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.9563+1G>A	DMD	Pathogenic	X	31227614	31227614	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606200,OMIM:300377.0066
single nucleotide variant	NM_001267550.2(TTN):c.47629C>T (p.Gln15877Ter)	TTN	Likely pathogenic	2	179482183	179482183	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606226
single nucleotide variant	NM_004006.3(DMD):c.4483C>T (p.Gln1495Ter)	DMD	Pathogenic	X	32407653	32407653	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606266
Duplication	NM_001267550.2(TTN):c.78197dup (p.Tyr26066Ter)	TTN	Likely pathogenic	2	179432661	179432662	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606327
Deletion	NM_001267550.2(TTN):c.56294del (p.Thr18765fs)	TTN	Likely pathogenic	2	179464334	179464334	TG	T	criteria provided, single submitter	ClinGen:CA10606343
Deletion	NM_001267550.2(TTN):c.90561del (p.Thr30188fs)	TTN	Likely pathogenic	2	179417066	179417066	TA	T	criteria provided, single submitter	ClinGen:CA10606611
single nucleotide variant	NM_004006.3(DMD):c.8669-1G>C	DMD	Pathogenic	X	31496492	31496492	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606618
Duplication	NM_004006.3(DMD):c.10650_10651dup (p.Gln3551fs)	DMD	Pathogenic	X	31165537	31165538	T	TGG	criteria provided, single submitter	ClinGen:CA10606619
single nucleotide variant	NM_004006.3(DMD):c.4312C>T (p.Gln1438Ter)	DMD	Pathogenic	X	32408220	32408220	G	A	criteria provided, single submitter	ClinGen:CA10606712
single nucleotide variant	NM_004006.3(DMD):c.3413G>A (p.Trp1138Ter)	DMD	Pathogenic	X	32481575	32481575	C	T	criteria provided, single submitter	ClinGen:CA10606715

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