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.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
single nucleotide variant	NM_006888.6(CALM1):c.389A>G (p.Asp130Gly)	CALM1	Pathogenic/Likely pathogenic	14	90870826	90870826	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA186013,UniProtKB:P62158#VAR_073278,OMIM:114180.0003
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
single nucleotide variant	NM_006888.6(CALM1):c.268T>C (p.Phe90Leu)	CALM1	Likely pathogenic	14	90870295	90870295	T	C	criteria provided, single submitter	ClinGen:CA186017,UniProtKB:P62158#VAR_073275,OMIM:114180.0005
single nucleotide variant	NM_001743.6(CALM2):c.287A>T (p.Asp96Val)	CALM2	Pathogenic	2	47388996	47388996	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA186019,OMIM:114182.0001
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