single nucleotide variant | NM_001037.5(SCN1B):c.254G>A (p.Arg85His) | SCN1B | Pathogenic/Likely pathogenic | 19 | 35524449 | 35524449 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA144661,UniProtKB:Q07699#VAR_070219,OMIM:600235.0006 |
single nucleotide variant | NM_001378969.1(KCND3):c.1054A>C (p.Thr352Pro) | KCND3 | Pathogenic | 1 | 112524295 | 112524295 | T | G | criteria provided, single submitter | ClinGen:CA264792,UniProtKB:Q9UK17#VAR_070788,OMIM:605411.0002 |
single nucleotide variant | NM_000238.4(KCNH2):c.1264G>A (p.Ala422Thr) | KCNH2 | Pathogenic | 7 | 150649806 | 150649806 | C | T | criteria provided, single submitter | ClinGen:CA004358,UniProtKB:Q12809#VAR_068260 |
single nucleotide variant | NM_000238.4(KCNH2):c.127T>G (p.Tyr43Asp) | KCNH2 | Pathogenic | 7 | 150671979 | 150671979 | A | C | criteria provided, single submitter | ClinGen:CA004378 |
single nucleotide variant | NM_000238.4(KCNH2):c.1280A>G (p.Tyr427Cys) | KCNH2 | Likely pathogenic | 7 | 150649790 | 150649790 | T | C | criteria provided, single submitter | ClinGen:CA004393,UniProtKB:Q12809#VAR_074811 |
single nucleotide variant | NM_000238.4(KCNH2):c.128A>G (p.Tyr43Cys) | KCNH2 | Pathogenic | 7 | 150671978 | 150671978 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA004427,UniProtKB:Q12809#VAR_074770 |
single nucleotide variant | NM_000238.4(KCNH2):c.140G>T (p.Gly47Val) | KCNH2 | Pathogenic | 7 | 150671966 | 150671966 | C | A | criteria provided, single submitter | ClinGen:CA004581,UniProtKB:Q12809#VAR_009909 |
single nucleotide variant | NM_000238.4(KCNH2):c.1421C>T (p.Thr474Ile) | KCNH2 | Pathogenic/Likely pathogenic | 7 | 150649649 | 150649649 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA004610,UniProtKB:Q12809#VAR_008917 |
single nucleotide variant | NM_000238.4(KCNH2):c.1478A>G (p.Tyr493Cys) | KCNH2 | Likely pathogenic | 7 | 150649592 | 150649592 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA004695,UniProtKB:Q12809#VAR_074821 |
single nucleotide variant | NM_000238.4(KCNH2):c.1501G>A (p.Asp501Asn) | KCNH2 | Pathogenic/Likely pathogenic | 7 | 150649569 | 150649569 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA004728,UniProtKB:Q12809#VAR_074824 |