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
Deletion	NM_000051.4(ATM):c.6729_6730del (p.Glu2245fs)	ATM	Pathogenic	11	108196192	108196193	CAA	C	criteria provided, single submitter	ClinGen:CA16613193
Deletion	NC_000011.10:g.(?_108243953)_(108369099_?)del	ATM	Pathogenic	11	108114680	108239826	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108297287)_(108335961_?)del	ATM	Pathogenic	11	108168014	108206688	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108325310)_(108369099_?)del	ATM	Pathogenic	11	108196037	108239826	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108327645)_(108331557_?)del	ATM	Likely pathogenic	11	108198372	108202284	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.8880G>A (p.Trp2960Ter)	ATM	Pathogenic	11	108235838	108235838	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613231
Deletion	NM_000051.4(ATM):c.1783_1802+91del	ATM	Likely pathogenic	11	108122738	108122848	AAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGATGCCAGATGGCTTTATTTTAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613267
Deletion	NC_000011.10:g.(?_108280995)_(108289801_?)del	ATM	Pathogenic	11	108151722	108160528	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108343222)_(108369099_?)del	ATM	Pathogenic	11	108213949	108239826	na	na	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.710del (p.Thr237fs)	ATM	Pathogenic	11	108115562	108115562	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613298

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