| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant | Microphthalmia with brain and digit anomalies +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +2 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia with brain and digit anomalies +1 more | |
| | | Single nucleotide variant (synonymous variant) | Orofacial cleft 11 +2 more | |
| | | Single nucleotide variant (missense variant) | Syndromic Microphthalmia, Dominant +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Microphthalmia with brain and digit anomalies +1 more | |
Click to view in NCBI Gene