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.3636_3639del (p.Asn1212fs)	BRCA2	Pathogenic	13	32912126	32912129	AAATG	A	reviewed by expert panel	ClinGen:CA10579583
single nucleotide variant	NM_000059.4(BRCA2):c.4003G>T (p.Glu1335Ter)	BRCA2	Pathogenic	13	32912495	32912495	G	T	reviewed by expert panel	ClinGen:CA6940739
Insertion	NM_000059.4(BRCA2):c.4092_4093insAA (p.Cys1365fs)	BRCA2	Pathogenic	13	32912583	32912584	T	TAA	reviewed by expert panel	ClinGen:CA10579601
Duplication	NM_000059.4(BRCA2):c.4177dup (p.Ala1393fs)	BRCA2	Pathogenic	13	32912668	32912669	T	TG	reviewed by expert panel	ClinGen:CA10579602
Deletion	NM_000059.4(BRCA2):c.4245del (p.Glu1415fs)	BRCA2	Pathogenic	13	32912737	32912737	AG	A	reviewed by expert panel	ClinGen:CA6940762
Deletion	NM_000059.4(BRCA2):c.4383_4384del (p.Leu1462fs)	BRCA2	Pathogenic	13	32912875	32912876	CCT	C	reviewed by expert panel	ClinGen:CA10579614
Deletion	NM_000059.4(BRCA2):c.4447del (p.Thr1483fs)	BRCA2	Pathogenic	13	32912937	32912937	GA	G	reviewed by expert panel	ClinGen:CA10579616
Deletion	NM_000059.4(BRCA2):c.4460_4461del (p.Lys1487fs)	BRCA2	Pathogenic	13	32912951	32912952	TAA	T	reviewed by expert panel	ClinGen:CA10579618
Deletion	NM_000059.4(BRCA2):c.4633del (p.Leu1545fs)	BRCA2	Pathogenic	13	32913124	32913124	AC	A	reviewed by expert panel	ClinGen:CA10579626
Deletion	NM_000059.4(BRCA2):c.5076del (p.Trp1692fs)	BRCA2	Pathogenic	13	32913567	32913567	TG	T	reviewed by expert panel	ClinGen:CA10579645

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