Deletion | NM_000218.3(KCNQ1):c.165_187del (p.Gly57fs) | KCNQ1 | Pathogenic | 11 | 2466490 | 2466512 | TCGCGCCCGGCGCCCCAGGTCCCG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA006108 |
Deletion | NM_000218.3(KCNQ1):c.200del (p.Pro67fs) | KCNQ1 | Pathogenic | 11 | 2466525 | 2466525 | TC | T | criteria provided, single submitter | ClinGen:CA16613554 |
Deletion | NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs) | KCNQ1 | Pathogenic/Likely pathogenic | 11 | 2466525 | 2466535 | TCCCCGGCCGCG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656109 |
single nucleotide variant | NM_000218.3(KCNQ1):c.321G>T (p.Gln107His) | KCNQ1 | Likely pathogenic | 11 | 2466649 | 2466649 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000218.3(KCNQ1):c.332A>G (p.Tyr111Cys) | KCNQ1 | Pathogenic | 11 | 2466660 | 2466660 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA006810,UniProtKB:P51787#VAR_009918 |
single nucleotide variant | NM_000218.3(KCNQ1):c.341T>C (p.Leu114Pro) | KCNQ1 | Likely pathogenic | 11 | 2466669 | 2466669 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA006819 |
single nucleotide variant | NM_000218.3(KCNQ1):c.344A>G (p.Glu115Gly) | KCNQ1 | Likely pathogenic | 11 | 2466672 | 2466672 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA006838,UniProtKB:P51787#VAR_068288 |
single nucleotide variant | NM_000218.3(KCNQ1):c.349C>T (p.Pro117Ser) | KCNQ1 | Likely pathogenic | 11 | 2466677 | 2466677 | C | T | criteria provided, single submitter | ClinGen:CA10586353 |
single nucleotide variant | NM_000218.3(KCNQ1):c.350C>T (p.Pro117Leu) | KCNQ1 | Likely pathogenic | 11 | 2466678 | 2466678 | C | T | criteria provided, single submitter | ClinGen:CA006854,UniProtKB:P51787#VAR_074932,OMIM:607542.0030 |
Duplication | NM_000218.3(KCNQ1):c.364dup (p.Cys122fs) | KCNQ1 | Pathogenic/Likely pathogenic | 11 | 2466691 | 2466692 | A | AT | criteria provided, multiple submitters, no conflicts | ClinGen:CA277170 |