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.1913T>G (p.Leu638Ter)	BRCA2	Pathogenic	13	32910405	32910405	T	G	reviewed by expert panel	ClinGen:CA10589127
Insertion	NM_000059.4(BRCA2):c.1923_1924insAT (p.Ser642fs)	BRCA2	Pathogenic	13	32910414	32910415	C	CTA	reviewed by expert panel	ClinGen:CA10589128
single nucleotide variant	NM_000059.4(BRCA2):c.1943C>G (p.Ser648Ter)	BRCA2	Pathogenic	13	32910435	32910435	C	G	reviewed by expert panel	ClinGen:CA10589129
Duplication	NM_000059.4(BRCA2):c.1981_1984dup (p.Ser662Ter)	BRCA2	Pathogenic	13	32910470	32910471	A	ACTAG	reviewed by expert panel	ClinGen:CA10589130
Deletion	NM_000059.4(BRCA2):c.2023del (p.Thr675fs)	BRCA2	Pathogenic	13	32910513	32910513	GA	G	reviewed by expert panel	ClinGen:CA10589131
Deletion	NM_000059.4(BRCA2):c.2025_2026del (p.Cys676fs)	BRCA2	Pathogenic	13	32910517	32910518	CAT	C	reviewed by expert panel	ClinGen:CA10589132
single nucleotide variant	NM_000059.4(BRCA2):c.2086G>T (p.Glu696Ter)	BRCA2	Pathogenic	13	32910578	32910578	G	T	reviewed by expert panel	ClinGen:CA10589133
Deletion	NM_000059.4(BRCA2):c.2095_2096del (p.Gln699fs)	BRCA2	Pathogenic	13	32910586	32910587	TAC	T	reviewed by expert panel	ClinGen:CA10589134
Deletion	NM_000059.4(BRCA2):c.2111del (p.Pro704fs)	BRCA2	Pathogenic	13	32910600	32910600	AC	A	reviewed by expert panel	ClinGen:CA10589135
single nucleotide variant	NM_000059.4(BRCA2):c.2129C>G (p.Ser710Ter)	BRCA2	Pathogenic	13	32910621	32910621	C	G	reviewed by expert panel	ClinGen:CA10589136

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