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.7024G>A (p.Gly2342Arg)	RYR2	Likely pathogenic	1	237802410	237802410	G	A	criteria provided, single submitter	ClinGen:CA345395925
single nucleotide variant	NM_001035.3(RYR2):c.14585T>C (p.Ile4862Thr)	RYR2	Likely pathogenic	1	237982487	237982487	T	C	criteria provided, single submitter	ClinGen:CA345426834
single nucleotide variant	NM_001035.3(RYR2):c.6412G>A (p.Glu2138Lys)	RYR2	Likely pathogenic	1	237791352	237791352	G	A	criteria provided, single submitter	ClinGen:CA345411490
Duplication	NM_006073.4(TRDN):c.573dup (p.Lys192fs)	TRDN	Pathogenic	6	123833484	123833485	T	TC	criteria provided, single submitter	ClinGen:CA658796816
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
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.344A>G (p.Tyr115Cys)	RYR2	Likely pathogenic	1	237532868	237532868	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001035.3(RYR2):c.11863C>G (p.Gln3955Glu)	RYR2	Likely pathogenic	1	237942053	237942053	C	G	criteria provided, single submitter	-
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.14586A>G (p.Ile4862Met)	RYR2	Pathogenic	1	237982488	237982488	A	G	criteria provided, single submitter	-