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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDH1A3, ALDH1A3-AS1
(A145V)
Single nucleotide variant
(non-coding transcript variant +2 more)
Isolated microphthalmia 8
GLikely pathogenic
ALDH1A3, ALDH1A3-AS1
(I262F +1 more)
Single nucleotide variant
(missense variant)
Isolated microphthalmia 8
GLikely pathogenic