筋ジストロフィー - MGenReviews

筋ジストロフィー

小児・神経疾患

疾患の紹介

病的バリアントリスト

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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_170707.4(LMNA):c.1489-2A>G	LMNA	Likely pathogenic	1	156106902	156106902	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584131
single nucleotide variant	NM_170707.4(LMNA):c.1540T>C (p.Trp514Arg)	LMNA	Pathogenic	1	156106955	156106955	T	C	criteria provided, single submitter	ClinGen:CA10584133
copy number loss	GRCh37/hg19 Xp21.1(chrX:31766614-31896429)x0	DMD	Pathogenic	X	31766614	31896429	na	na	criteria provided, single submitter	-
copy number loss	GRCh37/hg19 Xp21.1(chrX:31766614-31855217)x0	DMD	Pathogenic	X	31766614	31855217	na	na	criteria provided, single submitter	-
copy number loss	GRCh37/hg19 Xp21.1(chrX:31836968-31945018)x1	DMD	Pathogenic	X	31836968	31945018	na	na	criteria provided, single submitter	-
copy number loss	GRCh37/hg19 Xp21.1(chrX:31986184-31986956)x1	DMD	Pathogenic	X	31986184	31986956	na	na	criteria provided, single submitter	-
copy number loss	GRCh37/hg19 22q12.3(chr22:34146948-34157735)x1	LARGE1	Pathogenic	22	34146948	34157735	na	na	criteria provided, single submitter	-
Duplication	NM_004006.2(DMD):c.32-?_93+?dup62	DMD	Pathogenic	X	33038256	33038317	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.1566C>A (p.Cys522Ter)	LMNA	Pathogenic	1	156106981	156106981	C	A	criteria provided, single submitter	ClinGen:CA10587415
single nucleotide variant	NM_170707.4(LMNA):c.1157G>C (p.Arg386Thr)	LMNA	Pathogenic	1	156105912	156105912	G	C	criteria provided, single submitter	ClinGen:CA10587419

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