| | | Deletion | Familial exudative vitreoretinopathy | |
| | | Single nucleotide variant (splice donor variant) | Familial exudative vitreoretinopathy +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Familial exudative vitreoretinopathy | |
| | | Single nucleotide variant (missense variant) | Familial exudative vitreoretinopathy | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial exudative vitreoretinopathy | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Familial exudative vitreoretinopathy | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Deletion (inframe_deletion) | TSPAN12-related disorder | |
| | | Deletion (5 prime UTR variant) | not provided +1 more | |
| | | Duplication (5 prime UTR variant) | Familial exudative vitreoretinopathy +1 more | |
| | | Duplication (5 prime UTR variant) | Familial exudative vitreoretinopathy | |
| | | Deletion (3 prime UTR variant) | Familial exudative vitreoretinopathy | |
| | | Duplication (3 prime UTR variant) | Familial exudative vitreoretinopathy | |
| | | Indel (3 prime UTR variant) | Familial exudative vitreoretinopathy | |
| | | Deletion (3 prime UTR variant) | Familial exudative vitreoretinopathy | |
| | | Microsatellite (3 prime UTR variant) | Familial exudative vitreoretinopathy +1 more | |
| | | Microsatellite (3 prime UTR variant) | Familial exudative vitreoretinopathy +1 more | |
| | | Microsatellite (3 prime UTR variant) | Familial exudative vitreoretinopathy | |
| | | Microsatellite (3 prime UTR variant) | Familial exudative vitreoretinopathy | |
| | | Microsatellite (3 prime UTR variant) | Familial exudative vitreoretinopathy | |
| | | Deletion (3 prime UTR variant) | Familial exudative vitreoretinopathy | |
| | | Deletion (3 prime UTR variant) | Familial exudative vitreoretinopathy | |
| | | Single nucleotide variant (missense variant) | Atrophia bulborum hereditaria +3 more | |
| | | Microsatellite (non-coding transcript variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Exudative vitreoretinopathy 1 +5 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Exudative retinopathy +1 more | |
| | | Single nucleotide variant (splice donor variant) | Exudative retinopathy +1 more | |
| | | Duplication (intron variant) | Familial exudative vitreoretinopathy +2 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |