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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EYS, PHF3
(Y3086* +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
(C2668F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EYS
(Y2176*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 25
+2 more
GPathogenic/Likely pathogenic
EYS
(T1987fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 25
GLikely pathogenic
EYS
Microsatellite
(splice donor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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