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
2
3
4
5
...
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
single nucleotide variant	NM_000455.5(STK11):c.409C>T (p.Gln137Ter)	STK11	Pathogenic	19	1219357	1219357	C	T	criteria provided, single submitter	ClinGen:CA022914
single nucleotide variant	NM_000455.5(STK11):c.464+1G>T	STK11	Pathogenic	19	1219413	1219413	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000455.5(STK11):c.487G>C (p.Gly163Arg)	STK11	Likely pathogenic	19	1220394	1220394	G	C	criteria provided, single submitter	ClinGen:CA023047
single nucleotide variant	NM_000455.5(STK11):c.526G>A (p.Asp176Asn)	STK11	Pathogenic	19	1220433	1220433	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023060,UniProtKB:Q15831#VAR_071058
single nucleotide variant	NM_000455.5(STK11):c.719C>G (p.Ser240Trp)	STK11	Likely pathogenic	19	1220701	1220701	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA023243
single nucleotide variant	NM_000455.5(STK11):c.891G>T (p.Arg297Ser)	STK11	Pathogenic	19	1221976	1221976	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000455.5(STK11):c.582C>A (p.Asp194Glu)	STK11	Likely pathogenic	19	1220489	1220489	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023096
Deletion	NM_000455.5(STK11):c.899del (p.Ile300fs)	STK11	Pathogenic	19	1221984	1221984	AT	A	criteria provided, single submitter	ClinGen:CA023335
single nucleotide variant	NM_000455.5(STK11):c.910C>T (p.Arg304Trp)	STK11	Pathogenic	19	1221995	1221995	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA023348
single nucleotide variant	NM_000455.5(STK11):c.580G>A (p.Asp194Asn)	STK11	Pathogenic/Likely pathogenic	19	1220487	1220487	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA023091,UniProtKB:Q15831#VAR_007921

1
2
3
4
5
...
15