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
Deletion	NM_007194.4(CHEK2):c.400_401del (p.Thr133_Asp134insTer)	CHEK2	Pathogenic	22	29121274	29121275	ATC	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000022.11:g.(?_28703495)_(28703576_?)del	CHEK2	Pathogenic	22	29099483	29099564	na	na	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_28709996)_(28712027_?)del	CHEK2	Pathogenic	22	29105984	29108015	na	na	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_28734393)_(28734731_?)del	CHEK2	Pathogenic	22	29130381	29130719	na	na	criteria provided, single submitter	-
Deletion	NM_007194.4(CHEK2):c.869del (p.Asn290fs)	CHEK2	Pathogenic	22	29099532	29099532	GT	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.1110C>A (p.Tyr370Ter)	ATM	Pathogenic/Likely pathogenic	11	108119704	108119704	C	A	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000051.4(ATM):c.2829_2838+16delinsA	ATM	Likely pathogenic	11	108139327	108139352	CCTGCATATGGTGAGTTACGTTAAAT	A	criteria provided, single submitter	-
Deletion	NM_007194.4(CHEK2):c.1164del (p.Thr389fs)	CHEK2	Pathogenic/Likely pathogenic	22	29091793	29091793	TG	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.1745_1749del (p.Phe582fs)	ATM	Pathogenic	11	108122698	108122702	TTATTC	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.8484del (p.Gln2828fs)	ATM	Pathogenic	11	108216534	108216534	CA	C	criteria provided, multiple submitters, no conflicts	-

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