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_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)	TTN	Pathogenic/Likely pathogenic	2	179404492	179404493	CCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA141479
single nucleotide variant	NM_001267550.2(TTN):c.102949C>T (p.Gln34317Ter)	TTN	Likely pathogenic	2	179398393	179398393	G	A	criteria provided, single submitter	ClinGen:CA261918
single nucleotide variant	NM_001267550.2(TTN):c.12208G>T (p.Glu4070Ter)	TTN	Likely pathogenic	2	179605752	179605752	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261922
Duplication	NM_170707.4(LMNA):c.1112_1115dup (p.Glu372fs)	LMNA	Pathogenic/Likely pathogenic	1	156105865	156105866	C	CATGG	criteria provided, multiple submitters, no conflicts	ClinGen:CA261950
single nucleotide variant	NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)	LMNA	Pathogenic/Likely pathogenic	1	156105884	156105884	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016641
single nucleotide variant	NM_170707.4(LMNA):c.1146C>T (p.Gly382=)	LMNA	Pathogenic/Likely pathogenic	1	156105901	156105901	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016690
Duplication	NM_170707.4(LMNA):c.1526dup (p.Thr510fs)	LMNA	Pathogenic	1	156106935	156106936	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA017401
single nucleotide variant	NM_170707.4(LMNA):c.154C>G (p.Leu52Val)	LMNA	Likely pathogenic	1	156084863	156084863	C	G	criteria provided, single submitter	ClinGen:CA017415
single nucleotide variant	NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys)	LMNA	Pathogenic/Likely pathogenic	1	156107457	156107457	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017615,UniProtKB:P02545#VAR_039786
Duplication	NM_170707.4(LMNA):c.348dup (p.Lys117fs)	LMNA	Pathogenic	1	156085056	156085057	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA017938

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