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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TUBA1A
(Y408* +1 more)
Single nucleotide variant
(nonsense)
Tubulinopathy
+1 more
GConflicting classifications of pathogenicity
TUBA1A
(R390H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
TUBA1A
(E386K +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
TUBA1A
(R338G +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
(E255D +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
+1 more
GConflicting classifications of pathogenicity
TUBA1A
(R264H +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
+2 more
GConflicting classifications of pathogenicity
TUBA1A
(V235L +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
TUBA1A
(R214H +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
+3 more
GPathogenic/Likely pathogenic
TUBA1A
(S135C +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
TUBA1A
(C129R +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GUncertain significance
TUBA1A
(T56M +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+2 more
GPathogenic
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