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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RTN4IP1
(K201* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
RTN4IP1
(R103H +1 more)
Single nucleotide variant
(missense variant)
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures
+1 more
GPathogenic
RTN4IP1
(R31T)
Single nucleotide variant
(missense variant +1 more)
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures
GUncertain significance
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