1 |
KLF11
|
NM_003597.4(KLF11): c.659C> T (p.Thr220Met)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs34336420
|
GRCh37 |
Chromosome 2, 10188123: 10188123 |
2 |
KLF11
|
NM_003597.4(KLF11): c.659C> T (p.Thr220Met)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs34336420
|
GRCh38 |
Chromosome 2, 10047996: 10047996 |
3 |
PDX1
|
NM_000209.3(PDX1): c.226G> A (p.Asp76Asn)
|
single nucleotide variant |
risk factor |
rs137852783
|
GRCh37 |
Chromosome 13, 28494501: 28494501 |
4 |
PDX1
|
NM_000209.3(PDX1): c.226G> A (p.Asp76Asn)
|
single nucleotide variant |
risk factor |
rs137852783
|
GRCh38 |
Chromosome 13, 27920364: 27920364 |
5 |
PDX1
|
NM_000209.3(PDX1): c.670G> A (p.Glu224Lys)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs137852787
|
GRCh37 |
Chromosome 13, 28498656: 28498656 |
6 |
PDX1
|
NM_000209.3(PDX1): c.670G> A (p.Glu224Lys)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs137852787
|
GRCh38 |
Chromosome 13, 27924519: 27924519 |
7 |
BLK
|
NM_001715.2(BLK): c.211G> A (p.Ala71Thr)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs55758736
|
GRCh37 |
Chromosome 8, 11405576: 11405576 |
8 |
BLK
|
NM_001715.2(BLK): c.211G> A (p.Ala71Thr)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs55758736
|
GRCh38 |
Chromosome 8, 11548067: 11548067 |
9 |
PAX4
|
NM_006193.2(PAX4): c.397C> T (p.Arg133Trp)
|
single nucleotide variant |
risk factor |
rs2233578
|
GRCh37 |
Chromosome 7, 127254551: 127254551 |
10 |
PAX4
|
NM_006193.2(PAX4): c.397C> T (p.Arg133Trp)
|
single nucleotide variant |
risk factor |
rs2233578
|
GRCh38 |
Chromosome 7, 127614497: 127614497 |
11 |
INSR
|
NM_000208.3(INSR): c.3034G> A (p.Val1012Met)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs1799816
|
GRCh37 |
Chromosome 19, 7125518: 7125518 |
12 |
INSR
|
NM_000208.3(INSR): c.3034G> A (p.Val1012Met)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs1799816
|
GRCh38 |
Chromosome 19, 7125507: 7125507 |
13 |
HNF1A
|
NM_000545.6(HNF1A): c.815G> A (p.Arg272His)
|
single nucleotide variant |
Pathogenic |
rs137853238
|
GRCh37 |
Chromosome 12, 121432068: 121432068 |
14 |
HNF1A
|
NM_000545.6(HNF1A): c.815G> A (p.Arg272His)
|
single nucleotide variant |
Pathogenic |
rs137853238
|
GRCh38 |
Chromosome 12, 120994265: 120994265 |
15 |
SLC2A2
|
NM_000340.1(SLC2A2): c.589G> A (p.Val197Ile)
|
single nucleotide variant |
Uncertain significance |
rs121909741
|
GRCh37 |
Chromosome 3, 170724960: 170724960 |
16 |
SLC2A2
|
NM_000340.1(SLC2A2): c.589G> A (p.Val197Ile)
|
single nucleotide variant |
Uncertain significance |
rs121909741
|
GRCh38 |
Chromosome 3, 171007171: 171007171 |
17 |
GCK
|
NM_000162.3(GCK): c.146C> A (p.Thr49Asn)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs193922286
|
GRCh37 |
Chromosome 7, 44192962: 44192962 |
