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_001035.3(RYR2):c.567A>T (p.Glu189Asp)	RYR2	Likely pathogenic	1	237540726	237540726	A	T	criteria provided, single submitter	ClinGen:CA345375725
single nucleotide variant	NM_001035.3(RYR2):c.7009G>C (p.Gly2337Arg)	RYR2	Likely pathogenic	1	237802395	237802395	G	C	criteria provided, single submitter	ClinGen:CA345395895
single nucleotide variant	NM_001035.3(RYR2):c.14251A>G (p.Lys4751Glu)	RYR2	Pathogenic	1	237969536	237969536	A	G	criteria provided, single submitter	ClinGen:CA345423159
single nucleotide variant	NM_001035.3(RYR2):c.14590G>T (p.Gly4864Cys)	RYR2	Pathogenic	1	237982492	237982492	G	T	criteria provided, single submitter	ClinGen:CA345426888
single nucleotide variant	NM_006073.4(TRDN):c.232+2T>A	TRDN	Pathogenic	6	123892066	123892066	A	T	criteria provided, single submitter	ClinGen:CA365569008
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
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_001232.4(CASQ2):c.115G>T (p.Glu39Ter)	CASQ2	Pathogenic/Likely pathogenic	1	116311048	116311048	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA341767232
single nucleotide variant	NM_001232.4(CASQ2):c.939+1G>T	CASQ2	Pathogenic/Likely pathogenic	1	116247812	116247812	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA29614531
single nucleotide variant	NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser)	RYR2	Pathogenic	1	237604682	237604682	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA345376136