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.4654C>T (p.Gln1552Ter)	DICER1	Pathogenic/Likely pathogenic	14	95562603	95562603	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA390867598
Duplication	NM_177438.3(DICER1):c.4637dup (p.Tyr1546Ter)	DICER1	Pathogenic	14	95562619	95562620	G	GT	criteria provided, single submitter	ClinGen:CA645369611
Deletion	NM_177438.3(DICER1):c.4555del (p.Glu1519fs)	DICER1	Pathogenic	14	95562702	95562702	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369615
single nucleotide variant	NM_177438.3(DICER1):c.4533T>A (p.Tyr1511Ter)	DICER1	Pathogenic	14	95562724	95562724	A	T	criteria provided, single submitter	ClinGen:CA390867918
Duplication	NM_177438.3(DICER1):c.4458dup (p.Ser1487fs)	DICER1	Pathogenic/Likely pathogenic	14	95562798	95562799	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369616
Deletion	NM_177438.3(DICER1):c.4285del (p.Trp1429fs)	DICER1	Pathogenic	14	95562972	95562972	CA	C	criteria provided, single submitter	ClinGen:CA645369613
Duplication	NM_177438.3(DICER1):c.4264dup (p.Glu1422fs)	DICER1	Pathogenic	14	95562992	95562993	T	TC	criteria provided, single submitter	ClinGen:CA645369614
single nucleotide variant	NM_177438.3(DICER1):c.4206+1G>T	DICER1	Pathogenic/Likely pathogenic	14	95566116	95566116	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA390871673
single nucleotide variant	NM_177438.3(DICER1):c.4140G>A (p.Trp1380Ter)	DICER1	Pathogenic/Likely pathogenic	14	95566183	95566183	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA390871967
Duplication	NM_177438.3(DICER1):c.4085dup (p.Lys1363fs)	DICER1	Pathogenic	14	95566237	95566238	C	CT	criteria provided, single submitter	ClinGen:CA645369622