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.3273C>G (p.Tyr1091Ter)	DICER1	Pathogenic	14	95570460	95570460	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586433
Duplication	NM_177438.3(DICER1):c.3175dup (p.Tyr1059fs)	DICER1	Pathogenic	14	95571501	95571502	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586434
Indel	NM_177438.3(DICER1):c.3135_3137delinsTGAACTCATG (p.Ser1046fs)	DICER1	Pathogenic	14	95571540	95571542	GAT	CATGAGTTCA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586435
Deletion	NM_177438.3(DICER1):c.2888_2889del (p.Pro963fs)	DICER1	Pathogenic	14	95572476	95572477	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586436
Indel	NM_177438.3(DICER1):c.2867_2869delinsAA (p.Pro956fs)	DICER1	Pathogenic	14	95572496	95572498	GTG	TT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586437
Deletion	NM_177438.3(DICER1):c.2863del (p.Thr955fs)	DICER1	Pathogenic	14	95572502	95572502	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586438
single nucleotide variant	NM_177438.3(DICER1):c.2749G>T (p.Glu917Ter)	DICER1	Pathogenic	14	95574000	95574000	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586439
single nucleotide variant	NM_177438.3(DICER1):c.2650+1G>T	DICER1	Pathogenic	14	95574216	95574216	C	A	reviewed by expert panel	ClinGen:CA10586440
Duplication	NM_177438.3(DICER1):c.2392dup (p.Thr798fs)	DICER1	Pathogenic	14	95574704	95574705	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586441,OMIM:606241.0004
single nucleotide variant	NM_177438.3(DICER1):c.2247C>A (p.Tyr749Ter)	DICER1	Pathogenic	14	95577663	95577663	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586442

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