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Links from MedGen

Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TUBB2A
(D118E +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 5
GUncertain significance
TUBB2A
(Q207R +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 5
+1 more
GConflicting classifications of pathogenicity
TUBB2A
(N89S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TUBB2A
(S230L +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 5
+1 more
GPathogenic/Likely pathogenic
TUBB2A
(Y50H)
Single nucleotide variant
(missense variant +1 more)
Complex cortical dysplasia with other brain malformations 5
GLikely pathogenic
LOC129995635, TUBB2A
(R2H)
Single nucleotide variant
(missense variant +1 more)
Complex cortical dysplasia with other brain malformations 5
+1 more
GConflicting classifications of pathogenicity
TUBB2A
(Y225H +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 5
GUncertain significance
TUBB2A
(M238L +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 5
+1 more
GLikely pathogenic
TUBB2A
(P273T +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 5
GLikely pathogenic
TUBB2A
(P273L +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 5
GLikely pathogenic
TUBB2A
(T227M +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 5
+1 more
GUncertain significance
TUBB2A
(G13R +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 5
+1 more
GPathogenic/Likely pathogenic
TUBB2A
(F282L +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 5
GUncertain significance
TUBB2A
(A308V +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 5
GLikely pathogenic
TUBB2A
Single nucleotide variant
(synonymous variant +1 more)
Complex cortical dysplasia with other brain malformations 5
GUncertain significance
TUBB2A
(P243L +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 5
+1 more
GConflicting classifications of pathogenicity
TUBB2A
(R391C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
TUBB2A
(E194K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TUBB2A
(M388T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TUBB2A
(G98R +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+2 more
GPathogenic/Likely pathogenic
TUBB2A
(G132S +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 5
+1 more
GPathogenic/Likely pathogenic
TUBB2A
(R391H +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 5
+2 more
GConflicting classifications of pathogenicity
TUBB2A
Single nucleotide variant
(intron variant)
Complex cortical dysplasia with other brain malformations 5
+2 more
GBenign/Likely benign
TUBB2A
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
TUBB2A
(S201C +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 5
+2 more
GConflicting classifications of pathogenicity
TUBB2A
(A185T +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 5
+2 more
GBenign
TUBB2A
(Q291P +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TUBB2A
(I345F +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 5
+1 more
GPathogenic/Likely pathogenic
TUBB2A
(A248V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
TUBB2A
(N247K +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 5
GPathogenic
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