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.541A>G (p.Asn181Asp)	STK11	Likely pathogenic	19	1220448	1220448	A	G	criteria provided, single submitter	ClinGen:CA10586375
single nucleotide variant	NM_000455.5(STK11):c.542A>G (p.Asn181Ser)	STK11	Pathogenic/Likely pathogenic	19	1220449	1220449	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586687
single nucleotide variant	NM_000455.5(STK11):c.597+1G>T	STK11	Pathogenic/Likely pathogenic	19	1220505	1220505	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588682
Deletion	NC_000019.10:g.(?_1206908)_(1226652_?)del	STK11	Pathogenic	19	1206907	1226651	na	na	criteria provided, single submitter	-
Deletion	NM_000455.5(STK11):c.326del (p.Asn109fs)	STK11	Pathogenic	19	1218447	1218447	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603339
single nucleotide variant	NM_000455.5(STK11):c.717G>A (p.Trp239Ter)	STK11	Pathogenic	19	1220699	1220699	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603426
single nucleotide variant	NM_000455.5(STK11):c.921-1G>C	STK11	Pathogenic/Likely pathogenic	19	1222983	1222983	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043068
single nucleotide variant	NM_000455.5(STK11):c.735-1G>A	STK11	Pathogenic	19	1221211	1221211	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043164
Deletion	NM_000455.5(STK11):c.790_793del (p.Phe264fs)	STK11	Pathogenic	19	1221264	1221267	GTTGT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043168
single nucleotide variant	NM_000455.5(STK11):c.109C>T (p.Gln37Ter)	STK11	Pathogenic	19	1207021	1207021	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602777

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