| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Hypertelorism +13 more | |
| | | Copy number loss | Intellectual disability, mild +7 more | |
| | | Copy number gain | Intellectual disability, mild +7 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +25 more | GPathogenic/Likely pathogenic |
| | | Indel (frameshift variant) | Nystagmus +8 more | |
| | | Duplication (frameshift variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | CHIME syndrome +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | LOC126863207, MID1 (N589D +1 more) | Single nucleotide variant (missense variant) | Low-set ears +4 more | |
| | | Single nucleotide variant (missense variant) | Abnormality of the lower limb +13 more | |
| | | Single nucleotide variant (missense variant) | Low-set ears +3 more | |
| | | Single nucleotide variant | Mitochondrial disease | |
Click to view in NCBI Gene