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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MERTK
(F199L)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 38
+1 more
GUncertain significance
MERTK
(Y812S)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 38
+2 more
GConflicting classifications of pathogenicity
MERTK
(R844C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
ACOXL, ANAPC1
+9 more
Copy number loss
not provided
GLikely pathogenic
ACOXL, ANAPC1
+7 more
Copy number loss
not provided
GPathogenic
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