ポイツ・イェガース症候群 - MGenReviews

ポイツ・イェガース症候群

腫瘍性疾患

疾患の紹介

病的バリアントリスト

Excelでダウンロード

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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_000455.5(STK11):c.755_758dup (p.Pro254fs)	STK11	Pathogenic	19	1221231	1221232	C	CTGTA	criteria provided, single submitter	-
Duplication	NM_000455.5(STK11):c.762dup (p.Phe255fs)	STK11	Pathogenic	19	1221235	1221236	A	AC	criteria provided, single submitter	-
Deletion	NM_000455.5(STK11):c.964del (p.Ile322fs)	STK11	Pathogenic	19	1223027	1223027	CA	C	criteria provided, single submitter	-
Duplication	NM_000455.5(STK11):c.965dup (p.Pro324fs)	STK11	Pathogenic	19	1223027	1223028	A	AT	criteria provided, single submitter	-
Deletion	NM_000455.5(STK11):c.291-15_292del	STK11	Likely pathogenic	19	1218400	1218416	TGTCCTCTCTGTCCCAGG	T	criteria provided, single submitter	-
Deletion	NM_000455.5(STK11):c.920+1del	STK11	Pathogenic	19	1222005	1222005	AG	A	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_1206904)_(1219423_?)del	STK11	Pathogenic	19	1206903	1219422	na	na	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_1219314)_(1222016_?)del	STK11	Pathogenic	19	1219313	1222015	na	na	criteria provided, single submitter	-

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