| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | C18orf32, RPL17-C18orf32 (F31fs +2 more) | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Developmental and epileptic encephalopathy, 38 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | CROMER BLOOD GROUP SYSTEM, Dr(a-) PHENOTYPE | |
| | | Single nucleotide variant (splice donor variant) | ARV1-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hyperphosphatasia with intellectual disability syndrome 6 | |
| | | Deletion (inframe_deletion +1 more) | not provided | |
| | | Duplication (frameshift variant +2 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | |
| | | Single nucleotide variant (splice acceptor variant) | Paroxysmal nocturnal hemoglobinuria 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| | | Single nucleotide variant (missense variant +2 more) | Hyperphosphatasia with intellectual disability syndrome 3 | |
| | | Single nucleotide variant (missense variant +3 more) | Hyperphosphatasia with intellectual disability syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Hyperphosphatasia with intellectual disability syndrome 2 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +3 more | |
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