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.964_968del (p.Glu322fs)	ATM	Pathogenic	11	108117751	108117755	AATGAG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656195
Duplication	NM_000051.4(ATM):c.441dup (p.Asp148fs)	ATM	Pathogenic	11	108106503	108106504	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656155
Duplication	NM_000051.4(ATM):c.442dup (p.Asp148fs)	ATM	Pathogenic	11	108106506	108106507	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656156
single nucleotide variant	NM_000051.4(ATM):c.1003G>T (p.Gly335Ter)	ATM	Pathogenic/Likely pathogenic	11	108117792	108117792	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382531372
single nucleotide variant	NM_000051.4(ATM):c.1178G>A (p.Trp393Ter)	ATM	Pathogenic	11	108119772	108119772	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382532540
Deletion	NM_000051.4(ATM):c.1464del (p.Trp488fs)	ATM	Pathogenic	11	108121655	108121655	TG	T	criteria provided, single submitter	ClinGen:CA658656146
single nucleotide variant	NM_000051.4(ATM):c.73-1G>A	ATM	Pathogenic/Likely pathogenic	11	108098502	108098502	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382519448
Duplication	NM_000051.4(ATM):c.2749dup (p.Ser917fs)	ATM	Pathogenic	11	108139246	108139247	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656142
single nucleotide variant	NM_000051.4(ATM):c.2838+1G>T	ATM	Likely pathogenic	11	108139337	108139337	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382545873
single nucleotide variant	NM_000051.4(ATM):c.186-1G>A	ATM	Likely pathogenic	11	108099904	108099904	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382520987

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