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.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.494G>A (p.Trp165Ter) | HNF1A | Pathogenic | 12 | 121426803 | 121426803 | G | A | reviewed by expert panel | ClinGen:CA386960529 |
single nucleotide variant | NM_000545.8(HNF1A):c.620G>A (p.Gly207Asp) | HNF1A | Pathogenic | 12 | 121431416 | 121431416 | G | A | reviewed by expert panel | ClinGen:CA386964424 |
single nucleotide variant | NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys) | HNF1A | Pathogenic | 12 | 121432067 | 121432067 | C | T | reviewed by expert panel | ClinGen:CA386966363 |
single nucleotide variant | NM_000545.8(HNF1A):c.527-1G>A | HNF1A | Pathogenic | 12 | 121431322 | 121431322 | G | A | reviewed by expert panel | ClinGen:CA386963414 |
Duplication | NM_000545.8(HNF1A):c.722_725dup (p.Ile242fs) | HNF1A | Likely pathogenic | 12 | 121431972 | 121431973 | A | AATGC | reviewed by expert panel | ClinGen:CA658658177 |
single nucleotide variant | NM_000545.8(HNF1A):c.812G>A (p.Arg271Gln) | HNF1A | Pathogenic | 12 | 121432065 | 121432065 | G | A | reviewed by expert panel | ClinGen:CA6831835 |
single nucleotide variant | NM_000545.8(HNF1A):c.1489C>T (p.Gln497Ter) | HNF1A | Pathogenic | 12 | 121435456 | 121435456 | C | T | reviewed by expert panel | ClinGen:CA386970379 |
single nucleotide variant | NM_000545.8(HNF1A):c.1A>T (p.Met1Leu) | HNF1A | Pathogenic | 12 | 121416572 | 121416572 | A | T | reviewed by expert panel | ClinGen:CA386951973 |
Deletion | NM_000545.8(HNF1A):c.1822_1829del (p.Ser608fs) | HNF1A | Likely pathogenic | 12 | 121438921 | 121438928 | GAGCCACCT | G | criteria provided, single submitter | ClinGen:CA658797970 |