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.4748T>G (p.Leu1583Arg)	DICER1	Likely pathogenic	14	95562509	95562509	A	C	reviewed by expert panel	ClinGen:CA212568,UniProtKB:Q9UPY3#VAR_063150,OMIM:606241.0001
single nucleotide variant	NM_177438.3(DICER1):c.2457C>G (p.Tyr819Ter)	DICER1	Likely pathogenic	14	95574410	95574410	G	C	criteria provided, single submitter	OMIM:606241.0008
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.5364+1G>A	DICER1	Likely pathogenic	14	95560224	95560224	C	T	criteria provided, single submitter	ClinGen:CA390864842
single nucleotide variant	NM_177438.3(DICER1):c.2041-2A>G	DICER1	Likely pathogenic	14	95578586	95578586	T	C	criteria provided, single submitter	ClinGen:CA390883150
single nucleotide variant	NM_177438.3(DICER1):c.5096-12G>A	DICER1	Likely pathogenic	14	95560505	95560505	C	T	reviewed by expert panel	-
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.3682C>T (p.Gln1228Ter)	DICER1	Likely pathogenic	14	95570051	95570051	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_177438.3(DICER1):c.238G>T (p.Glu80Ter)	DICER1	Likely pathogenic	14	95598921	95598921	C	A	reviewed by expert panel	-