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
Indel	NM_000059.3(BRCA2):c.4391_4393delinsTT (p.Ser1464fs)	BRCA2	Pathogenic	13	32912883	32912885	CTG	TT	reviewed by expert panel	ClinGen:CA10581587
Duplication	NM_000059.4(BRCA2):c.5237_5238dup (p.Asn1747fs)	BRCA2	Pathogenic	13	32913727	32913728	G	GTC	reviewed by expert panel	ClinGen:CA10581588
Deletion	NM_000059.4(BRCA2):c.6588_6589del (p.Lys2196fs)	BRCA2	Pathogenic	13	32915078	32915079	TAA	T	reviewed by expert panel	ClinGen:CA10581589
Deletion	NM_000059.4(BRCA2):c.6696del (p.Ala2233fs)	BRCA2	Pathogenic	13	32915186	32915186	TA	T	reviewed by expert panel	ClinGen:CA10581590
Deletion	NM_000059.4(BRCA2):c.6825del (p.Glu2275fs)	BRCA2	Pathogenic	13	32915317	32915317	AG	A	reviewed by expert panel	ClinGen:CA10581591
Duplication	NM_000059.4(BRCA2):c.7667dup (p.Asn2556fs)	BRCA2	Pathogenic	13	32931923	32931924	C	CA	reviewed by expert panel	ClinGen:CA10581592
Insertion	NM_000059.4(BRCA2):c.7940_7941insC (p.Ser2648fs)	BRCA2	Pathogenic	13	32936794	32936795	T	TC	reviewed by expert panel	ClinGen:CA10581593
Deletion	NM_000059.4(BRCA2):c.342_343del (p.His114fs)	BRCA2	Pathogenic	13	32899237	32899238	CAT	C	reviewed by expert panel	ClinGen:CA10583065
single nucleotide variant	NM_000059.4(BRCA2):c.1189C>T (p.Gln397Ter)	BRCA2	Pathogenic	13	32906804	32906804	C	T	reviewed by expert panel	ClinGen:CA10583071
single nucleotide variant	NM_000059.4(BRCA2):c.2095C>T (p.Gln699Ter)	BRCA2	Pathogenic	13	32910587	32910587	C	T	reviewed by expert panel	ClinGen:CA10583077

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