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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EXOSC5
(D8E)
Single nucleotide variant
(missense variant)
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
GUncertain significance
EXOSC5
(M148T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EXOSC5
Single nucleotide variant
(missense variant)
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
GPathogenic/Likely pathogenic
EXOSC5
(H30fs)
Deletion
(frameshift variant)
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
GPathogenic
EXOSC5
Single nucleotide variant
(missense variant)
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
GPathogenic
EXOSC5
Deletion
(splice acceptor variant +1 more)
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
GPathogenic
EXOSC5
Single nucleotide variant
(missense variant)
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
GPathogenic/Likely pathogenic
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