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_001267550.2(TTN):c.79603C>T (p.Gln26535Ter)	TTN	Pathogenic/Likely pathogenic	2	179431256	179431256	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617347
Deletion	NM_001267550.2(TTN):c.79278del (p.Asp26427fs)	TTN	Likely pathogenic	2	179431581	179431581	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617348
Deletion	NM_001267550.2(TTN):c.78749del (p.Leu26250fs)	TTN	Pathogenic/Likely pathogenic	2	179432110	179432110	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617349
single nucleotide variant	NM_001267550.2(TTN):c.78404G>A (p.Trp26135Ter)	TTN	Pathogenic/Likely pathogenic	2	179432455	179432455	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617350
single nucleotide variant	NM_001267550.2(TTN):c.76278G>A (p.Trp25426Ter)	TTN	Pathogenic	2	179434581	179434581	C	T	criteria provided, single submitter	ClinGen:CA16617351
single nucleotide variant	NM_001267550.2(TTN):c.75081G>A (p.Trp25027Ter)	TTN	Likely pathogenic	2	179435778	179435778	C	T	criteria provided, single submitter	ClinGen:CA16617352
Indel	NM_001267550.2(TTN):c.74368_74376delinsTAAG (p.Leu24790_Asn24792delinsTer)	TTN	Pathogenic/Likely pathogenic	2	179436483	179436491	GTTAGTCAG	CTTA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617353
Duplication	NM_001267550.2(TTN):c.73184dup (p.Tyr24395Ter)	TTN	Pathogenic	2	179437674	179437675	A	AT	criteria provided, single submitter	ClinGen:CA16617354
Deletion	NM_001267550.2(TTN):c.72956_72963del (p.Asp24319fs)	TTN	Pathogenic/Likely pathogenic	2	179437896	179437903	ACACAGTGT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617355
Duplication	NM_001267550.2(TTN):c.69256_69257dup (p.Leu23086fs)	TTN	Likely pathogenic	2	179441804	179441805	C	CAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617357

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