| | | Deletion | Joubert syndrome 18 +1 more | |
| | | Duplication (frameshift variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (missense variant) | Orofacial-digital syndrome IV +1 more | |
| | | Deletion (intron variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 18 +1 more | |
| | | Deletion (frameshift variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 18 +1 more | |
| | | Duplication (frameshift variant) | Joubert syndrome 18 +1 more | |
| | LOC130004408, TCTN3 (M1K +1 more) | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 18 +1 more | |
| | TCTN3, LOC130004408 (Q28* +1 more) | Single nucleotide variant (nonsense) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Orofacial-digital syndrome IV | |
| | | Single nucleotide variant (missense variant +1 more) | Orofacial-digital syndrome IV +1 more | |
| | | Duplication | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (intron variant) | Orofacial-digital syndrome IV +1 more | |
| | | Single nucleotide variant (synonymous variant) | Orofacial-digital syndrome IV +1 more | |
| | | Deletion (inframe_indel) | Orofacial-digital syndrome IV +1 more | |
| | | Insertion (frameshift variant) | Joubert syndrome 18 +1 more | |
| | | Duplication (frameshift variant) | Orofacial-digital syndrome IV +1 more | |
| | LOC130004408, TCTN3 (G19D +1 more) | Single nucleotide variant (missense variant) | Orofacial-digital syndrome IV +2 more | |
| | | Duplication (frameshift variant +1 more) | Joubert syndrome 18 +1 more | |
| | LOC130004408, TCTN3 (F34L +1 more) | Single nucleotide variant (missense variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (intron variant) | Orofacial-digital syndrome IV +1 more | |
| | | Single nucleotide variant (synonymous variant) | Orofacial-digital syndrome IV +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 18 +1 more | |
| | | Duplication (frameshift variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (missense variant) | Orofacial-digital syndrome IV +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Orofacial-digital syndrome IV +1 more | |
| | LOC130004408, TCTN3 (L36S +1 more) | Single nucleotide variant (missense variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (missense variant) | Orofacial-digital syndrome IV +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 18 +2 more | |
| | | Single nucleotide variant (missense variant) | Orofacial-digital syndrome IV +1 more | |
| | | Single nucleotide variant (synonymous variant) | Orofacial-digital syndrome IV +1 more | |
| | | Single nucleotide variant (missense variant) | Orofacial-digital syndrome IV +1 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Orofacial-digital syndrome IV +1 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 18 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Orofacial-digital syndrome IV +1 more | |
| | | Single nucleotide variant (missense variant) | Orofacial-digital syndrome IV +1 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (missense variant) | Orofacial-digital syndrome IV +1 more | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Orofacial-digital syndrome IV +1 more | |
| | | Single nucleotide variant (synonymous variant) | Orofacial-digital syndrome IV +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Orofacial-digital syndrome IV +1 more | |
| | LOC130004408, TCTN3 (V104F +1 more) | Single nucleotide variant (missense variant) | Orofacial-digital syndrome IV +1 more | |
| | | Single nucleotide variant (synonymous variant) | Orofacial-digital syndrome IV +1 more | |
| | | Deletion (frameshift variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 18 +1 more | |
| | LOC130004408, TCTN3 (A31E +1 more) | Single nucleotide variant (missense variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 18 +1 more | |
| | | Duplication (frameshift variant) | Orofacial-digital syndrome IV +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Orofacial-digital syndrome IV +1 more | |
| | LOC130004408, TCTN3 (P82L +1 more) | Single nucleotide variant (missense variant) | Orofacial-digital syndrome IV +1 more | |
| | LOC130004408, TCTN3 (T34K +1 more) | Single nucleotide variant (missense variant) | Orofacial-digital syndrome IV +1 more | |
| | LOC130004408, TCTN3 (R39W +1 more) | Single nucleotide variant (missense variant) | Orofacial-digital syndrome IV +1 more | |
| | | Duplication (frameshift variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (intron variant) | Joubert syndrome 18 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Joubert syndrome 18 +1 more | |