1 |
STXBP2
|
NM_006949.3(STXBP2): c.1430C> T (p.Pro477Leu)
|
single nucleotide variant |
Pathogenic |
rs121918540
|
GRCh37 |
Chromosome 19, 7711208: 7711208 |
2 |
STXBP2
|
NM_006949.3(STXBP2): c.1430C> T (p.Pro477Leu)
|
single nucleotide variant |
Pathogenic |
rs121918540
|
GRCh38 |
Chromosome 19, 7646322: 7646322 |
3 |
STXBP2
|
STXBP2, 3-BP DEL, 693GAT
|
deletion |
Pathogenic |
|
|
|
4 |
STXBP2
|
STXBP2, IVS14AS, G-C, -1
|
single nucleotide variant |
Pathogenic |
|
|
|
5 |
STXBP2
|
NM_006949.3(STXBP2): c.626T> C (p.Leu209Pro)
|
single nucleotide variant |
Pathogenic |
rs121918541
|
GRCh37 |
Chromosome 19, 7706967: 7706967 |
6 |
STXBP2
|
NM_006949.3(STXBP2): c.626T> C (p.Leu209Pro)
|
single nucleotide variant |
Pathogenic |
rs121918541
|
GRCh38 |
Chromosome 19, 7642081: 7642081 |
7 |
STXBP2
|
STXBP2, 1-BP DEL, 260T
|
deletion |
Pathogenic |
|
|
|
8 |
STXBP2
|
STXBP2, 1-BP DEL, 706G
|
deletion |
Pathogenic |
|
|
|
9 |
STXBP2
|
NM_006949.3(STXBP2): c.1621G> A (p.Gly541Ser)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs61736587
|
GRCh37 |
Chromosome 19, 7712322: 7712322 |
10 |
STXBP2
|
NM_006949.3(STXBP2): c.1621G> A (p.Gly541Ser)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs61736587
|
GRCh38 |
Chromosome 19, 7647436: 7647436 |
11 |
STXBP2
|
NM_006949.3(STXBP2): c.795-4C> T
|
single nucleotide variant |
Benign/Likely benign |
rs151257815
|
GRCh37 |
Chromosome 19, 7707311: 7707311 |
12 |
STXBP2
|
NM_006949.3(STXBP2): c.795-4C> T
|
single nucleotide variant |
Benign/Likely benign |
rs151257815
|
GRCh38 |
Chromosome 19, 7642425: 7642425 |
13 |
STXBP2
|
NM_006949.3(STXBP2): c.1034C> T (p.Thr345Met)
|
single nucleotide variant |
Benign/Likely benign |
rs117761837
|
GRCh37 |
Chromosome 19, 7708058: 7708058 |
14 |
STXBP2
|
NM_006949.3(STXBP2): c.1034C> T (p.Thr345Met)
|
single nucleotide variant |
Benign/Likely benign |
rs117761837
|
GRCh38 |
Chromosome 19, 7643172: 7643172 |
15 |
STXBP2
|
NM_006949.3(STXBP2): c.1298C> T (p.Ala433Val)
|
single nucleotide variant |
Benign/Likely benign |
rs141309384
|
GRCh37 |
Chromosome 19, 7710134: 7710134 |
16 |
STXBP2
|
NM_006949.3(STXBP2): c.1298C> T (p.Ala433Val)
|
single nucleotide variant |
Benign/Likely benign |
rs141309384
|
GRCh38 |
Chromosome 19, 7645248: 7645248 |
17 |
STXBP2
|
NM_006949.3(STXBP2): c.49G> A (p.Gly17Arg)
|
single nucleotide variant |
Benign/Likely benign |
rs146165014
|
GRCh38 |
Chromosome 19, 7638737: 7638737 |
18 |
STXBP2
|
NM_006949.3(STXBP2): c.49G> A (p.Gly17Arg)
|
single nucleotide variant |
Benign/Likely benign |
rs146165014
|
GRCh37 |
Chromosome 19, 7703623: 7703623 |
19 |
STXBP2
|
NM_006949.3(STXBP2): c.495C> T (p.Arg165=)
|
single nucleotide variant |
Benign/Likely benign |
rs2303116
|
GRCh38 |
Chromosome 19, 7641770: 7641770 |
20 |
STXBP2
|
NM_006949.3(STXBP2): c.495C> T (p.Arg165=)
|
single nucleotide variant |
Benign/Likely benign |
rs2303116
|
GRCh37 |
Chromosome 19, 7706656: 7706656 |
21 |
STXBP2
|
NM_006949.3(STXBP2): c.609C> T (p.His203=)
|
single nucleotide variant |
Benign/Likely benign |
rs113694233
|
GRCh38 |
Chromosome 19, 7642064: 7642064 |
22 |
STXBP2
|
NM_006949.3(STXBP2): c.609C> T (p.His203=)
|
single nucleotide variant |
Benign/Likely benign |
rs113694233
|
GRCh37 |
Chromosome 19, 7706950: 7706950 |
23 |
STXBP2
|
NM_006949.3(STXBP2): c.816C> T (p.Ser272=)
|
single nucleotide variant |
Benign |
rs78010345
|
GRCh38 |
Chromosome 19, 7642450: 7642450 |
24 |
STXBP2
|
NM_006949.3(STXBP2): c.816C> T (p.Ser272=)
|
single nucleotide variant |
Benign |
rs78010345
|
GRCh37 |
Chromosome 19, 7707336: 7707336 |
25 |
STXBP2
|
NM_006949.3(STXBP2): c.849G> A (p.Glu283=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs34450592
|
GRCh38 |
Chromosome 19, 7642483: 7642483 |
26 |
STXBP2
|
NM_006949.3(STXBP2): c.849G> A (p.Glu283=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs34450592
|
GRCh37 |
Chromosome 19, 7707369: 7707369 |
27 |
