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.2023del (p.Thr675fs)	BRCA2	Pathogenic	13	32910513	32910513	GA	G	reviewed by expert panel	ClinGen:CA10589131
Deletion	NM_000059.4(BRCA2):c.2025_2026del (p.Cys676fs)	BRCA2	Pathogenic	13	32910517	32910518	CAT	C	reviewed by expert panel	ClinGen:CA10589132
single nucleotide variant	NM_000059.4(BRCA2):c.2086G>T (p.Glu696Ter)	BRCA2	Pathogenic	13	32910578	32910578	G	T	reviewed by expert panel	ClinGen:CA10589133
Deletion	NM_000059.4(BRCA2):c.2095_2096del (p.Gln699fs)	BRCA2	Pathogenic	13	32910586	32910587	TAC	T	reviewed by expert panel	ClinGen:CA10589134
Deletion	NM_000059.4(BRCA2):c.2111del (p.Pro704fs)	BRCA2	Pathogenic	13	32910600	32910600	AC	A	reviewed by expert panel	ClinGen:CA10589135
single nucleotide variant	NM_000059.4(BRCA2):c.2129C>G (p.Ser710Ter)	BRCA2	Pathogenic	13	32910621	32910621	C	G	reviewed by expert panel	ClinGen:CA10589136
single nucleotide variant	NM_000059.4(BRCA2):c.2137C>T (p.Gln713Ter)	BRCA2	Pathogenic	13	32910629	32910629	C	T	reviewed by expert panel	ClinGen:CA10589137
Duplication	NM_000059.4(BRCA2):c.2147dup (p.Cys717fs)	BRCA2	Pathogenic	13	32910638	32910639	C	CA	reviewed by expert panel	ClinGen:CA10589138
Deletion	NM_000059.4(BRCA2):c.2197del (p.Val733fs)	BRCA2	Pathogenic	13	32910688	32910688	AG	A	reviewed by expert panel	ClinGen:CA10589139
Insertion	NM_000059.4(BRCA2):c.2202_2203insAA (p.Ala735fs)	BRCA2	Pathogenic	13	32910694	32910695	G	GAA	reviewed by expert panel	ClinGen:CA10589140

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