1 |
SCN5A |
NM_000335.5(SCN5A):c.4865G>A (p.Arg1622Gln) |
SNV |
Pathogenic
|
9376 |
rs137854600 |
GRCh37: 3:38592995-38592995 GRCh38: 3:38551504-38551504 |
2 |
SCN5A |
NM_000335.5(SCN5A):c.5382_5384dup (p.Tyr1794_Glu1795insAsp) |
DUP |
Pathogenic
|
9382 |
rs397514449 |
GRCh37: 3:38592475-38592476 GRCh38: 3:38550984-38550985 |
3 |
LOC110121269, SCN5A |
NM_000335.5(SCN5A):c.2821_2822delinsAA (p.Ser941Asn) |
INDEL |
Pathogenic
|
9384 |
rs137854605 |
GRCh37: 3:38622828-38622829 GRCh38: 3:38581337-38581338 |
4 |
LOC110121269, SCN5A |
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) |
SNV |
Pathogenic
|
9388 |
rs137854609 |
GRCh37: 3:38622661-38622661 GRCh38: 3:38581170-38581170 |
5 |
SCN5A |
NM_000335.5(SCN5A):c.5293A>T (p.Met1765Leu) |
SNV |
Pathogenic
|
446418 |
rs199473310 |
GRCh37: 3:38592567-38592567 GRCh38: 3:38551076-38551076 |
6 |
SCN5A |
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) |
SNV |
Pathogenic
Pathogenic
|
39444 |
rs45546039 |
GRCh37: 3:38655272-38655272 GRCh38: 3:38613781-38613781 |
7 |
SCN5A |
NM_000335.5(SCN5A):c.2482C>G (p.Leu828Val) |
SNV |
Pathogenic
|
978725 |
rs794728929 |
GRCh37: 3:38627487-38627487 GRCh38: 3:38585996-38585996 |
8 |
SCN5A |
NM_000335.5(SCN5A):c.4242+1G>C |
SNV |
Pathogenic
|
201508 |
rs794728879 |
GRCh37: 3:38601637-38601637 GRCh38: 3:38560146-38560146 |
9 |
SCN5A |
NM_000335.5(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del) |
DEL |
Pathogenic
|
201571 |
rs397514251 |
GRCh37: 3:38597162-38597170 GRCh38: 3:38555671-38555679 |
10 |
SCN5A |
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His) |
SNV |
Pathogenic
|
9369 |
rs28937316 |
GRCh37: 3:38592932-38592932 GRCh38: 3:38551441-38551441 |
11 |
SCN5A |
NM_000335.5(SCN5A):c.3971A>G (p.Asn1324Ser) |
SNV |
Pathogenic
|
9370 |
rs28937317 |
GRCh37: 3:38601909-38601909 GRCh38: 3:38560418-38560418 |
12 |
SCN5A |
NM_000335.5(SCN5A):c.5381A>G (p.Tyr1794Cys) |
SNV |
Pathogenic
|
9375 |
rs137854614 |
GRCh37: 3:38592479-38592479 GRCh38: 3:38550988-38550988 |
13 |
SCN5A |
NM_000335.5(SCN5A):c.5474G>A (p.Arg1825His) |
SNV |
Pathogenic
|
9389 |
rs137854610 |
GRCh37: 3:38592386-38592386 GRCh38: 3:38550895-38550895 |
14 |
SCN5A |
NM_000335.5(SCN5A):c.1231G>A (p.Val411Met) |
SNV |
Pathogenic
|
67651 |
rs72549410 |
GRCh37: 3:38647549-38647549 GRCh38: 3:38606058-38606058 |
15 |
SCN5A |
NM_000335.5(SCN5A):c.5690G>A (p.Arg1897His) |
SNV |
Pathogenic
|
207974 |
rs370694515 |
GRCh37: 3:38592170-38592170 GRCh38: 3:38550679-38550679 |
16 |
SCN5A |
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) |
SNV |
Pathogenic
|
9374 |
rs137854613 |
GRCh37: 3:38592996-38592996 GRCh38: 3:38551505-38551505 |
17 |
SCN5A |
NM_000335.5(SCN5A):c.5869C>T (p.Arg1957Ter) |
SNV |
Pathogenic
|
201546 |
rs757532106 |
GRCh37: 3:38591991-38591991 GRCh38: 3:38550500-38550500 |
18 |
SCN5A |
