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
Indel	NM_000059.4(BRCA2):c.9195_9196delinsAT (p.Phe3065_Gln3066delinsLeuTer)	BRCA2	Pathogenic	13	32954221	32954222	TC	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579815
Deletion	NM_000059.4(BRCA2):c.9233del (p.Val3078fs)	BRCA2	Pathogenic	13	32954259	32954259	GT	G	reviewed by expert panel	ClinGen:CA10579820
Deletion	NM_000059.4(BRCA2):c.9278del (p.Leu3093fs)	BRCA2	Pathogenic	13	32968845	32968845	AT	A	reviewed by expert panel	ClinGen:CA10579823
single nucleotide variant	NM_000059.4(BRCA2):c.9356T>A (p.Leu3119Ter)	BRCA2	Pathogenic	13	32968925	32968925	T	A	reviewed by expert panel	ClinGen:CA10579829
Deletion	NM_000059.4(BRCA2):c.9409_9412del (p.Thr3137fs)	BRCA2	Pathogenic	13	32968975	32968978	TCTTA	T	reviewed by expert panel	ClinGen:CA10579831
Duplication	NM_000059.4(BRCA2):c.9413dup (p.Leu3138fs)	BRCA2	Pathogenic	13	32968979	32968980	C	CT	reviewed by expert panel	ClinGen:CA10579832
Insertion	NM_000059.4(BRCA2):c.9717_9718insAT (p.Val3240fs)	BRCA2	Pathogenic	13	32972366	32972367	C	CTA	criteria provided, single submitter	ClinGen:CA10579843
Deletion	NM_000059.4(BRCA2):c.160_161del (p.Asn54fs)	BRCA2	Pathogenic	13	32893303	32893304	TAA	T	reviewed by expert panel	ClinGen:CA10581584
single nucleotide variant	NM_000059.4(BRCA2):c.682-2A>G	BRCA2	Pathogenic	13	32905054	32905054	A	G	reviewed by expert panel	ClinGen:CA10581585
Deletion	NM_000059.4(BRCA2):c.1906del (p.Ser636fs)	BRCA2	Pathogenic	13	32907520	32907520	AT	A	reviewed by expert panel	ClinGen:CA10581586

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