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.1197del (p.Thr401fs)	CHEK2	Pathogenic	22	29091760	29091760	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581047
Deletion	NM_007194.4(CHEK2):c.1096-3_1098del	CHEK2	Likely pathogenic	22	29091859	29091864	TAATCTA	T	criteria provided, single submitter	ClinGen:CA10581054
single nucleotide variant	NM_007194.4(CHEK2):c.1095+1G>A	CHEK2	Likely pathogenic	22	29092888	29092888	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10167734
Deletion	NM_007194.4(CHEK2):c.920del (p.Gly307fs)	CHEK2	Pathogenic	22	29095914	29095914	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581062
single nucleotide variant	NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter)	CHEK2	Pathogenic/Likely pathogenic	22	29099507	29099507	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581066
Deletion	NM_007194.4(CHEK2):c.875_876del (p.Phe291_Phe292insTer)	CHEK2	Pathogenic	22	29099525	29099526	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581069
Duplication	NM_007194.4(CHEK2):c.876dup (p.Asp293Ter)	CHEK2	Pathogenic	22	29099524	29099525	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581070
single nucleotide variant	NM_007194.4(CHEK2):c.304G>T (p.Gly102Ter)	CHEK2	Pathogenic	22	29130406	29130406	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581105
Deletion	NM_007194.4(CHEK2):c.14_20del (p.Ser5fs)	CHEK2	Pathogenic/Likely pathogenic	22	29130690	29130696	AACATCCG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10168085
Deletion	NM_000051.4(ATM):c.192del (p.Leu64fs)	ATM	Pathogenic/Likely pathogenic	11	108099911	108099911	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582781

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