single nucleotide variant | NM_000551.4(VHL):c.257C>T (p.Pro86Leu) | VHL | Pathogenic | 3 | 10183788 | 10183788 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA020186,UniProtKB:P40337#VAR_005694 |
single nucleotide variant | NM_000551.4(VHL):c.263G>A (p.Trp88Ter) | VHL | Pathogenic | 3 | 10183794 | 10183794 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA020197 |
single nucleotide variant | NM_000551.4(VHL):c.266T>C (p.Leu89Pro) | VHL | Pathogenic/Likely pathogenic | 3 | 10183797 | 10183797 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA020207,UniProtKB:P40337#VAR_005700 |
single nucleotide variant | NM_000551.4(VHL):c.340+1G>C | VHL | Pathogenic/Likely pathogenic | 3 | 10183872 | 10183872 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA020282 |
single nucleotide variant | NM_000551.4(VHL):c.473T>C (p.Leu158Pro) | VHL | Pathogenic | 3 | 10191480 | 10191480 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA020399,UniProtKB:P40337#VAR_005748 |
Deletion | NM_000551.4(VHL):c.477del (p.Glu160fs) | VHL | Pathogenic | 3 | 10191482 | 10191482 | GA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA020404 |
single nucleotide variant | NM_000551.4(VHL):c.482G>A (p.Arg161Gln) | VHL | Pathogenic | 3 | 10191489 | 10191489 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA020413,UniProtKB:P40337#VAR_005751 |
single nucleotide variant | NM_000551.4(VHL):c.525C>G (p.Tyr175Ter) | VHL | Pathogenic | 3 | 10191532 | 10191532 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA020466 |
single nucleotide variant | NM_000551.4(VHL):c.238A>G (p.Ser80Gly) | VHL | Pathogenic/Likely pathogenic | 3 | 10183769 | 10183769 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA020142 |
single nucleotide variant | NM_000551.4(VHL):c.245G>C (p.Arg82Pro) | VHL | Pathogenic | 3 | 10183776 | 10183776 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA020159,UniProtKB:P40337#VAR_005690 |