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_000051.4(ATM):c.2376+1G>T	ATM	Pathogenic/Likely pathogenic	11	108128334	108128334	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA298163
Duplication	NM_000051.4(ATM):c.2564dup (p.Met855fs)	ATM	Pathogenic	11	108137994	108137995	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA298013
Deletion	NM_000051.4(ATM):c.2880del (p.Leu961fs)	ATM	Pathogenic/Likely pathogenic	11	108141829	108141829	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA298014
Indel	NM_000051.4(ATM):c.2897_2899delinsGCCAA (p.Val966fs)	ATM	Pathogenic	11	108141849	108141851	TTC	GCCAA	criteria provided, single submitter	ClinGen:CA298015
single nucleotide variant	NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter)	ATM	Pathogenic/Likely pathogenic	11	108142105	108142105	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA298345
single nucleotide variant	NM_000051.4(ATM):c.3154-2A>G	ATM	Pathogenic	11	108143447	108143447	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA298200
single nucleotide variant	NM_000051.4(ATM):c.3304G>T (p.Gly1102Ter)	ATM	Pathogenic	11	108150237	108150237	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA298219
Deletion	NM_000051.4(ATM):c.3526del (p.Leu1176fs)	ATM	Pathogenic	11	108151843	108151843	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA298016
single nucleotide variant	NM_000051.4(ATM):c.3747-1G>C	ATM	Pathogenic/Likely pathogenic	11	108154953	108154953	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA298228
single nucleotide variant	NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro)	ATM	Likely pathogenic	11	108155055	108155055	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA298351

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