Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000545.8(HNF1A):c.335C>T (p.Pro112Leu) | HNF1A | Pathogenic | 12 | 121426644 | 121426644 | C | T | reviewed by expert panel | ClinGen:CA124475,OMIM:142410.0015 |
single nucleotide variant | NM_000545.8(HNF1A):c.365A>G (p.Tyr122Cys) | HNF1A | Likely pathogenic | 12 | 121426674 | 121426674 | A | G | reviewed by expert panel | ClinGen:CA124457,OMIM:142410.0004 |
single nucleotide variant | NM_000545.8(HNF1A):c.370C>T (p.Gln124Ter) | HNF1A | Pathogenic | 12 | 121426679 | 121426679 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000545.8(HNF1A):c.391C>T (p.Arg131Trp) | HNF1A | Pathogenic | 12 | 121426700 | 121426700 | C | T | reviewed by expert panel | ClinGen:CA124478,OMIM:142410.0016 |
single nucleotide variant | NM_000545.8(HNF1A):c.392G>T (p.Arg131Leu) | HNF1A | Likely pathogenic | 12 | 121426701 | 121426701 | G | T | reviewed by expert panel | ClinGen:CA386959454 |
single nucleotide variant | NM_000545.8(HNF1A):c.392G>A (p.Arg131Gln) | HNF1A | Pathogenic | 12 | 121426701 | 121426701 | G | A | reviewed by expert panel | - |
single nucleotide variant | NM_000545.8(HNF1A):c.434C>T (p.Ser145Phe) | HNF1A | Pathogenic | 12 | 121426743 | 121426743 | C | T | reviewed by expert panel | ClinGen:CA386959990 |
single nucleotide variant | NM_000545.8(HNF1A):c.475C>T (p.Arg159Trp) | HNF1A | Pathogenic | 12 | 121426784 | 121426784 | C | T | reviewed by expert panel | ClinGen:CA244529794 |
single nucleotide variant | NM_000545.8(HNF1A):c.476G>A (p.Arg159Gln) | HNF1A | Pathogenic | 12 | 121426785 | 121426785 | G | A | reviewed by expert panel | - |
single nucleotide variant | NM_000545.8(HNF1A):c.494G>A (p.Trp165Ter) | HNF1A | Pathogenic | 12 | 121426803 | 121426803 | G | A | reviewed by expert panel | ClinGen:CA386960529 |