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys) |
SNV |
Pathogenic
|
67633 |
rs199473097 |
GRCh37: 3:38648201-38648201 GRCh38: 3:38606710-38606710 |
19 |
SCN5A |
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) |
SNV |
Pathogenic
|
9401 |
rs137854618 |
GRCh37: 3:38607917-38607917 GRCh38: 3:38566426-38566426 |
20 |
SCN5A |
NM_000335.5(SCN5A):c.5299A>G (p.Ile1767Val) |
SNV |
Pathogenic
|
67980 |
rs199473311 |
GRCh37: 3:38592561-38592561 GRCh38: 3:38551070-38551070 |
21 |
SCN5A |
NM_000335.5(SCN5A):c.1604G>A (p.Arg535Gln) |
SNV |
Pathogenic
|
67672 |
rs199473121 |
GRCh37: 3:38645489-38645489 GRCh38: 3:38603998-38603998 |
22 |
SCN5A |
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp) |
SNV |
Pathogenic
|
68032 |
rs199473072 |
GRCh37: 3:38655264-38655264 GRCh38: 3:38613773-38613773 |
23 |
SCN5A |
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) |
SNV |
Pathogenic
|
67838 |
rs199473220 |
GRCh37: 3:38603913-38603913 GRCh38: 3:38562422-38562422 |
24 |
SCN5A |
NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter) |
SNV |
Pathogenic
|
201438 |
rs794728849 |
GRCh37: 3:38655273-38655273 GRCh38: 3:38613782-38613782 |
25 |
SCN5A |
NM_001099404.2(SCN5A):c.615T>G (p.Tyr205Ter) |
SNV |
Pathogenic
|
587531 |
rs765669597 |
GRCh37: 3:38655554-38655554 GRCh38: 3:38614063-38614063 |
26 |
SCN5A |
NM_000335.5(SCN5A):c.1338+2T>A |
SNV |
Pathogenic
|
189324 |
rs786204839 |
GRCh37: 3:38647440-38647440 GRCh38: 3:38605949-38605949 |
27 |
SCN5A |
NM_000335.5(SCN5A):c.127C>T (p.Arg43Ter) |
SNV |
Pathogenic
|
924596 |
rs1553607597 |
GRCh37: 3:38674672-38674672 GRCh38: 3:38633181-38633181 |
28 |
SCN5A |
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) |
MICROSAT |
Pathogenic/Likely Pathogenic
|
201572 |
rs749697698 |
GRCh37: 3:38593011-38593013 GRCh38: 3:38551520-38551522 |
29 |
SCN5A |
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) |
SNV |
Pathogenic/Likely Pathogenic
|
9377 |
rs137854601 |
GRCh37: 3:38592513-38592513 GRCh38: 3:38551022-38551022 |
30 |
SCN5A |
NM_000335.5(SCN5A):c.1567C>T (p.Arg523Cys) |
SNV |
Likely Pathogenic
|
67667 |
rs199473119 |
GRCh37: 3:38645526-38645526 GRCh38: 3:38604035-38604035 |
31 |
SCN5A |
NM_000335.5(SCN5A):c.4865G>T (p.Arg1622Leu) |
SNV |
Likely Pathogenic
|
67933 |
rs137854600 |
GRCh37: 3:38592995-38592995 GRCh38: 3:38551504-38551504 |
32 |
SCN5A |
NM_000335.5(SCN5A):c.3944G>T (p.Arg1315Leu) |
SNV |
Likely Pathogenic
|
216840 |
rs765907469 |
GRCh37: 3:38603922-38603922 GRCh38: 3:38562431-38562431 |
33 |
SCN5A |
NM_000335.5(SCN5A):c.4780G>C (p.Asp1594His) |
SNV |
Likely Pathogenic
|
9406 |
rs137854607 |
GRCh37: 3:38595800-38595800 GRCh38: 3:38554309-38554309 |
34 |
SCN5A |
NM_000335.5(SCN5A):c.2335del (p.Gln779fs) |
DEL |
Likely Pathogenic
|
979075 |
rs2061687300 |
GRCh37: 3:38628992-38628992 GRCh38: 3:38587501-38587501 |
35 |
SCN5A |
