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.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.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.375C>A (p.Tyr125Ter)	KCNQ1	Pathogenic	11	2466703	2466703	C	A	criteria provided, single submitter	ClinGen:CA379117808
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	NC_000011.10:g.(?_2527908)_(2528038_?)del	KCNQ1	Pathogenic	11	2549138	2549268	na	na	criteria provided, single submitter	-
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
single nucleotide variant	NM_000218.3(KCNQ1):c.421G>A (p.Val141Met)	KCNQ1	Pathogenic	11	2549192	2549192	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007045,OMIM:607542.0045
Deletion	NM_000218.3(KCNQ1):c.425del (p.Leu142fs)	KCNQ1	Pathogenic/Likely pathogenic	11	2549196	2549196	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007054
Deletion	NM_000218.3(KCNQ1):c.443del (p.Tyr148fs)	KCNQ1	Pathogenic	11	2549214	2549214	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575750