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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TUBA1A
(S419L +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+2 more
GPathogenic/Likely pathogenic
TUBA1A
(R390C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
TUBA1A
(G350V +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy-associated dysgyria
+1 more
GPathogenic/Likely pathogenic
TUBA1A
(I199S +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GPathogenic
TUBA1A
(R186G +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GUncertain significance
TUBA1A
(D218N +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy-associated dysgyria
+4 more
GConflicting classifications of pathogenicity
TUBA1A
Deletion
(inframe_indel)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
TUBA1A
(Q141L +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GUncertain significance
TUBA1A
(A174V +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy-associated dysgyria
+5 more
GConflicting classifications of pathogenicity
TUBA1A
(G113R +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GUncertain significance
TUBA1A
(R44H +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
+1 more
GPathogenic/Likely pathogenic
TUBA1A
(H28Y)
Single nucleotide variant
(missense variant +1 more)
Tubulinopathy
+2 more
GConflicting classifications of pathogenicity
TUBA1A
(I16T)
Single nucleotide variant
(missense variant +1 more)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
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