Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_000545.8(HNF1A):c.1822_1829del (p.Ser608fs) | HNF1A | Likely pathogenic | 12 | 121438921 | 121438928 | GAGCCACCT | G | criteria provided, single submitter | ClinGen:CA658797970 |
single nucleotide variant | NM_000545.8(HNF1A):c.1501+1G>A | HNF1A | Likely pathogenic | 12 | 121435469 | 121435469 | G | A | reviewed by expert panel | ClinGen:CA386970409 |
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.1483C>T (p.Gln495Ter) | HNF1A | Pathogenic | 12 | 121435450 | 121435450 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000545.8(HNF1A):c.1378C>T (p.Gln460Ter) | HNF1A | Pathogenic | 12 | 121435345 | 121435345 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA386970117 |
Deletion | NM_000545.8(HNF1A):c.1359del (p.Ser454fs) | HNF1A | Likely pathogenic | 12 | 121435326 | 121435326 | GC | G | reviewed by expert panel | ClinGen:CA645372549 |
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 |
Deletion | NM_000545.8(HNF1A):c.1137del (p.Val380fs) | HNF1A | Pathogenic | 12 | 121434373 | 121434373 | CT | C | reviewed by expert panel | ClinGen:CA645372923 |
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.956-1G>C | HNF1A | Pathogenic | 12 | 121434064 | 121434064 | G | C | reviewed by expert panel | - |