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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RORA, RORA-AS1
(Q465H +3 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
GUncertain significance
RORA, RORA-AS1
(D334N +3 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
GUncertain significance
RORA-AS1, RORA
(D150N +3 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
GUncertain significance
RORA, RORA-AS1
(D143N +3 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
GUncertain significance
RORA, RORA-AS1
(R115H +3 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
+1 more
GUncertain significance
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