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.691C>T (p.Arg231Cys)	KCNQ1	Pathogenic/Likely pathogenic	11	2593250	2593250	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007919,UniProtKB:P51787#VAR_074956
single nucleotide variant	NM_000218.3(KCNQ1):c.692G>A (p.Arg231His)	KCNQ1	Pathogenic	11	2593251	2593251	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007925,UniProtKB:P51787#VAR_074957,OMIM:607542.0043
single nucleotide variant	NM_000218.3(KCNQ1):c.704T>A (p.Ile235Asn)	KCNQ1	Pathogenic	11	2593263	2593263	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007935,UniProtKB:P51787#VAR_068293
single nucleotide variant	NM_000218.3(KCNQ1):c.716T>C (p.Leu239Pro)	KCNQ1	Likely pathogenic	11	2593275	2593275	T	C	criteria provided, single submitter	ClinGen:CA007953,UniProtKB:P51787#VAR_074958
single nucleotide variant	NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn)	KCNQ1	Pathogenic	11	2593283	2593283	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007986,UniProtKB:P51787#VAR_008940
single nucleotide variant	NM_000218.3(KCNQ1):c.727C>T (p.Arg243Cys)	KCNQ1	Pathogenic	11	2593286	2593286	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008011,UniProtKB:P51787#VAR_010933
single nucleotide variant	NM_000218.3(KCNQ1):c.752T>C (p.Leu251Pro)	KCNQ1	Pathogenic	11	2593311	2593311	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA008083
single nucleotide variant	NM_000218.3(KCNQ1):c.760G>T (p.Val254Leu)	KCNQ1	Likely pathogenic	11	2593319	2593319	G	T	criteria provided, single submitter	ClinGen:CA008142,UniProtKB:P51787#VAR_074961
single nucleotide variant	NM_000218.3(KCNQ1):c.773A>G (p.His258Arg)	KCNQ1	Likely pathogenic	11	2593332	2593332	A	G	criteria provided, single submitter	ClinGen:CA008167,UniProtKB:P51787#VAR_074963
single nucleotide variant	NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys)	KCNQ1	Pathogenic	11	2593334	2593334	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008177,UniProtKB:P51787#VAR_068295