An
Autosomal dominant, Autosomal recessive
mode(s) within the
Metabolic disorders
category
Conflicting classifications of pathogenicity
8
Likely pathogenic
14
Likely pathogenic/Likely risk allele
1
Pathogenic
3
Pathogenic/Likely pathogenic
8
Uncertain significance
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000352.6(ABCC8):c.4610A>G (p.His1537Arg) | Single nucleotide variant | Chr11:17393127 | Likely pathogenic | Missense variant|non-coding transcript variant | rs2133390317 |
.Molecular Genetics, Madras Diabetes Research Foundation |
| NM_000352.6(ABCC8):c.4264T>A (p.Ser1422Thr) | Single nucleotide variant | Chr11:17395653 | Likely pathogenic | Missense variant|non-coding transcript variant | rs2133401009 |
.Molecular Genetics, Madras Diabetes Research Foundation |
| NM_000352.6(ABCC8):c.3788C>T (p.Ala1263Val) | Single nucleotide variant | Chr11:17397763 | Conflicting classifications of pathogenicity | Missense variant|non-coding transcript variant | rs772094360 |
.Molecular Genetics, Madras Diabetes Research Foundation |
| NM_000352.6(ABCC8):c.2974C>T (p.Arg992Cys) | Single nucleotide variant | Chr11:17407076 | Uncertain significance | Missense variant|non-coding transcript variant | rs1954577653 |
.Molecular Genetics, Madras Diabetes Research Foundation |
| NM_000352.6(ABCC8):c.1608T>A (p.Phe536Leu) | Single nucleotide variant | Chr11:17442742 | Likely pathogenic | Missense variant|non-coding transcript variant | rs753618932 |
.Molecular Genetics, Madras Diabetes Research Foundation |
| NM_000352.6(ABCC8):c.643G>A (p.Val215Ile) | Single nucleotide variant | Chr11:17461762 | Likely pathogenic | Missense variant|non-coding transcript variant | rs2133680286 |
.Molecular Genetics, Madras Diabetes Research Foundation |
| NM_000352.6(ABCC8):c.634G>T (p.Asp212Tyr) | Single nucleotide variant | Chr11:17461771 | Likely pathogenic | Missense variant|non-coding transcript variant | rs2133680409 |
.Molecular Genetics, Madras Diabetes Research Foundation |
| NM_000352.6(ABCC8):c.2557G>A (p.Asp853Asn) | Single nucleotide variant | Chr11:17410653 | Conflicting classifications of pathogenicity | Missense variant|non-coding transcript variant | rs1954765607 |
.Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic .Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology |
| NM_000352.6(ABCC8):c.4325A>T (p.Glu1442Val) | Single nucleotide variant | Chr11:17395258 | Conflicting classifications of pathogenicity | Missense variant|non-coding transcript variant | rs562680077 |
.Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic .Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology |
| NM_000352.6(ABCC8):c.145A>T (p.Ile49Phe) | Single nucleotide variant | Chr11:17476632 | Likely pathogenic | Missense variant|non-coding transcript variant | rs1554949196 |
.Molecular Genetics, Madras Diabetes Research Foundation |
| NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln) | Single nucleotide variant | Chr11:17412700 | Conflicting classifications of pathogenicity | Missense variant|non-coding transcript variant | rs547150342 |
.Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic .Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology |
| NM_000352.6(ABCC8):c.208G>C (p.Gly70Arg) | Single nucleotide variant | Chr11:17474968 | Conflicting classifications of pathogenicity | Missense variant|non-coding transcript variant | rs764349043 |
.Molecular Genetics, Madras Diabetes Research Foundation |
| NM_000352.6(ABCC8):c.3593C>T (p.Pro1198Leu) | Single nucleotide variant | Chr11:17402718 | Pathogenic/Likely pathogenic | Missense variant|non-coding transcript variant | rs1554909277 |
.Molecular Genetics, Madras Diabetes Research Foundation |
| NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp) | Single nucleotide variant | Chr11:17404525 | Pathogenic/Likely pathogenic | Missense variant|non-coding transcript variant | rs797045209 |
.Molecular Genetics, Madras Diabetes Research Foundation |
| NM_000352.6(ABCC8):c.674T>C (p.Leu225Pro) | Single nucleotide variant | Chr11:17461731 | Pathogenic/Likely pathogenic | Missense variant|non-coding transcript variant | rs1048095 |
.Molecular Genetics, Madras Diabetes Research Foundation |
| NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu) | Single nucleotide variant | Chr11:17470119 | Pathogenic/Likely pathogenic | Missense variant|non-coding transcript variant | rs80356637 |
.Molecular Genetics, Madras Diabetes Research Foundation |
