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
Deletion	NM_001232.4(CASQ2):c.213del (p.Gln71fs)	CASQ2	Pathogenic/Likely pathogenic	1	116310950	116310950	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA301946
Deletion	NM_001232.4(CASQ2):c.204del (p.Lys68fs)	CASQ2	Pathogenic	1	116310959	116310959	GT	G	criteria provided, single submitter	ClinGen:CA301935
single nucleotide variant	NM_001035.3(RYR2):c.239A>G (p.Glu80Gly)	RYR2	Pathogenic	1	237494248	237494248	A	G	criteria provided, single submitter	ClinGen:CA008831
single nucleotide variant	NM_001035.3(RYR2):c.499A>G (p.Lys167Glu)	RYR2	Likely pathogenic	1	237540658	237540658	A	G	criteria provided, single submitter	ClinGen:CA009746
Deletion	NM_001035.3(RYR2):c.512_514del (p.Glu171del)	RYR2	Likely pathogenic	1	237540669	237540671	CAGA	C	criteria provided, single submitter	ClinGen:CA009784
single nucleotide variant	NM_001035.3(RYR2):c.527G>A (p.Arg176Gln)	RYR2	Pathogenic	1	237540686	237540686	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009819,UniProtKB:Q92736#VAR_044087
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
single nucleotide variant	NM_001035.3(RYR2):c.568A>G (p.Arg190Gly)	RYR2	Pathogenic	1	237540727	237540727	A	G	criteria provided, single submitter	ClinGen:CA009967
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.1259G>A (p.Arg420Gln)	RYR2	Pathogenic	1	237608789	237608789	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007630