| | | Single nucleotide variant (missense variant) | Simpson-Golabi-Behmel syndrome type 2 +4 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +4 more | |
| | | Single nucleotide variant (synonymous variant) | Retinal dystrophy +5 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +4 more | |
| | | Single nucleotide variant (intron variant) | Simpson-Golabi-Behmel syndrome type 2 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Orofaciodigital syndrome I +4 more | |
| | | Single nucleotide variant (missense variant) | Simpson-Golabi-Behmel syndrome type 2 +5 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis +4 more | |
| | | Single nucleotide variant (missense variant) | Orofaciodigital syndrome I +7 more | |
| | | Deletion (intron variant) | Orofaciodigital syndrome I +4 more | |
| | | Single nucleotide variant (splice donor variant) | Retinitis pigmentosa 23 +3 more | |
| | | Deletion (intron variant) | OFD1-related disorder +5 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 23 +4 more | |
| | | Microsatellite (intron variant) | Retinitis pigmentosa 23 +4 more | |
| | | Indel (intron variant) | Retinitis pigmentosa 23 +4 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 23 +4 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +4 more | |
| | | Single nucleotide variant (intron variant) | Orofaciodigital syndrome I +5 more | |
| | | Single nucleotide variant (synonymous variant) | Orofaciodigital syndrome I +6 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial aplasia of the vermis +4 more | |
| | | Single nucleotide variant (missense variant) | Orofaciodigital syndrome I +4 more | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +6 more | |
| | | Single nucleotide variant (missense variant) | Simpson-Golabi-Behmel syndrome type 2 +4 more | |
| | | Single nucleotide variant (missense variant) | Simpson-Golabi-Behmel syndrome type 2 +4 more | |
| | | Single nucleotide variant (missense variant) | Orofaciodigital syndrome I +5 more | |
| | | Single nucleotide variant (missense variant) | Orofaciodigital syndrome I +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Orofaciodigital syndrome I +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +5 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Orofaciodigital syndrome I +4 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 23 +4 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +5 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial aplasia of the vermis +4 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 23 +6 more | |
| | | Single nucleotide variant (intron variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +8 more | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +6 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +7 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 23 | |
| | | Single nucleotide variant (intron variant) | Orofaciodigital syndrome I +6 more | |
| | | Duplication (frameshift variant) | Joubert syndrome 10 +4 more | |
| | | Deletion (frameshift variant +1 more) | Familial aplasia of the vermis +5 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +7 more | |
| | | Single nucleotide variant (nonsense +1 more) | Joubert syndrome 10 +4 more | |
| | | Microsatellite (frameshift variant) | not provided +4 more | |