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.535del (p.Ala180fs)	DICER1	Pathogenic	14	95596433	95596433	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658270
single nucleotide variant	NM_177438.3(DICER1):c.489C>G (p.Tyr163Ter)	DICER1	Pathogenic	14	95596479	95596479	G	C	criteria provided, single submitter	ClinGen:CA349806
Duplication	NM_177438.3(DICER1):c.459dup (p.Val154fs)	DICER1	Pathogenic	14	95596508	95596509	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658271
single nucleotide variant	NM_177438.3(DICER1):c.307+1G>C	DICER1	Likely pathogenic	14	95598851	95598851	C	G	criteria provided, single submitter	-
Duplication	NM_177438.3(DICER1):c.282_283dup (p.Arg95fs)	DICER1	Pathogenic	14	95598875	95598876	C	CTT	criteria provided, single submitter	ClinGen:CA658658272
Deletion	NM_177438.3(DICER1):c.256del (p.Arg86fs)	DICER1	Pathogenic	14	95598903	95598903	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658273
single nucleotide variant	NM_177438.3(DICER1):c.238G>T (p.Glu80Ter)	DICER1	Likely pathogenic	14	95598921	95598921	C	A	reviewed by expert panel	-
single nucleotide variant	NM_177438.3(DICER1):c.100C>T (p.Gln34Ter)	DICER1	Pathogenic	14	95599696	95599696	G	A	criteria provided, single submitter	ClinGen:CA390890474
Deletion	NC_000014.9:g.(?_95090488)_(95133468_?)del	DICER1	Pathogenic	14	95556825	95599805	na	na	criteria provided, single submitter	-