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
copy number loss	GRCh37/hg19 Xp21.1(chrX:31766614-31855217)x0	DMD	Pathogenic	X	31766614	31855217	na	na	criteria provided, single submitter	-
copy number loss	GRCh37/hg19 Xp21.1(chrX:31836968-31945018)x1	DMD	Pathogenic	X	31836968	31945018	na	na	criteria provided, single submitter	-
copy number loss	GRCh37/hg19 Xp21.1(chrX:31986184-31986956)x1	DMD	Pathogenic	X	31986184	31986956	na	na	criteria provided, single submitter	-
Duplication	NM_004006.2(DMD):c.32-?_93+?dup62	DMD	Pathogenic	X	33038256	33038317	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.9112T>C (p.Tyr3038His)	TTN	Likely pathogenic	2	179633451	179633451	A	G	criteria provided, single submitter	ClinGen:CA10586349
Deletion	NM_000256.3(MYBPC3):c.1404del (p.Gln469fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47364434	47364434	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586354
Deletion	NM_000256.3(MYBPC3):c.927_928delGG	MYBPC3	Likely pathogenic	11	47367920	47367921	TCC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586355
Duplication	NM_000256.3(MYBPC3):c.332_335dup (p.Glu112delinsAspTer)	MYBPC3	Pathogenic	11	47372123	47372124	C	CTCAG	criteria provided, single submitter	ClinGen:CA10586356
single nucleotide variant	NM_001018005.2(TPM1):c.519G>C (p.Glu173Asp)	TPM1	Likely pathogenic	15	63353094	63353094	G	C	criteria provided, single submitter	ClinGen:CA10586357
single nucleotide variant	NM_170707.4(LMNA):c.1566C>A (p.Cys522Ter)	LMNA	Pathogenic	1	156106981	156106981	C	A	criteria provided, single submitter	ClinGen:CA10587415

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