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.739_748del (p.Thr247fs)	KCNQ1	Pathogenic/Likely pathogenic	11	2593292	2593301	GGGAGGCACCT	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000011.10:g.(?_2583415)_(2588874_?)del	KCNQ1	Pathogenic	11	2604645	2610104	na	na	criteria provided, single submitter	-
Deletion	NM_000218.3(KCNQ1):c.1524del (p.Glu508fs)	KCNQ1	Likely pathogenic	11	2790082	2790082	GA	G	criteria provided, single submitter	-
single nucleotide variant	NM_000218.3(KCNQ1):c.1126C>T (p.Gln376Ter)	KCNQ1	Pathogenic	11	2606535	2606535	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000218.3(KCNQ1):c.781G>T (p.Glu261Ter)	KCNQ1	Pathogenic	11	2594076	2594076	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000218.3(KCNQ1):c.1685+2T>C	KCNQ1	Pathogenic	11	2797286	2797286	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000218.3(KCNQ1):c.51G>A (p.Trp17Ter)	KCNQ1	Pathogenic	11	2466379	2466379	G	A	criteria provided, single submitter	-
Deletion	NM_000218.3(KCNQ1):c.706del (p.Ile235_Leu236insTer)	KCNQ1	Pathogenic	11	2593264	2593264	TC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000218.3(KCNQ1):c.726C>A (p.Asp242Glu)	KCNQ1	Likely pathogenic	11	2593285	2593285	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000218.3(KCNQ1):c.973G>C (p.Gly325Arg)	KCNQ1	Pathogenic	11	2604716	2604716	G	C	criteria provided, single submitter	-