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
Deletion	NM_177438.3(DICER1):c.1752+1del	DICER1	Pathogenic	14	95582789	95582789	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586452
Deletion	NM_177438.3(DICER1):c.1716del (p.Phe572fs)	DICER1	Pathogenic	14	95582826	95582826	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586453
Deletion	NM_177438.3(DICER1):c.1695_1696del (p.Thr566fs)	DICER1	Pathogenic	14	95582846	95582847	GTA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586454
Deletion	NM_177438.3(DICER1):c.1684_1685del (p.Met562fs)	DICER1	Pathogenic	14	95582857	95582858	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586455
single nucleotide variant	NM_177438.3(DICER1):c.1651G>T (p.Gly551Ter)	DICER1	Pathogenic	14	95582891	95582891	C	A	criteria provided, single submitter	ClinGen:CA10586456
single nucleotide variant	NM_177438.3(DICER1):c.1525C>T (p.Arg509Ter)	DICER1	Pathogenic	14	95583017	95583017	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586457
single nucleotide variant	NM_177438.3(DICER1):c.1408G>T (p.Glu470Ter)	DICER1	Pathogenic	14	95584060	95584060	C	A	reviewed by expert panel	ClinGen:CA10586458
single nucleotide variant	NM_177438.3(DICER1):c.1376+1G>T	DICER1	Pathogenic	14	95590532	95590532	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586459
Duplication	NM_177438.3(DICER1):c.1202dup (p.Tyr401Ter)	DICER1	Pathogenic	14	95590706	95590707	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586460
Indel	NM_177438.3(DICER1):c.1185_1187delinsC (p.Glu396fs)	DICER1	Pathogenic	14	95590722	95590724	TCA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586461

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