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.1185_1187delinsC (p.Glu396fs)	DICER1	Pathogenic	14	95590722	95590724	TCA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586461
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.1144G>T (p.Glu382Ter)	DICER1	Pathogenic	14	95590765	95590765	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586462
Deletion	NM_177438.3(DICER1):c.1137del (p.Lys379fs)	DICER1	Pathogenic	14	95590772	95590772	GT	G	criteria provided, single submitter	ClinGen:CA658656455
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
Deletion	NM_177438.3(DICER1):c.1024del (p.Arg342fs)	DICER1	Pathogenic	14	95590885	95590885	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369625
single nucleotide variant	NM_177438.3(DICER1):c.996C>A (p.Tyr332Ter)	DICER1	Pathogenic	14	95590913	95590913	G	T	criteria provided, single submitter	ClinGen:CA10586463
Deletion	NM_177438.3(DICER1):c.948_961del (p.Trp316fs)	DICER1	Pathogenic	14	95590948	95590961	ACTTTATCTGCACAC	A	criteria provided, single submitter	ClinGen:CA645369626
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
Duplication	NM_177438.3(DICER1):c.937dup (p.Leu313fs)	DICER1	Pathogenic	14	95590971	95590972	A	AG	criteria provided, single submitter	ClinGen:CA645369582