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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TUBB
(A54V +1 more)
Single nucleotide variant
(missense variant +3 more)
Complex cortical dysplasia with other brain malformations 6
+1 more
GUncertain significance
TUBB
(G102R +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
TUBB
(Y220C +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TUBB
(M195I +3 more)
Single nucleotide variant
(missense variant +1 more)
Multiple benign circumferential skin creases on limbs 1
+1 more
GUncertain significance
TUBB
(P287L +3 more)
Single nucleotide variant
(missense variant +1 more)
Complex cortical dysplasia with other brain malformations 6
+3 more
GConflicting classifications of pathogenicity
ERVH-3, ETV7
+427 more
Copy number gain
not provided
GPathogenic
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