single nucleotide variant | NM_000238.4(KCNH2):c.125T>C (p.Ile42Thr) | KCNH2 | Pathogenic | 7 | 150671981 | 150671981 | A | G | criteria provided, single submitter | ClinGen:CA004336 |
single nucleotide variant | NM_000238.4(KCNH2):c.121G>C (p.Val41Leu) | KCNH2 | Likely pathogenic | 7 | 150671985 | 150671985 | C | G | criteria provided, single submitter | ClinGen:CA16042697 |
single nucleotide variant | NM_000238.4(KCNH2):c.119C>T (p.Ala40Val) | KCNH2 | Likely pathogenic | 7 | 150671987 | 150671987 | G | A | criteria provided, single submitter | ClinGen:CA004270 |
Deletion | NM_000238.4(KCNH2):c.106del (p.Val36fs) | KCNH2 | Pathogenic | 7 | 150672000 | 150672000 | AC | A | criteria provided, single submitter | ClinGen:CA004203 |
Deletion | NM_000238.4(KCNH2):c.100del (p.Ala34fs) | KCNH2 | Pathogenic | 7 | 150672006 | 150672006 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA004165 |
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.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.87C>A (p.Phe29Leu) | KCNH2 | Pathogenic | 7 | 150672019 | 150672019 | G | T | criteria provided, single submitter | ClinGen:CA008941,UniProtKB:Q12809#VAR_008907 |
Deletion | NM_000238.4(KCNH2):c.84del (p.Lys28fs) | KCNH2 | Pathogenic | 7 | 150672022 | 150672022 | AC | A | criteria provided, single submitter | - |
Duplication | NM_000238.4(KCNH2):c.81dup (p.Lys28Ter) | KCNH2 | Pathogenic | 7 | 150672024 | 150672025 | T | TA | criteria provided, multiple submitters, no conflicts | ClinGen:CA305341 |