遺伝性乳がん (ATM/CHEK2) - MGenReviews

遺伝性乳がん (ATM/CHEK2)

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_007194.4(CHEK2):c.1461+2T>C	CHEK2	Likely pathogenic	22	29090018	29090018	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007194.4(CHEK2):c.952del (p.Arg318fs)	CHEK2	Pathogenic/Likely pathogenic	22	29095882	29095882	CG	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007194.4(CHEK2):c.792_792+1del	CHEK2	Likely pathogenic	22	29107896	29107897	ACT	A	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_28694026)_(28734727_?)del	CHEK2	Pathogenic	22	29090014	29130715	na	na	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_28709996)_(28734731_?)del	CHEK2	Pathogenic	22	29105984	29130719	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_007194.4(CHEK2):c.1095+2T>G	CHEK2	Likely pathogenic	22	29092887	29092887	A	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007194.4(CHEK2):c.1007del (p.Gln336fs)	CHEK2	Pathogenic	22	29095827	29095827	CT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007194.4(CHEK2):c.985del (p.Tyr329fs)	CHEK2	Pathogenic	22	29095849	29095849	TA	T	criteria provided, multiple submitters, no conflicts	-
Indel	NM_007194.4(CHEK2):c.908+1_908+8delinsTT	CHEK2	Likely pathogenic	22	29099485	29099492	CTACTTAC	AA	criteria provided, single submitter	-
Deletion	NM_007194.4(CHEK2):c.432del (p.Arg145fs)	CHEK2	Pathogenic	22	29121243	29121243	GA	G	criteria provided, multiple submitters, no conflicts	-

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