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.108C>G (p.Tyr36Ter)	STK11	Pathogenic	19	1207020	1207020	C	G	criteria provided, single submitter	ClinGen:CA402943853
single nucleotide variant	NM_000455.5(STK11):c.393C>G (p.Tyr131Ter)	STK11	Pathogenic	19	1219341	1219341	C	G	criteria provided, single submitter	ClinGen:CA402948150
single nucleotide variant	NM_000455.5(STK11):c.923G>A (p.Trp308Ter)	STK11	Pathogenic/Likely pathogenic	19	1222986	1222986	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA402951422
Deletion	NM_000455.5(STK11):c.851del (p.Asp284fs)	STK11	Likely pathogenic	19	1221328	1221328	GA	G	criteria provided, single submitter	ClinGen:CA658684212
Deletion	NM_000455.5(STK11):c.180del (p.Ser59_Tyr60insTer)	STK11	Pathogenic	19	1207092	1207092	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA504706283
Deletion	NC_000019.10:g.(?_1218411)_(1220723_?)del	STK11	Pathogenic	19	1218410	1220722	na	na	criteria provided, single submitter	-
Duplication	NM_000455.5(STK11):c.157dup (p.Asp53fs)	STK11	Pathogenic	19	1207064	1207065	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA504706178
single nucleotide variant	NM_000455.5(STK11):c.256C>T (p.Arg86Ter)	STK11	Pathogenic	19	1207168	1207168	C	T	criteria provided, single submitter	ClinGen:CA402944528
single nucleotide variant	NM_000455.5(STK11):c.468C>G (p.Tyr156Ter)	STK11	Pathogenic	19	1220375	1220375	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA402948779
single nucleotide variant	NM_000455.5(STK11):c.598-1G>A	STK11	Pathogenic	19	1220579	1220579	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA402949386

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