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
Deletion	NM_177438.3(DICER1):c.1400_1401del (p.Gln467fs)	DICER1	Pathogenic	14	95584067	95584068	CTT	C	criteria provided, single submitter	ClinGen:CA645369630
single nucleotide variant	NM_177438.3(DICER1):c.1356C>G (p.Tyr452Ter)	DICER1	Pathogenic	14	95590553	95590553	G	C	criteria provided, single submitter	ClinGen:CA390886148
Duplication	NM_177438.3(DICER1):c.1325dup (p.Leu442fs)	DICER1	Pathogenic	14	95590583	95590584	C	CA	criteria provided, single submitter	ClinGen:CA645369620
single nucleotide variant	NM_177438.3(DICER1):c.1246G>T (p.Glu416Ter)	DICER1	Pathogenic	14	95590663	95590663	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA390886520
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
Deletion	NM_177438.3(DICER1):c.1024del (p.Arg342fs)	DICER1	Pathogenic	14	95590885	95590885	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369625
Deletion	NM_177438.3(DICER1):c.948_961del (p.Trp316fs)	DICER1	Pathogenic	14	95590948	95590961	ACTTTATCTGCACAC	A	criteria provided, single submitter	ClinGen:CA645369626
Duplication	NM_177438.3(DICER1):c.937dup (p.Leu313fs)	DICER1	Pathogenic	14	95590971	95590972	A	AG	criteria provided, single submitter	ClinGen:CA645369582
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.1234del (p.Trp412fs)	DICER1	Pathogenic	14	95590675	95590675	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656454