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
copy number gain	GRCh37/hg19 1q43(chr1:237413038-237540797)	RYR2	Pathogenic	1	237413038	237540797	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_006073.4(TRDN):c.529A>T (p.Lys177Ter)	TRDN	Pathogenic	6	123837307	123837307	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.6646G>C (p.Asp2216His)	RYR2	Pathogenic	1	237796968	237796968	G	C	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	-
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_001035.3(RYR2):c.1069G>A (p.Gly357Ser)	RYR2	Pathogenic	1	237604682	237604682	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA345376136
single nucleotide variant	NM_001743.6(CALM2):c.414C>G (p.Asn138Lys)	CALM2	Pathogenic	2	47388869	47388869	G	C	criteria provided, single submitter	ClinGen:CA346719008
single nucleotide variant	NM_006073.4(TRDN):c.232+2T>A	TRDN	Pathogenic	6	123892066	123892066	A	T	criteria provided, single submitter	ClinGen:CA365569008
single nucleotide variant	NM_001035.3(RYR2):c.14590G>T (p.Gly4864Cys)	RYR2	Pathogenic	1	237982492	237982492	G	T	criteria provided, single submitter	ClinGen:CA345426888
single nucleotide variant	NM_001035.3(RYR2):c.14251A>G (p.Lys4751Glu)	RYR2	Pathogenic	1	237969536	237969536	A	G	criteria provided, single submitter	ClinGen:CA345423159