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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFAP418
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CFAP418
(N90S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
CFAP418, CFAP418-AS1
+1 more
Single nucleotide variant
(splice donor variant)
Cone-rod dystrophy 16
+1 more
GPathogenic
CFAP418, CFAP418-AS1
+1 more
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa
+3 more
GConflicting classifications of pathogenicity
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