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.4638C>A (p.Tyr1546Ter)	DICER1	Pathogenic	14	95562619	95562619	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA390867638
Duplication	NM_177438.3(DICER1):c.2245_2248dup (p.Pro750fs)	DICER1	Pathogenic	14	95577661	95577662	G	GGGTA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656439
Deletion	NM_177438.3(DICER1):c.1417del (p.Tyr473fs)	DICER1	Pathogenic	14	95584051	95584051	TA	T	criteria provided, single submitter	ClinGen:CA658656452
Deletion	NM_177438.3(DICER1):c.1694del (p.Asp565fs)	DICER1	Pathogenic	14	95582848	95582848	AT	A	criteria provided, single submitter	ClinGen:CA658656449
Deletion	NM_177438.3(DICER1):c.5479del (p.Leu1827fs)	DICER1	Pathogenic	14	95557588	95557588	AG	A	reviewed by expert panel	ClinGen:CA658656432
Duplication	NM_177438.3(DICER1):c.1029dup (p.Phe344fs)	DICER1	Pathogenic/Likely pathogenic	14	95590879	95590880	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656456
Deletion	NM_177438.3(DICER1):c.535del (p.Ala180fs)	DICER1	Pathogenic	14	95596433	95596433	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658270
Deletion	NM_177438.3(DICER1):c.1137del (p.Lys379fs)	DICER1	Pathogenic	14	95590772	95590772	GT	G	criteria provided, single submitter	ClinGen:CA658656455
single nucleotide variant	NM_177438.3(DICER1):c.823G>T (p.Glu275Ter)	DICER1	Pathogenic	14	95592997	95592997	C	A	criteria provided, single submitter	ClinGen:CA390887630
single nucleotide variant	NM_177438.3(DICER1):c.901C>T (p.Gln301Ter)	DICER1	Pathogenic	14	95592919	95592919	G	A	criteria provided, single submitter	ClinGen:CA390887420

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