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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EYS, PHF3
Insertion
(3 prime UTR variant +1 more)
Retinitis pigmentosa 25
GPathogenic
THRB
Single nucleotide variant
(splice donor variant)
Macular dystrophy
GPathogenic
CFAP20
(R113W)
Single nucleotide variant
(missense variant +1 more)
Rod-cone dystrophy
GUncertain significance
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