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
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.745C>T (p.Gln249Ter)	DICER1	Pathogenic	14	95593075	95593075	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586465
Duplication	NM_177438.3(DICER1):c.757dup (p.Ile253fs)	DICER1	Pathogenic	14	95593062	95593063	A	AT	criteria provided, single submitter	ClinGen:CA658798260
single nucleotide variant	NM_177438.3(DICER1):c.823G>T (p.Glu275Ter)	DICER1	Pathogenic	14	95592997	95592997	C	A	criteria provided, single submitter	ClinGen:CA390887630
Deletion	NM_177438.3(DICER1):c.877del (p.Arg293fs)	DICER1	Pathogenic	14	95592943	95592943	CT	C	criteria provided, single submitter	ClinGen:CA645369583
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.901C>T (p.Gln301Ter)	DICER1	Pathogenic	14	95592919	95592919	G	A	criteria provided, single submitter	ClinGen:CA390887420
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	-
Duplication	NM_177438.3(DICER1):c.937dup (p.Leu313fs)	DICER1	Pathogenic	14	95590971	95590972	A	AG	criteria provided, single submitter	ClinGen:CA645369582
single nucleotide variant	NM_177438.3(DICER1):c.947G>A (p.Trp316Ter)	DICER1	Pathogenic	14	95590962	95590962	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA390887315