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.608G>A (p.Arg203His) | HNF1A | Pathogenic | 12 | 121431404 | 121431404 | G | A | reviewed by expert panel | ClinGen:CA153100 |
single nucleotide variant | NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp) | HNF1A | Pathogenic | 12 | 121431394 | 121431394 | C | T | reviewed by expert panel | ClinGen:CA214311 |
single nucleotide variant | NM_000545.8(HNF1A):c.1A>G (p.Met1Val) | HNF1A | Pathogenic | 12 | 121416572 | 121416572 | A | G | reviewed by expert panel | ClinGen:CA214292 |
Deletion | NM_000545.8(HNF1A):c.130del (p.Leu44fs) | HNF1A | Pathogenic | 12 | 121416697 | 121416697 | GC | G | reviewed by expert panel | ClinGen:CA214261 |
Deletion | NM_000545.8(HNF1A):c.1129del (p.Leu377fs) | HNF1A | Pathogenic | 12 | 121434361 | 121434361 | GC | G | reviewed by expert panel | ClinGen:CA214257 |
single nucleotide variant | NM_000545.8(HNF1A):c.827C>A (p.Ala276Asp) | HNF1A | Pathogenic | 12 | 121432080 | 121432080 | C | A | reviewed by expert panel | ClinGen:CA124481,OMIM:142410.0019 |
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.335C>T (p.Pro112Leu) | HNF1A | Pathogenic | 12 | 121426644 | 121426644 | C | T | reviewed by expert panel | ClinGen:CA124475,OMIM:142410.0015 |
Deletion | NM_000545.8(HNF1A):c.142del (p.Glu48fs) | HNF1A | Pathogenic | 12 | 121416709 | 121416709 | AG | A | reviewed by expert panel | OMIM:142410.0012 |
single nucleotide variant | NM_000545.8(HNF1A):c.815G>A (p.Arg272His) | HNF1A | Pathogenic | 12 | 121432068 | 121432068 | G | A | reviewed by expert panel | ClinGen:CA124460,OMIM:142410.0005 |