遺伝性乳がん・卵巣がん症候群 - MGenReviews

遺伝性乳がん・卵巣がん症候群

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_000059.4(BRCA2):c.5297dup (p.Asn1766fs)	BRCA2	Pathogenic	13	32913783	32913784	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656391
Indel	NM_000059.3(BRCA2):c.5794_5800delinsT (p.His1932_Gln1934delinsTer)	BRCA2	Pathogenic	13	32914286	32914292	CATAACC	T	criteria provided, single submitter	ClinGen:CA658656403
Deletion	NM_000059.4(BRCA2):c.7215_7218del (p.Val2407fs)	BRCA2	Pathogenic	13	32929204	32929207	GTCTT	G	criteria provided, single submitter	ClinGen:CA658656407
single nucleotide variant	NM_000059.4(BRCA2):c.8548G>T (p.Glu2850Ter)	BRCA2	Pathogenic	13	32945153	32945153	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA387752774
Deletion	NM_000059.4(BRCA2):c.8886_8950del (p.Leu2962fs)	BRCA2	Pathogenic	13	32953583	32953647	TTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA	T	criteria provided, single submitter	ClinGen:CA658656406
single nucleotide variant	NM_000059.4(BRCA2):c.8909G>A (p.Trp2970Ter)	BRCA2	Pathogenic	13	32953608	32953608	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA387757254
Deletion	NM_000059.4(BRCA2):c.8945_8946del (p.Lys2982fs)	BRCA2	Pathogenic	13	32953641	32953642	GAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656412
Deletion	NC_000017.11:g.(?_35100947)_(35101042_?)del	RAD51D	Likely pathogenic	17	33427966	33428061	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_35106380)_(35107453_?)del	RAD51D	Pathogenic	17	33433399	33434472	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43045672)_(43115785_?)del	BRCA1	Pathogenic	17	41197689	41267802	na	na	criteria provided, single submitter	-

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