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
Indel	NM_001232.4(CASQ2):c.578_580delinsAC (p.Ile193fs)	CASQ2	Likely pathogenic	1	116275548	116275550	TGA	GT	criteria provided, single submitter	ClinGen:CA261480
single nucleotide variant	NM_001232.4(CASQ2):c.94G>A (p.Asp32Asn)	CASQ2	Likely pathogenic	1	116311069	116311069	C	T	criteria provided, single submitter	ClinGen:CA301922
single nucleotide variant	NM_001035.3(RYR2):c.1847C>T (p.Ser616Leu)	RYR2	Likely pathogenic	1	237656273	237656273	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008618
single nucleotide variant	NM_001035.3(RYR2):c.9352G>A (p.Gly3118Arg)	RYR2	Pathogenic	1	237863752	237863752	G	A	criteria provided, single submitter	ClinGen:CA011170
single nucleotide variant	NM_001035.3(RYR2):c.12325A>G (p.Met4109Val)	RYR2	Likely pathogenic	1	237947337	237947337	A	G	criteria provided, single submitter	ClinGen:CA007471
single nucleotide variant	NM_001035.3(RYR2):c.14565T>G (p.Ile4855Met)	RYR2	Likely pathogenic	1	237982467	237982467	T	G	criteria provided, single submitter	ClinGen:CA008301
Duplication	NM_001232.4(CASQ2):c.1017dup (p.Asp340Ter)	CASQ2	Pathogenic	1	116244044	116244045	C	CA	criteria provided, single submitter	-
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_001232.4(CASQ2):c.606+1G>C	CASQ2	Pathogenic/Likely pathogenic	1	116275521	116275521	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA301900
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