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

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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_006231.4(POLE):c.3534C>A (p.Tyr1178Ter)	POLE	Pathogenic	12	133233770	133233770	G	T	criteria provided, single submitter	ClinGen:CA387388492
Deletion	NM_006231.4(POLE):c.2731del (p.Gln911fs)	POLE	Pathogenic	12	133238246	133238246	TG	T	criteria provided, single submitter	ClinGen:CA658797985
Deletion	NM_006231.4(POLE):c.2706+1_2706+5del	POLE	Likely pathogenic	12	133240585	133240589	ACTCAC	A	criteria provided, single submitter	ClinGen:CA6893476
Duplication	NM_006231.4(POLE):c.1836dup (p.Val613fs)	POLE	Pathogenic	12	133245483	133245484	C	CG	criteria provided, single submitter	ClinGen:CA482849577
single nucleotide variant	NM_006231.4(POLE):c.331-1G>A	POLE	Likely pathogenic	12	133256633	133256633	C	T	criteria provided, single submitter	ClinGen:CA387368431
single nucleotide variant	NM_006231.4(POLE):c.3459+1G>A	POLE	Likely pathogenic	12	133233934	133233934	C	T	criteria provided, single submitter	ClinGen:CA387388924
single nucleotide variant	NM_006231.4(POLE):c.340C>T (p.Arg114Ter)	POLE	Pathogenic	12	133256623	133256623	G	A	criteria provided, single submitter	ClinGen:CA387368351
Deletion	NM_006231.4(POLE):c.5932_5942del (p.Asn1978fs)	POLE	Pathogenic	12	133210834	133210844	GTTCCAGTTGTT	G	criteria provided, single submitter	ClinGen:CA658798015
Deletion	NM_006231.4(POLE):c.2164del (p.Arg722fs)	POLE	Pathogenic	12	133244951	133244951	CT	C	criteria provided, single submitter	ClinGen:CA658797990
single nucleotide variant	NM_006231.4(POLE):c.5867A>T (p.Glu1956Val)	POLE	Likely pathogenic	12	133210909	133210909	T	A	criteria provided, single submitter	-

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