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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZNF408
(S126N +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GConflicting classifications of pathogenicity
ZNF408
(H455Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ZNF408
(R541C +1 more)
Single nucleotide variant
(missense variant)
Exudative vitreoretinopathy 6
+3 more
GPathogenic/Likely pathogenic
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