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

Excelでダウンロード

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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
Deletion	Single allele	DMD	Pathogenic	X	31697480	31766673	na	na	criteria provided, single submitter	-
Duplication	Single allele	DMD	Pathogenic	X	31947471	31972601	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001077365.2(POMT1):c.443C>A (p.Thr148Asn)	POMT1	Pathogenic	9	134384313	134384313	C	A	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_156137634)_(156139126_?)del	LMNA	Likely pathogenic	1	156107425	156108917	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.1119C>G (p.Ile373Met)	LMNA	Pathogenic	1	156105874	156105874	C	G	criteria provided, single submitter	-
Deletion	NM_170707.4(LMNA):c.1516del (p.His506fs)	LMNA	Pathogenic	1	156106929	156106929	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.4G>T (p.Glu2Ter)	LMNA	Pathogenic	1	156084713	156084713	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_170707.4(LMNA):c.73del (p.Arg25fs)	LMNA	Pathogenic	1	156084780	156084780	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.1184C>A (p.Ser395Ter)	LMNA	Pathogenic	1	156106031	156106031	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_170707.4(LMNA):c.91G>A (p.Glu31Lys)	LMNA	Pathogenic	1	156084800	156084800	G	A	criteria provided, single submitter	-

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