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_001276345.2(TNNT2):c.610-1G>A	TNNT2	Likely pathogenic	1	201331151	201331151	C	T	criteria provided, single submitter	ClinGen:CA344204044
Deletion	NM_022114.4(PRDM16):c.1459del (p.Glu487fs)	PRDM16	Likely pathogenic	1	3328220	3328220	CG	C	criteria provided, single submitter	ClinGen:CA645293793
single nucleotide variant	NM_001267550.2(TTN):c.84056C>A (p.Ser28019Ter)	TTN	Likely pathogenic	2	179426803	179426803	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349562639
Duplication	NM_001267550.2(TTN):c.68242_68243dup (p.Pro22749fs)	TTN	Likely pathogenic	2	179443423	179443424	T	TGG	criteria provided, multiple submitters, no conflicts	ClinGen:CA645293794
single nucleotide variant	NM_001267550.2(TTN):c.59977G>T (p.Glu19993Ter)	TTN	Pathogenic/Likely pathogenic	2	179456569	179456569	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349488139
single nucleotide variant	NM_002880.4(RAF1):c.778A>C (p.Thr260Pro)	RAF1	Pathogenic/Likely pathogenic	3	12645691	12645691	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA351512415
Deletion	NM_004168.4(SDHA):c.1del (p.Met1fs)	SDHA	Pathogenic	5	218471	218471	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645293865
single nucleotide variant	NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His)	SCN5A	Pathogenic	3	38592932	38592932	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018760,UniProtKB:Q14524#VAR_001579,OMIM:600163.0002
Indel	NM_000256.3(MYBPC3):c.3782_3792delinsCCTG (p.Glu1261fs)	MYBPC3	Likely pathogenic	11	47353645	47353655	ACACCGTGCCT	CAGG	criteria provided, multiple submitters, no conflicts	ClinGen:CA645294065
single nucleotide variant	NM_000256.3(MYBPC3):c.3781G>T (p.Glu1261Ter)	MYBPC3	Likely pathogenic	11	47353656	47353656	C	A	criteria provided, single submitter	ClinGen:CA380310562

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