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.5867G>A (p.Trp1956Ter)	DMD	Pathogenic	X	32360272	32360272	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.264+1G>A	DMD	Pathogenic	X	32862899	32862899	C	T	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.5972del (p.Leu1991fs)	DMD	Pathogenic	X	32328344	32328344	CA	C	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.8061del (p.His2688fs)	DMD	Pathogenic	X	31645946	31645946	GA	G	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.73332C>A (p.Cys24444Ter)	TTN	Likely pathogenic	2	179437527	179437527	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.5563C>T (p.Gln1855Ter)	DMD	Pathogenic	X	32364083	32364083	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.82732A>T (p.Lys27578Ter)	TTN	Likely pathogenic	2	179428127	179428127	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.99401G>A (p.Trp33134Ter)	TTN	Likely pathogenic	2	179402533	179402533	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.8390+1G>C	DMD	Pathogenic	X	31525397	31525397	C	G	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.2914del (p.Tyr972fs)	DMD	Pathogenic	X	32490316	32490316	TA	T	criteria provided, multiple submitters, no conflicts	-

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