single nucleotide variant | NM_000551.4(VHL):c.583C>T (p.Gln195Ter) | VHL | Pathogenic | 3 | 10191590 | 10191590 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA70052558 |
single nucleotide variant | NM_000551.4(VHL):c.581T>G (p.Val194Gly) | VHL | Pathogenic/Likely pathogenic | 3 | 10191588 | 10191588 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA351756475 |
single nucleotide variant | NM_000551.4(VHL):c.571C>G (p.His191Asp) | VHL | Likely pathogenic | 3 | 10191578 | 10191578 | C | G | criteria provided, single submitter | ClinGen:CA020495,UniProtKB:P40337#VAR_034999,OMIM:608537.0024 |
Deletion | NM_000551.4(VHL):c.565del (p.Glu189fs) | VHL | Likely pathogenic | 3 | 10191571 | 10191571 | TG | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000551.4(VHL):c.563T>C (p.Leu188Pro) | VHL | Pathogenic/Likely pathogenic | 3 | 10191570 | 10191570 | T | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000551.4(VHL):c.563T>A (p.Leu188Gln) | VHL | Likely pathogenic | 3 | 10191570 | 10191570 | T | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000551.4(VHL):c.562C>G (p.Leu188Val) | VHL | Pathogenic/Likely pathogenic | 3 | 10191569 | 10191569 | C | G | criteria provided, multiple submitters, no conflicts | OMIM:608537.0014,ClinGen:CA020488,UniProtKB:P40337#VAR_005777 |
single nucleotide variant | NM_000551.4(VHL):c.556G>T (p.Glu186Ter) | VHL | Likely pathogenic | 3 | 10191563 | 10191563 | G | T | criteria provided, single submitter | ClinGen:CA16604432 |
single nucleotide variant | NM_000551.4(VHL):c.555C>G (p.Tyr185Ter) | VHL | Pathogenic/Likely pathogenic | 3 | 10191562 | 10191562 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA357075 |
single nucleotide variant | NM_000551.4(VHL):c.551T>C (p.Leu184Pro) | VHL | Pathogenic/Likely pathogenic | 3 | 10191558 | 10191558 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16617792 |