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.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.901C>T (p.Gln301Ter)	DICER1	Pathogenic	14	95592919	95592919	G	A	criteria provided, single submitter	ClinGen:CA390887420
Deletion	NM_177438.3(DICER1):c.878_881del (p.Arg293fs)	DICER1	Pathogenic	14	95592939	95592942	ATCTC	A	reviewed by expert panel	ClinGen:CA10586464
Deletion	NM_177438.3(DICER1):c.877del (p.Arg293fs)	DICER1	Pathogenic	14	95592943	95592943	CT	C	criteria provided, single submitter	ClinGen:CA645369583
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
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.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
single nucleotide variant	NM_177438.3(DICER1):c.559C>T (p.Arg187Ter)	DICER1	Pathogenic	14	95596409	95596409	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA350609