DICER1症候群 - MGenReviews

DICER1症候群

腫瘍性疾患

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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.5365-1G>A	DICER1	Pathogenic/Likely pathogenic	14	95557703	95557703	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_177438.3(DICER1):c.3957dup (p.Asp1320fs)	DICER1	Pathogenic/Likely pathogenic	14	95569775	95569776	C	CG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_177438.3(DICER1):c.904-1G>C	DICER1	Pathogenic/Likely pathogenic	14	95591006	95591006	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_177438.3(DICER1):c.1376+1G>A	DICER1	Pathogenic/Likely pathogenic	14	95590532	95590532	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_177438.3(DICER1):c.2987+1G>A	DICER1	Pathogenic/Likely pathogenic	14	95572377	95572377	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA390878746
Duplication	NM_177438.3(DICER1):c.1029dup (p.Phe344fs)	DICER1	Pathogenic/Likely pathogenic	14	95590879	95590880	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656456
single nucleotide variant	NM_177438.3(DICER1):c.1174C>T (p.Arg392Ter)	DICER1	Pathogenic/Likely pathogenic	14	95590735	95590735	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA390886799
single nucleotide variant	NM_177438.3(DICER1):c.4140G>A (p.Trp1380Ter)	DICER1	Pathogenic/Likely pathogenic	14	95566183	95566183	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA390871967
single nucleotide variant	NM_177438.3(DICER1):c.4206+1G>T	DICER1	Pathogenic/Likely pathogenic	14	95566116	95566116	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA390871673
Duplication	NM_177438.3(DICER1):c.4458dup (p.Ser1487fs)	DICER1	Pathogenic/Likely pathogenic	14	95562798	95562799	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369616