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

1
...
134
135
136
137
138

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.8988-1G>T	ATM	Likely pathogenic	11	108236051	108236051	G	T	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108282700)_(108287725_?)del	ATM	Pathogenic	11	108153427	108158452	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108343212)_(108365518_?)del	ATM	Pathogenic	11	108213939	108236245	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108364109)_(108365518_?)del	ATM	Pathogenic	11	108234836	108236245	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.6199-1G>T	ATM	Pathogenic	11	108188099	108188099	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.6573-9G>A	ATM	Pathogenic/Likely pathogenic	11	108196028	108196028	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.8011-2A>C	ATM	Pathogenic	11	108205694	108205694	A	C	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_28687887)_(28696997_?)del	CHEK2	Pathogenic	22	29083875	29092985	na	na	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_28694022)_(28694127_?)del	CHEK2	Pathogenic	22	29090010	29090115	na	na	criteria provided, single submitter	-
Duplication	NC_000022.10:g.(?_29099483)_(29099564_?)dup	CHEK2	Likely pathogenic	22	29099483	29099564	na	na	criteria provided, single submitter	-

1
...
134
135
136
137
138