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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP1B1
(E387K)
Single nucleotide variant
(missense variant)
Congenital glaucoma
+6 more
GPathogenic/Likely pathogenic
CYP1B1
(R368H)
Single nucleotide variant
(missense variant)
Congenital glaucoma
+6 more
GConflicting classifications of pathogenicity