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.4305_4309del (p.Asn1435fs)	BRCA2	Likely pathogenic	13	32912796	32912800	AATATT	A	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.4822G>T (p.Glu1608Ter)	BRCA2	Likely pathogenic	13	32913314	32913314	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.4921G>T (p.Glu1641Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32913413	32913413	G	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.6999dup (p.Pro2334fs)	BRCA2	Likely pathogenic	13	32921024	32921025	T	TA	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.7274del (p.Asn2425fs)	BRCA2	Likely pathogenic	13	32929263	32929263	GA	G	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.7423G>T (p.Glu2475Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32929413	32929413	G	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.7568dup (p.Lys2524fs)	BRCA2	Pathogenic/Likely pathogenic	13	32930696	32930697	C	CT	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.8589dup (p.Ala2864fs)	BRCA2	Pathogenic	13	32945192	32945193	G	GA	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.9770_9771del (p.Lys3257fs)	BRCA2	Pathogenic/Likely pathogenic	13	32972419	32972420	GAA	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.4623_4632del (p.Glu1541fs)	BRCA1	Likely pathogenic	17	41226391	41226400	GTGGCCCAGAC	G	criteria provided, single submitter	-

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