家族性膵がん - MGenReviews

家族性膵がん

腫瘍性疾患

疾患の紹介

病的バリアントリスト

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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.5964_5965del (p.Ser1989fs)	BRCA2	Pathogenic	13	32914455	32914456	GTA	G	reviewed by expert panel	ClinGen:CA023427
Duplication	NM_000059.4(BRCA2):c.5967dup (p.Asp1990fs)	BRCA2	Pathogenic	13	32914458	32914459	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6195&base_change=ins A,ClinGen:CA023429
Deletion	NM_000059.4(BRCA2):c.5968_5969del (p.Asp1990fs)	BRCA2	Pathogenic	13	32914459	32914460	CAG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6196&base_change=del GA,ClinGen:CA023431
Duplication	NM_000059.4(BRCA2):c.5984dup (p.Asn1995fs)	BRCA2	Pathogenic	13	32914472	32914473	C	CA	reviewed by expert panel	ClinGen:CA023449
single nucleotide variant	NM_000059.4(BRCA2):c.5992C>T (p.Gln1998Ter)	BRCA2	Pathogenic	13	32914484	32914484	C	T	reviewed by expert panel	ClinGen:CA023471
Deletion	NM_000059.4(BRCA2):c.5del (p.Pro2fs)	BRCA2	Pathogenic	13	32890601	32890601	GC	G	reviewed by expert panel	ClinGen:CA023497
Deletion	NM_000059.4(BRCA2):c.6001del (p.Ser2001fs)	BRCA2	Pathogenic	13	32914490	32914490	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6229&base_change=del T,ClinGen:CA023500
single nucleotide variant	NM_000059.4(BRCA2):c.6025C>T (p.Gln2009Ter)	BRCA2	Pathogenic	13	32914517	32914517	C	T	reviewed by expert panel	ClinGen:CA023540
Deletion	NM_000059.4(BRCA2):c.6033_6034del (p.Ser2012fs)	BRCA2	Pathogenic	13	32914523	32914524	CTT	C	reviewed by expert panel	ClinGen:CA023552
Insertion	NM_000059.4(BRCA2):c.6033_6034insGT (p.Ser2012fs)	BRCA2	Pathogenic	13	32914524	32914525	T	TTG	reviewed by expert panel	ClinGen:CA023557

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