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

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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.2125G>T (p.Glu709Ter)	POLE	Pathogenic	12	133244990	133244990	C	A	criteria provided, single submitter	-
Deletion	NM_006231.4(POLE):c.1623_1633del (p.His543fs)	POLE	Pathogenic	12	133249266	133249276	TCCACGTGGCCC	T	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.1351C>T (p.Gln451Ter)	POLE	Pathogenic	12	133250169	133250169	G	A	criteria provided, single submitter	-
Indel	NM_006231.4(POLE):c.929_932delinsCCAACT (p.Arg310fs)	POLE	Pathogenic	12	133252768	133252771	TCCC	AGTTGG	criteria provided, single submitter	-
Deletion	NM_006231.4(POLE):c.905del (p.Gly302fs)	POLE	Pathogenic	12	133253136	133253136	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.2026+1G>C	POLE	Likely pathogenic	12	133245220	133245220	C	G	criteria provided, single submitter	-
Deletion	NC_000012.12:g.(?_132632305)_(132632805_?)del	POLE	Pathogenic	12	133208891	133209391	na	na	criteria provided, single submitter	-
Deletion	NC_000012.12:g.(?_132672205)_(132681289_?)del	POLE	Pathogenic	12	133248791	133257875	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.2707-2A>G	POLE	Likely pathogenic	12	133238272	133238272	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_006231.4(POLE):c.1106+2T>G	POLE	Likely pathogenic	12	133252319	133252319	A	C	criteria provided, single submitter	-

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