| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | Autism | |
| | LOC129931064, LOC129931065 +563 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LAMTOR5, LOC129931145 (R68H) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | LAMTOR5, LOC129931145 (T53P) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LAMTOR5, LOC129931145 (V40M) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | Hereditary spastic paraplegia 63 +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not specified | |
| | | Deletion | Developmental and epileptic encephalopathy, 32 | |
| | | Copy number loss | Seizure +1 more | |
| | | Deletion | not provided | |
| | | Deletion | 1p13.3 deletion syndrome | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
Click to view in NCBI Gene