| | | Single nucleotide variant (nonsense) | Orofaciodigital syndrome I | |
| | | Duplication | Orofaciodigital syndrome I +1 more | |
| | | Deletion (frameshift variant) | Orofaciodigital syndrome I | |
| | | Single nucleotide variant (intron variant) | Orofaciodigital syndrome I | |
| | | Duplication (frameshift variant) | Orofaciodigital syndrome I | |
| | | Microsatellite (frameshift variant) | Orofaciodigital syndrome I | |
| | | Single nucleotide variant (intron variant) | Orofaciodigital syndrome I | |
| | | Single nucleotide variant (missense variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (synonymous variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +1 more | |
| | | Deletion (frameshift variant +1 more) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (synonymous variant) | Primary ciliary dyskinesia +2 more | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis +1 more | |
| | | Duplication (intron variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis +1 more | |
| | | Deletion (intron variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (intron variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (splice donor variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (intron variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (intron variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (missense variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (missense variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (intron variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (missense variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (missense variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (nonsense) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (missense variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (synonymous variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (missense variant) | Orofaciodigital syndrome I +1 more | |
| | | Duplication (frameshift variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +1 more | |
| | | Deletion (frameshift variant) | Familial aplasia of the vermis +1 more | |
| | | Microsatellite (frameshift variant +1 more) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (nonsense) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (synonymous variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (missense variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (missense variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (missense variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +2 more | |
| | | Deletion (intron variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (intron variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (missense variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (missense variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +2 more | |
| | | Single nucleotide variant (intron variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (missense variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (intron variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (missense variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (missense variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (missense variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (synonymous variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (synonymous variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (missense variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (intron variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (intron variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (intron variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (intron variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (missense variant) | Orofaciodigital syndrome I +1 more | |
| | | Deletion (splice acceptor variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (intron variant) | Orofaciodigital syndrome I +1 more | |
| | | Deletion (intron variant) | Orofaciodigital syndrome I +1 more | |
| | | Duplication (intron variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (missense variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (missense variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (missense variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (intron variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (synonymous variant) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Orofaciodigital syndrome I +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial aplasia of the vermis +1 more | |