| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Foveal hypoplasia +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity; other |
| | | Duplication (frameshift variant) | Abnormality of metabolism/homeostasis +6 more | |
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