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.745_754del (p.Arg249fs)	KCNQ1	Pathogenic	11	2593299	2593308	ACCTGGAGGCT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613509
single nucleotide variant	NM_000218.3(KCNQ1):c.847G>C (p.Ala283Pro)	KCNQ1	Likely pathogenic	11	2594142	2594142	G	C	criteria provided, single submitter	ClinGen:CA16613511
single nucleotide variant	NM_000218.3(KCNQ1):c.1046C>A (p.Ser349Ter)	KCNQ1	Pathogenic	11	2606455	2606455	C	A	criteria provided, single submitter	ClinGen:CA16613520
Deletion	NM_000218.3(KCNQ1):c.200del (p.Pro67fs)	KCNQ1	Pathogenic	11	2466525	2466525	TC	T	criteria provided, single submitter	ClinGen:CA16613554
single nucleotide variant	NM_000218.3(KCNQ1):c.1175G>A (p.Trp392Ter)	KCNQ1	Pathogenic	11	2608846	2608846	G	A	criteria provided, single submitter	ClinGen:CA16613564
Duplication	NM_000218.3(KCNQ1):c.1894dup (p.Arg632fs)	KCNQ1	Likely pathogenic	11	2869095	2869096	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA006566
Duplication	NM_000218.3(KCNQ1):c.139_145dup (p.Ala49fs)	KCNQ1	Pathogenic	11	2466461	2466462	C	CCGGCGGG	criteria provided, single submitter	ClinGen:CA16619304
Duplication	NM_000218.3(KCNQ1):c.382_383dup (p.Val129fs)	KCNQ1	Pathogenic	11	2466708	2466709	T	TCG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619305
Deletion	NM_000218.3(KCNQ1):c.622del (p.Ala208fs)	KCNQ1	Likely pathogenic	11	2592571	2592571	TG	T	criteria provided, single submitter	ClinGen:CA16619309
single nucleotide variant	NM_000218.3(KCNQ1):c.374A>G (p.Tyr125Cys)	KCNQ1	Likely pathogenic	11	2466702	2466702	A	G	criteria provided, single submitter	ClinGen:CA379117805