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
single nucleotide variant	NM_000059.4(BRCA2):c.4325C>G (p.Ser1442Ter)	BRCA2	Pathogenic	13	32912817	32912817	C	G	reviewed by expert panel	ClinGen:CA019993
Deletion	NM_000059.4(BRCA2):c.4552del (p.Glu1518fs)	BRCA2	Pathogenic	13	32913044	32913044	AG	A	reviewed by expert panel	ClinGen:CA020414
single nucleotide variant	NM_000059.4(BRCA2):c.4847T>G (p.Leu1616Ter)	BRCA2	Pathogenic	13	32913339	32913339	T	G	reviewed by expert panel	ClinGen:CA020903
Duplication	NM_000059.4(BRCA2):c.4964dup (p.Tyr1655Ter)	BRCA2	Pathogenic	13	32913455	32913456	T	TA	reviewed by expert panel	ClinGen:CA021064
Deletion	NM_000059.4(BRCA2):c.4990_4991del (p.Val1663_Ile1664insTer)	BRCA2	Pathogenic	13	32913482	32913483	CAT	C	reviewed by expert panel	ClinGen:CA021114
single nucleotide variant	NM_000059.4(BRCA2):c.5054C>A (p.Ser1685Ter)	BRCA2	Pathogenic	13	32913546	32913546	C	A	reviewed by expert panel	ClinGen:CA021187
Duplication	NM_000059.4(BRCA2):c.512dup (p.Lys172fs)	BRCA2	Pathogenic	13	32900414	32900415	G	GT	reviewed by expert panel	ClinGen:CA021323
Deletion	NM_000059.4(BRCA2):c.5215del (p.Tyr1739fs)	BRCA2	Pathogenic	13	32913706	32913706	CT	C	reviewed by expert panel	ClinGen:CA021718
single nucleotide variant	NM_000059.4(BRCA2):c.1907C>G (p.Ser636Ter)	BRCA2	Pathogenic	13	32907522	32907522	C	G	reviewed by expert panel	ClinGen:CA013790
Duplication	NM_000059.4(BRCA2):c.2091dup (p.Leu698fs)	BRCA2	Pathogenic	13	32910578	32910579	G	GA	reviewed by expert panel	ClinGen:CA014300

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