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.946G>A (p.Gly316Arg)	KCNQ1	Pathogenic/Likely pathogenic	11	2604689	2604689	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008823,UniProtKB:P51787#VAR_068307
single nucleotide variant	NM_000218.3(KCNQ1):c.949G>A (p.Asp317Asn)	KCNQ1	Pathogenic	11	2604692	2604692	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008869,UniProtKB:P51787#VAR_001534
single nucleotide variant	NM_000218.3(KCNQ1):c.959C>A (p.Pro320His)	KCNQ1	Pathogenic	11	2604702	2604702	C	A	criteria provided, single submitter	ClinGen:CA008917,UniProtKB:P51787#VAR_065778
single nucleotide variant	NM_000218.3(KCNQ1):c.964A>G (p.Thr322Ala)	KCNQ1	Pathogenic/Likely pathogenic	11	2604707	2604707	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA008936,UniProtKB:P51787#VAR_068308
single nucleotide variant	NM_000218.3(KCNQ1):c.965C>A (p.Thr322Lys)	KCNQ1	Likely pathogenic	11	2604708	2604708	C	A	criteria provided, single submitter	ClinGen:CA008945
single nucleotide variant	NM_000218.3(KCNQ1):c.965C>T (p.Thr322Met)	KCNQ1	Pathogenic	11	2604708	2604708	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008957,UniProtKB:P51787#VAR_074692
single nucleotide variant	NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg)	KCNQ1	Pathogenic	11	2604716	2604716	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008972,UniProtKB:P51787#VAR_001536
single nucleotide variant	NM_000218.3(KCNQ1):c.1022C>G (p.Ala341Gly)	KCNQ1	Pathogenic/Likely pathogenic	11	2604765	2604765	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA004889,UniProtKB:P51787#VAR_074985
single nucleotide variant	NM_000218.3(KCNQ1):c.1031C>A (p.Ala344Glu)	KCNQ1	Pathogenic/Likely pathogenic	11	2604774	2604774	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004955,UniProtKB:P51787#VAR_068310
single nucleotide variant	NM_000218.3(KCNQ1):c.1565A>C (p.Tyr522Ser)	KCNQ1	Pathogenic/Likely pathogenic	11	2790124	2790124	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA005936,UniProtKB:P51787#VAR_075013