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	NC_000011.10:g.(?_2527908)_(2528038_?)del	KCNQ1	Pathogenic	11	2549138	2549268	na	na	criteria provided, single submitter	-
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
single nucleotide variant	NM_000218.3(KCNQ1):c.375C>A (p.Tyr125Ter)	KCNQ1	Pathogenic	11	2466703	2466703	C	A	criteria provided, single submitter	ClinGen:CA379117808
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
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
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.350C>T (p.Pro117Leu)	KCNQ1	Likely pathogenic	11	2466678	2466678	C	T	criteria provided, single submitter	ClinGen:CA006854,UniProtKB:P51787#VAR_074932,OMIM:607542.0030
single nucleotide variant	NM_000218.3(KCNQ1):c.349C>T (p.Pro117Ser)	KCNQ1	Likely pathogenic	11	2466677	2466677	C	T	criteria provided, single submitter	ClinGen:CA10586353
single nucleotide variant	NM_000218.3(KCNQ1):c.344A>G (p.Glu115Gly)	KCNQ1	Likely pathogenic	11	2466672	2466672	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA006838,UniProtKB:P51787#VAR_068288
single nucleotide variant	NM_000218.3(KCNQ1):c.341T>C (p.Leu114Pro)	KCNQ1	Likely pathogenic	11	2466669	2466669	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA006819