1 |
KCNJ11 |
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His) |
SNV |
Pathogenic
|
8666 |
rs80356624 |
GRCh37: 11:17409037-17409037 GRCh38: 11:17387490-17387490 |
2 |
KCNJ11 |
NM_000525.4(KCNJ11):c.175G>A (p.Val59Met) |
SNV |
Pathogenic
|
8667 |
rs80356616 |
GRCh37: 11:17409464-17409464 GRCh38: 11:17387917-17387917 |
3 |
KCNJ11 |
NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys) |
SNV |
Pathogenic
|
8668 |
rs80356625 |
GRCh37: 11:17409038-17409038 GRCh38: 11:17387491-17387491 |
4 |
KCNJ11 |
NM_000525.4(KCNJ11):c.510G>C (p.Lys170Asn) |
SNV |
Likely Pathogenic
|
8672 |
rs80356622 |
GRCh37: 11:17409129-17409129 GRCh38: 11:17387582-17387582 |
5 |
ABCC8 |
NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu) |
SNV |
Likely Pathogenic
|
9102 |
rs80356637 |
GRCh37: 11:17491666-17491666 GRCh38: 11:17470119-17470119 |
6 |
INS-IGF2, INS |
NM_000207.3(INS):c.287G>A (p.Cys96Tyr) |
SNV |
Likely Pathogenic
|
13387 |
rs80356671 |
GRCh37: 11:2181128-2181128 GRCh38: 11:2159898-2159898 |
7 |
INS-IGF2, INS |
NM_000207.3(INS):c.143T>G (p.Phe48Cys) |
SNV |
Likely Pathogenic
|
13389 |
rs80356668 |
GRCh37: 11:2182059-2182059 GRCh38: 11:2160829-2160829 |
8 |
ABCC8 |
NM_000352.6(ABCC8):c.674T>C (p.Leu225Pro) |
SNV |
Likely Pathogenic
|
21170 |
rs1048095 |
GRCh37: 11:17483278-17483278 GRCh38: 11:17461731-17461731 |
9 |
KCNJ11 |
NM_000525.4(KCNJ11):c.149G>A (p.Arg50Gln) |
SNV |
Likely Pathogenic
|
36431 |
rs80356611 |
GRCh37: 11:17409490-17409490 GRCh38: 11:17387943-17387943 |
10 |
ABCC8 |
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) |
SNV |
Likely Pathogenic
|
35609 |
rs141322087 |
GRCh37: 11:17426099-17426099 GRCh38: 11:17404552-17404552 |
11 |
ABCC8 |
NM_000352.6(ABCC8):c.3542T>G (p.Phe1181Cys) |
SNV |
Likely Pathogenic
|
35610 |
rs193922399 |
GRCh37: 11:17426074-17426074 GRCh38: 11:17404527-17404527 |
12 |
ABCC8 |
NM_000352.6(ABCC8):c.4368C>G (p.Ile1456Met) |
SNV |
Likely Pathogenic
|
35618 |
rs193922403 |
GRCh37: 11:17416762-17416762 GRCh38: 11:17395215-17395215 |
13 |
INS-IGF2, INS |
NM_000207.3(INS):c.71C>T (p.Ala24Val) |
SNV |
Likely Pathogenic
|
36401 |
rs80356663 |
GRCh37: 11:2182131-2182131 GRCh38: 11:2160901-2160901 |
14 |
ABCC8 |
NM_000352.6(ABCC8):c.4553T>G (p.Ile1518Ser) |
SNV |
Likely Pathogenic
|
35621 |
rs193922406 |
GRCh37: 11:17415299-17415299 GRCh38: 11:17393752-17393752 |
15 |
ABCC8 |
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met) |
SNV |
Likely Pathogenic
|
35623 |
rs193922408 |
GRCh37: 11:17414669-17414669 GRCh38: 11:17393122-17393122 |
16 |
ABCC8 |
NM_000352.6(ABCC8):c.145A>T (p.Ile49Phe) |
SNV |
Likely Pathogenic
|
555848 |
rs1554949196 |
GRCh37: 11:17498179-17498179 GRCh38: 11:17476632-17476632 |
17 |
KCNJ11 |
NM_000525.4(KCNJ11):c.190G>A (p.Val64Met) |
