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	NC_000023.11:g.(?_32310062)_(32651077_?)del	DMD	Pathogenic	X	32328179	32669194	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32310072)_(32454842_?)del	DMD	Pathogenic	X	32328189	32472959	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32438231)_(32849830_?)del	DMD	Pathogenic	X	32456348	32867947	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_32472769)_(32536267_?)dup	DMD	Likely pathogenic	X	32472769	32536267	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32517988)_(32518151_?)del	DMD	Pathogenic	X	32536105	32536268	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32595737)_(32595896_?)del	DMD	Pathogenic	X	32613854	32614013	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.9563+2T>A	DMD	Pathogenic	X	31227613	31227613	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_020297.4(ABCC9):c.1703C>T (p.Pro568Leu)	ABCC9	Likely pathogenic	12	22047065	22047065	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.56648-1G>A	TTN	Likely pathogenic	2	179463790	179463790	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.56347+1G>A	TTN	Likely pathogenic	2	179464280	179464280	C	T	criteria provided, multiple submitters, no conflicts	-

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