1 |
KCNQ1
|
NM_000218.2(KCNQ1): c.919G> C (p.Val307Leu)
|
single nucleotide variant |
Pathogenic |
rs120074195
|
GRCh37 |
Chromosome 11, 2594214: 2594214 |
2 |
KCNQ1
|
NM_000218.2(KCNQ1): c.919G> C (p.Val307Leu)
|
single nucleotide variant |
Pathogenic |
rs120074195
|
GRCh38 |
Chromosome 11, 2572984: 2572984 |
3 |
KCNJ2
|
NM_000891.2(KCNJ2): c.514G> A (p.Asp172Asn)
|
single nucleotide variant |
Pathogenic |
rs104894584
|
GRCh37 |
Chromosome 17, 68171694: 68171694 |
4 |
KCNJ2
|
NM_000891.2(KCNJ2): c.514G> A (p.Asp172Asn)
|
single nucleotide variant |
Pathogenic |
rs104894584
|
GRCh38 |
Chromosome 17, 70175553: 70175553 |
5 |
KCNH2
|
NM_000238.3(KCNH2): c.1764C> G (p.Asn588Lys)
|
single nucleotide variant |
Pathogenic |
rs104894021
|
GRCh37 |
Chromosome 7, 150648717: 150648717 |
6 |
KCNH2
|
NM_000238.3(KCNH2): c.1764C> G (p.Asn588Lys)
|
single nucleotide variant |
Pathogenic |
rs104894021
|
GRCh38 |
Chromosome 7, 150951629: 150951629 |
7 |
KCNH2
|
NM_000238.3(KCNH2): c.1764C> A (p.Asn588Lys)
|
single nucleotide variant |
Pathogenic |
rs104894021
|
GRCh37 |
Chromosome 7, 150648717: 150648717 |
8 |
KCNH2
|
NM_000238.3(KCNH2): c.1764C> A (p.Asn588Lys)
|
single nucleotide variant |
Pathogenic |
rs104894021
|
GRCh38 |
Chromosome 7, 150951629: 150951629 |
9 |
KCNJ2
|
NM_000891.2(KCNJ2): c.660C> T (p.Ser220=)
|
single nucleotide variant |
Benign |
rs7221086
|
GRCh37 |
Chromosome 17, 68171840: 68171840 |
10 |
KCNJ2
|
NM_000891.2(KCNJ2): c.660C> T (p.Ser220=)
|
single nucleotide variant |
Benign |
rs7221086
|
GRCh38 |
Chromosome 17, 70175699: 70175699 |
11 |
KCNQ1
|
NM_000218.2(KCNQ1): c.1590+14T> C
|
single nucleotide variant |
Benign/Likely benign |
rs11024034
|
GRCh37 |
Chromosome 11, 2790163: 2790163 |
12 |
KCNQ1
|
NM_000218.2(KCNQ1): c.1590+14T> C
|
single nucleotide variant |
Benign/Likely benign |
rs11024034
|
GRCh38 |
Chromosome 11, 2768933: 2768933 |
13 |
KCNQ1
|
NM_000218.2(KCNQ1): c.1927G> A (p.Gly643Ser)
|
single nucleotide variant |
Benign/Likely benign |
rs1800172
|
GRCh37 |
Chromosome 11, 2869129: 2869129 |
14 |
KCNQ1
|
NM_000218.2(KCNQ1): c.1927G> A (p.Gly643Ser)
|
single nucleotide variant |
Benign/Likely benign |
rs1800172
|
GRCh38 |
Chromosome 11, 2847899: 2847899 |
15 |
KCNQ1
|
NM_000218.2(KCNQ1): c.1942G> A (p.Val648Ile)
|
single nucleotide variant |
Benign/Likely benign |
rs34150427
|
GRCh37 |
Chromosome 11, 2869144: 2869144 |
16 |
KCNQ1
|
NM_000218.2(KCNQ1): c.1942G> A (p.Val648Ile)
|
single nucleotide variant |
Benign/Likely benign |
rs34150427
|
GRCh38 |
Chromosome 11, 2847914: 2847914 |
17 |
KCNQ1
|
NM_000218.2(KCNQ1): c.1222C> G (p.Pro408Ala)
|
single nucleotide variant |
Benign/Likely benign |
