| | | Single nucleotide variant (missense variant) | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | |
| | | Single nucleotide variant (splice donor variant) | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, with impaired proprioception and touch +2 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | |
| | | Deletion (frameshift variant) | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | |
| | | Duplication (frameshift variant) | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | Arthrogryposis, distal, with impaired proprioception and touch +4 more | |
| | | Single nucleotide variant (intron variant) | Arthrogryposis, distal, with impaired proprioception and touch +4 more | |
| | | Deletion (intron variant) | Arthrogryposis, distal, with impaired proprioception and touch +4 more | |
| | | Deletion (intron variant) | Arthrogryposis, distal, with impaired proprioception and touch +5 more | |
| | | Single nucleotide variant (intron variant) | Arthrogryposis, distal, with impaired proprioception and touch +4 more | |
| | | Single nucleotide variant (intron variant) | Gordon syndrome +4 more | |
| | | Deletion (intron variant) | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome +4 more | |
| | | Single nucleotide variant (intron variant) | Gordon syndrome +4 more | |
| | | Deletion (intron variant) | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome +4 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | Gordon syndrome +4 more | |
| | | Single nucleotide variant (intron variant) | Arthrogryposis, distal, with impaired proprioception and touch +4 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Arthrogryposis, distal, with impaired proprioception and touch +5 more | |
| | | Single nucleotide variant (synonymous variant) | Arthrogryposis, distal, with impaired proprioception and touch +5 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +5 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +5 more | |
| | | Single nucleotide variant (intron variant) | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome +5 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, with impaired proprioception and touch +5 more | |
| | | Single nucleotide variant (synonymous variant) | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome +5 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +5 more | |
| | | Single nucleotide variant (synonymous variant) | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome +5 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | |
| | | Microsatellite (inframe_deletion) | not provided +3 more | |
| | | Deletion (frameshift variant) | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, with impaired proprioception and touch +4 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +6 more | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | |