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.1097G>A (p.Arg366Gln)	KCNQ1	Pathogenic/Likely pathogenic	11	2606506	2606506	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA005263,UniProtKB:P51787#VAR_009929
single nucleotide variant	NM_000218.3(KCNQ1):c.1097G>C (p.Arg366Pro)	KCNQ1	Likely pathogenic	11	2606506	2606506	G	C	criteria provided, single submitter	ClinGen:CA005270,UniProtKB:P51787#VAR_001543
single nucleotide variant	NM_000218.3(KCNQ1):c.1101G>T (p.Gln367His)	KCNQ1	Likely pathogenic	11	2606510	2606510	G	T	criteria provided, single submitter	ClinGen:CA005281
Deletion	NM_000218.3(KCNQ1):c.1124_1127del (p.Ile375fs)	KCNQ1	Pathogenic	11	2606530	2606533	CTCAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA005342
single nucleotide variant	NM_000218.3(KCNQ1):c.1128+1G>T	KCNQ1	Likely pathogenic	11	2606538	2606538	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005355
single nucleotide variant	NM_000218.3(KCNQ1):c.1140G>T (p.Arg380Ser)	KCNQ1	Pathogenic/Likely pathogenic	11	2608811	2608811	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005394,UniProtKB:P51787#VAR_068312
Duplication	NM_000218.3(KCNQ1):c.1201dup (p.Arg401fs)	KCNQ1	Pathogenic	11	2608866	2608867	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA005505
Deletion	NM_000218.3(KCNQ1):c.1265del (p.Lys422fs)	KCNQ1	Pathogenic	11	2609949	2609949	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA005556
Duplication	NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs)	KCNQ1	Pathogenic/Likely pathogenic	11	2609948	2609949	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA005547
Duplication	NM_000218.3(KCNQ1):c.1291dup (p.Val431fs)	KCNQ1	Pathogenic	11	2609978	2609979	T	TG	criteria provided, single submitter	ClinGen:CA005571