SNV |
Likely Pathogenic
|
1525998 |
|
GRCh37: 11:17409449-17409449 GRCh38: 11:17387902-17387902 |
18 |
KCNJ11 |
NM_000525.4(KCNJ11):c.754G>T (p.Val252Leu) |
SNV |
Likely Pathogenic
|
1525999 |
|
GRCh37: 11:17408885-17408885 GRCh38: 11:17387338-17387338 |
19 |
KCNJ11 |
NM_000525.4(KCNJ11):c.1001G>T (p.Gly334Val) |
SNV |
Likely Pathogenic
|
1526000 |
|
GRCh37: 11:17408638-17408638 GRCh38: 11:17387091-17387091 |
20 |
ABCC8 |
NM_000352.6(ABCC8):c.634G>T (p.Asp212Tyr) |
SNV |
Likely Pathogenic
|
1526001 |
|
GRCh37: 11:17483318-17483318 GRCh38: 11:17461771-17461771 |
21 |
ABCC8 |
NM_000352.6(ABCC8):c.643G>A (p.Val215Ile) |
SNV |
Likely Pathogenic
|
1526002 |
|
GRCh37: 11:17483309-17483309 GRCh38: 11:17461762-17461762 |
22 |
ABCC8 |
NM_000352.6(ABCC8):c.1608T>A (p.Phe536Leu) |
SNV |
Likely Pathogenic
|
1526003 |
|
GRCh37: 11:17464289-17464289 GRCh38: 11:17442742-17442742 |
23 |
KCNJ11 |
NM_000525.4(KCNJ11):c.5T>C (p.Leu2Pro) |
SNV |
Likely Pathogenic
|
36433 |
rs193922565 |
GRCh37: 11:17409634-17409634 GRCh38: 11:17388087-17388087 |
24 |
ABCC8 |
NM_000352.6(ABCC8):c.4136G>T (p.Arg1379Leu) |
SNV |
Likely Pathogenic
|
35615 |
rs193922401 |
GRCh37: 11:17417461-17417461 GRCh38: 11:17395914-17395914 |
25 |
ABCC8 |
NM_000352.6(ABCC8):c.1606T>C (p.Phe536Leu) |
SNV |
Likely Pathogenic
|
35605 |
rs193922396 |
GRCh37: 11:17464291-17464291 GRCh38: 11:17442744-17442744 |
26 |
ABCC8 |
NM_000352.6(ABCC8):c.4564G>A (p.Val1522Met) |
SNV |
Likely Pathogenic
|
35622 |
rs193922407 |
GRCh37: 11:17415288-17415288 GRCh38: 11:17393741-17393741 |
27 |
KCNJ11 |
NM_000525.4(KCNJ11):c.679G>A (p.Glu227Lys) |
SNV |
Likely Pathogenic
|
158682 |
rs587783672 |
GRCh37: 11:17408960-17408960 GRCh38: 11:17387413-17387413 |
28 |
ABCC8 |
NM_000352.6(ABCC8):c.3593C>T (p.Pro1198Leu) |
SNV |
Likely Pathogenic
|
434047 |
rs1554909277 |
GRCh37: 11:17424265-17424265 GRCh38: 11:17402718-17402718 |
29 |
ABCC8 |
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp) |
SNV |
Likely Pathogenic
|
210076 |
rs797045209 |
GRCh37: 11:17426072-17426072 GRCh38: 11:17404525-17404525 |
30 |
ABCC8 |
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys) |
SNV |
Likely Pathogenic
|
35606 |
rs193922397 |
GRCh37: 11:17464281-17464281 GRCh38: 11:17442734-17442734 |
31 |
INS-IGF2, INS |
NM_000207.3(INS):c.265C>T (p.Arg89Cys) |
SNV |
Likely Pathogenic
|
21117 |
rs80356669 |
GRCh37: 11:2181150-2181150 GRCh38: 11:2159920-2159920 |
32 |
ABCC8 |
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln) |
SNV |
Likely Pathogenic
|
35611 |
rs193922400 |
GRCh37: 11:17426071-17426071 GRCh38: 11:17404524-17404524 |
33 |
INS-IGF2, INS |
NM_000207.3(INS):c.103C>A (p.Leu35Met) |
SNV |
Likely Pathogenic
|
1526013 |
|
GRCh37: 11:2182099-2182099 GRCh38: 11:2160869-2160869 |
