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.2437-2A>G	DICER1	Pathogenic	14	95574432	95574432	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614673
single nucleotide variant	NM_177438.3(DICER1):c.5465A>G (p.Asp1822Gly)	DICER1	Likely pathogenic	14	95557602	95557602	T	C	reviewed by expert panel	ClinGen:CA390864594
Duplication	NM_177438.3(DICER1):c.5424_5432dup (p.Met1808_Asp1810dup)	DICER1	Pathogenic	14	95557634	95557635	A	AATATCCCCC	criteria provided, single submitter	ClinGen:CA645369607
single nucleotide variant	NM_177438.3(DICER1):c.5364+1G>A	DICER1	Likely pathogenic	14	95560224	95560224	C	T	criteria provided, single submitter	ClinGen:CA390864842
Deletion	NM_177438.3(DICER1):c.5235del (p.Phe1745fs)	DICER1	Pathogenic	14	95560354	95560354	CA	C	criteria provided, single submitter	ClinGen:CA645369606
Deletion	NM_177438.3(DICER1):c.4984del (p.Ile1663fs)	DICER1	Pathogenic	14	95562273	95562273	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369628
Deletion	NM_177438.3(DICER1):c.4923_4926del (p.Gly1640_Cys1641insTer)	DICER1	Pathogenic	14	95562331	95562334	TCAAA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369608
single nucleotide variant	NM_177438.3(DICER1):c.4853C>A (p.Ser1618Ter)	DICER1	Pathogenic	14	95562404	95562404	G	T	criteria provided, single submitter	ClinGen:CA390866734
single nucleotide variant	NM_177438.3(DICER1):c.4812C>A (p.Cys1604Ter)	DICER1	Pathogenic	14	95562445	95562445	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA390867027
Duplication	NM_177438.3(DICER1):c.4657dup (p.Cys1553fs)	DICER1	Pathogenic	14	95562599	95562600	C	CA	criteria provided, single submitter	ClinGen:CA645369610