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
single nucleotide variant	NM_000059.4(BRCA2):c.6085G>T (p.Glu2029Ter)	BRCA2	Pathogenic	13	32914577	32914577	G	T	reviewed by expert panel	ClinGen:CA023634
Duplication	NM_000059.4(BRCA2):c.6096dup (p.Ile2033fs)	BRCA2	Pathogenic	13	32914587	32914588	C	CT	reviewed by expert panel	ClinGen:CA023644
Deletion	NM_000059.4(BRCA2):c.6103del (p.Thr2035fs)	BRCA2	Pathogenic	13	32914595	32914595	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6331&base_change=del A,ClinGen:CA023657
Duplication	NM_000059.4(BRCA2):c.610_613dup (p.Ser205delinsThrTer)	BRCA2	Pathogenic	13	32900728	32900729	C	CCTTA	reviewed by expert panel	ClinGen:CA023689
Deletion	NM_000059.4(BRCA2):c.610del (p.Ser205fs)	BRCA2	Pathogenic	13	32900727	32900727	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):838&base_change=del C,ClinGen:CA023661
single nucleotide variant	NM_000059.4(BRCA2):c.6124C>T (p.Gln2042Ter)	BRCA2	Pathogenic	13	32914616	32914616	C	T	reviewed by expert panel	ClinGen:CA023676
Duplication	NM_000059.4(BRCA2):c.6129dup (p.Gly2044fs)	BRCA2	Pathogenic	13	32914616	32914617	C	CA	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6357&base_change=ins A,ClinGen:CA023682
Deletion	NM_000059.4(BRCA2):c.6154del (p.Ser2052fs)	BRCA2	Pathogenic	13	32914645	32914645	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):6382&base_change=del T,ClinGen:CA023702
Deletion	NM_000059.4(BRCA2):c.6164del (p.Phe2055fs)	BRCA2	Pathogenic	13	32914654	32914654	CT	C	reviewed by expert panel	ClinGen:CA023710
single nucleotide variant	NM_000059.4(BRCA2):c.6169G>T (p.Gly2057Ter)	BRCA2	Pathogenic	13	32914661	32914661	G	T	reviewed by expert panel	ClinGen:CA023712

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