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.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.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.497T>A (p.Val166Asp) | VHL | Pathogenic | 3 | 10191504 | 10191504 | T | A | criteria provided, single submitter | - |
Duplication | NM_000551.4(VHL):c.477dup (p.Glu160fs) | VHL | Pathogenic | 3 | 10191481 | 10191482 | G | GA | criteria provided, single submitter | - |
Deletion | NM_000551.4(VHL):c.462del (p.Val155fs) | VHL | Pathogenic/Likely pathogenic | 3 | 10188319 | 10188319 | CA | C | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_000551.4(VHL):c.445dup (p.Ala149fs) | VHL | Pathogenic | 3 | 10188301 | 10188302 | T | TG | criteria provided, single submitter | - |
single nucleotide variant | NM_000551.4(VHL):c.433C>T (p.Gln145Ter) | VHL | Pathogenic | 3 | 10188290 | 10188290 | C | T | criteria provided, single submitter | - |
Deletion | NM_000551.4(VHL):c.433_439del (p.Gln145fs) | VHL | Pathogenic/Likely pathogenic | 3 | 10188289 | 10188295 | GACAGCCT | G | criteria provided, multiple submitters, no conflicts | - |