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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EYS, PHF3
(G3110A +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Retinitis pigmentosa
GLikely pathogenic
EYS, PHF3
(V3117fs +1 more)
Deletion
(frameshift variant +1 more)
Retinitis pigmentosa 25
+3 more
GPathogenic/Likely pathogenic
EYS, PHF3
(N3096fs +1 more)
Deletion
(3 prime UTR variant +1 more)
Retinitis pigmentosa
GPathogenic
EYS, PHF3
Deletion
(3 prime UTR variant +1 more)
not provided
GUncertain significance
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