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.3885del (p.Pro1296fs)	DMD	Pathogenic	X	32459333	32459333	GA	G	criteria provided, single submitter	ClinGen:CA658799662
Deletion	NM_001267550.2(TTN):c.55896_55908del (p.Arg18632fs)	TTN	Likely pathogenic	2	179465723	179465735	GCTTATTGCACTGC	G	criteria provided, single submitter	ClinGen:CA658796062
Duplication	NM_001079802.1(FKTN):c.657dup (p.Gln220Thrfs)	FKTN	Pathogenic	9	108370108	108370109	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797263
single nucleotide variant	NM_004006.3(DMD):c.1812+2T>A	DMD	Pathogenic	X	32591645	32591645	A	T	criteria provided, single submitter	ClinGen:CA412673061
single nucleotide variant	NM_004006.3(DMD):c.7159C>T (p.Gln2387Ter)	DMD	Pathogenic	X	31854876	31854876	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412659306
Indel	NM_004006.3(DMD):c.3433-2_3433-1delinsCC	DMD	Pathogenic	X	32472950	32472951	CT	GG	criteria provided, single submitter	ClinGen:CA658799648
Deletion	NM_004006.3(DMD):c.3309_3313del (p.Ser1104fs)	DMD	Pathogenic	X	32481675	32481679	AGACTG	A	criteria provided, single submitter	ClinGen:CA658799652
Deletion	NM_001267550.2(TTN):c.67609del (p.Ile22537fs)	TTN	Likely pathogenic	2	179444315	179444315	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796010
Duplication	NM_004006.3(DMD):c.595_598dup (p.Phe200fs)	DMD	Pathogenic	X	32827660	32827661	A	AATGC	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.8066_8070del (p.Arg2689fs)	DMD	Pathogenic	X	31645937	31645941	GTAATC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799641

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