single nucleotide variant | NM_000238.4(KCNH2):c.139G>T (p.Gly47Cys) | KCNH2 | Pathogenic/Likely pathogenic | 7 | 150671967 | 150671967 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA004565 |
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 |
Indel | NM_000238.4(KCNH2):c.146_147delinsAA (p.Cys49Ter) | KCNH2 | Pathogenic | 7 | 150671959 | 150671960 | GC | TT | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000238.4(KCNH2):c.147C>G (p.Cys49Trp) | KCNH2 | Pathogenic | 7 | 150671959 | 150671959 | G | C | criteria provided, single submitter | ClinGen:CA004708 |
Deletion | NM_000238.4(KCNH2):c.154del (p.Cys52fs) | KCNH2 | Pathogenic | 7 | 150671952 | 150671952 | CA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA004782 |
single nucleotide variant | NM_000238.4(KCNH2):c.156C>A (p.Cys52Ter) | KCNH2 | Pathogenic | 7 | 150671950 | 150671950 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000238.4(KCNH2):c.157G>C (p.Gly53Arg) | KCNH2 | Pathogenic/Likely pathogenic | 7 | 150671949 | 150671949 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA004831,UniProtKB:Q12809#VAR_008909 |
single nucleotide variant | NM_000238.4(KCNH2):c.158G>A (p.Gly53Asp) | KCNH2 | Pathogenic | 7 | 150671948 | 150671948 | C | T | criteria provided, single submitter | ClinGen:CA004864,UniProtKB:Q12809#VAR_074773 |
single nucleotide variant | NM_000238.4(KCNH2):c.162C>G (p.Tyr54Ter) | KCNH2 | Pathogenic | 7 | 150671944 | 150671944 | G | C | criteria provided, single submitter | ClinGen:CA369865774 |
single nucleotide variant | NM_000238.4(KCNH2):c.162C>A (p.Tyr54Ter) | KCNH2 | Likely pathogenic | 7 | 150671944 | 150671944 | G | T | criteria provided, single submitter | ClinGen:CA369865776 |