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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CPAMD8
Single nucleotide variant
(intron variant)
Anterior segment dysgenesis 8
GUncertain significance
CPAMD8
Deletion
(splice donor variant)
Anterior segment dysgenesis 8
+1 more
GLikely pathogenic