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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AFG3L2, TUBB6
(R783W)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 28
+1 more
GUncertain significance
AFG3L2
(I705T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AFG3L2
(E428D)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
GUncertain significance
AFG3L2
(V212I)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
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