCNQ2): c.714C> T (p.Ile238=)
|
single nucleotide variant |
Benign |
rs147882199
|
GRCh37 |
Chromosome 20, 62073861: 62073861 |
20 |
KCNQ2
|
NM_172107.3(KCNQ2): c.714C> T (p.Ile238=)
|
single nucleotide variant |
Benign |
rs147882199
|
GRCh38 |
Chromosome 20, 63442508: 63442508 |
21 |
KCNQ2
|
NM_172107.3(KCNQ2): c.912C> T (p.Phe304=)
|
single nucleotide variant |
Benign |
rs2297385
|
GRCh37 |
Chromosome 20, 62070966: 62070966 |
22 |
KCNQ2
|
NM_172107.3(KCNQ2): c.912C> T (p.Phe304=)
|
single nucleotide variant |
Benign |
rs2297385
|
GRCh38 |
Chromosome 20, 63439613: 63439613 |
23 |
KCNQ2
|
NM_172107.3(KCNQ2): c.754T> C (p.Leu252=)
|
single nucleotide variant |
Benign/Likely benign |
rs370174915
|
GRCh37 |
Chromosome 20, 62073821: 62073821 |
24 |
KCNQ2
|
NM_172107.3(KCNQ2): c.754T> C (p.Leu252=)
|
single nucleotide variant |
Benign/Likely benign |
rs370174915
|
GRCh38 |
Chromosome 20, 63442468: 63442468 |
25 |
KCNQ2
|
NM_172107.3(KCNQ2): c.888C> T (p.Thr296=)
|
single nucleotide variant |
Benign/Likely benign |
rs370760854
|
GRCh37 |
Chromosome 20, 62070990: 62070990 |
26 |
KCNQ2
|
NM_172107.3(KCNQ2): c.888C> T (p.Thr296=)
|
single nucleotide variant |
Benign/Likely benign |
rs370760854
|
GRCh38 |
Chromosome 20, 63439637: 63439637 |
27 |
KCNQ2
|
NM_172107.3(KCNQ2): c.1458C> T (p.Phe486=)
|
single nucleotide variant |
Benign/Likely benign |
rs141951341
|
GRCh37 |
Chromosome 20, 62046323: 62046323 |
28 |
KCNQ2
|
NM_172107.3(KCNQ2): c.1458C> T (p.Phe486=)
|
single nucleotide variant |
Benign/Likely benign |
rs141951341
|
GRCh38 |
Chromosome 20, 63414970: 63414970 |
29 |
KCNQ2
|
NM_172107.3(KCNQ2): c.1689C> T (p.Asp563=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs35450031
|
GRCh37 |
Chromosome 20, 62044877: 62044877 |
30 |
KCNQ2
|
NM_172107.3(KCNQ2): c.1689C> T (p.Asp563=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs35450031
|
GRCh38 |
Chromosome 20, 63413524: 63413524 |
31 |
KCNQ2
|
NM_172107.3(KCNQ2): c.1827C> T (p.Ala609=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs369438374
|
GRCh37 |
Chromosome 20, 62039826: 62039826 |
32 |
KCNQ2
|
NM_172107.3(KCNQ2): c.1827C> T (p.Ala609=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs369438374
|
GRCh38 |
Chromosome 20, 63408473: 63408473 |
33 |
KCNQ2
|
NM_172107.3(KCNQ2): c.2106G> A (p.Ser702=)
|
single nucleotide variant |
Benign/Likely benign |
rs187252584
|
GRCh37 |
Chromosome 20, 62038510: 62038510 |
34 |
KCNQ2
|
NM_172107.3(KCNQ2): c.2106G> A (p.Ser702=)
|
single nucleotide variant |
Benign/Likely benign |
rs187252584
|
GRCh38 |
Chromosome 20, 63407157: 63407157 |
