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
Deletion	NM_000059.4(BRCA2):c.161del (p.Asn54fs)	BRCA2	Pathogenic	13	32893303	32893303	TA	T	reviewed by expert panel	ClinGen:CA10575903
Deletion	NM_000059.4(BRCA2):c.1190_1197del (p.Gln397fs)	BRCA2	Pathogenic	13	32906804	32906811	TCAACTAAC	T	criteria provided, single submitter	ClinGen:CA10575906
Deletion	NM_000059.4(BRCA2):c.3001del (p.Ser1001fs)	BRCA2	Pathogenic	13	32911491	32911491	AT	A	criteria provided, single submitter	ClinGen:CA10575913
Deletion	NM_000059.4(BRCA2):c.3834_3835del (p.His1278fs)	BRCA2	Pathogenic	13	32912325	32912326	CAT	C	reviewed by expert panel	ClinGen:CA10575917
Deletion	NM_000059.4(BRCA2):c.4041_4042del (p.Cys1348fs)	BRCA2	Pathogenic	13	32912532	32912533	GTT	G	criteria provided, single submitter	ClinGen:CA10575918
Deletion	NM_000059.4(BRCA2):c.4148_4149del (p.Asp1383fs)	BRCA2	Pathogenic	13	32912640	32912641	GAT	G	reviewed by expert panel	ClinGen:CA10575919
single nucleotide variant	NM_000059.4(BRCA2):c.5206C>T (p.Gln1736Ter)	BRCA2	Pathogenic	13	32913698	32913698	C	T	reviewed by expert panel	ClinGen:CA10575921
Duplication	NM_000059.4(BRCA2):c.6532dup (p.His2178fs)	BRCA2	Pathogenic	13	32915023	32915024	T	TC	reviewed by expert panel	ClinGen:CA10575925
Deletion	NM_000059.4(BRCA2):c.9011del (p.Lys3004fs)	BRCA2	Pathogenic	13	32953942	32953942	GA	G	reviewed by expert panel	ClinGen:CA10575932
single nucleotide variant	NM_000059.4(BRCA2):c.9318G>A (p.Trp3106Ter)	BRCA2	Pathogenic	13	32968887	32968887	G	A	reviewed by expert panel	ClinGen:CA10575935

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