| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | HACE1, LOC110121109
+2 more | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Spastic paraplegia-severe developmental delay-epilepsy syndrome +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Deletion (splice donor variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
Click to view in NCBI Gene