35 |
KCNQ2
|
NM_172107.3(KCNQ2): c.2529C> T (p.Ser843=)
|
single nucleotide variant |
Benign/Likely benign |
rs140674819
|
GRCh37 |
Chromosome 20, 62038087: 62038087 |
36 |
KCNQ2
|
NM_172107.3(KCNQ2): c.2529C> T (p.Ser843=)
|
single nucleotide variant |
Benign/Likely benign |
rs140674819
|
GRCh38 |
Chromosome 20, 63406734: 63406734 |
37 |
KCNQ2
|
NM_172107.3(KCNQ2): c.2544G> A (p.Pro848=)
|
single nucleotide variant |
Benign/Likely benign |
rs147274045
|
GRCh37 |
Chromosome 20, 62038072: 62038072 |
38 |
KCNQ2
|
NM_172107.3(KCNQ2): c.2544G> A (p.Pro848=)
|
single nucleotide variant |
Benign/Likely benign |
rs147274045
|
GRCh38 |
Chromosome 20, 63406719: 63406719 |
39 |
KCNQ2
|
NM_172107.3(KCNQ2): c.2556G> A (p.Pro852=)
|
single nucleotide variant |
Benign/Likely benign |
rs3810472
|
GRCh37 |
Chromosome 20, 62038060: 62038060 |
40 |
KCNQ2
|
NM_172107.3(KCNQ2): c.2556G> A (p.Pro852=)
|
single nucleotide variant |
Benign/Likely benign |
rs3810472
|
GRCh38 |
Chromosome 20, 63406707: 63406707 |
41 |
KCNQ2
|
NM_172109.2(KCNQ2): c.-42G> T
|
single nucleotide variant |
Likely benign |
rs577705653
|
GRCh37 |
Chromosome 20, 62103858: 62103858 |
42 |
KCNQ2
|
NM_172109.2(KCNQ2): c.-42G> T
|
single nucleotide variant |
Likely benign |
rs577705653
|
GRCh38 |
Chromosome 20, 63472505: 63472505 |
43 |
KCNQ2
|
NM_172107.3(KCNQ2): c.-11C> T
|
single nucleotide variant |
Benign/Likely benign |
rs182089624
|
GRCh38 |
Chromosome 20, 63472474: 63472474 |
44 |
KCNQ2
|
NM_172107.3(KCNQ2): c.-11C> T
|
single nucleotide variant |
Benign/Likely benign |
rs182089624
|
GRCh37 |
Chromosome 20, 62103827: 62103827 |
45 |
KCNQ2
|
NM_172107.3(KCNQ2): c.81G> A (p.Leu27=)
|
single nucleotide variant |
Benign/Likely benign |
rs373897282
|
GRCh37 |
Chromosome 20, 62103736: 62103736 |
46 |
KCNQ2
|
NM_172107.3(KCNQ2): c.81G> A (p.Leu27=)
|
single nucleotide variant |
Benign/Likely benign |
rs373897282
|
GRCh38 |
Chromosome 20, 63472383: 63472383 |
47 |
KCNQ2
|
NM_172107.3(KCNQ2): c.*4G> A
|
single nucleotide variant |
Benign/Likely benign |
rs1801508
|
GRCh37 |
Chromosome 20, 62037993: 62037993 |
48 |
KCNQ2
|
NM_172107.3(KCNQ2): c.*4G> A
|
single nucleotide variant |
Benign/Likely benign |
rs1801508
|
GRCh38 |
Chromosome 20, 63406640: 63406640 |
49 |
KCNQ2
|
NM_172107.3(KCNQ2): c.2065A> C (p.Ile689Leu)
|
single nucleotide variant |
Benign/Likely benign |
rs201701585
|
GRCh38 |
Chromosome 20, 63407198: 63407198 |
50 |
KCNQ2
|
NM_172107.3(KCNQ2): c.2065A> C (p.Ile689Leu)
|
single nucleotide variant |
Benign/Likely benign |
rs201701585
|
GRCh37 |
Chromosome 20, 62038551: 62038551 |