| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication (3 prime UTR variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Deletion | not provided | |
| | | Duplication | Hereditary spastic paraplegia 75 | |
| | | Deletion | Brugada syndrome 5 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Specific learning disability | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Generalized epilepsy with febrile seizures plus, type 1 | |
| | PGLYRP1, PGLYRP2 +1364 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
Click to view in NCBI Gene