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
Duplication	NM_001267550.2(TTN):c.69104dup (p.Thr23036fs)	TTN	Likely pathogenic	2	179441957	179441958	T	TA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.63363_63367del (p.Ala21122fs)	TTN	Likely pathogenic	2	179452767	179452771	GCTGCA	G	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.52601T>A (p.Leu17534Ter)	TTN	Likely pathogenic	2	179473009	179473009	A	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.45758_45764del (p.Tyr15253fs)	TTN	Likely pathogenic	2	179485573	179485579	AATGATGT	A	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.1558del (p.Thr520fs)	TTN	Likely pathogenic	2	179656903	179656903	GT	G	criteria provided, single submitter	-
Deletion	NM_000256.3(MYBPC3):c.3116_3120del (p.His1039fs)	MYBPC3	Likely pathogenic	11	47355178	47355182	CTGAAT	C	criteria provided, single submitter	-
Duplication	NM_000256.3(MYBPC3):c.2919dup (p.Gln974fs)	MYBPC3	Likely pathogenic	11	47355547	47355548	G	GA	criteria provided, single submitter	-
Duplication	NM_000256.3(MYBPC3):c.2058_2061dup (p.Thr688fs)	MYBPC3	Likely pathogenic	11	47361207	47361208	T	TGATA	criteria provided, single submitter	-
Deletion	NM_000256.3(MYBPC3):c.1890del (p.Phe631fs)	MYBPC3	Pathogenic	11	47362696	47362696	AG	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000256.3(MYBPC3):c.1851dup (p.Pro618fs)	MYBPC3	Likely pathogenic	11	47362734	47362735	G	GC	criteria provided, single submitter	-

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