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_001927.4(DES):c.1412A>C (p.Ter471Ser)	DES	Likely pathogenic	2	220290711	220290711	A	C	criteria provided, single submitter	ClinGen:CA308298
single nucleotide variant	NM_001134363.3(RBM20):c.1183C>T (p.Gln395Ter)	RBM20	Pathogenic	10	112541550	112541550	C	T	criteria provided, single submitter	ClinGen:CA335535
single nucleotide variant	NM_001134363.3(RBM20):c.1607T>C (p.Ile536Thr)	RBM20	Likely pathogenic	10	112557345	112557345	T	C	criteria provided, single submitter	ClinGen:CA335539
Duplication	NM_001134363.3(RBM20):c.2501dup (p.Asp834fs)	RBM20	Likely pathogenic	10	112572655	112572656	G	GA	criteria provided, single submitter	ClinGen:CA335580
Deletion	NM_004281.4(BAG3):c.1267_1276del (p.Leu423fs)	BAG3	Pathogenic	10	121436332	121436341	TGCTGAAAGTG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA204624
single nucleotide variant	NM_004006.3(DMD):c.2623-1G>T	DMD	Pathogenic/Likely pathogenic	X	32503217	32503217	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA308422
single nucleotide variant	NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter)	TTN	Likely pathogenic	2	179400115	179400115	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA309376
Indel	NM_001267550.2(TTN):c.101098delinsCT (p.Asp33700fs)	TTN	Pathogenic/Likely pathogenic	2	179400244	179400244	C	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA309461
Duplication	NM_001267550.2(TTN):c.99184_99185dup (p.Leu33063fs)	TTN	Pathogenic/Likely pathogenic	2	179403370	179403371	A	ACC	criteria provided, multiple submitters, no conflicts	ClinGen:CA309547
single nucleotide variant	NM_001267550.2(TTN):c.98989+1G>A	TTN	Pathogenic/Likely pathogenic	2	179403672	179403672	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA309375

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