U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 59

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TCTN1
Single nucleotide variant
(splice donor variant)
Joubert syndrome 13
GLikely pathogenic
TCTN1
(P407L +6 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+2 more
GUncertain significance
TCTN1
(S128fs +2 more)
Duplication
(frameshift variant +2 more)
Joubert syndrome 13
GPathogenic
TCTN1
(A15V +2 more)
Single nucleotide variant
(missense variant +2 more)
Joubert syndrome 13
GUncertain significance
TCTN1
(S134fs +3 more)
Deletion
(frameshift variant +1 more)
Joubert syndrome 13
GLikely pathogenic
TCTN1
(K186* +3 more)
Single nucleotide variant
(nonsense +2 more)
Familial aplasia of the vermis
+2 more
GPathogenic
TCTN1
(R414W +3 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 13
+3 more
GUncertain significance
TCTN1
Single nucleotide variant
(splice donor variant)
Meckel-Gruber syndrome
+1 more
GLikely pathogenic
TCTN1
(W285fs +5 more)
Duplication
(frameshift variant +1 more)
Joubert syndrome 13
GPathogenic
TCTN1
Deletion
(inframe_deletion +2 more)
not specified
+1 more
GUncertain significance
TCTN1
Single nucleotide variant
(splice donor variant)
Familial aplasia of the vermis
+3 more
GLikely pathogenic
TCTN1
(V11fs)
Duplication
(frameshift variant +2 more)
Joubert syndrome 13
GPathogenic
TCTN1
(V371I +3 more)
Single nucleotide variant
(missense variant +1 more)
Meckel-Gruber syndrome
+2 more
GUncertain significance
TCTN1
(G59D +2 more)
Single nucleotide variant
(missense variant +2 more)
Joubert syndrome 13
GUncertain significance
TCTN1
(G59S +2 more)
Single nucleotide variant
(missense variant +2 more)
Joubert syndrome 13
GUncertain significance
TCTN1
(F379S +6 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 13
+2 more
GUncertain significance
TCTN1
(G378D +3 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 13
GUncertain significance
TCTN1
(L246P +3 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 13
+2 more
GUncertain significance
TCTN1
Single nucleotide variant
(synonymous variant)
Joubert syndrome 13
GUncertain significance
TCTN1
(L259R +4 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 13
+3 more
GUncertain significance
TCTN1
(S212G +3 more)
Single nucleotide variant
(missense variant +2 more)
Meckel-Gruber syndrome
+2 more
GUncertain significance
TCTN1
(A87G +3 more)
Single nucleotide variant
(missense variant +2 more)
Joubert syndrome 13
GUncertain significance
TCTN1
(T159N +3 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+2 more
GUncertain significance
TCTN1
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 13
GUncertain significance
TCTN1
(W429* +5 more)
Single nucleotide variant
(nonsense +1 more)
Joubert syndrome 13
GPathogenic
TCTN1
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 13
+2 more
GLikely benign
TCTN1
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 13
+2 more
GConflicting classifications of pathogenicity
TCTN1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TCTN1
(G377R +4 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 13
GUncertain significance
TCTN1
(L230P +3 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 13
GUncertain significance
TCTN1
(P295fs +5 more)
Deletion
(frameshift variant +1 more)
TCTN1-related disorder
+4 more
GConflicting classifications of pathogenicity
TCTN1
(V417L +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
TCTN1
(W449R +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GBenign/Likely benign
TCTN1
(A559V +6 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+3 more
GUncertain significance
TCTN1
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 13
+2 more
GConflicting classifications of pathogenicity
TCTN1
Single nucleotide variant
(synonymous variant +1 more)
Meckel-Gruber syndrome
+4 more
GConflicting classifications of pathogenicity
TCTN1
(Y192N +3 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+2 more
GUncertain significance
TCTN1
(Q122K +2 more)
Single nucleotide variant
(missense variant +2 more)
Joubert syndrome 13
GUncertain significance
TCTN1
Single nucleotide variant
(synonymous variant +2 more)
Joubert syndrome 13
+3 more
GBenign/Likely benign
TCTN1
(V71I)
Single nucleotide variant
(missense variant +2 more)
Joubert syndrome 13
+3 more
GUncertain significance
TCTN1
(G5D)
Single nucleotide variant
(missense variant +2 more)
Joubert syndrome 13
+2 more
GUncertain significance
TCTN1
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 13
+1 more
GLikely benign
TCTN1
Single nucleotide variant
Joubert syndrome 13
GUncertain significance
TCTN1
Single nucleotide variant
Joubert syndrome 13
GUncertain significance
TCTN1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TCTN1
(V100M +2 more)
Single nucleotide variant
(missense variant +2 more)
Joubert syndrome 13
+5 more
GConflicting classifications of pathogenicity
TCTN1
(R300* +4 more)
Single nucleotide variant
(nonsense +1 more)
Familial aplasia of the vermis
+1 more
GPathogenic
TCTN1
Deletion
(splice donor variant)
Joubert syndrome 13
GPathogenic
TCTN1
(V298I +4 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+3 more
GUncertain significance
TCTN1
(S163Y +2 more)
Single nucleotide variant
(missense variant +2 more)
Familial aplasia of the vermis
+3 more
GBenign/Likely benign
TCTN1
(I477F +5 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+4 more
GConflicting classifications of pathogenicity
TCTN1
Single nucleotide variant
(splice acceptor variant)
Joubert syndrome 13
GPathogenic
TCTN1
(A300T +4 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 13
+2 more
GConflicting classifications of pathogenicity
TCTN1
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 13
+3 more
GBenign
TCTN1
Single nucleotide variant
(intron variant)
Joubert syndrome 13
+3 more
GBenign
LOC130008755, TCTN1
(M1I)
Single nucleotide variant
(missense variant +3 more)
Joubert syndrome 13
+4 more
GBenign/Likely benign
TCTN1
(G452C +5 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 13
+3 more
GBenign
TCTN1
(I398V +3 more)
Single nucleotide variant
(missense variant +1 more)
Meckel-Gruber syndrome
+4 more
GBenign/Likely benign
TCTN1
Single nucleotide variant
(splice acceptor variant)
Joubert syndrome 13
GPathogenic
Format
Items per page
Sort by
Choose Destination