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.2017C>T (p.Gln673Ter)	DMD	Pathogenic	X	32563427	32563427	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA341037,OMIM:300377.0023
single nucleotide variant	NM_004006.3(DMD):c.178C>T (p.Gln60Ter)	DMD	Pathogenic	X	32867853	32867853	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA341040,OMIM:300377.0029
single nucleotide variant	NM_004006.3(DMD):c.724C>T (p.Gln242Ter)	DMD	Pathogenic	X	32717336	32717336	G	A	criteria provided, single submitter	ClinGen:CA341043,OMIM:300377.0036
single nucleotide variant	NM_004006.3(DMD):c.1489C>T (p.Gln497Ter)	DMD	Pathogenic	X	32613987	32613987	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA341052,OMIM:300377.0041
single nucleotide variant	NM_004006.3(DMD):c.1952G>A (p.Trp651Ter)	DMD	Pathogenic	X	32583859	32583859	C	T	criteria provided, single submitter	ClinGen:CA273100,OMIM:300377.0043
single nucleotide variant	NM_004006.3(DMD):c.2308A>T (p.Lys770Ter)	DMD	Pathogenic	X	32519944	32519944	T	A	criteria provided, single submitter	ClinGen:CA341055,OMIM:300377.0044
single nucleotide variant	NM_004006.3(DMD):c.3121C>T (p.Gln1041Ter)	DMD	Pathogenic	X	32486656	32486656	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273094,OMIM:300377.0048
single nucleotide variant	NM_004006.3(DMD):c.3188G>A (p.Trp1063Ter)	DMD	Pathogenic	X	32482791	32482791	C	T	criteria provided, single submitter	ClinGen:CA341061,OMIM:300377.0049
single nucleotide variant	NM_004006.3(DMD):c.4213C>T (p.Gln1405Ter)	DMD	Pathogenic	X	32429889	32429889	G	A	criteria provided, single submitter	ClinGen:CA341064,OMIM:300377.0050
single nucleotide variant	NM_004006.3(DMD):c.4414C>T (p.Gln1472Ter)	DMD	Pathogenic	X	32407722	32407722	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA341067,OMIM:300377.0051

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