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.950A>G (p.Asp317Gly)	KCNQ1	Pathogenic/Likely pathogenic	11	2604693	2604693	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA008884
single nucleotide variant	NM_000218.3(KCNQ1):c.958C>T (p.Pro320Ser)	KCNQ1	Pathogenic/Likely pathogenic	11	2604701	2604701	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008910,UniProtKB:P51787#VAR_074983
Deletion	NM_000218.3(KCNQ1):c.826del (p.Ser276fs)	KCNQ1	Likely pathogenic	11	2594121	2594121	CT	C	criteria provided, single submitter	ClinGen:CA008398
single nucleotide variant	NM_000218.3(KCNQ1):c.37A>T (p.Lys13Ter)	KCNQ1	Pathogenic	11	2466365	2466365	A	T	criteria provided, single submitter	ClinGen:CA006918
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.321G>T (p.Gln107His)	KCNQ1	Likely pathogenic	11	2466649	2466649	G	T	criteria provided, single submitter	-
Duplication	NM_000218.3(KCNQ1):c.364dup (p.Cys122fs)	KCNQ1	Pathogenic/Likely pathogenic	11	2466691	2466692	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA277170
single nucleotide variant	NM_000218.3(KCNQ1):c.373T>G (p.Tyr125Asp)	KCNQ1	Likely pathogenic	11	2466701	2466701	T	G	criteria provided, single submitter	ClinGen:CA006898
single nucleotide variant	NM_000218.3(KCNQ1):c.387-5T>A	KCNQ1	Likely pathogenic	11	2549153	2549153	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006957
Deletion	NM_000218.3(KCNQ1):c.403del (p.Val135fs)	KCNQ1	Pathogenic/Likely pathogenic	11	2549173	2549173	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007001