| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130065743, LOC130065744 +254 more | Copy number gain | See cases | |
| | C20orf173, CEP250 +35 more | Copy number loss | See cases | |
| | LOC130065861, LOC130065862 +568 more | Copy number loss | See cases | |
| | LOC130065566, LOC130065567 +2522 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130065574, LOC130065575 +950 more | Copy number gain | See cases | |
Click to view in NCBI Gene