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
Duplication	NC_000023.10:g.(?_32563276)_(32563451_?)dup	DMD	Likely pathogenic	X	32563276	32563451	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32545159)_(32849820_?)del	DMD	Pathogenic	X	32563276	32867937	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32595757)_(32849820_?)del	DMD	Pathogenic	X	32613874	32867937	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_32827610)_(33038317_?)dup	DMD	Pathogenic	X	32827610	33038317	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_32841412)_(32841504_?)dup	DMD	Likely pathogenic	X	32841412	32841504	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000117.3(EMD):c.123C>A (p.Tyr41Ter)	EMD	Pathogenic	X	153608090	153608090	C	A	criteria provided, single submitter	ClinGen:CA16616634
single nucleotide variant	NM_004006.3(DMD):c.10797+1G>A	DMD	Pathogenic	X	31165391	31165391	C	T	criteria provided, single submitter	ClinGen:CA16616650
Deletion	NM_004006.3(DMD):c.10725del (p.Met3576fs)	DMD	Pathogenic	X	31165464	31165464	TC	T	criteria provided, single submitter	ClinGen:CA16616651
Insertion	NM_004006.3(DMD):c.10406_10407insAA (p.His3469fs)	DMD	Pathogenic	X	31187706	31187707	A	ATT	criteria provided, single submitter	ClinGen:CA16616652
single nucleotide variant	NM_004006.3(DMD):c.9621T>A (p.Cys3207Ter)	DMD	Pathogenic	X	31224727	31224727	A	T	criteria provided, single submitter	ClinGen:CA16616655

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