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Links from MedGen

Items: 85

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TCTN2
(P87S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
TCTN2
(A526T +1 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+3 more
GUncertain significance
TCTN2
(P116S +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 8
+2 more
GUncertain significance
TCTN2
(W389C +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 8
GUncertain significance
TCTN2
(R330* +1 more)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+3 more
GPathogenic/Likely pathogenic
TCTN2
(Q617* +1 more)
Single nucleotide variant
(nonsense)
Joubert syndrome 24
GPathogenic
TCTN2
Single nucleotide variant
(3 prime UTR variant)
Joubert syndrome 24
+1 more
GUncertain significance
TCTN2
Single nucleotide variant
(3 prime UTR variant)
Joubert syndrome 24
+1 more
GUncertain significance
TCTN2
(P649L +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 24
+3 more
GUncertain significance
TCTN2
(L423V +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 8
+2 more
GUncertain significance
TCTN2
(T223K +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 24
+1 more
GUncertain significance
TCTN2
(R96G +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 8
+2 more
GUncertain significance
TCTN2
Single nucleotide variant
(intron variant)
Joubert syndrome 24
+3 more
GUncertain significance
TCTN2
Single nucleotide variant
(3 prime UTR variant)
Joubert syndrome 24
+1 more
GUncertain significance
TCTN2
Single nucleotide variant
(3 prime UTR variant)
Joubert syndrome 24
+1 more
GUncertain significance
TCTN2
Single nucleotide variant
(synonymous variant)
Meckel syndrome, type 8
+1 more
GUncertain significance
TCTN2
(Q303L +1 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+3 more
GUncertain significance
TCTN2
(D26Y)
Single nucleotide variant
(missense variant)
Joubert syndrome 24
+3 more
GUncertain significance
TCTN2
Single nucleotide variant
(3 prime UTR variant)
Joubert syndrome 24
+1 more
GUncertain significance
TCTN2
(R566C +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 24
+3 more
GUncertain significance
TCTN2
Single nucleotide variant
(synonymous variant)
Joubert syndrome 24
+3 more
GConflicting classifications of pathogenicity
TCTN2
(D524H +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 24
+1 more
GUncertain significance
TCTN2
Single nucleotide variant
(3 prime UTR variant)
Joubert syndrome 24
+1 more
GUncertain significance
TCTN2
Single nucleotide variant
(3 prime UTR variant)
Joubert syndrome 24
+1 more
GUncertain significance
TCTN2
Single nucleotide variant
(3 prime UTR variant)
Joubert syndrome 24
+1 more
GUncertain significance
TCTN2
Single nucleotide variant
(intron variant)
Joubert syndrome 24
+1 more
GUncertain significance
TCTN2
Single nucleotide variant
(intron variant)
Joubert syndrome 24
+1 more
GUncertain significance
TCTN2
Single nucleotide variant
(synonymous variant)
Joubert syndrome 24
+3 more
GConflicting classifications of pathogenicity
TCTN2
(Y265H +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 24
+3 more
GUncertain significance
TCTN2
(Y250C +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 24
+1 more
GUncertain significance
TCTN2
(V164L +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 24
+1 more
GUncertain significance
TCTN2
Single nucleotide variant
(intron variant)
Joubert syndrome 24
+1 more
GUncertain significance
TCTN2
(G100C +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 8
+3 more
GUncertain significance
TCTN2
(H383Y +1 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+3 more
GConflicting classifications of pathogenicity
ATP6V0A2, TCTN2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa, recessive
+3 more
GBenign/Likely benign
TCTN2
Single nucleotide variant
(3 prime UTR variant)
Joubert syndrome 24
+1 more
GUncertain significance
ATP6V0A2, TCTN2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa, recessive
+2 more
GBenign
ATP6V0A2, TCTN2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa, recessive
+2 more
GBenign/Likely benign
TCTN2
Single nucleotide variant
(3 prime UTR variant)
Meckel syndrome, type 8
+1 more
GUncertain significance
TCTN2
Single nucleotide variant
(3 prime UTR variant)
Joubert syndrome 24
+1 more
GUncertain significance
ATP6V0A2, TCTN2
Single nucleotide variant
(3 prime UTR variant)
Meckel syndrome, type 8
+3 more
GBenign
ATP6V0A2, TCTN2
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
ATP6V0A2, TCTN2