STXBP2
|
NM_006949.3(STXBP2): c.1167C> T (p.Ile389=)
|
single nucleotide variant |
Benign/Likely benign |
rs139160342
|
GRCh37 |
Chromosome 19, 7709559: 7709559 |
28 |
STXBP2
|
NM_006949.3(STXBP2): c.1167C> T (p.Ile389=)
|
single nucleotide variant |
Benign/Likely benign |
rs139160342
|
GRCh38 |
Chromosome 19, 7644673: 7644673 |
29 |
STXBP2
|
NM_006949.3(STXBP2): c.1191G> A (p.Ala397=)
|
single nucleotide variant |
Benign/Likely benign |
rs76836497
|
GRCh37 |
Chromosome 19, 7709583: 7709583 |
30 |
STXBP2
|
NM_006949.3(STXBP2): c.1191G> A (p.Ala397=)
|
single nucleotide variant |
Benign/Likely benign |
rs76836497
|
GRCh38 |
Chromosome 19, 7644697: 7644697 |
31 |
STXBP2
|
NM_006949.3(STXBP2): c.1247-10C> T
|
single nucleotide variant |
Benign/Likely benign |
rs61407177
|
GRCh38 |
Chromosome 19, 7645187: 7645187 |
32 |
STXBP2
|
NM_006949.3(STXBP2): c.1247-10C> T
|
single nucleotide variant |
Benign/Likely benign |
rs61407177
|
GRCh37 |
Chromosome 19, 7710073: 7710073 |
33 |
STXBP2
|
NM_006949.3(STXBP2): c.1538+10C> T
|
single nucleotide variant |
Benign/Likely benign |
rs139200597
|
GRCh38 |
Chromosome 19, 7647257: 7647257 |
34 |
STXBP2
|
NM_006949.3(STXBP2): c.1538+10C> T
|
single nucleotide variant |
Benign/Likely benign |
rs139200597
|
GRCh37 |
Chromosome 19, 7712143: 7712143 |
35 |
STXBP2
|
NM_006949.3(STXBP2): c.1576A> G (p.Ile526Val)
|
single nucleotide variant |
Benign |
rs6791
|
GRCh38 |
Chromosome 19, 7647391: 7647391 |
36 |
STXBP2
|
NM_006949.3(STXBP2): c.1576A> G (p.Ile526Val)
|
single nucleotide variant |
Benign |
rs6791
|
GRCh37 |
Chromosome 19, 7712277: 7712277 |
37 |
STXBP2
|
NM_006949.3(STXBP2): c.1590G> A (p.Ala530=)
|
single nucleotide variant |
Benign |
rs61736589
|
GRCh38 |
Chromosome 19, 7647405: 7647405 |
38 |
STXBP2
|
NM_006949.3(STXBP2): c.1590G> A (p.Ala530=)
|
single nucleotide variant |
Benign |
rs61736589
|
GRCh37 |
Chromosome 19, 7712291: 7712291 |
39 |
STXBP2
|
NM_006949.3(STXBP2): c.1663A> G (p.Arg555Gly)
|
single nucleotide variant |
Benign |
rs61736586
|
GRCh37 |
Chromosome 19, 7712364: 7712364 |
40 |
STXBP2
|
NM_006949.3(STXBP2): c.1663A> G (p.Arg555Gly)
|
single nucleotide variant |
Benign |
rs61736586
|
GRCh38 |
Chromosome 19, 7647478: 7647478 |
41 |
STXBP2
|
NM_006949.3(STXBP2): c.358C> T (p.Arg120Cys)
|
single nucleotide variant |
Uncertain significance |
rs140745219
|
GRCh37 |
Chromosome 19, 7705818: 7705818 |
42 |
STXBP2
|
NM_006949.3(STXBP2): c.358C> T (p.Arg120Cys)
|
single nucleotide variant |
Uncertain significance |
rs140745219
|
GRCh38 |
Chromosome 19, 7640932: 7640932 |
43 |
STXBP2
|
NM_006949.3(STXBP2): c.1569G> A (p.Lys523=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs148868283
|
GRCh37 |
Chromosome 19, 7712270: 7712270 |
44 |
STXBP2
|
NM_006949.3(STXBP2): c.1569G> A (p.Lys523=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs148868283
|
GRCh38 |
Chromosome 19, 7647384: 7647384 |
45 |
STXBP2
|
NM_006949.3(STXBP2): c.1455C> T (p.Asp485=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs146425381
|
GRCh37 |
Chromosome 19, 7712050: 7712050 |
46 |
STXBP2
|
NM_006949.3(STXBP2): c.1455C> T (p.Asp485=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs146425381
|
GRCh38 |
Chromosome 19, 7647164: 7647164 |
47 |
STXBP2
|
NM_006949.3(STXBP2): c.1586G> C (p.Arg529Pro)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs35490401
|
GRCh37 |
Chromosome 19, 7712287: 7712287 |
48 |
STXBP2
|
NM_006949.3(STXBP2): c.1586G> C (p.Arg529Pro)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs35490401
|
GRCh38 |
Chromosome 19, 7647401: 7647401 |
49 |
STXBP2
|
NM_006949.3(STXBP2): c.613G> A (p.Val205Ile)
|
single nucleotide variant |
Benign/Likely benign |
rs144586070
|
GRCh37 |
Chromosome 19, 7706954: 7706954 |
50 |
STXBP2
|
NM_006949.3(STXBP2): c.613G> A (p.Val205Ile)
|
single nucleotide variant |
Benign/Likely benign |
rs144586070
|
GRCh38 |
Chromosome 19, 7642068: 7642068 |