ウィルムス腫瘍 - MGenReviews

ウィルムス腫瘍

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
single nucleotide variant	NM_000059.4(BRCA2):c.6022A>T (p.Lys2008Ter)	BRCA2	Pathogenic	13	32914514	32914514	A	T	reviewed by expert panel	ClinGen:CA335857
single nucleotide variant	NM_000059.4(BRCA2):c.7872T>G (p.Tyr2624Ter)	BRCA2	Pathogenic	13	32936726	32936726	T	G	reviewed by expert panel	ClinGen:CA339124
Deletion	NM_000059.4(BRCA2):c.7946del (p.Pro2649fs)	BRCA2	Pathogenic	13	32936798	32936798	GC	G	reviewed by expert panel	ClinGen:CA336502
single nucleotide variant	NM_000059.4(BRCA2):c.8143A>T (p.Lys2715Ter)	BRCA2	Pathogenic	13	32937482	32937482	A	T	reviewed by expert panel	ClinGen:CA339029
single nucleotide variant	NM_000059.4(BRCA2):c.8420C>A (p.Ser2807Ter)	BRCA2	Pathogenic	13	32944627	32944627	C	A	reviewed by expert panel	ClinGen:CA336160
Deletion	NM_000059.4(BRCA2):c.144del (p.Glu49fs)	BRCA2	Pathogenic	13	32893289	32893289	GA	G	reviewed by expert panel	ClinGen:CA350208
single nucleotide variant	NM_000059.4(BRCA2):c.632-3C>G	BRCA2	Pathogenic/Likely pathogenic	13	32903577	32903577	C	G	reviewed by expert panel	ClinGen:CA348611
single nucleotide variant	NM_000059.4(BRCA2):c.3191C>G (p.Ser1064Ter)	BRCA2	Pathogenic	13	32911683	32911683	C	G	reviewed by expert panel	ClinGen:CA348662
Deletion	NM_000059.4(BRCA2):c.3201del (p.Val1068fs)	BRCA2	Pathogenic	13	32911693	32911693	CT	C	reviewed by expert panel	ClinGen:CA350572
Deletion	NM_000059.4(BRCA2):c.3649del (p.Arg1217fs)	BRCA2	Pathogenic	13	32912141	32912141	TA	T	reviewed by expert panel	ClinGen:CA348063

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