| | ARL2, ARL2-SNX15 +1 more (M10T) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | ARL2, ARL2-SNX15 +1 more (R15L) | Single nucleotide variant (non-coding transcript variant +1 more) | Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ARL2, ARL2-SNX15 (R121C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ARL2, ARL2-SNX15 (R148H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ARL2, ARL2-SNX15 (V133I +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ARL2, ARL2-SNX15 (P140L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | Leukocyte adhesion deficiency 3 | |
| | | Copy number gain | MISSED ABORTION | |
| | | Deletion | Glycogen storage disease, type V +1 more | |
| | | Deletion | Intellectual disability | |
| | | Copy number gain | not provided | |
| | | Duplication | Ependymoma | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |