カテコラミン誘発性多形性心室頻拍

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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_001232.4(CASQ2):c.923C>T (p.Pro308Leu)	CASQ2	Pathogenic/Likely pathogenic	1	116247829	116247829	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA301936
single nucleotide variant	NM_006888.6(CALM1):c.389A>G (p.Asp130Gly)	CALM1	Pathogenic/Likely pathogenic	14	90870826	90870826	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA186013,UniProtKB:P62158#VAR_073278,OMIM:114180.0003
single nucleotide variant	NM_001035.3(RYR2):c.506G>A (p.Arg169Gln)	RYR2	Pathogenic/Likely pathogenic	1	237540665	237540665	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009771
single nucleotide variant	NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter)	CASQ2	Pathogenic/Likely pathogenic	1	116311066	116311066	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA301925
single nucleotide variant	NM_006888.6(CALM1):c.293A>G (p.Asn98Ser)	CALM1	Pathogenic/Likely pathogenic	14	90870730	90870730	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA343812,UniProtKB:P62158#VAR_069223,OMIM:114180.0002
single nucleotide variant	NM_006888.6(CALM1):c.394G>A (p.Asp132Asn)	CALM1	Pathogenic	14	90870831	90870831	G	A	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_001035.3(RYR2):c.11837G>A (p.Gly3946Asp)	RYR2	Pathogenic	1	237942027	237942027	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001232.4(CASQ2):c.475G>T (p.Glu159Ter)	CASQ2	Pathogenic	1	116280902	116280902	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001232.4(CASQ2):c.856G>T (p.Glu286Ter)	CASQ2	Pathogenic	1	116247896	116247896	C	A	criteria provided, single submitter	-