18 |
GCK
|
NM_000162.3(GCK): c.146C> A (p.Thr49Asn)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs193922286
|
GRCh38 |
Chromosome 7, 44153363: 44153363 |
19 |
PDX1
|
NM_000209.3(PDX1): c.726_728dupGCC (p.Pro244_Gly245insPro)
|
duplication |
Conflicting interpretations of pathogenicity |
rs193922357
|
GRCh37 |
Chromosome 13, 28498712: 28498714 |
20 |
PDX1
|
NM_000209.3(PDX1): c.726_728dupGCC (p.Pro244_Gly245insPro)
|
duplication |
Conflicting interpretations of pathogenicity |
rs193922357
|
GRCh38 |
Chromosome 13, 27924575: 27924577 |
21 |
KCNJ11
|
NM_000525.3(KCNJ11): c.1154C> G (p.Ser385Cys)
|
single nucleotide variant |
Benign/Likely benign |
rs41282930
|
GRCh37 |
Chromosome 11, 17408485: 17408485 |
22 |
KCNJ11
|
NM_000525.3(KCNJ11): c.1154C> G (p.Ser385Cys)
|
single nucleotide variant |
Benign/Likely benign |
rs41282930
|
GRCh38 |
Chromosome 11, 17386938: 17386938 |
23 |
MC4R
|
NM_005912.2(MC4R): c.606C> A (p.Phe202Leu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs138281308
|
GRCh37 |
Chromosome 18, 58038977: 58038977 |
24 |
MC4R
|
NM_005912.2(MC4R): c.606C> A (p.Phe202Leu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs138281308
|
GRCh38 |
Chromosome 18, 60371744: 60371744 |
25 |
HNF1A
|
NM_000545.6(HNF1A): c.965A> G (p.Tyr322Cys)
|
single nucleotide variant |
Uncertain significance |
rs140491072
|
GRCh37 |
Chromosome 12, 121434074: 121434074 |
26 |
HNF1A
|
NM_000545.6(HNF1A): c.965A> G (p.Tyr322Cys)
|
single nucleotide variant |
Uncertain significance |
rs140491072
|
GRCh38 |
Chromosome 12, 120996271: 120996271 |
27 |
WFS1
|
NM_006005.3(WFS1): c.1495C> T (p.Leu499Phe)
|
single nucleotide variant |
Benign/Likely benign |
rs114152068
|
GRCh37 |
Chromosome 4, 6303017: 6303017 |
28 |
WFS1
|
NM_006005.3(WFS1): c.1495C> T (p.Leu499Phe)
|
single nucleotide variant |
Benign/Likely benign |
rs114152068
|
GRCh38 |
Chromosome 4, 6301290: 6301290 |
29 |
WFS1
|
NM_006005.3(WFS1): c.1726G> A (p.Gly576Ser)
|
single nucleotide variant |
Benign/Likely benign |
rs1805069
|
GRCh37 |
Chromosome 4, 6303248: 6303248 |
30 |
WFS1
|
NM_006005.3(WFS1): c.1726G> A (p.Gly576Ser)
|
single nucleotide variant |
Benign/Likely benign |
rs1805069
|
GRCh38 |
Chromosome 4, 6301521: 6301521 |
31 |
WFS1
|
NM_006005.3(WFS1): c.1805C> T (p.Ala602Val)
|
single nucleotide variant |
Benign/Likely benign |
rs2230720
|
GRCh37 |
Chromosome 4, 6303327: 6303327 |
32 |
WFS1
|
NM_006005.3(WFS1): c.1805C> T (p.Ala602Val)
|
single nucleotide variant |
Benign/Likely benign |
rs2230720
|
GRCh38 |
Chromosome 4, 6301600: 6301600 |
33 |
WFS1
|
NM_006005.3(WFS1): c.2012C> T (p.Ala671Val)
|
single nucleotide variant |
Benign/Likely benign |
rs71530907
|
GRCh37 |
Chromosome 4, 6303534: 6303534 |
34 |
WFS1
|
