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.956-1G>C | HNF1A | Pathogenic | 12 | 121434064 | 121434064 | G | C | reviewed by expert panel | - |
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.956-1G>A | HNF1A | Pathogenic | 12 | 121434064 | 121434064 | G | A | reviewed by expert panel | - |
single nucleotide variant | NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu) | HNF1A | Likely pathogenic | 12 | 121431422 | 121431422 | C | A | reviewed by expert panel | - |
single nucleotide variant | NM_000545.8(HNF1A):c.476G>A (p.Arg159Gln) | HNF1A | Pathogenic | 12 | 121426785 | 121426785 | G | A | reviewed by expert panel | - |
single nucleotide variant | NM_000545.8(HNF1A):c.370C>T (p.Gln124Ter) | HNF1A | Pathogenic | 12 | 121426679 | 121426679 | C | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000545.8(HNF1A):c.864_897del (p.Pro290fs) | HNF1A | Pathogenic/Likely pathogenic | 12 | 121432116 | 121432149 | GGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCT | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000545.8(HNF1A):c.392G>A (p.Arg131Gln) | HNF1A | Pathogenic | 12 | 121426701 | 121426701 | G | A | reviewed by expert panel | - |
single nucleotide variant | NM_000545.8(HNF1A):c.19C>T (p.Gln7Ter) | HNF1A | Pathogenic | 12 | 121416590 | 121416590 | C | T | reviewed by expert panel | - |
single nucleotide variant | NM_000545.8(HNF1A):c.787C>T (p.Arg263Cys) | HNF1A | Pathogenic | 12 | 121432040 | 121432040 | C | T | reviewed by expert panel | - |