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
Duplication	NM_177438.3(DICER1):c.459dup (p.Val154fs)	DICER1	Pathogenic	14	95596508	95596509	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658271
Deletion	NM_177438.3(DICER1):c.256del (p.Arg86fs)	DICER1	Pathogenic	14	95598903	95598903	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658273
Duplication	NM_177438.3(DICER1):c.282_283dup (p.Arg95fs)	DICER1	Pathogenic	14	95598875	95598876	C	CTT	criteria provided, single submitter	ClinGen:CA658658272
Deletion	NM_177438.3(DICER1):c.1726del (p.Thr578fs)	DICER1	Pathogenic	14	95582816	95582816	AG	A	criteria provided, single submitter	ClinGen:CA658656448
single nucleotide variant	NM_177438.3(DICER1):c.5103C>G (p.Tyr1701Ter)	DICER1	Pathogenic	14	95560486	95560486	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA390865441
single nucleotide variant	NM_177438.3(DICER1):c.4999G>T (p.Glu1667Ter)	DICER1	Pathogenic	14	95562258	95562258	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA390866134
Indel	NM_177438.3(DICER1):c.2955delinsTT (p.Gln985fs)	DICER1	Pathogenic	14	95572410	95572410	C	AA	criteria provided, single submitter	ClinGen:CA658798254
Deletion	NM_177438.3(DICER1):c.4212del (p.Asp1405fs)	DICER1	Pathogenic	14	95563045	95563045	CT	C	criteria provided, single submitter	ClinGen:CA658798249
single nucleotide variant	NM_177438.3(DICER1):c.100C>T (p.Gln34Ter)	DICER1	Pathogenic	14	95599696	95599696	G	A	criteria provided, single submitter	ClinGen:CA390890474
Duplication	NM_177438.3(DICER1):c.757dup (p.Ile253fs)	DICER1	Pathogenic	14	95593062	95593063	A	AT	criteria provided, single submitter	ClinGen:CA658798260

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