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.5308del (p.Ser1770fs)	BRCA2	Pathogenic	13	32913799	32913799	AT	A	reviewed by expert panel	ClinGen:CA10579652
Deletion	NM_000059.4(BRCA2):c.5334_5340del (p.Asn1778fs)	BRCA2	Pathogenic	13	32913823	32913829	AGAATGTT	A	reviewed by expert panel	ClinGen:CA10579653
Deletion	NM_000059.4(BRCA2):c.5357del (p.Ser1786fs)	BRCA2	Pathogenic	13	32913849	32913849	AG	A	reviewed by expert panel	ClinGen:CA10579654
Deletion	NM_000059.4(BRCA2):c.5630del (p.Asn1877fs)	BRCA2	Pathogenic	13	32914119	32914119	GA	G	reviewed by expert panel	ClinGen:CA10579658
Deletion	NM_000059.4(BRCA2):c.5669_5673del (p.Met1890fs)	BRCA2	Pathogenic	13	32914160	32914164	TATGGC	T	reviewed by expert panel	ClinGen:CA10579660
single nucleotide variant	NM_000059.4(BRCA2):c.5699C>G (p.Ser1900Ter)	BRCA2	Pathogenic	13	32914191	32914191	C	G	reviewed by expert panel	ClinGen:CA10579664
Deletion	NM_000059.4(BRCA2):c.6039del (p.Val2014fs)	BRCA2	Pathogenic	13	32914529	32914529	CA	C	reviewed by expert panel	ClinGen:CA10579677
Deletion	NM_000059.4(BRCA2):c.6267_6274del (p.Glu2089fs)	BRCA2	Pathogenic	13	32914759	32914766	AGCATAGTC	A	reviewed by expert panel	ClinGen:CA10579686
Duplication	NM_000059.4(BRCA2):c.6332dup (p.Arg2112fs)	BRCA2	Pathogenic	13	32914822	32914823	T	TA	reviewed by expert panel	ClinGen:CA10579689
single nucleotide variant	NM_000059.4(BRCA2):c.6351T>A (p.Cys2117Ter)	BRCA2	Pathogenic	13	32914843	32914843	T	A	reviewed by expert panel	ClinGen:CA10579691

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