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Items: 9

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr9:37780831
GRCh38:
Chr9:37780834
EXOSC3Pontoneocerebellar hypoplasia, not specifiedGO-ESP:0.07204(G)
GMAF:0.03570(G)
GO-ESP:0.06685(G)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr9:37782037
GRCh38:
Chr9:37782040
EXOSC3not specifiedUncertain significance
(Sep 16, 2014)
criteria provided, single submitter
3.
GRCh37:
Chr9:37782111
GRCh38:
Chr9:37782114
EXOSC3Pontoneocerebellar hypoplasia, not specifiedGO-ESP:0.52914(T)
GMAF:0.43590(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr9:37783990
GRCh38:
Chr9:37783993
EXOSC3Pontocerebellar hypoplasia, type 1b, not provided, Inborn genetic diseases
GO-ESP:0.00085(G)
GO-ESP:0.00032(G)
Pathogenic/Likely pathogenic
(Jun 4, 2016)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr9:37784057
GRCh38:
Chr9:37784060
EXOSC3not specifiedGMAF:0.00060(T)
GO-ESP:0.00046(T)
Uncertain significance
(Aug 6, 2015)
criteria provided, single submitter
6.
GRCh37:
Chr9:37784804
GRCh38:
Chr9:37784807
EXOSC3Pontocerebellar hypoplasia, type 1bGO-ESP:0.00010(A)Pathogenic/Likely pathogenic
(Apr 22, 2014)
criteria provided, single submitter
7.
GRCh37:
Chr9:37784849
GRCh38:
Chr9:37784852
EXOSC3not specifiedGMAF:0.00300(T)
GO-ESP:0.00073(T)
Uncertain significance
(Oct 8, 2014)
criteria provided, single submitter
8.
GRCh37:
Chr9:37784930
GRCh38:
Chr9:37784933
EXOSC3Pontocerebellar hypoplasia, type 1bPathogenic
(Dec 23, 2013)
criteria provided, single submitter
9.
GRCh37:
Chr9:37784950
GRCh38:
Chr9:37784953
EXOSC3Pontocerebellar hypoplasia, type 1bGO-ESP:0.00001(G)Pathogenic
(Aug 11, 2014)
criteria provided, single submitter
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