| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | ABHD14A, ABHD14A-ACY1 +329 more | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia +1 more | |
Click to view in NCBI Gene