NM_015631.6(TCTN3):c.276_277del (p.Cys92_Asp93delinsTer)Pathogenic
not provided|Orofacial-digital syndrome IV;Joubert syndrome 18
β
β
ββ2026β Residue 92
NM_015631.6(TCTN3):c.256+2_256+7delLikely pathogenic
Orofacial-digital syndrome IV;Joubert syndrome 18|Joubert syndrome and related disorders|not provided
β
β
ββ2026
NM_015631.6(TCTN3):c.338_341del (p.His113fs)Pathogenic
Orofacial-digital syndrome IV;Joubert syndrome 18|TCTN3-related disorder|Joubert syndrome and related disorders
β
β
ββ2026β Residue 113
NM_015631.6(TCTN3):c.877C>T (p.Gln293Ter)Pathogenic
Orofacial-digital syndrome IV|Joubert syndrome 18;Orofacial-digital syndrome IV
β
β
ββ2025β Residue 293
NM_015631.6(TCTN3):c.1520dup (p.Gly508fs)Pathogenic
Orofacial-digital syndrome IV;Joubert syndrome 18|Joubert syndrome and related disorders
β
β
ββ2025β Residue 508
NM_015631.6(TCTN3):c.182dup (p.Gly62fs)Pathogenic
Orofacial-digital syndrome IV;Joubert syndrome 18|Ciliopathy
β
β
ββ2025β Residue 62
NM_015631.6(TCTN3):c.2T>G (p.Met1Arg)Pathogenic
Orofacial-digital syndrome IV;Joubert syndrome 18|Joubert syndrome and related disorders|TCTN3-related disorder
β
β
ββ2025β Residue 1
NM_015631.6(TCTN3):c.1327C>T (p.Gln443Ter)Pathogenic
Orofacial-digital syndrome IV|Orofacial-digital syndrome IV;Joubert syndrome 18|not provided
β
β
ββ2025β Residue 443
NM_015631.6(TCTN3):c.1096-2A>GLikely pathogenic
Joubert syndrome 18;Orofacial-digital syndrome IV
β
β
ββ2025
NM_015631.6(TCTN3):c.3G>A (p.Met1Ile)Pathogenic
Joubert syndrome 18|Orofacial-digital syndrome IV;Joubert syndrome 18|not provided|Joubert syndrome and related disorders
β
β
ββ2024β Residue 1
NM_015631.6(TCTN3):c.622dup (p.Tyr208fs)Pathogenic
Joubert syndrome and related disorders|Orofacial-digital syndrome IV;Joubert syndrome 18
β
β
ββ2024β Residue 208
NM_015631.6(TCTN3):c.940G>T (p.Gly314Ter)Pathogenic
Orofacial-digital syndrome IV;Joubert syndrome 18|Joubert syndrome and related disorders
β
β
ββ2024β Residue 314
NM_015631.6(TCTN3):c.776dup (p.Lys260fs)Pathogenic
Orofacial-digital syndrome IV;Joubert syndrome 18
β
β
ββ2024β Residue 260
NM_015631.6(TCTN3):c.710del (p.Gly237fs)Pathogenic
Orofacial-digital syndrome IV;Joubert syndrome 18
β
β
ββ2024β Residue 237
NM_015631.6(TCTN3):c.650_653del (p.Tyr217fs)Pathogenic
Orofacial-digital syndrome IV;Joubert syndrome 18|Orofacial-digital syndrome IV
β
β
ββ2024β Residue 217
NM_015631.6(TCTN3):c.1A>G (p.Met1Val)Pathogenic
Joubert syndrome 18|Orofacial-digital syndrome IV;Joubert syndrome 18
β
β
ββ2023β Residue 1
NM_015631.6(TCTN3):c.910dup (p.Thr304fs)Pathogenic
Inborn genetic diseases|Orofacial-digital syndrome IV;Joubert syndrome 18
β
β
ββ2022β Residue 304
NM_015631.6(TCTN3):c.711del (p.Leu238fs)Pathogenic
Joubert syndrome 18;Orofacial-digital syndrome IV
β
βββ2026β Residue 238
NM_015631.6(TCTN3):c.970-2A>GLikely pathogenic
Orofacial-digital syndrome IV;Joubert syndrome 18
β
βββ2026
NM_015631.6(TCTN3):c.662G>A (p.Trp221Ter)Pathogenic
Joubert syndrome 18;Orofacial-digital syndrome IV
β
βββ2025β Residue 221