| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | SPTSSA-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Spastic paraplegia 90B, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Seizure | |
| | | Deletion | Brain-lung-thyroid syndrome | |
| | | Copy number loss | Poor motor coordination | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861920, LOC126861921 +3280 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | BAZ1A, BAZ1A-AS1 +156 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130055392, LOC130055393 +780 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130055370, LOC130055371 +840 more | Copy number loss | See cases | |
Click to view in NCBI Gene