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.425del (p.Leu142fs)	KCNQ1	Pathogenic/Likely pathogenic	11	2549196	2549196	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007054
single nucleotide variant	NM_000218.3(KCNQ1):c.477+1G>A	KCNQ1	Pathogenic	11	2549249	2549249	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007168
single nucleotide variant	NM_000218.3(KCNQ1):c.521G>T (p.Arg174Leu)	KCNQ1	Pathogenic/Likely pathogenic	11	2591901	2591901	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007345
single nucleotide variant	NM_000218.3(KCNQ1):c.550T>G (p.Tyr184Asp)	KCNQ1	Likely pathogenic	11	2591930	2591930	T	G	criteria provided, single submitter	ClinGen:CA007413
Duplication	NM_000218.3(KCNQ1):c.551dup (p.Tyr184Ter)	KCNQ1	Pathogenic	11	2591930	2591931	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA305943
single nucleotide variant	NM_000218.3(KCNQ1):c.557G>T (p.Gly186Val)	KCNQ1	Pathogenic	11	2591937	2591937	G	T	criteria provided, single submitter	ClinGen:CA007449
Deletion	NM_000218.3(KCNQ1):c.569_582del (p.Arg190fs)	KCNQ1	Pathogenic	11	2591948	2591961	GCGGCTGCGCTTTGC	G	criteria provided, single submitter	ClinGen:CA007538
single nucleotide variant	NM_000218.3(KCNQ1):c.589C>T (p.Pro197Ser)	KCNQ1	Likely pathogenic	11	2591969	2591969	C	T	criteria provided, single submitter	ClinGen:CA007665
Deletion	NM_000218.3(KCNQ1):c.603_604+9del	KCNQ1	Pathogenic/Likely pathogenic	11	2591979	2591989	ATCATCGGTGAG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA306117
single nucleotide variant	NM_000218.3(KCNQ1):c.605A>G (p.Asp202Gly)	KCNQ1	Pathogenic	11	2592555	2592555	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA007736