single nucleotide variant | NM_000218.3(KCNQ1):c.513C>G (p.Tyr171Ter) | KCNQ1 | Pathogenic | 11 | 2591893 | 2591893 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA007295 |
single nucleotide variant | NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter) | KCNQ1 | Pathogenic/Likely pathogenic | 11 | 2591893 | 2591893 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10588516 |
Duplication | NM_000218.3(KCNQ1):c.524_534dup (p.Gly179fs) | KCNQ1 | Pathogenic/Likely pathogenic | 11 | 2591894 | 2591895 | G | GTGGTCCGCCTC | criteria provided, multiple submitters, no conflicts | ClinGen:CA10586242 |
single nucleotide variant | NM_000218.3(KCNQ1):c.518T>A (p.Val173Asp) | KCNQ1 | Pathogenic | 11 | 2591898 | 2591898 | T | A | criteria provided, single submitter | ClinGen:CA007313,UniProtKB:P51787#VAR_074941 |
single nucleotide variant | NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys) | KCNQ1 | Pathogenic/Likely pathogenic | 11 | 2591900 | 2591900 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA007321,UniProtKB:P51787#VAR_001517 |
single nucleotide variant | NM_000218.3(KCNQ1):c.521G>A (p.Arg174His) | KCNQ1 | Pathogenic/Likely pathogenic | 11 | 2591901 | 2591901 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA007329,UniProtKB:P51787#VAR_008939 |
single nucleotide variant | NM_000218.3(KCNQ1):c.521G>C (p.Arg174Pro) | KCNQ1 | Likely pathogenic | 11 | 2591901 | 2591901 | G | C | criteria provided, single submitter | ClinGen:CA007337,UniProtKB:P51787#VAR_074942 |
single nucleotide variant | NM_000218.3(KCNQ1):c.521G>T (p.Arg174Leu) | KCNQ1 | Pathogenic/Likely pathogenic | 11 | 2591901 | 2591901 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA007345 |
Deletion | NM_000218.3(KCNQ1):c.524_534del (p.Leu175fs) | KCNQ1 | Pathogenic/Likely pathogenic | 11 | 2591895 | 2591905 | GTGGTCCGCCTC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA5822077 |
single nucleotide variant | NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) | KCNQ1 | Pathogenic/Likely pathogenic | 11 | 2591912 | 2591912 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA007353,UniProtKB:P51787#VAR_009920 |