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.5237_5238dup (p.Asn1747fs)	BRCA2	Pathogenic	13	32913727	32913728	G	GTC	reviewed by expert panel	ClinGen:CA10581588
Deletion	NM_000059.4(BRCA2):c.6588_6589del (p.Lys2196fs)	BRCA2	Pathogenic	13	32915078	32915079	TAA	T	reviewed by expert panel	ClinGen:CA10581589
Deletion	NM_000059.4(BRCA2):c.6696del (p.Ala2233fs)	BRCA2	Pathogenic	13	32915186	32915186	TA	T	reviewed by expert panel	ClinGen:CA10581590
Deletion	NM_000059.4(BRCA2):c.6825del (p.Glu2275fs)	BRCA2	Pathogenic	13	32915317	32915317	AG	A	reviewed by expert panel	ClinGen:CA10581591
Duplication	NM_000059.4(BRCA2):c.7667dup (p.Asn2556fs)	BRCA2	Pathogenic	13	32931923	32931924	C	CA	reviewed by expert panel	ClinGen:CA10581592
Insertion	NM_000059.4(BRCA2):c.7940_7941insC (p.Ser2648fs)	BRCA2	Pathogenic	13	32936794	32936795	T	TC	reviewed by expert panel	ClinGen:CA10581593
Deletion	NM_007294.4(BRCA1):c.5496_5499del (p.Val1833fs)	BRCA1	Pathogenic	17	41197788	41197791	TCACC	T	reviewed by expert panel	ClinGen:CA10581594
Indel	NM_007294.4(BRCA1):c.5331_5332+1delinsCAACAT	BRCA1	Pathogenic	17	41203079	41203081	CCT	ATGTTG	reviewed by expert panel	ClinGen:CA10581595
Deletion	NM_007294.4(BRCA1):c.5278-2del	BRCA1	Pathogenic	17	41203136	41203136	CT	C	reviewed by expert panel	ClinGen:CA10581596
Deletion	NM_007294.4(BRCA1):c.5181_5182del (p.Lys1727fs)	BRCA1	Pathogenic	17	41215361	41215362	ATT	A	reviewed by expert panel	ClinGen:CA10581597

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