Deletion | NM_000238.4(KCNH2):c.234_241del (p.Ala79fs) | KCNH2 | Pathogenic | 7 | 150671865 | 150671872 | TGCGCGGCA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10587645 |
Duplication | NM_000238.4(KCNH2):c.234_250dup (p.Gln84fs) | KCNH2 | Pathogenic | 7 | 150671855 | 150671856 | T | TGCGCGATCTGCGCGGCA | criteria provided, single submitter | - |
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.257T>G (p.Leu86Arg) | KCNH2 | Pathogenic | 7 | 150671849 | 150671849 | A | C | criteria provided, single submitter | ClinGen:CA006969,UniProtKB:Q12809#VAR_008914 |
single nucleotide variant | NM_000238.4(KCNH2):c.301A>T (p.Lys101Ter) | KCNH2 | Pathogenic | 7 | 150671805 | 150671805 | T | A | criteria provided, single submitter | ClinGen:CA007825 |
single nucleotide variant | NM_000238.4(KCNH2):c.303A>T (p.Lys101Asn) | KCNH2 | Pathogenic | 7 | 150671803 | 150671803 | T | A | criteria provided, single submitter | ClinGen:CA007841 |
Indel | NM_000238.4(KCNH2):c.307_307+1delinsTT | KCNH2 | Pathogenic | 7 | 150671798 | 150671799 | CC | AA | criteria provided, multiple submitters, no conflicts | ClinGen:CA658797053 |
Deletion | NC_000007.14:g.(?_150959552)_(150959756_?)del | KCNH2 | Pathogenic | 7 | 150656640 | 150656844 | na | na | criteria provided, single submitter | - |
Deletion | NC_000007.14:g.(?_150959562)_(150959746_?)del | KCNH2 | Pathogenic | 7 | 150656650 | 150656834 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000238.4(KCNH2):c.308-2A>G | KCNH2 | Likely pathogenic | 7 | 150656826 | 150656826 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16605176 |