| NM_001042413.2(GLIS3):c.2323C>T (p.His775Tyr) | Single nucleotide variant | Chr9:3856159 | Conflicting classifications of pathogenicity | Missense variant | rs745671153 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000207.3(INS):c.103C>A (p.Leu35Met) | Single nucleotide variant | Chr11:2160869 | Likely pathogenic | Missense variant|non-coding transcript variant | rs1278232284 |
.Molecular Genetics, Madras Diabetes Research Foundation |
| NM_000207.3(INS):c.101A>C (p.His34Pro) | Single nucleotide variant | Chr11:2160871 | Likely pathogenic | Missense variant|non-coding transcript variant | rs1564912274 |
.Molecular Genetics, Madras Diabetes Research Foundation |
| NM_000207.3(INS):c.322T>G (p.Tyr108Asp) | Single nucleotide variant | Chr11:2159863 | Likely pathogenic | Missense variant|intron variant | rs2133672778 |
.Molecular Genetics, Madras Diabetes Research Foundation |
| NM_000207.3(INS):c.293G>T (p.Ser98Ile) | Single nucleotide variant | Chr11:2159892 | Likely pathogenic | Missense variant|intron variant | rs2133672883 |
.Molecular Genetics, Madras Diabetes Research Foundation |
| NM_000207.3(INS):c.94G>A (p.Gly32Ser) | Single nucleotide variant | Chr11:2160878 | Pathogenic/Likely pathogenic | Missense variant|non-coding transcript variant | rs80356664 |
.Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic .Molecular Genetics, Madras Diabetes Research Foundation |
| NM_000207.3(INS):c.143T>G (p.Phe48Cys) | Single nucleotide variant | Chr11:2160829 | Likely pathogenic/Likely risk allele | Missense variant|non-coding transcript variant | rs80356668 |
.Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic .Molecular Genetics, Madras Diabetes Research Foundation |
| NM_000207.3(INS):c.287G>A (p.Cys96Tyr) | Single nucleotide variant | Chr11:2159898 | Conflicting classifications of pathogenicity | Missense variant|intron variant | rs80356671 |
.Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic .Molecular Genetics, Madras Diabetes Research Foundation |
| NM_000207.3(INS):c.326G>T (p.Cys109Phe) | Single nucleotide variant | Chr11:2159859 | Likely pathogenic | Missense variant|intron variant | rs2133672742 |
.Molecular Genetics, Madras Diabetes Research Foundation |
| NM_000207.3(INS):c.265C>T (p.Arg89Cys) | Single nucleotide variant | Chr11:2159920 | Pathogenic/Likely pathogenic | Missense variant|intron variant | rs80356669 |
.Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic .Molecular Genetics, Madras Diabetes Research Foundation |
| NM_000525.4(KCNJ11):c.1001G>T (p.Gly334Val) | Single nucleotide variant | Chr11:17387091 | Likely pathogenic | Missense variant | rs193929358 |
.Molecular Genetics, Madras Diabetes Research Foundation |
| NM_000525.4(KCNJ11):c.754G>T (p.Val252Leu) | Single nucleotide variant | Chr11:17387338 | Likely pathogenic | Missense variant | rs2133379609 |
.Molecular Genetics, Madras Diabetes Research Foundation |
| NM_000525.4(KCNJ11):c.190G>A (p.Val64Met) | Single nucleotide variant | Chr11:17387902 | Likely pathogenic | Missense variant|intron variant | rs115716690 |
.Molecular Genetics, Madras Diabetes Research Foundation |
| NM_000525.4(KCNJ11):c.679G>A (p.Glu227Lys) | Single nucleotide variant | Chr11:17387413 | Pathogenic/Likely pathogenic | Missense variant | rs587783672 |
.Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic .Molecular Genetics, Madras Diabetes Research Foundation |
| NM_000525.4(KCNJ11):c.149G>A (p.Arg50Gln) | Single nucleotide variant | Chr11:17387943 | Pathogenic/Likely pathogenic | Missense variant|intron variant | rs80356611 |
.Molecular Genetics, Madras Diabetes Research Foundation |
| NM_000525.4(KCNJ11):c.510G>C (p.Lys170Asn) | Single nucleotide variant | Chr11:17387582 | Conflicting classifications of pathogenicity | Missense variant | rs80356622 |
.Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic .Molecular Genetics, Madras Diabetes Research Foundation |
| NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys) | Single nucleotide variant | Chr11:17387491 | Pathogenic | Missense variant | rs80356625 |
.Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic .Molecular Genetics, Madras Diabetes Research Foundation |
| NM_000525.4(KCNJ11):c.175G>A (p.Val59Met) | Single nucleotide variant | Chr11:17387917 | Pathogenic | Missense variant|intron variant | rs80356616 |
.Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic .Molecular Genetics, Madras Diabetes Research Foundation |
| NM_000525.4(KCNJ11):c.602G>A (p.Arg201His) | Single nucleotide variant | Chr11:17387490 | Pathogenic | Missense variant | rs80356624 |
.Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic .Molecular Genetics, Madras Diabetes Research Foundation .Neuberg Centre For Genomic Medicine, NCGM |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution