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.7385C>T (p.Pro2462Leu)	RYR2	Likely pathogenic	1	237811786	237811786	C	T	criteria provided, single submitter	ClinGen:CA010694
single nucleotide variant	NM_001035.3(RYR2):c.6950C>A (p.Ala2317Glu)	RYR2	Likely pathogenic	1	237802336	237802336	C	A	criteria provided, single submitter	ClinGen:CA010438
single nucleotide variant	NM_001035.3(RYR2):c.6940G>A (p.Glu2314Lys)	RYR2	Likely pathogenic	1	237802326	237802326	G	A	criteria provided, single submitter	ClinGen:CA010419
single nucleotide variant	NM_001035.3(RYR2):c.6883G>A (p.Gly2295Arg)	RYR2	Likely pathogenic	1	237801747	237801747	G	A	criteria provided, single submitter	ClinGen:CA010358
single nucleotide variant	NM_001035.3(RYR2):c.6683G>T (p.Gly2228Val)	RYR2	Likely pathogenic	1	237797005	237797005	G	T	criteria provided, single submitter	ClinGen:CA010248
single nucleotide variant	NM_001035.3(RYR2):c.6598C>T (p.Leu2200Phe)	RYR2	Likely pathogenic	1	237796920	237796920	C	T	criteria provided, single submitter	ClinGen:CA010231
single nucleotide variant	NM_001035.3(RYR2):c.1646C>T (p.Ala549Val)	RYR2	Likely pathogenic	1	237632425	237632425	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.1066T>G (p.Tyr356Asp)	RYR2	Likely pathogenic	1	237604679	237604679	T	G	criteria provided, single submitter	ClinGen:CA006732
single nucleotide variant	NM_001035.3(RYR2):c.527G>T (p.Arg176Leu)	RYR2	Likely pathogenic	1	237540686	237540686	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009824
Deletion	NM_001035.3(RYR2):c.512_514del (p.Glu171del)	RYR2	Likely pathogenic	1	237540669	237540671	CAGA	C	criteria provided, single submitter	ClinGen:CA009784