特発性拡張型心筋症 - MGenReviews

特発性拡張型心筋症

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.6662del (p.Asn2221fs)	DMD	Pathogenic	X	31950297	31950297	AT	A	criteria provided, single submitter	ClinGen:CA16616495
single nucleotide variant	NM_004006.3(DMD):c.4071+1G>A	DMD	Pathogenic	X	32456357	32456357	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616496
single nucleotide variant	NM_004006.3(DMD):c.6614+2T>C	DMD	Pathogenic	X	31986454	31986454	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616497
single nucleotide variant	NM_004006.3(DMD):c.2665C>T (p.Arg889Ter)	DMD	Pathogenic	X	32503174	32503174	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616505
single nucleotide variant	NM_004006.3(DMD):c.2202G>A (p.Trp734Ter)	DMD	Pathogenic	X	32536215	32536215	C	T	criteria provided, single submitter	ClinGen:CA16616508
single nucleotide variant	NM_004006.3(DMD):c.2077C>T (p.Gln693Ter)	DMD	Pathogenic	X	32563367	32563367	G	A	criteria provided, single submitter	ClinGen:CA16616517
Duplication	NM_004006.3(DMD):c.2076dup (p.Gln693fs)	DMD	Pathogenic	X	32563367	32563368	G	GT	criteria provided, single submitter	ClinGen:CA16616524
single nucleotide variant	NM_004006.3(DMD):c.1653G>A (p.Trp551Ter)	DMD	Pathogenic/Likely pathogenic	X	32591913	32591913	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616525
single nucleotide variant	NM_004006.3(DMD):c.1061G>A (p.Trp354Ter)	DMD	Pathogenic	X	32663169	32663169	C	T	criteria provided, single submitter	ClinGen:CA16616527
single nucleotide variant	NM_004006.3(DMD):c.832-15A>G	DMD	Likely pathogenic	X	32716130	32716130	T	C	criteria provided, single submitter	ClinGen:CA16616530

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