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.422A>G (p.Glu141Gly)	CALM3	Likely pathogenic	19	47112382	47112382	A	G	criteria provided, single submitter	ClinGen:CA406473868
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_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
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_006888.6(CALM1):c.394G>A (p.Asp132Asn)	CALM1	Pathogenic	14	90870831	90870831	G	A	criteria provided, single submitter	-
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
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_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_006888.6(CALM1):c.313G>A (p.Glu105Lys)	CALM1	Likely pathogenic	14	90870750	90870750	G	A	criteria provided, single submitter	ClinGen:CA16606883