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
single nucleotide variant	NM_004006.3(DMD):c.5140G>T (p.Glu1714Ter)	DMD	Pathogenic	X	32382713	32382713	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604634
Duplication	NM_004006.3(DMD):c.1047dup (p.Glu350fs)	DMD	Pathogenic	X	32663182	32663183	C	CT	criteria provided, single submitter	ClinGen:CA10604701
Indel	Single allele	TTN	Likely pathogenic	2	179433196	179433213	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.10062T>A (p.Tyr3354Ter)	DMD	Pathogenic	X	31198511	31198511	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604800
single nucleotide variant	NM_004006.3(DMD):c.649+1G>T	DMD	Pathogenic	X	32827609	32827609	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604926
single nucleotide variant	NM_004006.3(DMD):c.457C>T (p.Gln153Ter)	DMD	Pathogenic	X	32834658	32834658	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604955
single nucleotide variant	NM_001927.4(DES):c.373A>T (p.Lys125Ter)	DES	Pathogenic	2	220283557	220283557	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604977
Duplication	NM_000337.6(SGCD):c.65dup (p.Tyr23fs)	SGCD	Pathogenic	5	155771559	155771560	G	GT	criteria provided, single submitter	ClinGen:CA10605018
single nucleotide variant	NM_004006.3(DMD):c.5739+1G>T	DMD	Pathogenic/Likely pathogenic	X	32361250	32361250	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605032
Deletion	NM_004006.3(DMD):c.3238del (p.Asp1080fs)	DMD	Pathogenic	X	32482741	32482741	TC	T	criteria provided, single submitter	ClinGen:CA10605046

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