| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +4 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
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