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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA4
(S2255I +1 more)
Single nucleotide variant
(missense variant)
not specified
+11 more
GBenign
ABCA4
Single nucleotide variant
(intron variant)
Retinitis Pigmentosa, Recessive
+10 more
GBenign/Likely benign
ABCA4
(R255C)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GConflicting classifications of pathogenicity
ABCA4
(G65E)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+5 more
GPathogenic/Likely pathogenic
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