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.1184G>A (p.Trp395Ter)	BRCA2	Pathogenic	13	32906799	32906799	G	A	reviewed by expert panel	ClinGen:CA10589073
Insertion	NM_000059.4(BRCA2):c.1189_1190insCAAC (p.Gln397fs)	BRCA2	Pathogenic	13	32906803	32906804	T	TCCAA	reviewed by expert panel	ClinGen:CA10589074
Insertion	NM_000059.4(BRCA2):c.1189_1190insTTAT (p.Gln397fs)	BRCA2	Pathogenic	13	32906804	32906805	C	CTTAT	reviewed by expert panel	ClinGen:CA10589075
Deletion	NM_000059.4(BRCA2):c.1195del (p.Thr399fs)	BRCA2	Pathogenic	13	32906809	32906809	TA	T	reviewed by expert panel	ClinGen:CA10589076
Indel	NM_000059.3(BRCA2):c.1225delinsTTT (p.Glu409fs)	BRCA2	Pathogenic	13	32906840	32906840	G	TTT	reviewed by expert panel	ClinGen:CA10589077
Indel	NM_000059.3(BRCA2):c.1232_1242delinsACAT (p.Ile411fs)	BRCA2	Pathogenic	13	32906847	32906857	TACCCCTATTG	ACAT	reviewed by expert panel	ClinGen:CA10589078
Deletion	NM_000059.4(BRCA2):c.1237del (p.Leu413fs)	BRCA2	Pathogenic	13	32906849	32906849	AC	A	reviewed by expert panel	ClinGen:CA10589079
Deletion	NM_000059.4(BRCA2):c.1249del (p.Ser417fs)	BRCA2	Pathogenic	13	32906862	32906862	AT	A	reviewed by expert panel	ClinGen:CA10589080
single nucleotide variant	NM_000059.4(BRCA2):c.1253C>G (p.Ser418Ter)	BRCA2	Pathogenic	13	32906868	32906868	C	G	reviewed by expert panel	ClinGen:CA10589081
Duplication	NM_000059.4(BRCA2):c.1285_1286dup (p.Leu429fs)	BRCA2	Pathogenic	13	32906899	32906900	A	ATT	reviewed by expert panel	ClinGen:CA10589082

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