| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Cockayne syndrome type 2 +4 more | |
| | | Single nucleotide variant (missense variant) | Cerebrooculofacioskeletal syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +10 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Cerebrooculofacioskeletal syndrome 1 +7 more | |
| | | Single nucleotide variant (nonsense) | Cerebrooculofacioskeletal syndrome 1 +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cerebrooculofacioskeletal syndrome 1 | |
| | | Copy number loss | not provided | |
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