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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAF
(A302V)
Single nucleotide variant
(missense variant)
Ayme-Gripp syndrome
+1 more
GLikely pathogenic
MAF
(Q291E)
Single nucleotide variant
(missense variant)
Cataract 21 multiple types
GLikely pathogenic