Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000551.4(VHL):c.499C>T (p.Arg167Trp) | VHL | Pathogenic | 3 | 10191506 | 10191506 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA020450,UniProtKB:P40337#VAR_005762,OMIM:608537.0003 |
single nucleotide variant | NM_000551.4(VHL):c.481C>T (p.Arg161Ter) | VHL | Pathogenic | 3 | 10191488 | 10191488 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA020408,OMIM:608537.0006 |
single nucleotide variant | NM_000551.4(VHL):c.548C>A (p.Ser183Ter) | VHL | Pathogenic | 3 | 10191555 | 10191555 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA020473,OMIM:608537.0002 |