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

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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.5103C>A (p.Tyr1701Ter)	DICER1	Pathogenic/Likely pathogenic	14	95560486	95560486	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576126
single nucleotide variant	NM_177438.3(DICER1):c.4754C>G (p.Ser1585Ter)	DICER1	Pathogenic	14	95562503	95562503	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576127
Duplication	NM_177438.3(DICER1):c.4633dup (p.Ser1545fs)	DICER1	Pathogenic/Likely pathogenic	14	95562623	95562624	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576128
Deletion	NM_177438.3(DICER1):c.4407_4410del (p.Ser1470fs)	DICER1	Pathogenic	14	95562847	95562850	GAGAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576129
single nucleotide variant	NM_177438.3(DICER1):c.4050+1G>A	DICER1	Pathogenic/Likely pathogenic	14	95569682	95569682	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576130
single nucleotide variant	NM_177438.3(DICER1):c.1498A>T (p.Lys500Ter)	DICER1	Pathogenic	14	95583970	95583970	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576131
Deletion	NM_177438.3(DICER1):c.5315_5316del (p.Phe1772fs)	DICER1	Pathogenic	14	95560273	95560274	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583185
Duplication	NM_177438.3(DICER1):c.4004dup (p.Tyr1335Ter)	DICER1	Pathogenic	14	95569728	95569729	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583199
single nucleotide variant	NM_177438.3(DICER1):c.5465A>T (p.Asp1822Val)	DICER1	Likely pathogenic	14	95557602	95557602	T	A	reviewed by expert panel	ClinGen:CA10586400
Deletion	NM_177438.3(DICER1):c.5394del (p.Glu1799fs)	DICER1	Pathogenic	14	95557673	95557673	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586401

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