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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP89
(L554S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
CEP89
(E499D)
Single nucleotide variant
(missense variant)
CEP89-related condition
+1 more
GLikely benign
CEP89
Single nucleotide variant
(synonymous variant)
CEP89-related condition
+1 more
GBenign/Likely benign
CEP89
Single nucleotide variant
(synonymous variant)
CEP89-related condition
+1 more
GBenign
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