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Items: 1 to 100 of 372

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130008916, LOC130008917
+4836 more
Copy number gain
See cases
GPathogenic
TUBA1A
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
TUBA1A
Deletion
(no sequence alteration)
not provided
+1 more
GLikely benign
TUBA1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBA1A
(G413fs +1 more)
Deletion
(frameshift variant)
Tubulinopathy
GLikely pathogenic
TUBA1A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TUBA1A
(G436D +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GPathogenic/Likely pathogenic
TUBA1A
(G436R +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
GPathogenic
TUBA1A
(V435A +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GLikely pathogenic
TUBA1A
(E434del +1 more)
Microsatellite
(inframe_deletion)
Inborn genetic diseases
+1 more
GUncertain significance
TUBA1A
Deletion
(inframe_deletion)
Lissencephaly due to TUBA1A mutation
GPathogenic
TUBA1A
(D431N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA1A
(E429Q +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
GPathogenic
TUBA1A
(L393H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA1A
(A426T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA1A
(M425K +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GPathogenic/Likely pathogenic
TUBA1A
(E388G +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
TUBA1A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TUBA1A
(R422H +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+2 more
GPathogenic
TUBA1A
(R387S +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy-associated dysgyria
GPathogenic
TUBA1A
(R422C +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+3 more
GPathogenic
TUBA1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBA1A
(A386T +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
TUBA1A
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
TUBA1A
(S419L +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+2 more
GPathogenic/Likely pathogenic
TUBA1A
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
TUBA1A
(G416D +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GUncertain significance
TUBA1A
(G416S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
TUBA1A
(M378I +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
TUBA1A
(M378L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA1A
(E411G +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GUncertain significance
TUBA1A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
TUBA1A
Single nucleotide variant
(synonymous variant)
TUBA1A-related disorder
+2 more
GLikely benign
TUBA1A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
TUBA1A
(V409A +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
+2 more
GPathogenic/Likely pathogenic
TUBA1A
(V374F +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly type 3
GPathogenic
TUBA1A
(V409I +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
+2 more
GConflicting classifications of pathogenicity
TUBA1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBA1A
(Y408* +1 more)
Single nucleotide variant
(nonsense)
Lissencephaly due to TUBA1A mutation
+1 more
GConflicting classifications of pathogenicity
TUBA1A
(Y373D +1 more)
Single nucleotide variant
(missense variant)
Recurrent hand flapping
GUncertain significance
TUBA1A
(H371Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
TUBA1A
(H371D +1 more)
Single nucleotide variant
(missense variant)
Congenital fibrosis of extraocular muscles
+1 more
GPathogenic
TUBA1A
(R402L +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GPathogenic
TUBA1A
(R402H +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+3 more
GPathogenic
TUBA1A
(R367G +1 more)
Single nucleotide variant
(missense variant)
TUBA1A-related disorder
GUncertain significance
TUBA1A
(R402C +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+3 more
GPathogenic/Likely pathogenic
TUBA1A
(R402S +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GLikely pathogenic
TUBA1A
Single nucleotide variant
(synonymous variant)
not specified
GBenign
TUBA1A
(M363R +1 more)
Single nucleotide variant
(missense variant)
Congenital fibrosis of extraocular muscles
+2 more
GConflicting classifications of pathogenicity
TUBA1A
(L397P +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
+1 more
GPathogenic
TUBA1A
(D396Y +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
GPathogenic
TUBA1A
(K359N +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GUncertain significance
TUBA1A
(K359R +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
TUBA1A
(H393Y +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
GPathogenic
TUBA1A
(R390H +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
+2 more
GPathogenic
TUBA1A
(R390P +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
+2 more
GPathogenic/Likely pathogenic
TUBA1A
(R390G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TUBA1A
(R390C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
TUBA1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBA1A
(A387V +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
GPathogenic
TUBA1A
(E386K +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
TUBA1A
(A350V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA1A
(I384N +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
Gnot provided
TUBA1A
(A383D +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TUBA1A
(A383V +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GPathogenic/Likely pathogenic
TUBA1A
(T382A +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GLikely pathogenic
TUBA1A
(S344N +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly type 3
GUncertain significance
TUBA1A
(M377V +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GLikely pathogenic
TUBA1A
(C341Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA1A
(R338G +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GUncertain significance
TUBA1A
(V371E +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
GPathogenic
TUBA1A
(A369T +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
+2 more
GPathogenic/Likely pathogenic
TUBA1A
(G366R +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GPathogenic/Likely pathogenic
TUBA1A
(P364R +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GLikely pathogenic
TUBA1A
(V327L +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
TUBA1A
(T361I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TUBA1A
(T361A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA1A
(P325S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA1A
(P359L +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GPathogenic/Likely pathogenic
TUBA1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBA1A
(Y322C +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GUncertain significance
TUBA1A
(I320V +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
TUBA1A
(V353I +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
GLikely pathogenic
TUBA1A
(K317N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA1A
(K352M +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GLikely pathogenic
TUBA1A
(G350V +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy-associated dysgyria
+1 more
GPathogenic/Likely pathogenic
TUBA1A
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
TUBA1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBA1A
(Q342P +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GLikely pathogenic
TUBA1A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBA1A
(K303M +1 more)
Single nucleotide variant
(missense variant)
TUBA1A-related disorder
GLikely pathogenic
TUBA1A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
TUBA1A
(A333V +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
GPathogenic
TUBA1A
(I332T +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GLikely pathogenic
TUBA1A
(A331T +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GUncertain significance
TUBA1A
(N329S +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GPathogenic
TUBA1A
(V293E +1 more)
Indel
(missense variant)
not provided
GUncertain significance
TUBA1A
(K326N +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
GPathogenic
TUBA1A
(V324L +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
+1 more
GLikely pathogenic
TUBA1A
(V288M +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy-associated dysgyria
+1 more
GConflicting classifications of pathogenicity
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