Deletion | NM_000551.4(VHL):c.292_295del (p.Tyr98fs) | VHL | Pathogenic | 3 | 10183821 | 10183824 | CCCTA | C | criteria provided, single submitter | - |
Duplication | NM_000551.4(VHL):c.258dup (p.Val87fs) | VHL | Pathogenic | 3 | 10183786 | 10183787 | G | GC | criteria provided, single submitter | - |
single nucleotide variant | NM_000551.4(VHL):c.239G>T (p.Ser80Ile) | VHL | Pathogenic | 3 | 10183770 | 10183770 | G | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000551.4(VHL):c.239_261del (p.Ser80fs) | VHL | Pathogenic | 3 | 10183769 | 10183791 | CAGTCCGCGCGTCGTGCTGCCCGT | C | criteria provided, single submitter | - |
Deletion | NM_000551.4(VHL):c.233del (p.Asn78fs) | VHL | Pathogenic | 3 | 10183763 | 10183763 | CA | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000551.4(VHL):c.232A>G (p.Asn78Asp) | VHL | Pathogenic/Likely pathogenic | 3 | 10183763 | 10183763 | A | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000551.4(VHL):c.232A>C (p.Asn78His) | VHL | Pathogenic | 3 | 10183763 | 10183763 | A | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000551.4(VHL):c.492G>C (p.Gln164His) | VHL | Pathogenic/Likely pathogenic | 3 | 10191499 | 10191499 | G | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000551.4(VHL):c.481C>G (p.Arg161Gly) | VHL | Pathogenic | 3 | 10191488 | 10191488 | C | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000551.4(VHL):c.280G>T (p.Glu94Ter) | VHL | Pathogenic | 3 | 10183811 | 10183811 | G | T | criteria provided, multiple submitters, no conflicts | - |