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_001743.6(CALM2):c.396T>G (p.Asp132Glu)	CALM2	Pathogenic	2	47388887	47388887	A	C	criteria provided, single submitter	ClinGen:CA186030,UniProtKB:P62158#VAR_073279,OMIM:114182.0005
single nucleotide variant	NM_001743.6(CALM2):c.287A>T (p.Asp96Val)	CALM2	Pathogenic	2	47388996	47388996	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA186019,OMIM:114182.0001
single nucleotide variant	NM_001743.6(CALM2):c.414C>G (p.Asn138Lys)	CALM2	Pathogenic	2	47388869	47388869	G	C	criteria provided, single submitter	ClinGen:CA346719008
single nucleotide variant	NM_001743.6(CALM2):c.434T>G (p.Met145Arg)	CALM2	Likely pathogenic	2	47387931	47387931	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_001743.6(CALM2):c.286G>T (p.Asp96Tyr)	CALM2	Pathogenic	2	47388997	47388997	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_005184.4(CALM3):c.395A>G (p.Asp132Gly)	CALM3	Likely pathogenic	19	47112212	47112212	A	G	criteria provided, single submitter	ClinGen:CA16608277
single nucleotide variant	NM_005184.4(CALM3):c.281A>C (p.Asp94Ala)	CALM3	Pathogenic	19	47111841	47111841	A	C	criteria provided, single submitter	ClinGen:CA16616071
single nucleotide variant	NM_005184.4(CALM3):c.286G>C (p.Asp96His)	CALM3	Pathogenic	19	47112103	47112103	G	C	criteria provided, single submitter	ClinGen:CA16616292
single nucleotide variant	NM_005184.4(CALM3):c.396T>A (p.Asp132Glu)	CALM3	Pathogenic	19	47112213	47112213	T	A	criteria provided, single submitter	ClinGen:CA16620863
single nucleotide variant	NM_005184.4(CALM3):c.422A>G (p.Glu141Gly)	CALM3	Likely pathogenic	19	47112382	47112382	A	G	criteria provided, single submitter	ClinGen:CA406473868