| | LOC130065566, LOC130065567 +2522 more | Copy number gain | See cases | |
| | LOC125387319, LOC125387320 +1024 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | Duane-radial ray syndrome | |
| | | Copy number loss | Duane-radial ray syndrome | |
| | | Duplication (3 prime UTR variant) | not provided | |
| | | Deletion (3 prime UTR variant) | not provided | |
| | | Duplication (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Duane-radial ray syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Duane-radial ray syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Duane-radial ray syndrome | |
| | | Single nucleotide variant (missense variant) | Duane-radial ray syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | SALL4-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Duane-radial ray syndrome | |
| | | Single nucleotide variant (synonymous variant) | Duane-radial ray syndrome | |
| | | Single nucleotide variant (missense variant) | Duane-radial ray syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Duane-radial ray syndrome | |
| | | Single nucleotide variant (missense variant) | Duane-radial ray syndrome | |
| | | Single nucleotide variant (synonymous variant) | Duane-radial ray syndrome | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Duane-radial ray syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Duane-radial ray syndrome | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Duane-radial ray syndrome | |
| | | Single nucleotide variant (missense variant) | Duane-radial ray syndrome | |
| | | Single nucleotide variant (missense variant) | Duane-radial ray syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Duane-radial ray syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Duane-radial ray syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | SALL4-related condition | |
| | | Single nucleotide variant (synonymous variant) | Duane-radial ray syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Duane-radial ray syndrome | |
| | | Indel (missense variant) | not specified | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Oculootoradial syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Oculootoradial syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | SALL4-related condition | |
| | | Single nucleotide variant (missense variant) | Duane-radial ray syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Indel (frameshift variant) | SALL4-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Duane-radial ray syndrome | |
| | | Single nucleotide variant (missense variant) | Duane-radial ray syndrome | |
| | | Single nucleotide variant (intron variant) | Duane-radial ray syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Duane-radial ray syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Duane-radial ray syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Duane-radial ray syndrome | |
| | | Single nucleotide variant (synonymous variant) | Duane-radial ray syndrome | |
| | | Single nucleotide variant (missense variant) | Duane-radial ray syndrome | |
| | | Single nucleotide variant (synonymous variant) | Duane-radial ray syndrome | |
| | | Single nucleotide variant (missense variant) | Duane-radial ray syndrome | |
| | | Single nucleotide variant (synonymous variant) | Duane-radial ray syndrome | |
| | | Single nucleotide variant (synonymous variant) | Duane-radial ray syndrome | |
| | | Single nucleotide variant (synonymous variant) | Duane-radial ray syndrome +2 more | |
| | | Deletion (frameshift variant) | Oculootoradial syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | SALL4-related condition | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Indel (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Duane-radial ray syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Duane-radial ray syndrome | |
| | | Single nucleotide variant (synonymous variant) | Duane-radial ray syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | SALL4-related condition | |
| | | Single nucleotide variant (intron variant) | Duane-radial ray syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Duane-radial ray syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | SALL4-related condition | |
| | | Duplication (frameshift variant +1 more) | Duane-radial ray syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Oculootoradial syndrome +2 more | |
| | | Duplication (frameshift variant +1 more) | Duane-radial ray syndrome | |
| | | Deletion (frameshift variant +1 more) | Duane-radial ray syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Oculootoradial syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Duane-radial ray syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |