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.5434G>T (p.Glu1812Ter)	BRCA2	Pathogenic	13	32913926	32913926	G	T	reviewed by expert panel	ClinGen:CA022320
Deletion	NM_000059.4(BRCA2):c.5439del (p.Leu1813_Val1814insTer)	BRCA2	Pathogenic	13	32913930	32913930	CT	C	reviewed by expert panel	ClinGen:CA022334
Deletion	NM_000059.4(BRCA2):c.5454del (p.Cys1820fs)	BRCA2	Pathogenic	13	32913946	32913946	CA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5682&base_change=del A,ClinGen:CA022345
Duplication	NM_000059.4(BRCA2):c.5466dup (p.Lys1823Ter)	BRCA2	Pathogenic	13	32913957	32913958	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5694&base_change=ins T,ClinGen:CA022369
Deletion	NM_000059.4(BRCA2):c.5471del (p.Asn1824fs)	BRCA2	Pathogenic	13	32913959	32913959	TA	T	reviewed by expert panel	ClinGen:CA022402
Deletion	NM_000059.4(BRCA2):c.5526del (p.Ala1843fs)	BRCA2	Pathogenic	13	32914018	32914018	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5754&base_change=del T,ClinGen:CA022497
Deletion	NM_000059.4(BRCA2):c.5542del (p.Ser1848fs)	BRCA2	Pathogenic	13	32914034	32914034	CA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5770&base_change=del A,ClinGen:CA022522
single nucleotide variant	NM_000059.4(BRCA2):c.5569G>T (p.Glu1857Ter)	BRCA2	Pathogenic	13	32914061	32914061	G	T	reviewed by expert panel	ClinGen:CA022581
Deletion	NM_000059.4(BRCA2):c.5569_5573del (p.Glu1857fs)	BRCA2	Pathogenic	13	32914061	32914065	TGAAAC	T	reviewed by expert panel	ClinGen:CA022576
Deletion	NM_000059.4(BRCA2):c.5577_5580del (p.Lys1860_Lys1861insTer)	BRCA2	Pathogenic	13	32914069	32914072	TTAAA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA2):5805&base_change=del TAAA,ClinGen:CA022608

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