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Links from MedGen

Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TUBB3
(S115L +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 1
GUncertain significance
TUBB3
(R248C +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 1
GUncertain significance
TUBB3
(L117P +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 1
GUncertain significance
Single nucleotide variant
Complex cortical dysplasia with other brain malformations 1
GPathogenic
TUBB3
Single nucleotide variant
(intron variant)
Complex cortical dysplasia with other brain malformations 1
+1 more
Gnot provided
TUBB3
(R308S +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 1
GLikely pathogenic
TUBB3
(G376D +1 more)
Single nucleotide variant
(missense variant)
TUBB3-related disorder
+1 more
GUncertain significance
LOC130059847, TUBB3
(R2K)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TUBB3
(H105N +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 1
GLikely pathogenic
TUBB3
(R162C +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 1
GUncertain significance
TUBB3
(Q119del +1 more)
Deletion
(inframe_deletion)
Complex cortical dysplasia with other brain malformations 1
Gnot provided
TUBB3
(Y238C +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 1
GLikely pathogenic
TUBB3
(V170M +1 more)
Single nucleotide variant
(missense variant)
Congenital fibrosis of extraocular muscles type 1
+3 more
Gnot provided
TUBB2B
(Q11R)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
+1 more
Gnot provided
TUBB3
(R237C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TUBB3
(R308P +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 1
GLikely pathogenic
TUBB3
(V60L)
Single nucleotide variant
(5 prime UTR variant +1 more)
Complex cortical dysplasia with other brain malformations 1
GLikely pathogenic
TUBB3
(T240M +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 1
+1 more
GConflicting classifications of pathogenicity
TUBB3
(G197S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TUBB3
(T149M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TUBB3
(V121M +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 1
GPathogenic
TUBB3
(E216A +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 1
GLikely pathogenic
TUBB2B
(G369C)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 1
GUncertain significance
TUBB3
(R46W)
Single nucleotide variant
(5 prime UTR variant +1 more)
Complex cortical dysplasia with other brain malformations 1
+3 more
GConflicting classifications of pathogenicity
TUBB3
(G142S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TUBB3
(E216K +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 1
+1 more
GPathogenic/Likely pathogenic
TUBB3
(E256K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TUBB3
(V183I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TUBB3
(S230L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TUBB3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBB3
(T106M +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
TUBB3
(M388V +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 1
+1 more
GPathogenic/Likely pathogenic
TUBB3
(R308C +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
TUBB3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TUBB3
Single nucleotide variant
(synonymous variant)
Complex cortical dysplasia with other brain malformations 1
GUncertain significance
TUBB3
(N175S +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 1
GUncertain significance
TUBB3
(P171L +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 1
+2 more
GConflicting classifications of pathogenicity
TUBB3
(G26S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TUBB3
Single nucleotide variant
(intron variant)
Complex cortical dysplasia with other brain malformations 1
+1 more
GConflicting classifications of pathogenicity
TUBB3
Single nucleotide variant
(synonymous variant)
Complex cortical dysplasia with other brain malformations 1
GUncertain significance
TUBB3
(A302V +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 1
GPathogenic
TUBB3
(E205K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
TUBB3
(M323V +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
TUBB3
(E410K +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
TUBB3
(D417N +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
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