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.1747del (p.Glu583fs)	DICER1	Pathogenic	14	95582795	95582795	TC	T	criteria provided, single submitter	ClinGen:CA16614258
single nucleotide variant	NM_177438.3(DICER1):c.5441C>T (p.Ser1814Leu)	DICER1	Pathogenic	14	95557626	95557626	G	A	reviewed by expert panel	ClinGen:CA16614268
Deletion	NM_177438.3(DICER1):c.2507_2508del (p.Phe836fs)	DICER1	Pathogenic	14	95574359	95574360	TGA	T	criteria provided, single submitter	ClinGen:CA16614364
single nucleotide variant	NM_177438.3(DICER1):c.3007C>T (p.Arg1003Ter)	DICER1	Pathogenic	14	95572101	95572101	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614516
single nucleotide variant	NM_177438.3(DICER1):c.2233C>T (p.Arg745Ter)	DICER1	Pathogenic	14	95577677	95577677	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614533
Deletion	NM_177438.3(DICER1):c.1706_1710del (p.Ile569fs)	DICER1	Pathogenic	14	95582832	95582836	TTTTTA	T	criteria provided, single submitter	ClinGen:CA16614550
single nucleotide variant	NM_177438.3(DICER1):c.5494C>T (p.Gln1832Ter)	DICER1	Pathogenic	14	95557573	95557573	G	A	criteria provided, single submitter	ClinGen:CA16614588
Deletion	NM_177438.3(DICER1):c.4130del (p.Pro1377fs)	DICER1	Pathogenic	14	95566193	95566193	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614632
single nucleotide variant	NM_177438.3(DICER1):c.3349G>T (p.Glu1117Ter)	DICER1	Pathogenic	14	95570384	95570384	C	A	criteria provided, single submitter	ClinGen:CA16614643
Deletion	NM_177438.3(DICER1):c.2953del (p.Gln985fs)	DICER1	Pathogenic	14	95572412	95572412	TG	T	criteria provided, single submitter	ClinGen:CA16614657