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_004006.3(DMD):c.7189C>T (p.Gln2397Ter)	DMD	Pathogenic	X	31854846	31854846	G	A	criteria provided, single submitter	ClinGen:CA267127
single nucleotide variant	NM_004006.3(DMD):c.7309+1G>A	DMD	Pathogenic	X	31838091	31838091	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA267133
single nucleotide variant	NM_004006.3(DMD):c.7657C>T (p.Arg2553Ter)	DMD	Pathogenic	X	31747751	31747751	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA267135
single nucleotide variant	NM_004006.3(DMD):c.7672C>T (p.Gln2558Ter)	DMD	Pathogenic	X	31697692	31697692	G	A	criteria provided, single submitter	ClinGen:CA222496
single nucleotide variant	NM_004006.3(DMD):c.7682G>A (p.Trp2561Ter)	DMD	Pathogenic	X	31697682	31697682	C	T	criteria provided, single submitter	ClinGen:CA267138
single nucleotide variant	NM_004006.3(DMD):c.7683G>A (p.Trp2561Ter)	DMD	Pathogenic	X	31697681	31697681	C	T	criteria provided, single submitter	ClinGen:CA267141
single nucleotide variant	NM_004006.3(DMD):c.7771G>T (p.Glu2591Ter)	DMD	Pathogenic	X	31697593	31697593	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA267143
single nucleotide variant	NM_004006.3(DMD):c.7894C>T (p.Gln2632Ter)	DMD	Pathogenic	X	31676240	31676240	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA267150
Deletion	NM_004006.3(DMD):c.7922del (p.Asn2641fs)	DMD	Pathogenic	X	31676212	31676212	AT	A	criteria provided, single submitter	ClinGen:CA267153
Deletion	NM_004006.3(DMD):c.8064_8065del (p.His2688fs)	DMD	Pathogenic	X	31645942	31645943	CTA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA267154

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