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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPGRIP1L
(R602Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
RPGRIP1L
(N455S)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GUncertain significance
RPGRIP1L
(A204D)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+5 more
GUncertain significance
RPGRIP1L
(P149L)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GUncertain significance
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