カテコラミン誘発性多形性心室頻拍

最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.6646G>C (p.Asp2216His)	RYR2	Pathogenic	1	237796968	237796968	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.11624T>C (p.Val3875Ala)	RYR2	Likely pathogenic	1	237935378	237935378	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.12477G>T (p.Gln4159His)	RYR2	Likely pathogenic	1	237947489	237947489	G	T	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_001743.6(CALM2):c.434T>G (p.Met145Arg)	CALM2	Likely pathogenic	2	47387931	47387931	A	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	-
single nucleotide variant	NM_001035.3(RYR2):c.11788G>C (p.Gly3930Arg)	RYR2	Likely pathogenic	1	237941978	237941978	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_001232.4(CASQ2):c.856G>T (p.Glu286Ter)	CASQ2	Pathogenic	1	116247896	116247896	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001232.4(CASQ2):c.475G>T (p.Glu159Ter)	CASQ2	Pathogenic	1	116280902	116280902	C	A	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	-