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
Deletion	NM_004006.3(DMD):c.10121del (p.Lys3374fs)	DMD	Pathogenic	X	31196888	31196888	CT	C	criteria provided, single submitter	ClinGen:CA658658952
single nucleotide variant	NM_004006.3(DMD):c.9163+2T>G	DMD	Pathogenic	X	31366671	31366671	A	C	criteria provided, single submitter	ClinGen:CA412653548
Deletion	NM_004006.3(DMD):c.8196del (p.Glu2733fs)	DMD	Pathogenic/Likely pathogenic	X	31645811	31645811	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658943
single nucleotide variant	NM_004006.3(DMD):c.7661-2A>G	DMD	Pathogenic	X	31697705	31697705	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA412657033
single nucleotide variant	NM_004006.3(DMD):c.6423C>A (p.Tyr2141Ter)	DMD	Pathogenic	X	32235048	32235048	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412660498
single nucleotide variant	NM_004006.3(DMD):c.5851C>T (p.Gln1951Ter)	DMD	Pathogenic	X	32360288	32360288	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412664946
single nucleotide variant	NM_004006.3(DMD):c.5586+1G>A	DMD	Likely pathogenic	X	32364059	32364059	C	T	criteria provided, single submitter	ClinGen:CA412667208
single nucleotide variant	NM_004006.3(DMD):c.3217G>T (p.Glu1073Ter)	DMD	Pathogenic	X	32482762	32482762	C	A	criteria provided, single submitter	ClinGen:CA412664932
Deletion	NM_004006.3(DMD):c.2644del (p.Asp882fs)	DMD	Pathogenic	X	32503195	32503195	TC	T	criteria provided, single submitter	ClinGen:CA658658954
Insertion	NM_004006.3(DMD):c.2423_2424insA (p.Asn809fs)	DMD	Pathogenic	X	32509592	32509593	C	CT	criteria provided, single submitter	ClinGen:CA658658955

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