ポリメラーゼ校正関連ポリポーシス - MGenReviews

ポリメラーゼ校正関連ポリポーシス

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
...
10

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
Deletion	NM_006231.4(POLE):c.4900del (p.Arg1634fs)	POLE	Pathogenic	12	133219144	133219144	CG	C	criteria provided, single submitter	ClinGen:CA658658216
single nucleotide variant	NM_006231.4(POLE):c.4150-1G>C	POLE	Likely pathogenic	12	133220564	133220564	C	G	criteria provided, single submitter	ClinGen:CA387382572
single nucleotide variant	NM_006231.4(POLE):c.2706+2T>C	POLE	Likely pathogenic	12	133240588	133240588	A	G	criteria provided, single submitter	ClinGen:CA387394843
single nucleotide variant	NM_006231.4(POLE):c.1686+1G>C	POLE	Likely pathogenic	12	133249212	133249212	C	G	criteria provided, single submitter	ClinGen:CA387356438
Deletion	NM_006231.4(POLE):c.6434_6438del (p.Arg2145fs)	POLE	Pathogenic	12	133202796	133202800	GGTCTC	G	criteria provided, single submitter	ClinGen:CA658798011
Deletion	NM_006231.4(POLE):c.6072del (p.Pro2024_Val2025insTer)	POLE	Pathogenic	12	133209314	133209314	CG	C	criteria provided, single submitter	ClinGen:CA6892286
Duplication	NM_006231.4(POLE):c.4959dup (p.His1654fs)	POLE	Pathogenic	12	133218976	133218977	G	GA	criteria provided, single submitter	ClinGen:CA658798021
Deletion	NM_006231.4(POLE):c.4689del (p.Ile1564fs)	POLE	Pathogenic	12	133219445	133219445	TG	T	criteria provided, single submitter	ClinGen:CA658798024
Deletion	NM_006231.4(POLE):c.4420del (p.Ala1474fs)	POLE	Pathogenic	12	133220017	133220017	GC	G	criteria provided, single submitter	ClinGen:CA658798028
Deletion	NM_006231.4(POLE):c.4193_4194del (p.Leu1397_Tyr1398insTer)	POLE	Pathogenic	12	133220519	133220520	CAT	C	criteria provided, single submitter	ClinGen:CA608514131

1
2
3
4
5
...
10