single nucleotide variant | NM_017849.4(TMEM127):c.410-2A>C | TMEM127 | Pathogenic | 2 | 96919855 | 96919855 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA113854,OMIM:613403.0001 |
single nucleotide variant | NM_017849.4(TMEM127):c.475C>T (p.Gln159Ter) | TMEM127 | Pathogenic | 2 | 96919788 | 96919788 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA113855,OMIM:613403.0002 |
single nucleotide variant | NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg) | SDHAF2 | Pathogenic | 11 | 61205292 | 61205292 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA017320,UniProtKB:Q9NX18#VAR_058705,OMIM:613019.0001 |
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 |
single nucleotide variant | NM_000551.4(VHL):c.481C>T (p.Arg161Ter) | VHL | Pathogenic | 3 | 10191488 | 10191488 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA020408,OMIM:608537.0006 |
single nucleotide variant | NM_000551.4(VHL):c.499C>T (p.Arg167Trp) | VHL | Pathogenic | 3 | 10191506 | 10191506 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA020450,UniProtKB:P40337#VAR_005762,OMIM:608537.0003 |
single nucleotide variant | NM_000551.4(VHL):c.499C>G (p.Arg167Gly) | VHL | Pathogenic | 3 | 10191506 | 10191506 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA020446,UniProtKB:P40337#VAR_005760,OMIM:608537.0004 |
single nucleotide variant | NM_000551.4(VHL):c.334T>C (p.Tyr112His) | VHL | Pathogenic | 3 | 10183865 | 10183865 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA020277,UniProtKB:P40337#VAR_005717,OMIM:608537.0012 |
single nucleotide variant | NM_000551.4(VHL):c.292T>C (p.Tyr98His) | VHL | Pathogenic | 3 | 10183823 | 10183823 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA020246,UniProtKB:P40337#VAR_005707,OMIM:608537.0009 |
single nucleotide variant | NM_000551.4(VHL):c.496G>T (p.Val166Phe) | VHL | Pathogenic | 3 | 10191503 | 10191503 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA020436,UniProtKB:P40337#VAR_005759,OMIM:608537.0013 |