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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFAP410
(P116L +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy with or without macular staphyloma
+1 more
GLikely pathogenic
CFAP410
(Y107H +1 more)
Single nucleotide variant
(missense variant)
Axial spondylometaphyseal dysplasia
+1 more
GPathogenic