single nucleotide variant | NM_000218.3(KCNQ1):c.477+1G>A | KCNQ1 | Pathogenic | 11 | 2549249 | 2549249 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA007168 |
single nucleotide variant | NM_000218.3(KCNQ1):c.477+5G>A | KCNQ1 | Pathogenic | 11 | 2549253 | 2549253 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA007174 |
single nucleotide variant | NM_000218.3(KCNQ1):c.477+5G>C | KCNQ1 | Likely pathogenic | 11 | 2549253 | 2549253 | G | C | criteria provided, single submitter | ClinGen:CA007183 |
Deletion | NC_000011.10:g.(?_2527908)_(2528038_?)del | KCNQ1 | Pathogenic | 11 | 2549138 | 2549268 | na | na | criteria provided, single submitter | - |
Deletion | NM_000218.3(KCNQ1):c.488del (p.Leu163fs) | KCNQ1 | Pathogenic/Likely pathogenic | 11 | 2591868 | 2591868 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA007232 |
single nucleotide variant | NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg) | KCNQ1 | Pathogenic | 11 | 2591882 | 2591882 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA007263,UniProtKB:P51787#VAR_001516 |
single nucleotide variant | NM_000218.3(KCNQ1):c.502G>C (p.Gly168Arg) | KCNQ1 | Pathogenic | 11 | 2591882 | 2591882 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA007272,UniProtKB:P51787#VAR_001516 |
Deletion | NM_000218.3(KCNQ1):c.504del (p.Thr169fs) | KCNQ1 | Pathogenic | 11 | 2591882 | 2591882 | CG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA007282 |
single nucleotide variant | NM_000218.3(KCNQ1):c.506C>G (p.Thr169Arg) | KCNQ1 | Likely pathogenic | 11 | 2591886 | 2591886 | C | G | criteria provided, single submitter | ClinGen:CA007290 |
Deletion | NM_000218.3(KCNQ1):c.510del (p.Glu170fs) | KCNQ1 | Pathogenic | 11 | 2591890 | 2591890 | AG | A | criteria provided, single submitter | ClinGen:CA658797566 |