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.7089+2T>G	ATM	Likely pathogenic	11	108198487	108198487	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041425
single nucleotide variant	NM_000051.4(ATM):c.7166C>G (p.Ser2389Ter)	ATM	Pathogenic/Likely pathogenic	11	108199824	108199824	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041426
Deletion	NM_000051.4(ATM):c.7767del (p.Lys2589fs)	ATM	Pathogenic/Likely pathogenic	11	108202741	108202741	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041427
Deletion	NM_000051.4(ATM):c.7880del (p.Tyr2627fs)	ATM	Pathogenic/Likely pathogenic	11	108203580	108203580	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041428
single nucleotide variant	NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter)	ATM	Pathogenic/Likely pathogenic	11	108205783	108205783	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041429
single nucleotide variant	NM_000051.4(ATM):c.8418+1G>A	ATM	Likely pathogenic	11	108214099	108214099	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6266357
single nucleotide variant	NM_000051.4(ATM):c.8671+2T>C	ATM	Likely pathogenic	11	108218094	108218094	T	C	criteria provided, single submitter	ClinGen:CA16041430
Deletion	NM_000051.4(ATM):c.8814_8824del (p.Met2938fs)	ATM	Pathogenic/Likely pathogenic	11	108225565	108225575	TGAGAAACTCTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6266459
single nucleotide variant	NM_000051.4(ATM):c.8851-1G>T	ATM	Pathogenic/Likely pathogenic	11	108235808	108235808	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041431
Duplication	NM_000051.4(ATM):c.9064dup (p.Glu3022fs)	ATM	Pathogenic/Likely pathogenic	11	108236127	108236128	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041432

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