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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CA4
Single nucleotide variant
(synonymous variant +1 more)
Retinal dystrophy
+2 more
GBenign
CA4
(V234I)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign/Likely benign
CA4
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
+1 more
GUncertain significance
CA4
(A308D)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
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