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_006888.6(CALM1):c.88A>C (p.Thr30Pro)	CALM1	Likely pathogenic	14	90867656	90867656	A	C	criteria provided, single submitter	ClinGen:CA16606882
single nucleotide variant	NM_006888.6(CALM1):c.313G>A (p.Glu105Lys)	CALM1	Likely pathogenic	14	90870750	90870750	G	A	criteria provided, single submitter	ClinGen:CA16606883
single nucleotide variant	NM_005184.4(CALM3):c.395A>G (p.Asp132Gly)	CALM3	Likely pathogenic	19	47112212	47112212	A	G	criteria provided, single submitter	ClinGen:CA16608277
single nucleotide variant	NM_001232.4(CASQ2):c.235-2A>G	CASQ2	Likely pathogenic	1	116287535	116287535	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609862
single nucleotide variant	NM_001035.3(RYR2):c.230C>T (p.Ala77Val)	RYR2	Pathogenic/Likely pathogenic	1	237494239	237494239	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610004
single nucleotide variant	NM_001035.3(RYR2):c.6886G>A (p.Glu2296Lys)	RYR2	Likely pathogenic	1	237801750	237801750	G	A	criteria provided, single submitter	ClinGen:CA16610013
single nucleotide variant	NM_001035.3(RYR2):c.11200C>T (p.Arg3734Cys)	RYR2	Likely pathogenic	1	237919642	237919642	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610052
single nucleotide variant	NM_001035.3(RYR2):c.11623G>A (p.Val3875Ile)	RYR2	Pathogenic	1	237935377	237935377	G	A	criteria provided, single submitter	ClinGen:CA16610054
single nucleotide variant	NM_001035.3(RYR2):c.13904T>A (p.Ile4635Asn)	RYR2	Likely pathogenic	1	237957288	237957288	T	A	criteria provided, single submitter	ClinGen:CA16610067
Deletion	NM_006073.4(TRDN):c.618del (p.Ala208fs)	TRDN	Pathogenic	6	123825039	123825039	TC	T	criteria provided, single submitter	ClinGen:CA16611945