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
Deletion	NM_000218.3(KCNQ1):c.1534del (p.Ala512fs)	KCNQ1	Pathogenic	11	2790091	2790091	CG	C	criteria provided, single submitter	ClinGen:CA658683667
single nucleotide variant	NM_000218.3(KCNQ1):c.5C>G (p.Ala2Gly)	KCNQ1	Likely pathogenic	11	2466333	2466333	C	G	criteria provided, single submitter	ClinGen:CA379115683
Deletion	NM_000218.3(KCNQ1):c.1325del (p.His442fs)	KCNQ1	Pathogenic	11	2610016	2610016	CA	C	criteria provided, single submitter	ClinGen:CA645372890
single nucleotide variant	NM_000218.3(KCNQ1):c.556G>T (p.Gly186Cys)	KCNQ1	Likely pathogenic	11	2591936	2591936	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA379129938
Deletion	NM_000218.3(KCNQ1):c.733_734del (p.Gly245fs)	KCNQ1	Pathogenic	11	2593291	2593292	AGG	A	criteria provided, single submitter	ClinGen:CA658797567
Duplication	NM_000218.3(KCNQ1):c.1610_1614dup (p.Arg539fs)	KCNQ1	Pathogenic	11	2797207	2797208	C	CGATGT	criteria provided, single submitter	ClinGen:CA658658028
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
Duplication	NM_000218.3(KCNQ1):c.657dup (p.Gln220fs)	KCNQ1	Pathogenic	11	2592603	2592604	A	AG	criteria provided, single submitter	ClinGen:CA658656104
single nucleotide variant	NM_000218.3(KCNQ1):c.943T>C (p.Tyr315His)	KCNQ1	Pathogenic	11	2604686	2604686	T	C	criteria provided, single submitter	ClinGen:CA379132979
Deletion	NC_000011.10:g.(?_2570608)_(2573006_?)del	KCNQ1	Pathogenic	11	2591838	2594236	na	na	criteria provided, single submitter	-