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>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.193T>C (p.Ser65Pro) | VHL | Pathogenic | 3 | 10183724 | 10183724 | T | C | criteria provided, single submitter | - |
Deletion | NM_000551.4(VHL):c.192del (p.Ser65fs) | VHL | Pathogenic/Likely pathogenic | 3 | 10183723 | 10183723 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA020094 |
single nucleotide variant | NM_000551.4(VHL):c.191G>C (p.Arg64Pro) | VHL | Pathogenic/Likely pathogenic | 3 | 10183722 | 10183722 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA020089,UniProtKB:P40337#VAR_034988,OMIM:608537.0015 |
Duplication | NM_000551.4(VHL):c.189dup (p.Arg64fs) | VHL | Pathogenic/Likely pathogenic | 3 | 10183719 | 10183720 | T | TG | criteria provided, multiple submitters, no conflicts | ClinGen:CA658683297 |
Deletion | NM_000551.4(VHL):c.179_192del (p.Arg60fs) | VHL | Pathogenic/Likely pathogenic | 3 | 10183707 | 10183720 | CCGCGGCCCGTGCTG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16617784 |
Deletion | NM_000551.4(VHL):c.180del (p.Val62fs) | VHL | Pathogenic | 3 | 10183710 | 10183710 | CG | C | criteria provided, single submitter | ClinGen:CA020069 |
Deletion | NM_000551.4(VHL):c.163del (p.Glu55fs) | VHL | Pathogenic | 3 | 10183693 | 10183693 | TG | T | criteria provided, single submitter | ClinGen:CA432536363 |
Duplication | NM_000551.4(VHL):c.164_171dup (p.Arg60fs) | VHL | Pathogenic | 3 | 10183692 | 10183693 | T | TGGAGGCCG | criteria provided, multiple submitters, no conflicts | ClinGen:CA10602889 |