DICER1症候群 - MGenReviews

DICER1症候群

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_177438.3(DICER1):c.2350G>T (p.Glu784Ter)	DICER1	Pathogenic	14	95574747	95574747	C	A	criteria provided, single submitter	ClinGen:CA390882234
single nucleotide variant	NM_177438.3(DICER1):c.2256+1G>A	DICER1	Pathogenic	14	95577653	95577653	C	T	criteria provided, single submitter	ClinGen:CA390882460
Duplication	NM_177438.3(DICER1):c.2181_2187dup (p.Asp730delinsPheAlaTer)	DICER1	Pathogenic	14	95577722	95577723	C	CATGCAAA	criteria provided, single submitter	ClinGen:CA645369632
single nucleotide variant	NM_177438.3(DICER1):c.2041-2A>G	DICER1	Likely pathogenic	14	95578586	95578586	T	C	criteria provided, single submitter	ClinGen:CA390883150
single nucleotide variant	NM_177438.3(DICER1):c.2040+1G>A	DICER1	Pathogenic	14	95579428	95579428	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA390883156
single nucleotide variant	NM_177438.3(DICER1):c.1907+1G>A	DICER1	Pathogenic	14	95582003	95582003	C	T	reviewed by expert panel	ClinGen:CA390883876
Deletion	NM_177438.3(DICER1):c.1839del (p.Tyr614fs)	DICER1	Pathogenic	14	95582072	95582072	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369629
Deletion	NM_177438.3(DICER1):c.1749_1753del (p.Glu583fs)	DICER1	Pathogenic	14	95582790	95582794	CCTTTT	C	criteria provided, single submitter	ClinGen:CA645369621
Duplication	NM_177438.3(DICER1):c.1732dup (p.Thr578fs)	DICER1	Pathogenic	14	95582809	95582810	G	GT	criteria provided, single submitter	ClinGen:CA645369623
Duplication	NM_177438.3(DICER1):c.1462dup (p.Gln488fs)	DICER1	Pathogenic	14	95584005	95584006	T	TG	criteria provided, single submitter	ClinGen:CA645369631

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