rs28730756
|
GRCh37 |
Chromosome 11, 2608893: 2608893 |
18 |
KCNQ1
|
NM_000218.2(KCNQ1): c.1222C> G (p.Pro408Ala)
|
single nucleotide variant |
Benign/Likely benign |
rs28730756
|
GRCh38 |
Chromosome 11, 2587663: 2587663 |
19 |
KCNQ1
|
NM_000218.2(KCNQ1): c.1394-14C> T
|
single nucleotide variant |
Benign/Likely benign |
rs28730758
|
GRCh37 |
Chromosome 11, 2683177: 2683177 |
20 |
KCNQ1
|
NM_000218.2(KCNQ1): c.1394-14C> T
|
single nucleotide variant |
Benign/Likely benign |
rs28730758
|
GRCh38 |
Chromosome 11, 2661947: 2661947 |
21 |
KCNQ1
|
NM_000218.2(KCNQ1): c.1455C> T (p.Phe485=)
|
single nucleotide variant |
Benign/Likely benign |
rs17215465
|
GRCh37 |
Chromosome 11, 2683252: 2683252 |
22 |
KCNQ1
|
NM_000218.2(KCNQ1): c.1455C> T (p.Phe485=)
|
single nucleotide variant |
Benign/Likely benign |
rs17215465
|
GRCh38 |
Chromosome 11, 2662022: 2662022 |
23 |
KCNQ1
|
NM_000218.2(KCNQ1): c.1638G> A (p.Ser546=)
|
single nucleotide variant |
Benign |
rs1057128
|
GRCh37 |
Chromosome 11, 2797237: 2797237 |
24 |
KCNQ1
|
NM_000218.2(KCNQ1): c.1638G> A (p.Ser546=)
|
single nucleotide variant |
Benign |
rs1057128
|
GRCh38 |
Chromosome 11, 2776007: 2776007 |
25 |
KCNQ1
|
NM_000218.2(KCNQ1): c.1986C> T (p.Tyr662=)
|
single nucleotide variant |
Benign |
rs11601907
|
GRCh37 |
Chromosome 11, 2869188: 2869188 |
26 |
KCNQ1
|
NM_000218.2(KCNQ1): c.1986C> T (p.Tyr662=)
|
single nucleotide variant |
Benign |
rs11601907
|
GRCh38 |
Chromosome 11, 2847958: 2847958 |
27 |
KCNQ1
|
NM_000218.2(KCNQ1): c.478-10G> A
|
single nucleotide variant |
Benign |
rs28730752
|
GRCh37 |
Chromosome 11, 2591848: 2591848 |
28 |
KCNQ1
|
NM_000218.2(KCNQ1): c.478-10G> A
|
single nucleotide variant |
Benign |
rs28730752
|
GRCh38 |
Chromosome 11, 2570618: 2570618 |
29 |
KCNQ1
|
NM_000218.2(KCNQ1): c.478-8C> T
|
single nucleotide variant |
Benign/Likely benign |
rs150711844
|
GRCh37 |
Chromosome 11, 2591850: 2591850 |
30 |
KCNQ1
|
NM_000218.2(KCNQ1): c.478-8C> T
|
single nucleotide variant |
Benign/Likely benign |
rs150711844
|
GRCh38 |
Chromosome 11, 2570620: 2570620 |
31 |
KCNQ1
|
NM_000218.2(KCNQ1): c.720C> T (p.His240=)
|
single nucleotide variant |
Benign/Likely benign |
rs28730754
|
GRCh37 |
Chromosome 11, 2593279: 2593279 |
32 |
KCNQ1
|
NM_000218.2(KCNQ1): c.720C> T (p.His240=)
|
single nucleotide variant |
Benign/Likely benign |
rs28730754
|
GRCh38 |
Chromosome 11, 2572049: 2572049 |
33 |
KCNQ1
|
NM_000218.2(KCNQ1): c.1189C> T (p.Arg397Trp)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs199472776
|
GRCh37 |
Chromosome 11, 2608860: 2608860 |
34 |
KCNQ1
|
NM_000218.2(KCNQ1): c.1189C> T (p.Arg397Trp)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs199472776
