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_005184.4(CALM3):c.281A>C (p.Asp94Ala)	CALM3	Pathogenic	19	47111841	47111841	A	C	criteria provided, single submitter	ClinGen:CA16616071
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_001035.3(RYR2):c.12002A>G (p.Asp4001Gly)	RYR2	Likely pathogenic	1	237947014	237947014	A	G	criteria provided, single submitter	ClinGen:CA16617109
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
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_006888.6(CALM1):c.419A>T (p.Glu140Val)	CALM1	Likely pathogenic	14	90870856	90870856	A	T	criteria provided, single submitter	ClinGen:CA16619892
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.502C>G (p.Gln168Glu)	RYR2	Likely pathogenic	1	237540661	237540661	C	G	criteria provided, single submitter	ClinGen:CA345375521
single nucleotide variant	NM_001035.3(RYR2):c.11914A>G (p.Met3972Val)	RYR2	Likely pathogenic	1	237944898	237944898	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA345410102
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