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.888T>A (p.Tyr296Ter)	BRCA2	Pathogenic	13	32906503	32906503	T	A	reviewed by expert panel	ClinGen:CA10579477
Deletion	NM_000059.4(BRCA2):c.1134del (p.Ser378fs)	BRCA2	Pathogenic	13	32906749	32906749	GT	G	reviewed by expert panel	ClinGen:CA10579485
Deletion	NM_000059.4(BRCA2):c.1689del (p.Trp563fs)	BRCA2	Pathogenic	13	32907303	32907303	TG	T	reviewed by expert panel	ClinGen:CA10579502
single nucleotide variant	NM_000059.4(BRCA2):c.1756A>T (p.Lys586Ter)	BRCA2	Pathogenic	13	32907371	32907371	A	T	reviewed by expert panel	ClinGen:CA10579503
single nucleotide variant	NM_000059.4(BRCA2):c.1909+2T>A	BRCA2	Likely pathogenic	13	32907526	32907526	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579514
Deletion	NM_000059.4(BRCA2):c.1943del (p.Ser648fs)	BRCA2	Pathogenic	13	32910435	32910435	TC	T	reviewed by expert panel	ClinGen:CA10579517
single nucleotide variant	NM_000059.4(BRCA2):c.2151T>A (p.Cys717Ter)	BRCA2	Pathogenic	13	32910643	32910643	T	A	reviewed by expert panel	ClinGen:CA10579525
single nucleotide variant	NM_000059.4(BRCA2):c.2231C>A (p.Ser744Ter)	BRCA2	Pathogenic	13	32910723	32910723	C	A	reviewed by expert panel	ClinGen:CA10579530
Deletion	NM_000059.4(BRCA2):c.2256del (p.Gln754fs)	BRCA2	Pathogenic	13	32910748	32910748	AC	A	reviewed by expert panel	ClinGen:CA10579531
Deletion	NM_000059.4(BRCA2):c.2501del (p.Leu834fs)	BRCA2	Pathogenic	13	32910992	32910992	GT	G	reviewed by expert panel	ClinGen:CA10579537

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