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.5134C>T (p.Gln1712Ter)	DMD	Pathogenic	X	32382719	32382719	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.5287C>T (p.Arg1763Ter)	DMD	Pathogenic	X	32380943	32380943	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA267055
single nucleotide variant	NM_004006.3(DMD):c.5353C>T (p.Gln1785Ter)	DMD	Pathogenic	X	32366618	32366618	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.5530C>T (p.Arg1844Ter)	DMD	Pathogenic	X	32364116	32364116	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA267064
single nucleotide variant	NM_004006.3(DMD):c.5554C>T (p.Gln1852Ter)	DMD	Pathogenic	X	32364092	32364092	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA267067
single nucleotide variant	NM_004006.3(DMD):c.5640T>A (p.Tyr1880Ter)	DMD	Pathogenic	X	32361350	32361350	A	T	criteria provided, single submitter	ClinGen:CA267071
single nucleotide variant	NM_004006.3(DMD):c.5773G>T (p.Glu1925Ter)	DMD	Pathogenic	X	32360366	32360366	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA267077
single nucleotide variant	NM_004006.3(DMD):c.583C>T (p.Arg195Ter)	DMD	Pathogenic	X	32827676	32827676	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA267083
single nucleotide variant	NM_004006.3(DMD):c.5938G>T (p.Glu1980Ter)	DMD	Pathogenic	X	32328378	32328378	C	A	criteria provided, single submitter	ClinGen:CA267087
single nucleotide variant	NM_004006.3(DMD):c.6000T>A (p.Tyr2000Ter)	DMD	Pathogenic	X	32328316	32328316	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA267090

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