先天性QT延長症候群

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000218.3(KCNQ1):c.1031C>T (p.Ala344Val)	KCNQ1	Pathogenic/Likely pathogenic	11	2604774	2604774	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004967,UniProtKB:P51787#VAR_001541
single nucleotide variant	NM_000218.3(KCNQ1):c.1032+1G>A	KCNQ1	Pathogenic/Likely pathogenic	11	2604776	2604776	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004984
single nucleotide variant	NM_000218.3(KCNQ1):c.1032+5G>A	KCNQ1	Pathogenic/Likely pathogenic	11	2604780	2604780	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004997
single nucleotide variant	NM_000218.3(KCNQ1):c.1032G>C (p.Ala344=)	KCNQ1	Pathogenic	11	2604775	2604775	G	C	criteria provided, single submitter	ClinGen:CA005015
single nucleotide variant	NM_000218.3(KCNQ1):c.1033G>C (p.Gly345Arg)	KCNQ1	Pathogenic	11	2606442	2606442	G	C	criteria provided, single submitter	ClinGen:CA005053,UniProtKB:P51787#VAR_008126
single nucleotide variant	NM_000218.3(KCNQ1):c.1045T>C (p.Ser349Pro)	KCNQ1	Likely pathogenic	11	2606454	2606454	T	C	criteria provided, single submitter	ClinGen:CA005070,UniProtKB:P51787#VAR_074988
single nucleotide variant	NM_000218.3(KCNQ1):c.1046C>G (p.Ser349Trp)	KCNQ1	Pathogenic/Likely pathogenic	11	2606455	2606455	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA005079,UniProtKB:P51787#VAR_009928
single nucleotide variant	NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter)	KCNQ1	Pathogenic	11	2606475	2606475	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005143
single nucleotide variant	NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter)	KCNQ1	Pathogenic	11	2606484	2606484	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005174
single nucleotide variant	NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp)	KCNQ1	Pathogenic/Likely pathogenic	11	2606505	2606505	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005255,UniProtKB:P51787#VAR_008948