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa, recessive
+5 more
GConflicting classifications of pathogenicity
TCTN2
(P629R +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 24
+1 more
GUncertain significance
TCTN2
Single nucleotide variant
(synonymous variant)
Familial aplasia of the vermis
+3 more
GConflicting classifications of pathogenicity
TCTN2
(H606Q +1 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+3 more
GUncertain significance
TCTN2
(S571L +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 24
+3 more
GUncertain significance
TCTN2
(V298L +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 24
+1 more
GUncertain significance
TCTN2
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TCTN2
(P296L +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 24
+3 more
GUncertain significance
TCTN2
Single nucleotide variant
(synonymous variant)
Joubert syndrome 24
+1 more
GUncertain significance
TCTN2
(Q259R +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 8
+4 more
GConflicting classifications of pathogenicity
TCTN2
(R226H +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 8
+3 more
GUncertain significance
TCTN2
(N212S +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 8
+4 more
GConflicting classifications of pathogenicity
TCTN2
Single nucleotide variant
(synonymous variant)
Meckel syndrome, type 8
+4 more
GConflicting classifications of pathogenicity
TCTN2
(S191A +1 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+4 more
GConflicting classifications of pathogenicity
TCTN2
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
+4 more
GConflicting classifications of pathogenicity
TCTN2
(L175V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
TCTN2
(P167L +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 24
+3 more
GUncertain significance
TCTN2
(I68V)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 8
+5 more
GConflicting classifications of pathogenicity
TCTN2
Single nucleotide variant
(5 prime UTR variant)
Joubert syndrome 24
+1 more
GUncertain significance
TCTN2
Single nucleotide variant
(5 prime UTR variant)
Meckel syndrome, type 8
+2 more
GBenign/Likely benign
TCTN2
Single nucleotide variant
(5 prime UTR variant)
Joubert syndrome 24
+2 more
GBenign
TCTN2
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
TCTN2
Single nucleotide variant
(intron variant)
Meckel-Gruber syndrome
+4 more
GConflicting classifications of pathogenicity
TCTN2
(G373R +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 24
+2 more
GConflicting classifications of pathogenicity
TCTN2
(L234fs +1 more)
Deletion
(frameshift variant)
Joubert syndrome 24
+5 more
GPathogenic/Likely pathogenic
TCTN2
(T223M +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 8
+6 more
GUncertain significance
TCTN2
(V46fs)
Duplication
(frameshift variant)
Meckel syndrome, type 8
GPathogenic
TCTN2
Single nucleotide variant
(synonymous variant)
Meckel syndrome, type 8
+5 more
GConflicting classifications of pathogenicity
TCTN2
Single nucleotide variant
(synonymous variant)
Joubert syndrome 24
+5 more
GConflicting classifications of pathogenicity
TCTN2
Single nucleotide variant
(synonymous variant)
Familial aplasia of the vermis
+5 more
GConflicting classifications of pathogenicity
TCTN2
Single nucleotide variant
(synonymous variant)
Meckel-Gruber syndrome
+4 more
GBenign/Likely benign
TCTN2
Single nucleotide variant
(intron variant)
Joubert syndrome 24
+4 more
GBenign
TCTN2
Single nucleotide variant
(intron variant)
Joubert syndrome 24
+3 more
GBenign
TCTN2
Single nucleotide variant
(synonymous variant)
Meckel-Gruber syndrome
+4 more
GBenign
TCTN2
Single nucleotide variant
(intron variant)
Meckel-Gruber syndrome
+4 more
GBenign
TCTN2
Single nucleotide variant
(synonymous variant)
Meckel-Gruber syndrome
+4 more
GBenign/Likely benign
TCTN2
(R200Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
TCTN2
Single nucleotide variant
(synonymous variant)
Meckel-Gruber syndrome
+4 more
GBenign
ATP6V0A2, TCTN2
Single nucleotide variant
(synonymous variant)
Meckel-Gruber syndrome
+5 more
GBenign/Likely benign
TCTN2
Single nucleotide variant
(intron variant)
Joubert syndrome 24
+4 more
GBenign
TCTN2
Single nucleotide variant
(synonymous variant)
Joubert syndrome 24
+4 more
GBenign
TCTN2
Single nucleotide variant
(intron variant)
Meckel-Gruber syndrome
+4 more
GBenign
TCTN2
Single nucleotide variant
(splice acceptor variant)
Joubert syndrome 24
+6 more
GPathogenic/Likely pathogenic
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