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
Deletion	NM_000059.4(BRCA2):c.7500del (p.Arg2500fs)	BRCA2	Pathogenic	13	32930628	32930628	AG	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.7613_7614dup (p.Gln2539fs)	BRCA2	Pathogenic	13	32930740	32930741	T	TAA	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.7900del (p.Met2634fs)	BRCA2	Pathogenic	13	32936754	32936754	TA	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.8350del (p.Arg2784fs)	BRCA2	Pathogenic	13	32944557	32944557	TC	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.9850_9866del (p.Ser3284fs)	BRCA2	Likely pathogenic	13	32972498	32972514	GTTAGTCCCATTTGTACA	G	criteria provided, single submitter	-
single nucleotide variant	NM_002878.4(RAD51D):c.671T>A (p.Leu224Ter)	RAD51D	Pathogenic	17	33430340	33430340	A	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002878.4(RAD51D):c.508del (p.Val170fs)	RAD51D	Pathogenic	17	33433473	33433473	AC	A	criteria provided, single submitter	-
Deletion	NM_002878.4(RAD51D):c.254del (p.Gly85fs)	RAD51D	Pathogenic	17	33445529	33445529	GC	G	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.4414del (p.Leu1472fs)	BRCA1	Pathogenic	17	41228575	41228575	AG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.4165del (p.Ser1389fs)	BRCA1	Pathogenic	17	41242981	41242981	CT	C	criteria provided, multiple submitters, no conflicts	-

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