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.1340C>T (p.Pro447Leu) | HNF1A | Pathogenic | 12 | 121435307 | 121435307 | C | T | reviewed by expert panel | ClinGen:CA124454,OMIM:142410.0002 |
Duplication | NM_000545.8(HNF1A):c.872dup (p.Gly292fs) | HNF1A | Pathogenic | 12 | 121432117 | 121432118 | G | GC | reviewed by expert panel | ClinGen:CA124453,OMIM:142410.0001 |
single nucleotide variant | NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu) | HNF1A | Likely pathogenic | 12 | 121431422 | 121431422 | C | A | reviewed by expert panel | - |
Deletion | NM_000545.8(HNF1A):c.1822_1829del (p.Ser608fs) | HNF1A | Likely pathogenic | 12 | 121438921 | 121438928 | GAGCCACCT | G | criteria provided, single submitter | ClinGen:CA658797970 |
Duplication | NM_000545.8(HNF1A):c.722_725dup (p.Ile242fs) | HNF1A | Likely pathogenic | 12 | 121431972 | 121431973 | A | AATGC | reviewed by expert panel | ClinGen:CA658658177 |
single nucleotide variant | NM_000545.8(HNF1A):c.392G>T (p.Arg131Leu) | HNF1A | Likely pathogenic | 12 | 121426701 | 121426701 | G | T | reviewed by expert panel | ClinGen:CA386959454 |
single nucleotide variant | NM_000545.8(HNF1A):c.326+2T>G | HNF1A | Likely pathogenic | 12 | 121416899 | 121416899 | T | G | reviewed by expert panel | ClinGen:CA386955008 |
Deletion | NM_000545.8(HNF1A):c.1359del (p.Ser454fs) | HNF1A | Likely pathogenic | 12 | 121435326 | 121435326 | GC | G | reviewed by expert panel | ClinGen:CA645372549 |
Deletion | NM_000545.8(HNF1A):c.864del (p.Pro291fs) | HNF1A | Likely pathogenic | 12 | 121432115 | 121432115 | CG | C | reviewed by expert panel | ClinGen:CA6831842 |
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 |