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

1
...
7
8
9
10
11
...
15

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.497_500dup (p.His168fs)	STK11	Pathogenic	19	1220402	1220403	G	GTACC	criteria provided, single submitter	ClinGen:CA645369764
Duplication	NM_000455.5(STK11):c.540dup (p.Asn181fs)	STK11	Pathogenic	19	1220443	1220444	C	CG	criteria provided, single submitter	ClinGen:CA645369765
single nucleotide variant	NM_000455.5(STK11):c.543C>G (p.Asn181Lys)	STK11	Pathogenic/Likely pathogenic	19	1220450	1220450	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA402949111
single nucleotide variant	NM_000455.5(STK11):c.598-2A>G	STK11	Pathogenic	19	1220578	1220578	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA402949381
Duplication	NM_000455.5(STK11):c.608dup (p.Phe204fs)	STK11	Pathogenic	19	1220587	1220588	A	AC	criteria provided, single submitter	ClinGen:CA645369770
single nucleotide variant	NM_000455.5(STK11):c.640C>T (p.Gln214Ter)	STK11	Pathogenic	19	1220622	1220622	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA402949571
single nucleotide variant	NM_000455.5(STK11):c.658C>T (p.Gln220Ter)	STK11	Pathogenic	19	1220640	1220640	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA402949656
single nucleotide variant	NM_000455.5(STK11):c.709G>C (p.Asp237His)	STK11	Likely pathogenic	19	1220691	1220691	G	C	criteria provided, single submitter	ClinGen:CA402949902
single nucleotide variant	NM_000455.5(STK11):c.734+1G>C	STK11	Pathogenic	19	1220717	1220717	G	C	criteria provided, single submitter	ClinGen:CA402950015
single nucleotide variant	NM_000455.5(STK11):c.734+2T>C	STK11	Likely pathogenic	19	1220718	1220718	T	C	criteria provided, single submitter	ClinGen:CA402950022

1
...
7
8
9
10
11
...
15