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.532G>A (p.Ala178Thr)	KCNQ1	Pathogenic/Likely pathogenic	11	2591912	2591912	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007353,UniProtKB:P51787#VAR_009920
single nucleotide variant	NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser)	KCNQ1	Pathogenic	11	2591915	2591915	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007379,UniProtKB:P51787#VAR_009921
single nucleotide variant	NM_000218.3(KCNQ1):c.551A>C (p.Tyr184Ser)	KCNQ1	Pathogenic/Likely pathogenic	11	2591931	2591931	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007421,UniProtKB:P51787#VAR_008125
Duplication	NM_000218.3(KCNQ1):c.567dup (p.Arg190fs)	KCNQ1	Pathogenic	11	2591942	2591943	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA007508,OMIM:607542.0014
single nucleotide variant	NM_000218.3(KCNQ1):c.568C>T (p.Arg190Trp)	KCNQ1	Pathogenic/Likely pathogenic	11	2591948	2591948	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007529,UniProtKB:P51787#VAR_074946
Deletion	NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs)	KCNQ1	Pathogenic	11	2591950	2591954	GGCTGC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA007559
Deletion	NM_000218.3(KCNQ1):c.585del (p.Lys196fs)	KCNQ1	Pathogenic	11	2591964	2591964	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007649
single nucleotide variant	NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn)	KCNQ1	Pathogenic/Likely pathogenic	11	2591984	2591984	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007717
single nucleotide variant	NM_000218.3(KCNQ1):c.643G>A (p.Val215Met)	KCNQ1	Pathogenic/Likely pathogenic	11	2592593	2592593	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007820,UniProtKB:P51787#VAR_074954
single nucleotide variant	NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)	KCNQ1	Pathogenic/Likely pathogenic	11	2592624	2592624	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007870,UniProtKB:P51787#VAR_009923