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
Deletion	NM_006073.4(TRDN):c.438_442del (p.Asp146_Lys147insTer)	TRDN	Pathogenic	6	123851693	123851697	GTCTTA	G	criteria provided, single submitter	ClinGen:CA3984381
single nucleotide variant	NM_001035.3(RYR2):c.14864G>A (p.Gly4955Glu)	RYR2	Pathogenic	1	237995907	237995907	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA345410956
single nucleotide variant	NM_006888.6(CALM1):c.424T>C (p.Phe142Leu)	CALM1	Pathogenic	14	90871035	90871035	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA390690445
single nucleotide variant	NM_005184.4(CALM3):c.396T>A (p.Asp132Glu)	CALM3	Pathogenic	19	47112213	47112213	T	A	criteria provided, single submitter	ClinGen:CA16620863
single nucleotide variant	NM_001035.3(RYR2):c.14600T>C (p.Ile4867Thr)	RYR2	Pathogenic	1	237991690	237991690	T	C	criteria provided, single submitter	ClinGen:CA16617111
single nucleotide variant	NM_005184.4(CALM3):c.286G>C (p.Asp96His)	CALM3	Pathogenic	19	47112103	47112103	G	C	criteria provided, single submitter	ClinGen:CA16616292
single nucleotide variant	NM_005184.4(CALM3):c.281A>C (p.Asp94Ala)	CALM3	Pathogenic	19	47111841	47111841	A	C	criteria provided, single submitter	ClinGen:CA16616071
Deletion	NM_006073.4(TRDN):c.618del (p.Ala208fs)	TRDN	Pathogenic	6	123825039	123825039	TC	T	criteria provided, single submitter	ClinGen:CA16611945
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.14704C>T (p.Pro4902Ser)	RYR2	Pathogenic	1	237993878	237993878	C	T	criteria provided, single submitter	ClinGen:CA008352