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.4654C>T (p.Gln1552Ter)	DICER1	Pathogenic/Likely pathogenic	14	95562603	95562603	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA390867598
Duplication	NM_177438.3(DICER1):c.4657dup (p.Cys1553fs)	DICER1	Pathogenic	14	95562599	95562600	C	CA	criteria provided, single submitter	ClinGen:CA645369610
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.4754C>G (p.Ser1585Ter)	DICER1	Pathogenic	14	95562503	95562503	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576127
Deletion	NM_177438.3(DICER1):c.4762del (p.Gly1587_Leu1588insTer)	DICER1	Pathogenic	14	95562495	95562495	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_177438.3(DICER1):c.4812C>A (p.Cys1604Ter)	DICER1	Pathogenic	14	95562445	95562445	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA390867027
single nucleotide variant	NM_177438.3(DICER1):c.4853C>A (p.Ser1618Ter)	DICER1	Pathogenic	14	95562404	95562404	G	T	criteria provided, single submitter	ClinGen:CA390866734
Deletion	NM_177438.3(DICER1):c.4923_4926del (p.Gly1640_Cys1641insTer)	DICER1	Pathogenic	14	95562331	95562334	TCAAA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369608
Duplication	NM_177438.3(DICER1):c.4960_4961dup (p.Asp1654fs)	DICER1	Pathogenic	14	95562295	95562296	A	ATC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586410
Deletion	NM_177438.3(DICER1):c.4984del (p.Ile1663fs)	DICER1	Pathogenic	14	95562273	95562273	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369628