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	NM_004006.3(DMD):c.8263del (p.Leu2755fs)	DMD	Pathogenic	X	31525525	31525525	AG	A	criteria provided, single submitter	ClinGen:CA658799645
Duplication	NM_004006.3(DMD):c.8548-2_8549dup	DMD	Likely pathogenic	X	31497218	31497219	G	GGCCT	criteria provided, single submitter	-
Duplication	NM_004006.3(DMD):c.3603+2dup	DMD	Pathogenic	X	32472776	32472777	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA327996923
single nucleotide variant	NM_004006.3(DMD):c.4618G>T (p.Glu1540Ter)	DMD	Pathogenic	X	32404483	32404483	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412662587
single nucleotide variant	NM_004006.3(DMD):c.1602+1G>T	DMD	Pathogenic/Likely pathogenic	X	32613873	32613873	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412665244
single nucleotide variant	NM_004006.3(DMD):c.7661-1G>C	DMD	Pathogenic	X	31697704	31697704	C	G	criteria provided, single submitter	ClinGen:CA412657030
Duplication	NM_004006.2(DMD):c.10453dup (p.Leu3485Profs)	DMD	Pathogenic	X	31187659	31187660	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799632
single nucleotide variant	NM_004006.3(DMD):c.4120G>T (p.Glu1374Ter)	DMD	Pathogenic	X	32429982	32429982	C	A	criteria provided, single submitter	ClinGen:CA412666549
Deletion	NM_004006.3(DMD):c.5139del (p.Glu1714fs)	DMD	Pathogenic	X	32382714	32382714	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799691
Deletion	NM_004006.3(DMD):c.365del (p.Asn122fs)	DMD	Pathogenic	X	32834750	32834750	AT	A	criteria provided, single submitter	ClinGen:CA658799684

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