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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRR12
(P304fs)
Duplication
(frameshift variant)
Neuroocular syndrome
+5 more
GPathogenic
PRR12
(E640*)
Single nucleotide variant
(nonsense)
Neuroocular syndrome
+5 more
GPathogenic
PRR12
(L1501fs)
Deletion
(frameshift variant)
Abnormality of vision
+4 more
GPathogenic
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