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.12544G>C (p.Glu4182Gln)	RYR2	Likely pathogenic	1	237947556	237947556	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA007580
single nucleotide variant	NM_001035.3(RYR2):c.506G>A (p.Arg169Gln)	RYR2	Pathogenic/Likely pathogenic	1	237540665	237540665	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009771
Indel	NM_001232.4(CASQ2):c.578_580delinsAC (p.Ile193fs)	CASQ2	Likely pathogenic	1	116275548	116275550	TGA	GT	criteria provided, single submitter	ClinGen:CA261480
Deletion	NM_006073.4(TRDN):c.53_56del (p.Asp18fs)	TRDN	Pathogenic	6	123892244	123892247	GCTGT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA3984487,OMIM:603283.0001
single nucleotide variant	NM_006073.4(TRDN):c.613C>T (p.Gln205Ter)	TRDN	Pathogenic	6	123825044	123825044	G	A	criteria provided, multiple submitters, no conflicts	OMIM:603283.0003,ClinGen:CA144820
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_001743.6(CALM2):c.293A>G (p.Asn98Ser)	CALM2	Pathogenic	2	47388990	47388990	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA186025,UniProtKB:P62158#VAR_069223,OMIM:114182.0003
single nucleotide variant	NM_001743.6(CALM2):c.293A>T (p.Asn98Ile)	CALM2	Pathogenic	2	47388990	47388990	T	A	criteria provided, single submitter	ClinGen:CA186027,UniProtKB:P62158#VAR_073277,OMIM:114182.0004
single nucleotide variant	NM_001743.6(CALM2):c.396T>G (p.Asp132Glu)	CALM2	Pathogenic	2	47388887	47388887	A	C	criteria provided, single submitter	ClinGen:CA186030,UniProtKB:P62158#VAR_073279,OMIM:114182.0005
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