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.332A>G (p.Tyr111Cys)	KCNQ1	Pathogenic	11	2466660	2466660	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA006810,UniProtKB:P51787#VAR_009918
single nucleotide variant	NM_000218.3(KCNQ1):c.321G>T (p.Gln107His)	KCNQ1	Likely pathogenic	11	2466649	2466649	G	T	criteria provided, single submitter	-
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
Deletion	NM_000218.3(KCNQ1):c.200del (p.Pro67fs)	KCNQ1	Pathogenic	11	2466525	2466525	TC	T	criteria provided, single submitter	ClinGen:CA16613554
Deletion	NM_000218.3(KCNQ1):c.165_187del (p.Gly57fs)	KCNQ1	Pathogenic	11	2466490	2466512	TCGCGCCCGGCGCCCCAGGTCCCG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006108
single nucleotide variant	NM_000218.3(KCNQ1):c.153C>G (p.Tyr51Ter)	KCNQ1	Pathogenic	11	2466481	2466481	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA005867
Duplication	NM_000218.3(KCNQ1):c.139_145dup (p.Ala49fs)	KCNQ1	Pathogenic	11	2466461	2466462	C	CCGGCGGG	criteria provided, single submitter	ClinGen:CA16619304
single nucleotide variant	NM_000218.3(KCNQ1):c.124G>T (p.Glu42Ter)	KCNQ1	Likely pathogenic	11	2466452	2466452	G	T	criteria provided, single submitter	ClinGen:CA379116274
single nucleotide variant	NM_000218.3(KCNQ1):c.94A>T (p.Lys32Ter)	KCNQ1	Pathogenic	11	2466422	2466422	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA379116142
single nucleotide variant	NM_000218.3(KCNQ1):c.51G>A (p.Trp17Ter)	KCNQ1	Pathogenic	11	2466379	2466379	G	A	criteria provided, single submitter	-