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.5504_5507del (p.Tyr1835fs)	DICER1	Pathogenic	14	95557560	95557563	GGGAT	G	criteria provided, multiple submitters, no conflicts	-
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.5479del (p.Leu1827fs)	DICER1	Pathogenic	14	95557588	95557588	AG	A	reviewed by expert panel	ClinGen:CA658656432
single nucleotide variant	NM_177438.3(DICER1):c.5477C>A (p.Ser1826Ter)	DICER1	Pathogenic	14	95557590	95557590	G	T	criteria provided, single submitter	OMIM:606241.0006
single nucleotide variant	NM_177438.3(DICER1):c.5465A>T (p.Asp1822Val)	DICER1	Likely pathogenic	14	95557602	95557602	T	A	reviewed by expert panel	ClinGen:CA10586400
single nucleotide variant	NM_177438.3(DICER1):c.5465A>G (p.Asp1822Gly)	DICER1	Likely pathogenic	14	95557602	95557602	T	C	reviewed by expert panel	ClinGen:CA390864594
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
Duplication	NM_177438.3(DICER1):c.5424_5432dup (p.Met1808_Asp1810dup)	DICER1	Pathogenic	14	95557634	95557635	A	AATATCCCCC	criteria provided, single submitter	ClinGen:CA645369607
single nucleotide variant	NM_177438.3(DICER1):c.5425G>A (p.Gly1809Arg)	DICER1	Pathogenic	14	95557642	95557642	C	T	reviewed by expert panel	-
Deletion	NM_177438.3(DICER1):c.5394del (p.Glu1799fs)	DICER1	Pathogenic	14	95557673	95557673	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586401