single nucleotide variant | NM_006912.6(RIT1):c.69A>C (p.Lys23Asn) | RIT1 | Pathogenic | 1 | 155880484 | 155880484 | T | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_006912.6(RIT1):c.104G>C (p.Ser35Thr) | RIT1 | Pathogenic | 1 | 155880449 | 155880449 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA353872,UniProtKB:Q92963#VAR_070149 |
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.229G>T (p.Ala77Ser) | RIT1 | Pathogenic | 1 | 155874530 | 155874530 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_006912.6(RIT1):c.229G>C (p.Ala77Pro) | RIT1 | Pathogenic/Likely pathogenic | 1 | 155874530 | 155874530 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576360 |
single nucleotide variant | NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) | RIT1 | Pathogenic/Likely pathogenic | 1 | 155874530 | 155874530 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA353870 |
single nucleotide variant | NM_006912.6(RIT1):c.233G>A (p.Gly78Glu) | RIT1 | Likely pathogenic | 1 | 155874526 | 155874526 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) | RIT1 | Pathogenic/Likely pathogenic | 1 | 155874289 | 155874289 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA353880,UniProtKB:Q92963#VAR_070151,OMIM:609591.0002 |
single nucleotide variant | NM_006912.6(RIT1):c.244T>A (p.Phe82Ile) | RIT1 | Pathogenic | 1 | 155874287 | 155874287 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA353868 |
single nucleotide variant | NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) | RIT1 | Pathogenic | 1 | 155874287 | 155874287 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA353877,UniProtKB:Q92963#VAR_070152 |