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.1608-1G>C	ATM	Likely pathogenic	11	108122563	108122563	G	C	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.2938del (p.Tyr980fs)	ATM	Pathogenic	11	108141994	108141994	GT	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.3261del (p.Met1087fs)	ATM	Pathogenic	11	108143556	108143556	TG	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.3281del (p.Asn1094fs)	ATM	Pathogenic	11	108143575	108143575	CA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.3436G>T (p.Glu1146Ter)	ATM	Pathogenic	11	108151755	108151755	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.4988del (p.Gly1663fs)	ATM	Pathogenic	11	108168091	108168091	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.6311G>A (p.Trp2104Ter)	ATM	Pathogenic	11	108188212	108188212	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.6975+1G>T	ATM	Likely pathogenic	11	108196953	108196953	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.7788+1G>T	ATM	Likely pathogenic	11	108202765	108202765	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.8440del (p.Glu2814fs)	ATM	Pathogenic	11	108216491	108216491	TG	T	criteria provided, single submitter	-

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