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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC38A8
(L164fs)
Deletion
(frameshift variant)
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
GPathogenic
SLC38A8
(I32S)
Single nucleotide variant
(missense variant)
not provided
GPathogenic