single nucleotide variant | NM_000551.4(VHL):c.193T>C (p.Ser65Pro) | VHL | Pathogenic | 3 | 10183724 | 10183724 | T | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000551.4(VHL):c.194C>G (p.Ser65Trp) | VHL | Pathogenic | 3 | 10183725 | 10183725 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA020099,UniProtKB:P40337#VAR_005673 |
single nucleotide variant | NM_000551.4(VHL):c.194C>T (p.Ser65Leu) | VHL | Pathogenic | 3 | 10183725 | 10183725 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA020104,UniProtKB:P40337#VAR_005672 |
single nucleotide variant | NM_000551.4(VHL):c.194C>A (p.Ser65Ter) | VHL | Pathogenic | 3 | 10183725 | 10183725 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA357085 |
single nucleotide variant | NM_000551.4(VHL):c.203C>A (p.Ser68Ter) | VHL | Pathogenic | 3 | 10183734 | 10183734 | C | A | criteria provided, single submitter | ClinGen:CA357051 |
single nucleotide variant | NM_000551.4(VHL):c.208G>A (p.Glu70Lys) | VHL | Pathogenic/Likely pathogenic | 3 | 10183739 | 10183739 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA020108,UniProtKB:P40337#VAR_005676 |
single nucleotide variant | NM_000551.4(VHL):c.208G>T (p.Glu70Ter) | VHL | Pathogenic | 3 | 10183739 | 10183739 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16602179 |
single nucleotide variant | NM_000551.4(VHL):c.214T>C (p.Ser72Pro) | VHL | Pathogenic/Likely pathogenic | 3 | 10183745 | 10183745 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA357006 |
single nucleotide variant | NM_000551.4(VHL):c.217C>T (p.Gln73Ter) | VHL | Pathogenic | 3 | 10183748 | 10183748 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA357036 |
Deletion | NM_000551.4(VHL):c.219_220del (p.Gln73fs) | VHL | Pathogenic | 3 | 10183750 | 10183751 | AGG | A | criteria provided, single submitter | ClinGen:CA020116 |