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.9588del (p.Asp3197fs)	BRCA2	Pathogenic	13	32971119	32971119	TA	T	reviewed by expert panel	ClinGen:CA10577504
single nucleotide variant	NM_000059.4(BRCA2):c.171C>A (p.Tyr57Ter)	BRCA2	Pathogenic	13	32893317	32893317	C	A	reviewed by expert panel	ClinGen:CA10579446
Deletion	NM_000059.4(BRCA2):c.176del (p.Pro59fs)	BRCA2	Pathogenic	13	32893321	32893321	AC	A	reviewed by expert panel	ClinGen:CA10579447
Deletion	NM_000059.4(BRCA2):c.413_417del (p.Ser137_Cys138insTer)	BRCA2	Pathogenic	13	32899305	32899309	TTCTTG	T	reviewed by expert panel	ClinGen:CA10579457
Duplication	NM_000059.4(BRCA2):c.451_452dup (p.Val151_Thr152insTer)	BRCA2	Pathogenic	13	32900261	32900262	A	ATG	reviewed by expert panel	ClinGen:CA10579459
Deletion	NM_000059.4(BRCA2):c.668del (p.His223fs)	BRCA2	Pathogenic	13	32903616	32903616	CA	C	reviewed by expert panel	ClinGen:CA10579466
single nucleotide variant	NM_000059.4(BRCA2):c.721A>T (p.Lys241Ter)	BRCA2	Pathogenic	13	32905095	32905095	A	T	reviewed by expert panel	ClinGen:CA10579470
Deletion	NM_000059.4(BRCA2):c.733del (p.Arg245fs)	BRCA2	Pathogenic	13	32905107	32905107	TA	T	reviewed by expert panel	ClinGen:CA10579471
Deletion	NM_000059.4(BRCA2):c.834del (p.Cys279fs)	BRCA2	Pathogenic	13	32906449	32906449	GC	G	reviewed by expert panel	ClinGen:CA10579475
Duplication	NM_000059.4(BRCA2):c.857_860dup (p.Met287fs)	BRCA2	Pathogenic	13	32906470	32906471	G	GTCAA	reviewed by expert panel	ClinGen:CA10579476

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