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.1144G>T (p.Glu382Ter)	DICER1	Pathogenic	14	95590765	95590765	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586462
single nucleotide variant	NM_177438.3(DICER1):c.996C>A (p.Tyr332Ter)	DICER1	Pathogenic	14	95590913	95590913	G	T	criteria provided, single submitter	ClinGen:CA10586463
Deletion	NM_177438.3(DICER1):c.878_881del (p.Arg293fs)	DICER1	Pathogenic	14	95592939	95592942	ATCTC	A	reviewed by expert panel	ClinGen:CA10586464
single nucleotide variant	NM_177438.3(DICER1):c.745C>T (p.Gln249Ter)	DICER1	Pathogenic	14	95593075	95593075	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586465
Indel	NM_177438.3(DICER1):c.735-1_741delinsA	DICER1	Pathogenic/Likely pathogenic	14	95593079	95593086	AGTATACC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586466
single nucleotide variant	NM_177438.3(DICER1):c.629T>G (p.Leu210Ter)	DICER1	Pathogenic	14	95595914	95595914	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586467
Indel	NM_177438.3(DICER1):c.2243_2244delinsAA (p.Cys748Ter)	DICER1	Pathogenic	14	95577666	95577667	GC	TT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586468
Insertion	NM_177438.3(DICER1):c.2243_2244insACTA (p.Cys748Ter)	DICER1	Pathogenic	14	95577666	95577667	G	GTAGT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586469
single nucleotide variant	NM_177438.3(DICER1):c.2651-2A>G	DICER1	Pathogenic	14	95574100	95574100	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614229
Deletion	NM_177438.3(DICER1):c.1767del (p.Lys589fs)	DICER1	Pathogenic	14	95582144	95582144	AC	A	criteria provided, single submitter	ClinGen:CA16614256

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