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
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.94G>A (p.Asp32Asn)	CASQ2	Likely pathogenic	1	116311069	116311069	C	T	criteria provided, single submitter	ClinGen:CA301922
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.97C>T (p.Arg33Ter)	CASQ2	Pathogenic/Likely pathogenic	1	116311066	116311066	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA301925
Deletion	NM_001232.4(CASQ2):c.62del (p.Glu21fs)	CASQ2	Pathogenic	1	116311101	116311101	CT	C	criteria provided, single submitter	ClinGen:CA343942
Deletion	NM_001232.4(CASQ2):c.339_354del (p.Ser113fs)	CASQ2	Pathogenic	1	116283415	116283430	CCTTAAGAATATACAGG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA258047,OMIM:114251.0002
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_005184.4(CALM3):c.396T>A (p.Asp132Glu)	CALM3	Pathogenic	19	47112213	47112213	T	A	criteria provided, single submitter	ClinGen:CA16620863
single nucleotide variant	NM_005184.4(CALM3):c.286G>C (p.Asp96His)	CALM3	Pathogenic	19	47112103	47112103	G	C	criteria provided, single submitter	ClinGen:CA16616292