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.7673del (p.Glu2558fs)	BRCA2	Pathogenic	13	32931934	32931934	GA	G	reviewed by expert panel	ClinGen:CA10583134
Deletion	NM_000059.4(BRCA2):c.8223del (p.Asn2742fs)	BRCA2	Pathogenic	13	32937562	32937562	AG	A	reviewed by expert panel	ClinGen:CA10583139
Deletion	NM_000059.4(BRCA2):c.8585_8586del (p.Leu2862fs)	BRCA2	Pathogenic	13	32945190	32945191	CTA	C	reviewed by expert panel	ClinGen:CA10583144
Deletion	NM_000059.4(BRCA2):c.9270del (p.Phe3090fs)	BRCA2	Pathogenic	13	32968839	32968839	TC	T	reviewed by expert panel	ClinGen:CA10583152
Deletion	NM_000059.4(BRCA2):c.2045del (p.Ile682fs)	BRCA2	Pathogenic	13	32910537	32910537	AT	A	reviewed by expert panel	ClinGen:CA10584440
Deletion	NM_000059.4(BRCA2):c.2677del (p.Gln893fs)	BRCA2	Pathogenic	13	32911168	32911168	TC	T	reviewed by expert panel	ClinGen:CA10584441
Deletion	NM_000059.4(BRCA2):c.4594_4598del (p.Val1532fs)	BRCA2	Pathogenic	13	32913084	32913088	AAAGTT	A	reviewed by expert panel	ClinGen:CA10584446
Deletion	NM_000059.4(BRCA2):c.6762del (p.Phe2254fs)	BRCA2	Pathogenic	13	32915250	32915250	CT	C	reviewed by expert panel	ClinGen:CA10584450
single nucleotide variant	NM_000059.4(BRCA2):c.7617+1G>C	BRCA2	Pathogenic	13	32930747	32930747	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584451
Indel	NM_000059.3(BRCA2):c.81_83delinsTAAGACT (p.Ser28fs)	BRCA2	Pathogenic	13	32893227	32893229	AAG	TAAGACT	reviewed by expert panel	ClinGen:CA10585890

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