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

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
Insertion	NM_000059.4(BRCA2):c.5676_5677insA (p.Cys1893fs)	BRCA2	Pathogenic	13	32914168	32914169	T	TA	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.5833_5834insG (p.Ile1945fs)	BRCA2	Pathogenic	13	32914325	32914326	A	AG	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.5996dup (p.Phe2000fs)	BRCA2	Pathogenic	13	32914487	32914488	G	GT	reviewed by expert panel	ClinGen:CA645372974
Insertion	NM_000059.4(BRCA2):c.6032_6033insGT (p.Phe2011fs)	BRCA2	Pathogenic	13	32914523	32914524	T	TTG	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.6144_6145insA (p.Val2049fs)	BRCA2	Pathogenic	13	32914636	32914637	T	TA	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.6164dup (p.Ser2056fs)	BRCA2	Pathogenic	13	32914653	32914654	C	CT	reviewed by expert panel	ClinGen:CA645372977
Insertion	NM_000059.4(BRCA2):c.6272_6273insA (p.Ser2091fs)	BRCA2	Pathogenic	13	32914764	32914765	G	GA	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.6419_6420insA (p.Gly2141fs)	BRCA2	Pathogenic	13	32914911	32914912	G	GA	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.6534_6535insA (p.Val2179fs)	BRCA2	Pathogenic	13	32915026	32915027	T	TA	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.6662_6663insAAAG (p.Asn2221fs)	BRCA2	Pathogenic	13	32915154	32915155	A	AAAAG	reviewed by expert panel	-

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