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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EYS, PHF3
(N3061Y +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Retinitis pigmentosa 25
GUncertain significance
PHF3, EYS
(M3019T +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Retinitis pigmentosa 25
GLikely pathogenic
EYS, PHF3
(V2944fs +1 more)
Deletion
(3 prime UTR variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
EYS, PHF3
(Q2952fs +1 more)
Deletion
(3 prime UTR variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
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