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.3396del (p.Lys1132fs)	BRCA2	Pathogenic	13	32911885	32911885	GA	G	reviewed by expert panel	ClinGen:CA10579575
single nucleotide variant	NM_000059.4(BRCA2):c.3405C>A (p.Tyr1135Ter)	BRCA2	Pathogenic	13	32911897	32911897	C	A	reviewed by expert panel	ClinGen:CA10579576
single nucleotide variant	NM_000059.4(BRCA2):c.3455T>A (p.Leu1152Ter)	BRCA2	Pathogenic	13	32911947	32911947	T	A	reviewed by expert panel	ClinGen:CA10579579
Deletion	NM_000059.4(BRCA2):c.3636_3639del (p.Asn1212fs)	BRCA2	Pathogenic	13	32912126	32912129	AAATG	A	reviewed by expert panel	ClinGen:CA10579583
single nucleotide variant	NM_000059.4(BRCA2):c.4003G>T (p.Glu1335Ter)	BRCA2	Pathogenic	13	32912495	32912495	G	T	reviewed by expert panel	ClinGen:CA6940739
Insertion	NM_000059.4(BRCA2):c.4092_4093insAA (p.Cys1365fs)	BRCA2	Pathogenic	13	32912583	32912584	T	TAA	reviewed by expert panel	ClinGen:CA10579601
Duplication	NM_000059.4(BRCA2):c.4177dup (p.Ala1393fs)	BRCA2	Pathogenic	13	32912668	32912669	T	TG	reviewed by expert panel	ClinGen:CA10579602
Deletion	NM_000059.4(BRCA2):c.4245del (p.Glu1415fs)	BRCA2	Pathogenic	13	32912737	32912737	AG	A	reviewed by expert panel	ClinGen:CA6940762
Deletion	NM_000059.4(BRCA2):c.4383_4384del (p.Leu1462fs)	BRCA2	Pathogenic	13	32912875	32912876	CCT	C	reviewed by expert panel	ClinGen:CA10579614
Deletion	NM_000059.4(BRCA2):c.4447del (p.Thr1483fs)	BRCA2	Pathogenic	13	32912937	32912937	GA	G	reviewed by expert panel	ClinGen:CA10579616

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