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.827C>G (p.Ala276Gly) | HNF1A | Likely pathogenic | 12 | 121432080 | 121432080 | C | G | reviewed by expert panel | ClinGen:CA214333 |
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_000545.8(HNF1A):c.779C>T (p.Thr260Met) | HNF1A | Pathogenic | 12 | 121432032 | 121432032 | C | T | reviewed by expert panel | ClinGen:CA10588543 |
single nucleotide variant | NM_000545.8(HNF1A):c.811C>T (p.Arg271Trp) | HNF1A | Pathogenic | 12 | 121432064 | 121432064 | C | T | reviewed by expert panel | ClinGen:CA10588544 |
single nucleotide variant | NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter) | HNF1A | Pathogenic | 12 | 121426835 | 121426835 | C | T | reviewed by expert panel | ClinGen:CA6831769 |
single nucleotide variant | NM_000545.8(HNF1A):c.511C>T (p.Arg171Ter) | HNF1A | Pathogenic | 12 | 121426820 | 121426820 | C | T | reviewed by expert panel | ClinGen:CA16606083 |
single nucleotide variant | NM_000545.8(HNF1A):c.686G>A (p.Arg229Gln) | HNF1A | Pathogenic | 12 | 121431482 | 121431482 | G | A | reviewed by expert panel | ClinGen:CA16606085 |
single nucleotide variant | NM_000545.8(HNF1A):c.599G>A (p.Arg200Gln) | HNF1A | Pathogenic | 12 | 121431395 | 121431395 | G | A | reviewed by expert panel | ClinGen:CA16606474 |
single nucleotide variant | NM_000545.8(HNF1A):c.788G>A (p.Arg263His) | HNF1A | Pathogenic | 12 | 121432041 | 121432041 | G | A | reviewed by expert panel | ClinGen:CA16606475 |
single nucleotide variant | NM_000545.8(HNF1A):c.616T>A (p.Trp206Arg) | HNF1A | Likely pathogenic | 12 | 121431412 | 121431412 | T | A | reviewed by expert panel | ClinGen:CA16609261 |