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
Duplication	NM_177438.3(DICER1):c.4071dup (p.Arg1358fs)	DICER1	Pathogenic	14	95566251	95566252	G	GA	criteria provided, single submitter	ClinGen:CA645369624
Deletion	NM_177438.3(DICER1):c.4044del (p.Ser1348fs)	DICER1	Pathogenic	14	95569689	95569689	TG	T	criteria provided, single submitter	ClinGen:CA645369609
single nucleotide variant	NM_177438.3(DICER1):c.3726C>G (p.Tyr1242Ter)	DICER1	Pathogenic	14	95570007	95570007	G	C	criteria provided, single submitter	ClinGen:CA390874237
single nucleotide variant	NM_177438.3(DICER1):c.3675C>G (p.Tyr1225Ter)	DICER1	Pathogenic	14	95570058	95570058	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA390874404
Indel	NM_177438.3(DICER1):c.3516_3525delinsA (p.Thr1173_Ile1175del)	DICER1	Pathogenic	14	95570208	95570217	AATTGCTGTA	T	criteria provided, single submitter	ClinGen:CA645369618
Duplication	NM_177438.3(DICER1):c.3345dup (p.Ala1116fs)	DICER1	Pathogenic	14	95570387	95570388	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369619
single nucleotide variant	NM_177438.3(DICER1):c.3073G>T (p.Glu1025Ter)	DICER1	Pathogenic	14	95572035	95572035	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA390878017
single nucleotide variant	NM_177438.3(DICER1):c.3019C>T (p.Gln1007Ter)	DICER1	Pathogenic	14	95572089	95572089	G	A	reviewed by expert panel	ClinGen:CA390878423
single nucleotide variant	NM_177438.3(DICER1):c.2988-1G>T	DICER1	Pathogenic	14	95572121	95572121	C	A	reviewed by expert panel	ClinGen:CA390878663
Deletion	NM_177438.3(DICER1):c.2399del (p.Arg800fs)	DICER1	Pathogenic	14	95574698	95574698	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369627