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 |
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.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.499C>G (p.Arg167Gly) | VHL | Pathogenic | 3 | 10191506 | 10191506 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA020446,UniProtKB:P40337#VAR_005760,OMIM:608537.0004 |
single nucleotide variant | NM_000551.4(VHL):c.334T>C (p.Tyr112His) | VHL | Pathogenic | 3 | 10183865 | 10183865 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA020277,UniProtKB:P40337#VAR_005717,OMIM:608537.0012 |
single nucleotide variant | NM_000551.4(VHL):c.292T>C (p.Tyr98His) | VHL | Pathogenic | 3 | 10183823 | 10183823 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA020246,UniProtKB:P40337#VAR_005707,OMIM:608537.0009 |
single nucleotide variant | NM_000551.4(VHL):c.496G>T (p.Val166Phe) | VHL | Pathogenic | 3 | 10191503 | 10191503 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA020436,UniProtKB:P40337#VAR_005759,OMIM:608537.0013 |
single nucleotide variant | NM_000551.4(VHL):c.562C>G (p.Leu188Val) | VHL | Pathogenic/Likely pathogenic | 3 | 10191569 | 10191569 | C | G | criteria provided, multiple submitters, no conflicts | OMIM:608537.0014,ClinGen:CA020488,UniProtKB:P40337#VAR_005777 |
single nucleotide variant | NM_000551.4(VHL):c.191G>C (p.Arg64Pro) | VHL | Pathogenic/Likely pathogenic | 3 | 10183722 | 10183722 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA020089,UniProtKB:P40337#VAR_034988,OMIM:608537.0015 |
single nucleotide variant | NM_000551.4(VHL):c.334T>A (p.Tyr112Asn) | VHL | Pathogenic | 3 | 10183865 | 10183865 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA020273,UniProtKB:P40337#VAR_034992,OMIM:608537.0017 |