| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Exudative vitreoretinopathy 4 | |
| | | Single nucleotide variant (missense variant) | Exudative vitreoretinopathy 4 | |
| | | Single nucleotide variant (missense variant) | Exudative vitreoretinopathy 4 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal dominant osteopetrosis 1 +8 more | |
| | | Single nucleotide variant (missense variant) | Vitreoretinopathy | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease, adult type | |
| | | Deletion | Osteoporosis with pseudoglioma | |
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