|
GRCh38 |
Chromosome 11, 2587630: 2587630 |
35 |
KCNQ1
|
NM_000218.2(KCNQ1): c.1179G> T (p.Lys393Asn)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs12720457
|
GRCh37 |
Chromosome 11, 2608850: 2608850 |
36 |
KCNQ1
|
NM_000218.2(KCNQ1): c.1179G> T (p.Lys393Asn)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs12720457
|
GRCh38 |
Chromosome 11, 2587620: 2587620 |
37 |
KCNQ1
|
NM_000218.2(KCNQ1): c.1355G> A (p.Arg452Gln)
|
single nucleotide variant |
Uncertain significance |
rs145229963
|
GRCh37 |
Chromosome 11, 2610046: 2610046 |
38 |
KCNQ1
|
NM_000218.2(KCNQ1): c.1355G> A (p.Arg452Gln)
|
single nucleotide variant |
Uncertain significance |
rs145229963
|
GRCh38 |
Chromosome 11, 2588816: 2588816 |
39 |
KCNH2
|
NM_000238.3(KCNH2): c.150G> T (p.Glu50Asp)
|
single nucleotide variant |
not provided |
rs199472841
|
GRCh37 |
Chromosome 7, 150671956: 150671956 |
40 |
KCNH2
|
NM_000238.3(KCNH2): c.150G> T (p.Glu50Asp)
|
single nucleotide variant |
not provided |
rs199472841
|
GRCh38 |
Chromosome 7, 150974868: 150974868 |
41 |
KCNH2
|
NM_000238.3(KCNH2): c.1853C> T (p.Thr618Ile)
|
single nucleotide variant |
not provided |
rs199472947
|
GRCh37 |
Chromosome 7, 150648628: 150648628 |
42 |
KCNH2
|
NM_000238.3(KCNH2): c.1853C> T (p.Thr618Ile)
|
single nucleotide variant |
not provided |
rs199472947
|
GRCh38 |
Chromosome 7, 150951540: 150951540 |
43 |
KCNH2
|
NM_000238.3(KCNH2): c.3404G> A (p.Arg1135His)
|
single nucleotide variant |
not provided |
rs199473547
|
GRCh37 |
Chromosome 7, 150642529: 150642529 |
44 |
KCNH2
|
NM_000238.3(KCNH2): c.3404G> A (p.Arg1135His)
|
single nucleotide variant |
not provided |
rs199473547
|
GRCh38 |
Chromosome 7, 150945441: 150945441 |
45 |
CACNA1C
|
NM_000719.6(CACNA1C): c.5918G> A (p.Arg1973Gln)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs112414325
|
GRCh37 |
Chromosome 12, 2797746: 2797746 |
46 |
CACNA1C
|
NM_000719.6(CACNA1C): c.5918G> A (p.Arg1973Gln)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs112414325
|
GRCh38 |
Chromosome 12, 2688580: 2688580 |
47 |
KCNJ2
|
NM_000891.2(KCNJ2): c.1146C> T (p.Leu382=)
|
single nucleotide variant |
Benign |
rs173135
|
GRCh37 |
Chromosome 17, 68172326: 68172326 |
48 |
KCNJ2
|
NM_000891.2(KCNJ2): c.1146C> T (p.Leu382=)
|
single nucleotide variant |
Benign |
rs173135
|
GRCh38 |
Chromosome 17, 70176185: 70176185 |
49 |
KCNQ1
|
NM_000218.2(KCNQ1): c.1394-8C> T
|
single nucleotide variant |
Benign/Likely benign |
rs371488379
|
GRCh38 |
Chromosome 11, 2661953: 2661953 |
50 |
KCNQ1
|
NM_000218.2(KCNQ1): c.1394-8C> T
|
single nucleotide variant |
Benign/Likely benign |
rs371488379
|
GRCh37 |
Chromosome 11, 2683183: 2683183 |