single nucleotide variant | NM_000551.4(VHL):c.533T>G (p.Leu178Arg) | VHL | Pathogenic | 3 | 10191540 | 10191540 | T | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000551.4(VHL):c.533T>A (p.Leu178Gln) | VHL | Pathogenic | 3 | 10191540 | 10191540 | T | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000551.4(VHL):c.533T>C (p.Leu178Pro) | VHL | Pathogenic | 3 | 10191540 | 10191540 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA351756245 |
Indel | NM_000551.4(VHL):c.531_542delinsTC (p.Arg177fs) | VHL | Pathogenic/Likely pathogenic | 3 | 10191538 | 10191549 | ACTGGACATCGT | TC | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000551.4(VHL):c.529A>T (p.Arg177Ter) | VHL | Pathogenic | 3 | 10191536 | 10191536 | A | T | criteria provided, single submitter | - |
Deletion | NM_000551.4(VHL):c.526del (p.Arg176fs) | VHL | Pathogenic | 3 | 10191533 | 10191533 | CA | C | criteria provided, single submitter | - |
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.524A>G (p.Tyr175Cys) | VHL | Pathogenic/Likely pathogenic | 3 | 10191531 | 10191531 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA020462 |
single nucleotide variant | NM_000551.4(VHL):c.509T>A (p.Val170Asp) | VHL | Pathogenic/Likely pathogenic | 3 | 10191516 | 10191516 | T | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000551.4(VHL):c.506T>C (p.Leu169Pro) | VHL | Likely pathogenic | 3 | 10191513 | 10191513 | T | C | criteria provided, single submitter | ClinGen:CA351756191 |