NM_006005.3(WFS1): c.2012C> T (p.Ala671Val)
|
single nucleotide variant |
Benign/Likely benign |
rs71530907
|
GRCh38 |
Chromosome 4, 6301807: 6301807 |
35 |
WFS1
|
NM_006005.3(WFS1): c.2335G> A (p.Val779Met)
|
single nucleotide variant |
Benign/Likely benign |
rs141328044
|
GRCh37 |
Chromosome 4, 6303857: 6303857 |
36 |
WFS1
|
NM_006005.3(WFS1): c.2335G> A (p.Val779Met)
|
single nucleotide variant |
Benign/Likely benign |
rs141328044
|
GRCh38 |
Chromosome 4, 6302130: 6302130 |
37 |
WFS1
|
NM_006005.3(WFS1): c.2611G> A (p.Val871Met)
|
single nucleotide variant |
Benign/Likely benign |
rs71532874
|
GRCh37 |
Chromosome 4, 6304133: 6304133 |
38 |
WFS1
|
NM_006005.3(WFS1): c.2611G> A (p.Val871Met)
|
single nucleotide variant |
Benign/Likely benign |
rs71532874
|
GRCh38 |
Chromosome 4, 6302406: 6302406 |
39 |
BSCL2
|
NM_032667.6(BSCL2): c.1088T> C (p.Leu363Pro)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs145649423
|
GRCh38 |
Chromosome 11, 62690476: 62690476 |
40 |
BSCL2
|
NM_032667.6(BSCL2): c.1088T> C (p.Leu363Pro)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs145649423
|
GRCh37 |
Chromosome 11, 62457948: 62457948 |
41 |
CEL
|
NM_001807.4(CEL): c.362T> G (p.Leu121Arg)
|
single nucleotide variant |
Benign |
rs113056079
|
GRCh37 |
Chromosome 9, 135940439: 135940439 |
42 |
CEL
|
NM_001807.4(CEL): c.362T> G (p.Leu121Arg)
|
single nucleotide variant |
Benign |
rs113056079
|
GRCh38 |
Chromosome 9, 133065052: 133065052 |
43 |
EIF2AK3
|
NM_004836.6(EIF2AK3): c.1756A> T (p.Ile586Leu)
|
single nucleotide variant |
Benign/Likely benign |
rs75385605
|
GRCh37 |
Chromosome 2, 88882955: 88882955 |
44 |
EIF2AK3
|
NM_004836.6(EIF2AK3): c.1756A> T (p.Ile586Leu)
|
single nucleotide variant |
Benign/Likely benign |
rs75385605
|
GRCh38 |
Chromosome 2, 88583437: 88583437 |
45 |
GATA6
|
NM_005257.5(GATA6): c.43G> C (p.Gly15Arg)
|
single nucleotide variant |
Benign |
rs116262672
|
GRCh37 |
Chromosome 18, 19751148: 19751148 |
46 |
GATA6
|
NM_005257.5(GATA6): c.43G> C (p.Gly15Arg)
|
single nucleotide variant |
Benign |
rs116262672
|
GRCh38 |
Chromosome 18, 22171187: 22171187 |
47 |
GATA6
|
NM_005257.5(GATA6): c.851C> G (p.Ala284Gly)
|
single nucleotide variant |
Benign/Likely benign |
rs185325359
|
GRCh37 |
Chromosome 18, 19751956: 19751956 |
48 |
GATA6
|
NM_005257.5(GATA6): c.851C> G (p.Ala284Gly)
|
single nucleotide variant |
Benign/Likely benign |
rs185325359
|
GRCh38 |
Chromosome 18, 22171995: 22171995 |
49 |
GCK
|
NM_000162.4(GCK): c.31G> A (p.Ala11Thr)
|
single nucleotide variant |
Benign/Likely benign |
rs116093166
|
GRCh37 |
Chromosome 7, 44228522: 44228522 |
50 |
GCK
|
NM_000162.4(GCK): c.31G> A (p.Ala11Thr)
|
single nucleotide variant |
Benign/Likely benign |
rs116093166
|
GRCh38 |
Chromosome 7, 44188923: 44188923 |