34 |
INS-IGF2, INS |
NM_000207.3(INS):c.101A>C (p.His34Pro) |
SNV |
Likely Pathogenic
|
1526012 |
|
GRCh37: 11:2182101-2182101 GRCh38: 11:2160871-2160871 |
35 |
INS-IGF2, INS |
NM_000207.3(INS):c.326G>T (p.Cys109Phe) |
SNV |
Likely Pathogenic
|
1526011 |
|
GRCh37: 11:2181089-2181089 GRCh38: 11:2159859-2159859 |
36 |
INS-IGF2, INS |
NM_000207.3(INS):c.322T>G (p.Tyr108Asp) |
SNV |
Likely Pathogenic
|
1526010 |
|
GRCh37: 11:2181093-2181093 GRCh38: 11:2159863-2159863 |
37 |
INS-IGF2, INS |
NM_000207.3(INS):c.293G>T (p.Ser98Ile) |
SNV |
Likely Pathogenic
|
1526009 |
|
GRCh37: 11:2181122-2181122 GRCh38: 11:2159892-2159892 |
38 |
ABCC8 |
NM_000352.6(ABCC8):c.4610A>G (p.His1537Arg) |
SNV |
Likely Pathogenic
|
1526007 |
|
GRCh37: 11:17414674-17414674 GRCh38: 11:17393127-17393127 |
39 |
ABCC8 |
NM_000352.6(ABCC8):c.4264T>A (p.Ser1422Thr) |
SNV |
Likely Pathogenic
|
1526006 |
|
GRCh37: 11:17417200-17417200 GRCh38: 11:17395653-17395653 |
40 |
ABCC8 |
NM_000352.6(ABCC8):c.3788C>T (p.Ala1263Val) |
SNV |
Likely Pathogenic
|
1526005 |
|
GRCh37: 11:17419310-17419310 GRCh38: 11:17397763-17397763 |
41 |
INS-IGF2, INS |
NM_000207.3(INS):c.94G>A (p.Gly32Ser) |
SNV |
Likely Pathogenic
|
21122 |
rs80356664 |
GRCh37: 11:2182108-2182108 GRCh38: 11:2160878-2160878 |
42 |
ABCC8 |
NM_000352.6(ABCC8):c.2974C>T (p.Arg992Cys) |
SNV |
Uncertain Significance
|
1526004 |
|
GRCh37: 11:17428623-17428623 GRCh38: 11:17407076-17407076 |
43 |
ABCC8 |
NM_000352.6(ABCC8):c.413-5G>A |
SNV |
Uncertain Significance
|
35613 |
rs186946111 |
GRCh37: 11:17485156-17485156 GRCh38: 11:17463609-17463609 |
44 |
PDX1 |
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro) |
MICROSAT |
Uncertain Significance
|
36412 |
rs193922357 |
GRCh37: 13:28498712-28498714 GRCh38: 13:27924562-27924563 |
45 |
ABCC8 |
NM_000352.6(ABCC8):c.-19A>G |
SNV |
Uncertain Significance
|
35602 |
rs193922394 |
GRCh37: 11:17498342-17498342 GRCh38: 11:17476795-17476795 |
46 |
ABCC8 |
NM_000352.6(ABCC8):c.2117-12C>A |
SNV |
Uncertain Significance
|
35607 |
rs193922398 |
GRCh37: 11:17448713-17448713 GRCh38: 11:17427166-17427166 |
47 |
GCK |
NM_000162.5(GCK):c.45+11C>G |
SNV |
Uncertain Significance
|
36219 |
rs193922298 |
GRCh37: 7:44228497-44228497 GRCh38: 7:44188898-44188898 |
48 |
ABCC8 |
NM_000352.6(ABCC8):c.208G>C (p.Gly70Arg) |
SNV |
Uncertain Significance
|
551343 |
rs764349043 |
GRCh37: 11:17496515-17496515 GRCh38: 11:17474968-17474968 |
49 |
ABCC8 |
NM_000352.6(ABCC8):c.4412-14C>T |
SNV |
Uncertain Significance
|
35619 |
rs193922404 |
GRCh37: 11:17415960-17415960 GRCh38: 11:17394413-17394413 |
50 |
PDX1 |
NM_000209.4(PDX1):c.216C>T (p.Pro72=) |
SNV |
Likely Benign
|
36405 |
rs193922353 |
GRCh37: 13:28494491-28494491 GRCh38: 13:27920354-27920354 |