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.5247T>G (p.Tyr1749Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32913739	32913739	T	G	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_000059.4(BRCA2):c.6727_6728insAT (p.Ser2243fs)	BRCA2	Pathogenic	13	32915218	32915219	T	TTA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_007294.4(BRCA1):c.5073A>T (p.Thr1691=)	BRCA1	Pathogenic	17	41219626	41219626	T	A	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.4356del (p.Ala1453fs)	BRCA1	Pathogenic/Likely pathogenic	17	41234422	41234422	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_007294.4(BRCA1):c.5152+2T>G	BRCA1	Pathogenic	17	41215889	41215889	A	C	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.5762_5772del (p.Phe1921fs)	BRCA2	Pathogenic	13	32914252	32914262	TTTTTGCTGACA	T	criteria provided, single submitter	-
Indel	NM_000059.4(BRCA2):c.6100delinsTA (p.Arg2034Ter)	BRCA2	Likely pathogenic	13	32914592	32914592	C	TA	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.6421_6424dup (p.Ser2142fs)	BRCA2	Likely pathogenic	13	32914911	32914912	G	GTGGT	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.8808del (p.Asn2937fs)	BRCA2	Likely pathogenic	13	32953507	32953507	TG	T	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.121dup (p.His41fs)	BRCA1	Likely pathogenic	17	41267755	41267756	T	TG	criteria provided, single submitter	-

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