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.293A>G (p.Asn98Ser)	CALM2	Pathogenic	2	47388990	47388990	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA186025,UniProtKB:P62158#VAR_069223,OMIM:114182.0003
single nucleotide variant	NM_001743.6(CALM2):c.293A>T (p.Asn98Ile)	CALM2	Pathogenic	2	47388990	47388990	T	A	criteria provided, single submitter	ClinGen:CA186027,UniProtKB:P62158#VAR_073277,OMIM:114182.0004
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_033337.3(CAV3):c.136G>A (p.Ala46Thr)	CAV3	Pathogenic	3	8787233	8787233	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA119428,Leiden Muscular Dystrophy (CAV3):CAV3_00005,UniProtKB:P56539#VAR_011513,OMIM:601253.0005
single nucleotide variant	NM_033337.3(CAV3):c.137C>T (p.Ala46Val)	CAV3	Likely pathogenic	3	8787234	8787234	C	T	criteria provided, single submitter	ClinGen:CA119431,Leiden Muscular Dystrophy (CAV3):CAV3_00006,UniProtKB:P56539#VAR_011514,OMIM:601253.0006
single nucleotide variant	NM_033337.3(CAV3):c.99C>G (p.Asn33Lys)	CAV3	Pathogenic	3	8775661	8775661	C	G	criteria provided, single submitter	ClinGen:CA119446,Leiden Muscular Dystrophy (CAV3):CAV3_00038,UniProtKB:P56539#VAR_021016,OMIM:601253.0014