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
Duplication	NM_000051.4(ATM):c.357dup (p.Leu120fs)	ATM	Pathogenic	11	108106420	108106421	G	GA	criteria provided, single submitter	-
Duplication	NM_000051.4(ATM):c.681dup (p.Gly228fs)	ATM	Pathogenic	11	108115532	108115533	C	CA	criteria provided, single submitter	-
Duplication	NM_000051.4(ATM):c.825_849dup (p.Gln284delinsLysArgSerHisTyrTer)	ATM	Pathogenic	11	108115673	108115674	C	CTTTAAAAGAAGTCATTATTGAATTA	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.929del (p.Ser310fs)	ATM	Pathogenic	11	108117718	108117718	AG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.1304T>G (p.Leu435Ter)	ATM	Pathogenic	11	108121496	108121496	T	G	criteria provided, single submitter	-
Duplication	NM_000051.4(ATM):c.1772dup (p.Asn591fs)	ATM	Pathogenic	11	108122724	108122725	G	GA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.1931C>G (p.Ser644Ter)	ATM	Pathogenic	11	108124573	108124573	C	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.1995del (p.Ile665fs)	ATM	Pathogenic	11	108124636	108124636	AT	A	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.2019del (p.Lys673fs)	ATM	Pathogenic	11	108124661	108124661	AG	A	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.2116_2117del (p.Ser706fs)	ATM	Pathogenic	11	108124757	108124758	ACT	A	criteria provided, single submitter	-

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