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.1246G>T (p.Glu416Ter)	DICER1	Pathogenic	14	95590663	95590663	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA390886520
Deletion	NM_177438.3(DICER1):c.1280_1283del (p.Lys427fs)	DICER1	Pathogenic	14	95590626	95590629	CTCTT	C	criteria provided, single submitter	-
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.1356C>G (p.Tyr452Ter)	DICER1	Pathogenic	14	95590553	95590553	G	C	criteria provided, single submitter	ClinGen:CA390886148
single nucleotide variant	NM_177438.3(DICER1):c.1376+1G>A	DICER1	Pathogenic/Likely pathogenic	14	95590532	95590532	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_177438.3(DICER1):c.1376+1G>T	DICER1	Pathogenic	14	95590532	95590532	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586459
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.1408G>T (p.Glu470Ter)	DICER1	Pathogenic	14	95584060	95584060	C	A	reviewed by expert panel	ClinGen:CA10586458
Deletion	NM_177438.3(DICER1):c.1417del (p.Tyr473fs)	DICER1	Pathogenic	14	95584051	95584051	TA	T	criteria provided, single submitter	ClinGen:CA658656452
Duplication	NM_177438.3(DICER1):c.1462dup (p.Gln488fs)	DICER1	Pathogenic	14	95584005	95584006	T	TG	criteria provided, single submitter	ClinGen:CA645369631