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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP78
(A36T)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy and hearing loss 1
+1 more
GUncertain significance
CEP78
(E319Q)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy and hearing loss 1
+2 more
GBenign
CEP78
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
CEP78
Insertion
(inframe_indel)
Cone-rod dystrophy and hearing loss 1
+1 more
GUncertain significance
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