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) |
SNV |
Likely Pathogenic
|
67835 |
rs199473603 |
GRCh37: 3:38603958-38603958 GRCh38: 3:38562467-38562467 |
36 |
SCN5A |
NM_000335.5(SCN5A):c.4883G>A (p.Arg1628Gln) |
SNV |
Likely Pathogenic
|
67937 |
rs199473623 |
GRCh37: 3:38592977-38592977 GRCh38: 3:38551486-38551486 |
37 |
SCN5A |
NM_000335.5(SCN5A):c.5354T>C (p.Leu1785Pro) |
SNV |
Likely Pathogenic
|
692258 |
rs199473315 |
GRCh37: 3:38592506-38592506 GRCh38: 3:38551015-38551015 |
38 |
SCN5A |
NM_000335.5(SCN5A):c.4460C>A (p.Thr1487Lys) |
SNV |
Likely Pathogenic
|
637991 |
rs199473259 |
GRCh37: 3:38597226-38597226 GRCh38: 3:38555735-38555735 |
39 |
SCN5A |
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg) |
SNV |
Likely Pathogenic
|
67898 |
rs199473260 |
GRCh37: 3:38597211-38597211 GRCh38: 3:38555720-38555720 |
40 |
SCN5A |
NM_000335.5(SCN5A):c.674G>A (p.Arg225Gln) |
SNV |
Likely Pathogenic
|
68033 |
rs199473071 |
GRCh37: 3:38655263-38655263 GRCh38: 3:38613772-38613772 |
41 |
SCN5A |
NM_000335.5(SCN5A):c.6043G>A (p.Val2015Met) |
SNV |
Likely Pathogenic
Uncertain Significance
|
201549 |
rs762981322 |
GRCh37: 3:38591817-38591817 GRCh38: 3:38550326-38550326 |
42 |
SCN5A |
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) |
SNV |
Likely Pathogenic
|
67939 |
rs199473286 |
GRCh37: 3:38592968-38592968 GRCh38: 3:38551477-38551477 |
43 |
SCN5A |
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln) |
SNV |
Likely Pathogenic
|
67732 |
rs199473584 |
GRCh37: 3:38627528-38627528 GRCh38: 3:38586037-38586037 |
44 |
LOC110121269, SCN5A |
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys) |
SNV |
Likely Pathogenic
|
9400 |
rs137854617 |
GRCh37: 3:38622493-38622493 GRCh38: 3:38581002-38581002 |
45 |
SCN5A |
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val) |
SNV |
Likely Pathogenic
|
67904 |
rs199473266 |
GRCh37: 3:38597188-38597188 GRCh38: 3:38555697-38555697 |
46 |
SCN5A |
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
67934 |
rs199473283 |
GRCh37: 3:38592986-38592986 GRCh38: 3:38551495-38551495 |
47 |
SCN5A |
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) |
SNV |
Conflicting Interpretations Of Pathogenicity
Uncertain Significance
|
67712 |
rs45553235 |
GRCh37: 3:38639408-38639408 GRCh38: 3:38597917-38597917 |
48 |
SCN5A |
NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala) |
SNV |
Uncertain Significance
|
68024 |
rs45489199 |
GRCh37: 3:38591847-38591847 GRCh38: 3:38550356-38550356 |
49 |
SCN5A |
NM_000335.5(SCN5A):c.5689C>T (p.Arg1897Cys) |
SNV |
Uncertain Significance
|
518750 |
rs373118001 |
GRCh37: 3:38592171-38592171 GRCh38: 3:38550680-38550680 |
50 |
LOC110121269, SCN5A |
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg) |
SNV |
Uncertain Significance
|
67769 |
rs199473182 |
GRCh37: 3:38622706-38622706 GRCh38: 3:38581215-38581215 |