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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RORA, RORA-AS1
Single nucleotide variant
(stop lost)
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
GUncertain significance
RORA, RORA-AS1
(I394fs +3 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
GLikely pathogenic
RORA, RORA-AS1
(I270K +3 more)
Indel
(missense variant)
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
GUncertain significance
RORA, RORA-AS1
(H229P +3 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
GUncertain significance
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