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Links from MedGen

Items: 1 to 100 of 422

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TCTN3
(V206fs +1 more)
Duplication
(frameshift variant)
Joubert syndrome 18
+1 more
GPathogenic
TCTN3
(T606A +3 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 18
+1 more
GUncertain significance
TCTN3
Deletion
(intron variant)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3
Single nucleotide variant
(synonymous variant)
Joubert syndrome 18
+1 more
GLikely benign
LOC130004408, TCTN3
Single nucleotide variant
(synonymous variant)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3
(G124fs)
Deletion
(frameshift variant)
Joubert syndrome 18
+1 more
GPathogenic
TCTN3
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3
Single nucleotide variant
(synonymous variant)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3
(E425fs +2 more)
Duplication
(frameshift variant)
Joubert syndrome 18
+1 more
GPathogenic
LOC130004408, TCTN3
(M1K +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 18
+1 more
GPathogenic
TCTN3
Single nucleotide variant
(intron variant)
Joubert syndrome 18
+1 more
GLikely benign
LOC130004408, TCTN3
Single nucleotide variant
(synonymous variant)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3
Single nucleotide variant
(intron variant)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3
Single nucleotide variant
(intron variant +1 more)
Joubert syndrome 18
+1 more
GUncertain significance
TCTN3
Single nucleotide variant
(intron variant)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3
Single nucleotide variant
(splice acceptor variant)
Joubert syndrome 18
+1 more
GLikely pathogenic
TCTN3
Single nucleotide variant
(intron variant)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3, LOC130004408
Single nucleotide variant
(synonymous variant)
Joubert syndrome 18
+1 more
GLikely benign
LOC130004408, TCTN3
Single nucleotide variant
(intron variant)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3
Single nucleotide variant
(intron variant)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3
Single nucleotide variant
(intron variant)
Joubert syndrome 18
+1 more
GLikely benign
LOC130004408, TCTN3
Single nucleotide variant
(synonymous variant)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3
Single nucleotide variant
(splice acceptor variant)
Joubert syndrome 18
+1 more
GLikely pathogenic
TCTN3
Single nucleotide variant
(synonymous variant)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3
Single nucleotide variant
(synonymous variant)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3
Single nucleotide variant
(synonymous variant)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3
Single nucleotide variant
(synonymous variant)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3
(G440E +3 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 18
+1 more
GUncertain significance
TCTN3
Single nucleotide variant
(synonymous variant)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3
Single nucleotide variant
(intron variant)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3
Single nucleotide variant
(intron variant)
Joubert syndrome 18
+1 more
GLikely benign
LOC130004408, TCTN3
Single nucleotide variant
(synonymous variant)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3
Single nucleotide variant
(intron variant)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3
Single nucleotide variant
(intron variant)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3, LOC130004408
(Q28* +1 more)
Single nucleotide variant
(nonsense)
Joubert syndrome 18
+1 more
GPathogenic
TCTN3
Single nucleotide variant
(synonymous variant)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3
Single nucleotide variant
(synonymous variant)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3
(I398V +3 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 18
+1 more
GUncertain significance
TCTN3
Single nucleotide variant
(intron variant)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3
(L303F +1 more)
Single nucleotide variant
(missense variant +1 more)
Orofacial-digital syndrome IV
+1 more
GUncertain significance
ENTPD1, TCTN3
Duplication
Joubert syndrome 18
+1 more
GUncertain significance
TCTN3
Single nucleotide variant
(intron variant)
Orofacial-digital syndrome IV
+1 more
GLikely benign
TCTN3
Single nucleotide variant
(synonymous variant)
Orofacial-digital syndrome IV
+1 more
GLikely benign
TCTN3
Deletion
(inframe_indel)
Orofacial-digital syndrome IV
+1 more
GUncertain significance
TCTN3
(L169fs +1 more)
Insertion
(frameshift variant)
Joubert syndrome 18
+1 more
GPathogenic
TCTN3
(K181fs +1 more)
Duplication
(frameshift variant)
Orofacial-digital syndrome IV
+1 more
GPathogenic
LOC130004408, TCTN3
(G19D +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 18
+1 more
GUncertain significance
TCTN3
(Q357fs)
Duplication
(frameshift variant +1 more)
Joubert syndrome 18
+1 more
GPathogenic
LOC130004408, TCTN3
(F34L +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 18
+1 more
GUncertain significance
TCTN3
Single nucleotide variant
(intron variant)
Orofacial-digital syndrome IV
+1 more
GLikely benign
LOC130004408, TCTN3
Single nucleotide variant
(synonymous variant)
