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
Duplication	NM_000059.4(BRCA2):c.8393dup (p.Pro2798_Arg2799insTer)	BRCA2	Pathogenic	13	32944597	32944598	A	AC	reviewed by expert panel	ClinGen:CA10589493
single nucleotide variant	NM_000059.4(BRCA2):c.8395A>T (p.Arg2799Ter)	BRCA2	Pathogenic	13	32944602	32944602	A	T	reviewed by expert panel	ClinGen:CA10589494
Indel	NM_000059.3(BRCA2):c.8401_8403delinsAAAA (p.Phe2801fs)	BRCA2	Pathogenic	13	32944608	32944610	TTT	AAAA	reviewed by expert panel	ClinGen:CA10589495
Insertion	NM_000059.4(BRCA2):c.8434_8435insC (p.Gly2812fs)	BRCA2	Pathogenic	13	32944641	32944642	G	GC	reviewed by expert panel	ClinGen:CA10589496
Deletion	NM_000059.4(BRCA2):c.8438del (p.Gly2813fs)	BRCA2	Pathogenic	13	32944644	32944644	AG	A	reviewed by expert panel	ClinGen:CA10589497
Duplication	NM_000059.4(BRCA2):c.8466dup (p.Gln2823fs)	BRCA2	Pathogenic	13	32944671	32944672	A	AT	reviewed by expert panel	ClinGen:CA10589498
single nucleotide variant	NM_000059.4(BRCA2):c.8470A>T (p.Arg2824Ter)	BRCA2	Pathogenic	13	32944677	32944677	A	T	reviewed by expert panel	ClinGen:CA10589499
single nucleotide variant	NM_000059.4(BRCA2):c.8478C>G (p.Tyr2826Ter)	BRCA2	Pathogenic	13	32944685	32944685	C	G	reviewed by expert panel	ClinGen:CA10589500
single nucleotide variant	NM_000059.4(BRCA2):c.8504C>G (p.Ser2835Ter)	BRCA2	Pathogenic	13	32945109	32945109	C	G	reviewed by expert panel	ClinGen:CA10589501
single nucleotide variant	NM_000059.4(BRCA2):c.8513T>A (p.Leu2838Ter)	BRCA2	Pathogenic	13	32945118	32945118	T	A	reviewed by expert panel	ClinGen:CA10589502

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