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
Duplication	NC_000023.10:g.(?_32632410)_(33038327_?)dup	DMD	Pathogenic	X	32632410	33038327	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32849718)_(32849830_?)del	DMD	Pathogenic	X	32867835	32867947	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.4846-1G>T	DMD	Likely pathogenic	X	32383317	32383317	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.1705-2A>G	DMD	Pathogenic/Likely pathogenic	X	32591756	32591756	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.831+1G>C	DMD	Pathogenic	X	32717228	32717228	C	G	criteria provided, single submitter	-
Deletion	NM_001943.5(DSG2):c.523+1_523+2del	DSG2	Likely pathogenic	18	29101207	29101208	CGT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000023.11:g.(?_31609621)_(31774202_?)del	DMD	Pathogenic	X	31627738	31792319	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31729621)_(31729758_?)del	DMD	Pathogenic	X	31747738	31747875	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31729621)_(31836829_?)del	DMD	Pathogenic	X	31747738	31854946	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31819965)_(31820093_?)del	DMD	Pathogenic	X	31838082	31838210	na	na	criteria provided, single submitter	-

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