Orofacial-digital syndrome IV
+1 more
GLikely benign
TCTN3
(G305R +2 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 18
+1 more
GUncertain significance
TCTN3
(K241fs +1 more)
Duplication
(frameshift variant)
Joubert syndrome 18
+1 more
GPathogenic
TCTN3
(P123T +1 more)
Single nucleotide variant
(missense variant)
Orofacial-digital syndrome IV
+1 more
GUncertain significance
TCTN3
Single nucleotide variant
(synonymous variant +1 more)
Orofacial-digital syndrome IV
+1 more
GLikely benign
LOC130004408, TCTN3
(L36S +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 18
+1 more
GUncertain significance
TCTN3
(Q495R +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
TCTN3
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 18
+2 more
GLikely benign
TCTN3
(W131C +1 more)
Single nucleotide variant
(missense variant)
Orofacial-digital syndrome IV
+1 more
GUncertain significance
TCTN3
Single nucleotide variant
(synonymous variant)
Orofacial-digital syndrome IV
+1 more
GLikely benign
TCTN3
(I479V +3 more)
Single nucleotide variant
(missense variant)
Orofacial-digital syndrome IV
+1 more
GUncertain significance
TCTN3
(V239G +3 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 18
+1 more
GUncertain significance
TCTN3
Single nucleotide variant
(synonymous variant)
Orofacial-digital syndrome IV
+1 more
GLikely benign
TCTN3
(P306R +3 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 18
+1 more
GUncertain significance
TCTN3
(F208L +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 18
+1 more
GUncertain significance
TCTN3
Single nucleotide variant
(intron variant)
Orofacial-digital syndrome IV
+2 more
GLikely benign
TCTN3
Single nucleotide variant
(synonymous variant)
Orofacial-digital syndrome IV
+1 more
GLikely benign
TCTN3
(S252N +2 more)
Single nucleotide variant
(missense variant)
Orofacial-digital syndrome IV
+1 more
GUncertain significance
TCTN3
(S380T +3 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 18
+1 more
GUncertain significance
LOC130004408, TCTN3
Single nucleotide variant
(synonymous variant)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3
(D415A +3 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 18
+1 more
GUncertain significance
LOC130004408, TCTN3
Single nucleotide variant
(synonymous variant)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3
Single nucleotide variant
(intron variant)
Joubert syndrome 18
+1 more
GUncertain significance
TCTN3
(R539Q +3 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 18
+1 more
GUncertain significance
TCTN3
(K437N +3 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 18
+1 more
GUncertain significance
TCTN3
(H332Y +3 more)
Single nucleotide variant
(missense variant)
Orofacial-digital syndrome IV
+1 more
GUncertain significance
TCTN3
(V588I +3 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 18
+1 more
GUncertain significance
TCTN3
Single nucleotide variant
(synonymous variant)
Orofacial-digital syndrome IV
+1 more
GUncertain significance
TCTN3
Single nucleotide variant
(synonymous variant)
Orofacial-digital syndrome IV
+1 more
GLikely benign
TCTN3
(I242V +1 more)
Single nucleotide variant
(missense variant +1 more)
Orofacial-digital syndrome IV
+1 more
GUncertain significance
LOC130004408, TCTN3
(V104F +1 more)
Single nucleotide variant
(missense variant)
Orofacial-digital syndrome IV
+1 more
GUncertain significance
TCTN3
Single nucleotide variant
(synonymous variant)
Orofacial-digital syndrome IV
+1 more
GLikely benign
TCTN3
(V138fs)
Deletion
(frameshift variant)
Joubert syndrome 18
+1 more
GPathogenic
LOC130004408, TCTN3
Single nucleotide variant
(synonymous variant)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3
Single nucleotide variant
(intron variant)
Joubert syndrome 18
+1 more
GLikely benign
LOC130004408, TCTN3
(A31E +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 18
+1 more
GUncertain significance
TCTN3
Single nucleotide variant
(synonymous variant)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3
(T403fs +1 more)
Duplication
(frameshift variant)
Orofacial-digital syndrome IV
+1 more
GPathogenic
TCTN3
(G305A +2 more)
Single nucleotide variant
(missense variant +1 more)
Orofacial-digital syndrome IV
+1 more
GUncertain significance
LOC130004408, TCTN3
(P82L +1 more)
Single nucleotide variant
(missense variant)
Orofacial-digital syndrome IV
+1 more
GUncertain significance
LOC130004408, TCTN3
(T34K +1 more)
Single nucleotide variant
(missense variant)
Orofacial-digital syndrome IV
+1 more
GUncertain significance
LOC130004408, TCTN3
(R39W +1 more)
Single nucleotide variant
(missense variant)
Orofacial-digital syndrome IV
+1 more
GUncertain significance
TCTN3
(S265fs +1 more)
Duplication
(frameshift variant)
Joubert syndrome 18
+1 more
GPathogenic
TCTN3
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3
Single nucleotide variant
(intron variant)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3
Single nucleotide variant
(synonymous variant)
Joubert syndrome 18
+1 more
GLikely benign
TCTN3
(F539del +3 more)
Microsatellite
(inframe_deletion +1 more)
Joubert syndrome 18
+1 more
GUncertain significance
TCTN3
Single nucleotide variant
(intron variant)
Orofacial-digital syndrome IV
+1 more
GLikely benign
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