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.12569T>G (p.Val4190Gly)	RYR2	Likely pathogenic	1	237947581	237947581	T	G	criteria provided, single submitter	ClinGen:CA16617110
Deletion	NM_001035.3(RYR2):c.12550_12552del (p.Glu4184del)	RYR2	Likely pathogenic	1	237947562	237947564	AGAG	A	criteria provided, single submitter	-
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.12539G>T (p.Gly4180Val)	RYR2	Likely pathogenic	1	237947551	237947551	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.12533A>G (p.Asn4178Ser)	RYR2	Pathogenic/Likely pathogenic	1	237947545	237947545	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA007573
single nucleotide variant	NM_001035.3(RYR2):c.12477G>T (p.Gln4159His)	RYR2	Likely pathogenic	1	237947489	237947489	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.12470G>A (p.Arg4157Gln)	RYR2	Pathogenic	1	237947482	237947482	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007532
single nucleotide variant	NM_001035.3(RYR2):c.12372C>A (p.Ser4124Arg)	RYR2	Pathogenic	1	237947384	237947384	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007482
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.12301C>T (p.Leu4101Phe)	RYR2	Likely pathogenic	1	237947313	237947313	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007454