single nucleotide variant | NM_002524.5(NRAS):c.175G>A (p.Ala59Thr) | NRAS | Pathogenic/Likely pathogenic | 1 | 115256536 | 115256536 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA297023 |
single nucleotide variant | NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) | RIT1 | Pathogenic | 1 | 155874589 | 155874589 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA144537,UniProtKB:Q92963#VAR_070150,OMIM:609591.0001 |
single nucleotide variant | NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) | RIT1 | Pathogenic | 1 | 155874247 | 155874247 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA144538,UniProtKB:Q92963#VAR_070157,OMIM:609591.0004 |
single nucleotide variant | NM_006912.6(RIT1):c.270G>A (p.Met90Ile) | RIT1 | Pathogenic/Likely pathogenic | 1 | 155874261 | 155874261 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA150798,UniProtKB:Q92963#VAR_070156 |
single nucleotide variant | NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) | NRAS | Pathogenic | 1 | 115258748 | 115258748 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA180753 |
single nucleotide variant | NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) | RIT1 | Pathogenic/Likely pathogenic | 1 | 155874285 | 155874285 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA297161,UniProtKB:Q92963#VAR_070152,OMIM:609591.0003 |
single nucleotide variant | NM_006912.6(RIT1):c.265T>C (p.Tyr89His) | RIT1 | Pathogenic | 1 | 155874266 | 155874266 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA353873,UniProtKB:Q92963#VAR_070155 |
single nucleotide variant | NM_006912.6(RIT1):c.251C>T (p.Ala84Val) | RIT1 | Pathogenic/Likely pathogenic | 1 | 155874280 | 155874280 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA353881 |
single nucleotide variant | NM_006912.6(RIT1):c.247A>C (p.Thr83Pro) | RIT1 | Pathogenic | 1 | 155874284 | 155874284 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA353876,UniProtKB:Q92963#VAR_070154 |
single nucleotide variant | NM_006912.6(RIT1):c.244T>G (p.Phe82Val) | RIT1 | Pathogenic | 1 | 155874287 | 155874287 | A | C | criteria provided, multiple submitters, no conflicts | UniProtKB:Q92963#VAR_070153,OMIM:609591.0005,ClinGen:CA353883 |