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_001035.3(RYR2):c.14224C>T (p.His4742Tyr)	RYR2	Likely pathogenic	1	237969509	237969509	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.12589A>C (p.Ile4197Leu)	RYR2	Likely pathogenic	1	237947601	237947601	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.12578G>A (p.Cys4193Tyr)	RYR2	Likely pathogenic	1	237947590	237947590	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.11865G>C (p.Gln3955His)	RYR2	Likely pathogenic	1	237942055	237942055	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.11837G>A (p.Gly3946Asp)	RYR2	Pathogenic	1	237942027	237942027	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.11590A>G (p.Asn3864Asp)	RYR2	Likely pathogenic	1	237935344	237935344	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.7256T>G (p.Ile2419Ser)	RYR2	Likely pathogenic	1	237806661	237806661	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.854G>T (p.Ser285Ile)	RYR2	Likely pathogenic	1	237586397	237586397	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.11788G>C (p.Gly3930Arg)	RYR2	Likely pathogenic	1	237941978	237941978	G	C	criteria provided, single submitter	-
copy number gain	GRCh37/hg19 1q43(chr1:237413038-237540797)	RYR2	Pathogenic	1	237413038	237540797	na	na	criteria provided, single submitter	-