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.5016C>G (p.Tyr1672Ter)	BRCA2	Pathogenic	13	32913508	32913508	C	G	reviewed by expert panel	ClinGen:CA348640
single nucleotide variant	NM_000059.4(BRCA2):c.6254T>G (p.Leu2085Ter)	BRCA2	Pathogenic	13	32914746	32914746	T	G	reviewed by expert panel	ClinGen:CA348847
Duplication	NM_000059.4(BRCA2):c.6998dup (p.Pro2334fs)	BRCA2	Pathogenic	13	32921023	32921024	G	GT	reviewed by expert panel	ClinGen:CA348970
Indel	NM_000059.4(BRCA2):c.8902_8913delinsTCCC (p.Thr2968fs)	BRCA2	Pathogenic	13	32953601	32953612	ACCGTGTGGAAG	TCCC	reviewed by expert panel	ClinGen:CA348803
single nucleotide variant	NM_000059.4(BRCA2):c.8987T>A (p.Leu2996Ter)	BRCA2	Pathogenic	13	32953920	32953920	T	A	reviewed by expert panel	ClinGen:CA348592
single nucleotide variant	NM_000059.4(BRCA2):c.9027T>G (p.Tyr3009Ter)	BRCA2	Pathogenic	13	32953960	32953960	T	G	reviewed by expert panel	ClinGen:CA349539
Deletion	NM_000059.4(BRCA2):c.4963del (p.Tyr1655fs)	BRCA2	Pathogenic	13	32913454	32913454	GT	G	reviewed by expert panel	ClinGen:CA10575849
Deletion	NM_005612.5(REST):c.831_832del (p.Cys278fs)	REST	Pathogenic	4	57777635	57777636	CAT	C	criteria provided, single submitter	ClinGen:CA351626,OMIM:600571.0001
single nucleotide variant	NM_024426.6(WT1):c.1265G>T (p.Gly422Val)	WT1	Likely pathogenic	11	32414301	32414301	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA351790
single nucleotide variant	NM_000059.4(BRCA2):c.67+1G>C	BRCA2	Pathogenic/Likely pathogenic	13	32890665	32890665	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575902

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