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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRR12
(P193A)
Single nucleotide variant
(missense variant)
Neuroocular syndrome
GUncertain significance
PRR12
(L802H)
Single nucleotide variant
(missense variant)
Neuroocular syndrome
GUncertain significance
PRR12
(S1135*)
Single nucleotide variant
(nonsense)
Neuroocular syndrome
GLikely pathogenic
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