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.994_995insG (p.Ile332fs)	BRCA2	Pathogenic	13	32906609	32906610	A	AG	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.1188_1189insTTAG (p.Gln397fs)	BRCA2	Pathogenic	13	32906803	32906804	T	TTTAG	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.1188_1189insTTAT (p.Gln397fs)	BRCA2	Pathogenic	13	32906802	32906803	C	CTTTA	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.1189_1192dup (p.Leu398fs)	BRCA2	Pathogenic	13	32906803	32906804	T	TCAAC	reviewed by expert panel	-
single nucleotide variant	NM_000059.4(BRCA2):c.1337T>A (p.Leu446Ter)	BRCA2	Pathogenic	13	32906952	32906952	T	A	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.1391dup (p.Val465fs)	BRCA2	Pathogenic	13	32907005	32907006	G	GT	reviewed by expert panel	-
Deletion	NM_000059.4(BRCA2):c.1548del (p.Phe516fs)	BRCA2	Pathogenic	13	32907163	32907163	TC	T	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.1584_1585insA (p.Phe529fs)	BRCA2	Pathogenic	13	32907199	32907200	C	CA	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.1703_1704insG (p.Gln569fs)	BRCA2	Pathogenic	13	32907318	32907319	C	CG	reviewed by expert panel	-
Deletion	NM_000059.4(BRCA2):c.1760del (p.Thr587fs)	BRCA2	Pathogenic	13	32907375	32907375	AC	A	reviewed by expert panel	-

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