single nucleotide variant | NM_000335.5(SCN5A):c.2657A>C (p.His886Pro) | SCN5A | Likely pathogenic | 3 | 38627312 | 38627312 | T | G | criteria provided, single submitter | ClinGen:CA016358,UniProtKB:Q14524#VAR_074389 |
single nucleotide variant | NM_000335.5(SCN5A):c.2204C>A (p.Ala735Glu) | SCN5A | Likely pathogenic | 3 | 38639278 | 38639278 | G | T | criteria provided, single submitter | ClinGen:CA015938,UniProtKB:Q14524#VAR_026360 |
single nucleotide variant | NM_000335.5(SCN5A):c.1120T>G (p.Trp374Gly) | SCN5A | Likely pathogenic | 3 | 38648180 | 38648180 | A | C | criteria provided, single submitter | ClinGen:CA014359,UniProtKB:Q14524#VAR_074347 |
single nucleotide variant | NM_000335.5(SCN5A):c.1058C>T (p.Thr353Ile) | SCN5A | Likely pathogenic | 3 | 38648242 | 38648242 | G | A | criteria provided, single submitter | ClinGen:CA014257,UniProtKB:Q14524#VAR_055168 |
single nucleotide variant | NM_000238.4(KCNH2):c.92T>C (p.Ile31Thr) | KCNH2 | Likely pathogenic | 7 | 150672014 | 150672014 | A | G | criteria provided, single submitter | ClinGen:CA008995 |
single nucleotide variant | NM_000238.4(KCNH2):c.916G>T (p.Gly306Trp) | KCNH2 | Likely pathogenic | 7 | 150655147 | 150655147 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA008988 |
single nucleotide variant | NM_000238.4(KCNH2):c.916G>C (p.Gly306Arg) | KCNH2 | Likely pathogenic | 7 | 150655147 | 150655147 | C | G | criteria provided, single submitter | ClinGen:CA008981 |
single nucleotide variant | NM_000238.4(KCNH2):c.254C>T (p.Ala85Val) | KCNH2 | Likely pathogenic | 7 | 150671852 | 150671852 | G | A | criteria provided, single submitter | ClinGen:CA006934,UniProtKB:Q12809#VAR_068252 |
single nucleotide variant | NM_000238.4(KCNH2):c.2509G>T (p.Asp837Tyr) | KCNH2 | Likely pathogenic | 7 | 150646027 | 150646027 | C | A | criteria provided, single submitter | ClinGen:CA006879,UniProtKB:Q12809#VAR_074883 |
single nucleotide variant | NM_000238.4(KCNH2):c.2362G>A (p.Glu788Lys) | KCNH2 | Likely pathogenic | 7 | 150647292 | 150647292 | C | T | criteria provided, single submitter | ClinGen:CA006501,UniProtKB:Q12809#VAR_074877 |