Deletion | NC_000011.10:g.(?_2570608)_(2573006_?)del | KCNQ1 | Pathogenic | 11 | 2591838 | 2594236 | na | na | criteria provided, single submitter | - |
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 |
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+1G>A | KCNQ1 | Pathogenic | 11 | 2549249 | 2549249 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA007168 |
Deletion | NM_000218.3(KCNQ1):c.451_452del (p.Leu151fs) | KCNQ1 | Pathogenic | 11 | 2549222 | 2549223 | CCT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA007133,OMIM:607542.0022 |
Deletion | NM_000218.3(KCNQ1):c.443del (p.Tyr148fs) | KCNQ1 | Pathogenic | 11 | 2549214 | 2549214 | TA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10575750 |
Deletion | NM_000218.3(KCNQ1):c.425del (p.Leu142fs) | KCNQ1 | Pathogenic/Likely pathogenic | 11 | 2549196 | 2549196 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA007054 |
single nucleotide variant | NM_000218.3(KCNQ1):c.421G>A (p.Val141Met) | KCNQ1 | Pathogenic | 11 | 2549192 | 2549192 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA007045,OMIM:607542.0045 |
Deletion | NM_000218.3(KCNQ1):c.403del (p.Val135fs) | KCNQ1 | Pathogenic/Likely pathogenic | 11 | 2549173 | 2549173 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA007001 |
single nucleotide variant | NM_000218.3(KCNQ1):c.387-5T>A | KCNQ1 | Likely pathogenic | 11 | 2549153 | 2549153 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA006957 |