Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
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 |
single nucleotide variant | NM_000545.8(HNF1A):c.714-1G>A | HNF1A | Likely pathogenic | 12 | 121431966 | 121431966 | G | A | criteria provided, single submitter | OMIM:142410.0018 |
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 | NG_011731.2:g.4741A>C | HNF1A | Likely pathogenic | 12 | 121416289 | 121416289 | A | C | reviewed by expert panel | OMIM:142410.0007 |
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 |
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.1340C>T (p.Pro447Leu) | HNF1A | Pathogenic | 12 | 121435307 | 121435307 | C | T | reviewed by expert panel | ClinGen:CA124454,OMIM:142410.0002 |