single nucleotide variant | NM_000238.4(KCNH2):c.31C>T (p.Gln11Ter) | KCNH2 | Pathogenic | 7 | 150674971 | 150674971 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA008102 |
Deletion | NM_000238.4(KCNH2):c.46del (p.Asp16fs) | KCNH2 | Pathogenic | 7 | 150674956 | 150674956 | TC | T | criteria provided, single submitter | - |
Duplication | NM_000238.4(KCNH2):c.66dup (p.Glu23Ter) | KCNH2 | Pathogenic/Likely pathogenic | 7 | 150674935 | 150674936 | C | CA | criteria provided, multiple submitters, no conflicts | ClinGen:CA658797054 |
single nucleotide variant | NM_000238.4(KCNH2):c.76+2T>G | KCNH2 | Pathogenic | 7 | 150674924 | 150674924 | A | C | criteria provided, single submitter | ClinGen:CA008788 |
single nucleotide variant | NM_000238.4(KCNH2):c.77-1G>A | KCNH2 | Likely pathogenic | 7 | 150672030 | 150672030 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA008799 |
Duplication | NM_000238.4(KCNH2):c.81dup (p.Lys28Ter) | KCNH2 | Pathogenic | 7 | 150672024 | 150672025 | T | TA | criteria provided, multiple submitters, no conflicts | ClinGen:CA305341 |
Deletion | NM_000238.4(KCNH2):c.84del (p.Lys28fs) | KCNH2 | Pathogenic | 7 | 150672022 | 150672022 | AC | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000238.4(KCNH2):c.87C>A (p.Phe29Leu) | KCNH2 | Pathogenic | 7 | 150672019 | 150672019 | G | T | criteria provided, single submitter | ClinGen:CA008941,UniProtKB:Q12809#VAR_008907 |
single nucleotide variant | NM_000238.4(KCNH2):c.92T>A (p.Ile31Asn) | KCNH2 | Likely pathogenic | 7 | 150672014 | 150672014 | A | T | criteria provided, single submitter | ClinGen:CA369865998 |
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 |