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_006888.6(CALM1):c.398G>A (p.Gly133Glu)	CALM1	Likely pathogenic	14	90870835	90870835	G	A	criteria provided, single submitter	ClinGen:CA390690363
single nucleotide variant	NM_006888.6(CALM1):c.419A>T (p.Glu140Val)	CALM1	Likely pathogenic	14	90870856	90870856	A	T	criteria provided, single submitter	ClinGen:CA16619892
single nucleotide variant	NM_006888.6(CALM1):c.424T>C (p.Phe142Leu)	CALM1	Pathogenic	14	90871035	90871035	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA390690445
single nucleotide variant	NM_006888.6(CALM1):c.426C>G (p.Phe142Leu)	CALM1	Pathogenic	14	90871037	90871037	C	G	criteria provided, single submitter	ClinGen:CA186015,UniProtKB:P62158#VAR_073282,OMIM:114180.0004
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.940-1G>T	CASQ2	Likely pathogenic	1	116245617	116245617	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576356
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_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.856G>T (p.Glu286Ter)	CASQ2	Pathogenic	1	116247896	116247896	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter)	CASQ2	Pathogenic/Likely pathogenic	1	116268129	116268129	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA1023758