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.5557del (p.Cys1853fs)	BRCA2	Pathogenic	13	32914047	32914047	GT	G	reviewed by expert panel	ClinGen:CA022568
Deletion	NM_000059.4(BRCA2):c.3176_3177del (p.Leu1059fs)	BRCA2	Pathogenic	13	32911668	32911669	CTG	C	reviewed by expert panel	ClinGen:CA017476
single nucleotide variant	NM_000059.4(BRCA2):c.7777G>T (p.Gly2593Ter)	BRCA2	Pathogenic	13	32932038	32932038	G	T	reviewed by expert panel	ClinGen:CA025271
single nucleotide variant	NM_000059.4(BRCA2):c.2312T>G (p.Leu771Ter)	BRCA2	Pathogenic	13	32910804	32910804	T	G	reviewed by expert panel	ClinGen:CA014913
Deletion	NM_000059.4(BRCA2):c.5583del (p.Lys1861_Val1862insTer)	BRCA2	Pathogenic	13	32914070	32914070	TA	T	reviewed by expert panel	ClinGen:CA022633
Indel	NM_000059.4(BRCA2):c.8954-1_8955delinsAA	BRCA2	Pathogenic	13	32953886	32953888	GTT	AA	reviewed by expert panel	ClinGen:CA167382
Duplication	NM_000059.4(BRCA2):c.2570dup (p.Arg858fs)	BRCA2	Pathogenic	13	32911061	32911062	C	CT	reviewed by expert panel	ClinGen:CA167960
single nucleotide variant	NM_000059.4(BRCA2):c.3296C>A (p.Ser1099Ter)	BRCA2	Pathogenic	13	32911788	32911788	C	A	reviewed by expert panel	ClinGen:CA017728
Deletion	NM_000059.4(BRCA2):c.9194_9195del (p.Phe3065fs)	BRCA2	Pathogenic	13	32954219	32954220	CTT	C	reviewed by expert panel	ClinGen:CA026025
single nucleotide variant	NM_000059.4(BRCA2):c.5159C>A (p.Ser1720Ter)	BRCA2	Pathogenic	13	32913651	32913651	C	A	reviewed by expert panel	ClinGen:CA021429

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