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.5433T>A (p.Cys1811Ter)	ATM	Likely pathogenic	11	108173693	108173693	T	A	criteria provided, single submitter	-
Duplication	NM_000051.4(ATM):c.5896dup (p.Ser1966fs)	ATM	Likely pathogenic	11	108181016	108181017	G	GA	criteria provided, single submitter	-
Duplication	NM_000051.4(ATM):c.6325dup (p.Trp2109fs)	ATM	Pathogenic/Likely pathogenic	11	108188225	108188226	G	GT	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000051.4(ATM):c.8106dup (p.Asp2703fs)	ATM	Likely pathogenic	11	108205790	108205791	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.1120C>T (p.Gln374Ter)	ATM	Pathogenic/Likely pathogenic	11	108119714	108119714	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000051.4(ATM):c.3024dup (p.Glu1009Ter)	ATM	Pathogenic/Likely pathogenic	11	108142079	108142080	C	CT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.3102T>G (p.Tyr1034Ter)	ATM	Pathogenic/Likely pathogenic	11	108143283	108143283	T	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.4007del (p.Phe1336fs)	ATM	Pathogenic/Likely pathogenic	11	108158339	108158339	AT	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001330368.2(C11orf65):c.641-6751dup	ATM	Pathogenic/Likely pathogenic	11	108186548	108186549	A	AG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.7141_7151del (p.Asn2381fs)	ATM	Pathogenic/Likely pathogenic	11	108199799	108199809	AAATGGAAAAAT	A	criteria provided, multiple submitters, no conflicts	-

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