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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RORA, RORA-AS1
(E362D +3 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
GUncertain significance
RORA, RORA-AS1
(F349L +3 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
GUncertain significance
RORA, RORA-AS1
Single nucleotide variant
(intron variant)
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
GUncertain significance
RORA, RORA-AS1
(M1K)
Single nucleotide variant
(missense variant +2 more)
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
GUncertain significance
RORA
(R47T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
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