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
single nucleotide variant	NM_000455.5(STK11):c.711C>G (p.Asp237Glu)	STK11	Likely pathogenic	19	1220693	1220693	C	G	criteria provided, single submitter	ClinGen:CA16608016
single nucleotide variant	NM_000455.5(STK11):c.766G>T (p.Glu256Ter)	STK11	Pathogenic	19	1221243	1221243	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608830
Deletion	NC_000019.10:g.(?_1218417)_(1219413_?)del	STK11	Pathogenic	19	1218416	1219412	na	na	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_1218417)_(1223172_?)del	STK11	Pathogenic	19	1218416	1223171	na	na	criteria provided, single submitter	-
Deletion	NM_000455.5(STK11):c.935_936del (p.Lys312fs)	STK11	Pathogenic	19	1222997	1222998	GAA	G	criteria provided, single submitter	ClinGen:CA16616012
Duplication	NM_000455.5(STK11):c.842dup (p.Leu282fs)	STK11	Pathogenic	19	1221313	1221314	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616021
Deletion	NC_000019.10:g.(?_1221949)_(1222006_?)del	STK11	Pathogenic	19	1221948	1222005	na	na	criteria provided, single submitter	-
Deletion	NM_000455.5(STK11):c.129del (p.Lys44fs)	STK11	Pathogenic	19	1207040	1207040	GC	G	criteria provided, single submitter	ClinGen:CA16616219
Deletion	NM_000455.5(STK11):c.989_996del (p.Asp330fs)	STK11	Pathogenic	19	1223050	1223057	AGGACCGGT	A	criteria provided, single submitter	ClinGen:CA16616228
single nucleotide variant	NM_000455.5(STK11):c.358G>T (p.Glu120Ter)	STK11	Pathogenic/Likely pathogenic	19	1218483	1218483	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620744

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