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.1498A>T (p.Lys500Ter)	DICER1	Pathogenic	14	95583970	95583970	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576131
single nucleotide variant	NM_177438.3(DICER1):c.1501C>T (p.Gln501Ter)	DICER1	Pathogenic	14	95583967	95583967	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_177438.3(DICER1):c.1507G>T (p.Glu503Ter)	DICER1	Pathogenic	14	95583961	95583961	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA212571,OMIM:606241.0002
single nucleotide variant	NM_177438.3(DICER1):c.1510-1G>A	DICER1	Likely pathogenic	14	95583033	95583033	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_177438.3(DICER1):c.1525C>T (p.Arg509Ter)	DICER1	Pathogenic	14	95583017	95583017	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586457
single nucleotide variant	NM_177438.3(DICER1):c.1630C>T (p.Arg544Ter)	DICER1	Pathogenic	14	95582912	95582912	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA212583,OMIM:606241.0005
single nucleotide variant	NM_177438.3(DICER1):c.1651G>T (p.Gly551Ter)	DICER1	Pathogenic	14	95582891	95582891	C	A	criteria provided, single submitter	ClinGen:CA10586456
Deletion	NM_177438.3(DICER1):c.1684_1685del (p.Met562fs)	DICER1	Pathogenic	14	95582857	95582858	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586455
Deletion	NM_177438.3(DICER1):c.1694del (p.Asp565fs)	DICER1	Pathogenic	14	95582848	95582848	AT	A	criteria provided, single submitter	ClinGen:CA658656449
Deletion	NM_177438.3(DICER1):c.1695_1696del (p.Thr566fs)	DICER1	Pathogenic	14	95582846	95582847	GTA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586454