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Links from MedGen

Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TUBB2B
(M299V)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
GUncertain significance
TUBB2B
(Y208N)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
GLikely pathogenic
TUBB2B
(R282P)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
GLikely pathogenic
TUBB2B
(C211Y)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
GLikely pathogenic
TUBB2B
(Q8*)
Single nucleotide variant
(nonsense)
Complex cortical dysplasia with other brain malformations 7
GUncertain significance
TUBB2B
(V353M)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
Gnot provided
TUBB2B
(R380H)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
+1 more
GConflicting classifications of pathogenicity
TUBB2B
(D203H)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
GUncertain significance
TUBB2B
(S364L)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
GUncertain significance
TUBB2B
(P259L)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
+1 more
GPathogenic
TUBB2B
(C303Y)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
GLikely pathogenic
TUBB2B
(P173R)
Single nucleotide variant
Complex cortical dysplasia with other brain malformations 7
GLikely pathogenic
TUBB2B
(V60I)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
+1 more
GUncertain significance
TUBB2B
(N247K)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
+1 more
GUncertain significance
TUBB2B
(F408S)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
GUncertain significance
TUBB2B
(Q11R)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
+1 more
Gnot provided
TUBB2B
(R380C)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
+1 more
GPathogenic
TUBB2B
(G141S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TUBB2B
(M388L)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
GLikely pathogenic
TUBB2B
(A254E)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
GUncertain significance
TUBB2B
(E27D)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
GUncertain significance
TUBB2B
(P70T)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
GUncertain significance
TUBB2B
(N204I)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
GLikely pathogenic
TUBB2B
(C201F)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
GLikely pathogenic
TUBB2B
(R391H)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
+1 more
GPathogenic/Likely pathogenic
TUBB2B
(R2S)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
TUBB2B
(P357L)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
GLikely pathogenic
TUBB2B
(M164T)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
GUncertain significance
TUBB2B
(P243L)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
GUncertain significance
TUBB2B
(S172L)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
GLikely pathogenic
TUBB2B
(Q291K)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
GLikely pathogenic
TUBB2B
(Q11H)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
TUBB2B
(Q15K)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
+1 more
GUncertain significance
TUBB2B
(C239F)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
GPathogenic
TUBB2B
(G98R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TUBB2B
(S322F)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
GLikely pathogenic
TUBB2B
(P287S)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
GUncertain significance
TUBB2B
(G235R)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
+1 more
GConflicting classifications of pathogenicity
TUBB2B
(A185T)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
+1 more
GLikely benign
TUBB2B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TUBB2B
(L42F)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
GUncertain significance
TUBB2B
Single nucleotide variant
(synonymous variant)
Complex cortical dysplasia with other brain malformations 7
GUncertain significance
TUBB2B
(R380L)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
GLikely pathogenic
TUBB2B
Single nucleotide variant
(synonymous variant)
Complex cortical dysplasia with other brain malformations 7
GUncertain significance
TUBB2B
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
TUBB2B
(E421K)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
+1 more
GPathogenic/Likely pathogenic
TUBB2B
(L117P)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
TUBB2B
(N256S)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
GConflicting classifications of pathogenicity
TUBB2B
(D417N)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
GPathogenic
TUBB2B
(F265L)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
GPathogenic
TUBB2B
(L228P)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
GPathogenic
TUBB2B
(S172P)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 7
GPathogenic
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