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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC112806037, LOC129934573
+1 more
Deletion
Retinitis pigmentosa
GLikely pathogenic
MERTK
(R722*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa
+3 more
GPathogenic/Likely pathogenic
MERTK
(R727G)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
GLikely pathogenic
MERTK
(R727Q)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
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