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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PBX3
(G17fs +1 more)
Deletion
(frameshift variant +1 more)
X-linked cone-rod dystrophy
GLikely pathogenic
PBX3
(E191A +1 more)
Single nucleotide variant
(missense variant +1 more)
X-linked cone-rod dystrophy
GUncertain significance
PBX3
(A241fs +1 more)
Duplication
(frameshift variant +1 more)
X-linked cone-rod dystrophy
GLikely pathogenic
PBX3
(A241fs +1 more)
Insertion
(frameshift variant +1 more)
X-linked cone-rod dystrophy
GLikely pathogenic
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