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_000051.4(ATM):c.6399del (p.Gln2133fs)	ATM	Pathogenic	11	108190731	108190731	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656225
single nucleotide variant	NM_000051.4(ATM):c.6573-2A>G	ATM	Likely pathogenic	11	108196035	108196035	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA6265987
Deletion	NM_000051.4(ATM):c.6839del (p.Gln2280fs)	ATM	Pathogenic	11	108196816	108196816	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656273
Deletion	NM_000051.4(ATM):c.6910del (p.Glu2304fs)	ATM	Pathogenic	11	108196886	108196886	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656278
single nucleotide variant	NM_000051.4(ATM):c.7308-2A>C	ATM	Likely pathogenic	11	108200939	108200939	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA382559855
Indel	NM_000051.4(ATM):c.7665delinsGTGA (p.His2555delinsGlnTer)	ATM	Pathogenic	11	108202641	108202641	C	GTGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656297
Deletion	NM_000051.4(ATM):c.72+2del	ATM	Likely pathogenic	11	108098425	108098425	GT	G	criteria provided, single submitter	ClinGen:CA658656134
single nucleotide variant	NM_000051.4(ATM):c.331+2T>G	ATM	Pathogenic	11	108100052	108100052	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA382521846
single nucleotide variant	NM_000051.4(ATM):c.8011-1G>T	ATM	Pathogenic	11	108205695	108205695	G	T	criteria provided, single submitter	ClinGen:CA382561832
Duplication	NM_000051.4(ATM):c.492dup (p.Leu165fs)	ATM	Pathogenic	11	108106555	108106556	T	TG	criteria provided, single submitter	ClinGen:CA658656164

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