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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHM
Duplication
(splice donor variant)
Choroideremia, Salla type
+1 more
GPathogenic
CHM
(V529fs +1 more)
Microsatellite
(frameshift variant)
Retinal dystrophy
+2 more
GPathogenic
CHM
(C406* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CHM
(R293* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CHM
Single nucleotide variant
(splice donor variant)
Retinal dystrophy
+1 more
GPathogenic/Likely pathogenic
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