| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | EVI5-related condition | |
| | | Single nucleotide variant (nonsense) | Ichthyosis vulgaris +6 more | GPathogenic/Likely pathogenic |
| | | Deletion | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | CDKN1C-related condition +4 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2L | |
| | | Single nucleotide variant (nonsense) | Schaaf-Yang syndrome +1 more | |
| | | Deletion | Angelman syndrome | |
| | | Duplication (frameshift variant) | Spondylocostal dysostosis 5 | |
| | | Deletion (frameshift variant) | Spondylocostal dysostosis 5 | |
| | | Duplication (frameshift variant) | Spondylocostal dysostosis 5 | |
| | | Single nucleotide variant (nonsense) | Spondylocostal dysostosis 5 | |
| | | Duplication (frameshift variant) | Spondylocostal dysostosis 5 | |
| | | Duplication (frameshift variant) | Spondylocostal dysostosis 5 | |
| | | Deletion | Spondylocostal dysostosis 5 | |
| | | Translocation | not provided | |
| | | Deletion (inframe_deletion +1 more) | Combined oxidative phosphorylation deficiency 55 | |
| | | Indel (missense variant) | Developmental and epileptic encephalopathy, 9 | GConflicting classifications of pathogenicity |
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