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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA4
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 19
GLikely pathogenic
ABCA4
(S1096fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 19
GPathogenic
ABCA4
(F754S)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
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