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.9753del (p.Lys3251fs)	BRCA2	Pathogenic	13	32972403	32972403	AG	A	reviewed by expert panel	ClinGen:CA10575936
Deletion	NM_000059.4(BRCA2):c.3689_3690del (p.Ser1230fs)	BRCA2	Pathogenic	13	32912180	32912181	TTC	T	reviewed by expert panel	ClinGen:CA354139
Deletion	NM_000059.4(BRCA2):c.8419_8428del (p.Ser2807fs)	BRCA2	Pathogenic	13	32944623	32944632	ATCATCGCTTT	A	reviewed by expert panel	ClinGen:CA354140
Deletion	NM_000059.4(BRCA2):c.1329del (p.Asn444fs)	BRCA2	Pathogenic	13	32906944	32906944	AG	A	reviewed by expert panel	ClinGen:CA10576062
Deletion	NM_000059.4(BRCA2):c.3323del (p.Lys1108fs)	BRCA2	Pathogenic	13	32911812	32911812	CA	C	reviewed by expert panel	ClinGen:CA10576064
Deletion	NM_000059.4(BRCA2):c.4615_4616del (p.Leu1539fs)	BRCA2	Pathogenic	13	32913106	32913107	CTT	C	reviewed by expert panel	ClinGen:CA10576066
Deletion	NM_000059.4(BRCA2):c.4619_4623del (p.Asp1540fs)	BRCA2	Pathogenic	13	32913111	32913115	GACAAA	G	reviewed by expert panel	ClinGen:CA10576067
Duplication	NM_000059.4(BRCA2):c.5166dup (p.Thr1723fs)	BRCA2	Pathogenic	13	32913657	32913658	G	GT	reviewed by expert panel	ClinGen:CA10576068
Deletion	NM_000059.4(BRCA2):c.7575del (p.Ala2526fs)	BRCA2	Pathogenic	13	32930704	32930704	CA	C	reviewed by expert panel	ClinGen:CA10576071
Indel	NM_000059.4(BRCA2):c.8566_8567delinsC (p.Glu2856fs)	BRCA2	Pathogenic	13	32945171	32945172	GA	C	reviewed by expert panel	ClinGen:CA10576074

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