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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WDR45
(V80L)
Single nucleotide variant
(missense variant +1 more)
Optic atrophy 2
GLikely pathogenic
LOC126863256, WDR45
(P36H)
Single nucleotide variant
(missense variant)
Optic atrophy 2
GLikely pathogenic