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.6737C>T (p.Ser2246Leu)	RYR2	Pathogenic	1	237798237	237798237	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA010282,UniProtKB:Q92736#VAR_011396,OMIM:180902.0001
single nucleotide variant	NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys)	RYR2	Pathogenic	1	237954741	237954741	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007921,UniProtKB:Q92736#VAR_011402,OMIM:180902.0004
single nucleotide variant	NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro)	RYR2	Pathogenic	1	237617696	237617696	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007785,UniProtKB:Q92736#VAR_011395,OMIM:180902.0006
single nucleotide variant	NM_001035.3(RYR2):c.12602A>G (p.Gln4201Arg)	RYR2	Pathogenic	1	237947614	237947614	A	G	criteria provided, single submitter	ClinGen:CA007638,UniProtKB:Q92736#VAR_011401,OMIM:180902.0009
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_001035.3(RYR2):c.14314G>A (p.Gly4772Ser)	RYR2	Likely pathogenic	1	237972216	237972216	G	A	criteria provided, single submitter	ClinGen:CA008227
single nucleotide variant	NM_006888.6(CALM1):c.161A>T (p.Asn54Ile)	CALM1	Likely pathogenic	14	90867729	90867729	A	T	criteria provided, single submitter	ClinGen:CA343809,UniProtKB:P62158#VAR_069222,OMIM:114180.0001
single nucleotide variant	NM_006888.6(CALM1):c.293A>G (p.Asn98Ser)	CALM1	Pathogenic/Likely pathogenic	14	90870730	90870730	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA343812,UniProtKB:P62158#VAR_069223,OMIM:114180.0002
Deletion	NM_001232.4(CASQ2):c.62del (p.Glu21fs)	CASQ2	Pathogenic	1	116311101	116311101	CT	C	criteria provided, single submitter	ClinGen:CA343942
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