肥大型心筋症 - MGenReviews

肥大型心筋症

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_000256.3(MYBPC3):c.2148+1G>T	MYBPC3	Likely pathogenic	11	47360874	47360874	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616918
single nucleotide variant	NM_001267550.2(TTN):c.107377+5G>A	TTN	Likely pathogenic	2	179392996	179392996	C	T	criteria provided, single submitter	ClinGen:CA1984962
single nucleotide variant	NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter)	TTN	Pathogenic/Likely pathogenic	2	179400887	179400887	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617330
single nucleotide variant	NM_001267550.2(TTN):c.99502G>T (p.Glu33168Ter)	TTN	Likely pathogenic	2	179402432	179402432	C	A	criteria provided, single submitter	ClinGen:CA16617331
Duplication	NM_001267550.2(TTN):c.97114dup (p.Arg32372fs)	TTN	Likely pathogenic	2	179407466	179407467	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617332
Deletion	NM_001267550.2(TTN):c.95549del (p.Lys31850fs)	TTN	Likely pathogenic	2	179410288	179410288	CT	C	criteria provided, single submitter	ClinGen:CA16617333
Duplication	NM_001267550.2(TTN):c.95469dup (p.Ile31824fs)	TTN	Likely pathogenic	2	179410367	179410368	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617334
Duplication	NM_001267550.2(TTN):c.95082dup (p.Gly31695fs)	TTN	Pathogenic	2	179410975	179410976	C	CG	criteria provided, single submitter	ClinGen:CA16617335
single nucleotide variant	NM_001267550.2(TTN):c.95032T>G (p.Cys31678Gly)	TTN	Likely pathogenic	2	179411026	179411026	A	C	criteria provided, single submitter	ClinGen:CA16617336
Indel	NM_001267550.2(TTN):c.94178_94179delinsC (p.Lys31393fs)	TTN	Pathogenic	2	179412174	179412175	TT	G	criteria provided, single submitter	ClinGen:CA16617337

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