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.506C>G (p.Thr169Arg)	KCNQ1	Likely pathogenic	11	2591886	2591886	C	G	criteria provided, single submitter	ClinGen:CA007290
Deletion	NM_000218.3(KCNQ1):c.510del (p.Glu170fs)	KCNQ1	Pathogenic	11	2591890	2591890	AG	A	criteria provided, single submitter	ClinGen:CA658797566
single nucleotide variant	NM_000218.3(KCNQ1):c.513C>G (p.Tyr171Ter)	KCNQ1	Pathogenic	11	2591893	2591893	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA007295
single nucleotide variant	NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter)	KCNQ1	Pathogenic/Likely pathogenic	11	2591893	2591893	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588516
Duplication	NM_000218.3(KCNQ1):c.524_534dup (p.Gly179fs)	KCNQ1	Pathogenic/Likely pathogenic	11	2591894	2591895	G	GTGGTCCGCCTC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586242
Deletion	NM_000218.3(KCNQ1):c.524_534del (p.Leu175fs)	KCNQ1	Pathogenic/Likely pathogenic	11	2591895	2591905	GTGGTCCGCCTC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA5822077
single nucleotide variant	NM_000218.3(KCNQ1):c.518T>A (p.Val173Asp)	KCNQ1	Pathogenic	11	2591898	2591898	T	A	criteria provided, single submitter	ClinGen:CA007313,UniProtKB:P51787#VAR_074941
single nucleotide variant	NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys)	KCNQ1	Pathogenic/Likely pathogenic	11	2591900	2591900	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007321,UniProtKB:P51787#VAR_001517
single nucleotide variant	NM_000218.3(KCNQ1):c.521G>A (p.Arg174His)	KCNQ1	Pathogenic/Likely pathogenic	11	2591901	2591901	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007329,UniProtKB:P51787#VAR_008939
single nucleotide variant	NM_000218.3(KCNQ1):c.521G>C (p.Arg174Pro)	KCNQ1	Likely pathogenic	11	2591901	2591901	G	C	criteria provided, single submitter	ClinGen:CA007337,UniProtKB:P51787#VAR_074942