| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC123775388, LOC123775389 +1449 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Intellectual disability, autosomal dominant 55, with seizures | |
| | LOC129389639, LOC129389640 +254 more | Copy number loss | See cases | |
| | | Deletion | Interstitial 6q microdeletion syndrome | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | TRE-CTC1-7, TRMT11 +75 more | Copy number loss | See cases | |
| | LOC123833537, SMPDL3A (L11V) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | LOC123833537, SMPDL3A (P24L) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
Click to view in NCBI Gene