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 |
Deletion | NM_000551.4(VHL):c.547del (p.Ser183fs) | VHL | Likely pathogenic | 3 | 10191554 | 10191554 | GT | G | criteria provided, single submitter | - |
Duplication | NM_000551.4(VHL):c.543dup (p.Arg182fs) | VHL | Pathogenic | 3 | 10191549 | 10191550 | T | TC | criteria provided, single submitter | ClinGen:CA645369326 |
Deletion | NM_000551.4(VHL):c.540_543del (p.Val181fs) | VHL | Pathogenic | 3 | 10191547 | 10191550 | TCGTC | T | criteria provided, single submitter | ClinGen:CA357022 |
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 | - |
Deletion | NM_000551.4(VHL):c.533_534del (p.Leu178fs) | VHL | Pathogenic | 3 | 10191540 | 10191541 | CTG | C | criteria provided, multiple submitters, no conflicts | - |
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 |
single nucleotide variant | NM_000551.4(VHL):c.529A>T (p.Arg177Ter) | VHL | Pathogenic | 3 | 10191536 | 10191536 | A | T | criteria provided, single submitter | - |