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.1616G>A (p.Arg539Gln)	KCNQ1	Pathogenic/Likely pathogenic	11	2797215	2797215	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006001,UniProtKB:P51787#VAR_075015
single nucleotide variant	NM_000218.3(KCNQ1):c.1669A>G (p.Lys557Glu)	KCNQ1	Pathogenic/Likely pathogenic	11	2797268	2797268	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA006153,UniProtKB:P51787#VAR_074693
single nucleotide variant	NM_000218.3(KCNQ1):c.1831G>T (p.Asp611Tyr)	KCNQ1	Likely pathogenic	11	2869033	2869033	G	T	criteria provided, single submitter	ClinGen:CA006483
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
single nucleotide variant	NM_000218.3(KCNQ1):c.550T>C (p.Tyr184His)	KCNQ1	Likely pathogenic	11	2591930	2591930	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007405,UniProtKB:P51787#VAR_074943
single nucleotide variant	NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu)	KCNQ1	Pathogenic/Likely pathogenic	11	2591949	2591949	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007551,UniProtKB:P51787#VAR_074945
single nucleotide variant	NM_000218.3(KCNQ1):c.595T>G (p.Ser199Ala)	KCNQ1	Pathogenic	11	2591975	2591975	T	G	criteria provided, single submitter	ClinGen:CA007685,UniProtKB:P51787#VAR_074950
single nucleotide variant	NM_000218.3(KCNQ1):c.608T>C (p.Leu203Pro)	KCNQ1	Pathogenic	11	2592558	2592558	T	C	criteria provided, single submitter	ClinGen:CA007745
single nucleotide variant	NM_000218.3(KCNQ1):c.625T>C (p.Ser209Pro)	KCNQ1	Pathogenic	11	2592575	2592575	T	C	criteria provided, single submitter	ClinGen:CA007795,OMIM:607542.0042
single nucleotide variant	NM_000218.3(KCNQ1):c.671C>T (p.Thr224Met)	KCNQ1	Pathogenic/Likely pathogenic	11	2592621	2592621	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007860,UniProtKB:P51787#VAR_074955