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_000891.3(KCNJ2):c.557C>A (p.Pro186Gln)	KCNJ2	Likely pathogenic	17	68171737	68171737	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000890.5(KCNJ5):c.451G>A (p.Gly151Arg)	KCNJ5	Pathogenic	11	128781619	128781619	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA163129,UniProtKB:P48544#VAR_065930,OMIM:600734.0004
single nucleotide variant	NM_000890.5(KCNJ5):c.452G>A (p.Gly151Glu)	KCNJ5	Pathogenic	11	128781620	128781620	G	A	criteria provided, single submitter	ClinGen:CA163131,UniProtKB:P48544#VAR_067090,OMIM:600734.0005
single nucleotide variant	NM_000218.3(KCNQ1):c.565G>A (p.Gly189Arg)	KCNQ1	Pathogenic/Likely pathogenic	11	2591945	2591945	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007480,UniProtKB:P51787#VAR_001519,OMIM:607542.0003
single nucleotide variant	NM_000218.3(KCNQ1):c.916G>A (p.Gly306Arg)	KCNQ1	Pathogenic	11	2594211	2594211	G	A	criteria provided, single submitter	ClinGen:CA008634,UniProtKB:P51787#VAR_001528,OMIM:607542.0007
single nucleotide variant	NM_000218.3(KCNQ1):c.935C>T (p.Thr312Ile)	KCNQ1	Pathogenic/Likely pathogenic	11	2604678	2604678	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008759,UniProtKB:P51787#VAR_001530,OMIM:607542.0008
single nucleotide variant	NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln)	KCNQ1	Pathogenic	11	2591949	2591949	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007542,UniProtKB:P51787#VAR_001520,OMIM:607542.0004
single nucleotide variant	NM_000218.3(KCNQ1):c.760G>A (p.Val254Met)	KCNQ1	Pathogenic	11	2593319	2593319	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008122,UniProtKB:P51787#VAR_001522,OMIM:607542.0005,OMIM:607542.0035,ClinVar:444879
single nucleotide variant	NM_000218.3(KCNQ1):c.817C>T (p.Leu273Phe)	KCNQ1	Pathogenic	11	2594112	2594112	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008331,UniProtKB:P51787#VAR_001525,OMIM:607542.0006
single nucleotide variant	NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu)	KCNQ1	Pathogenic	11	2604765	2604765	C	A	criteria provided, multiple submitters, no conflicts	OMIM:607542.0009,ClinGen:CA004880,UniProtKB:P51787#VAR_001538