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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AFG3L2
(E700K)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
AFG3L2
(Y689N)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
Gnot provided
AFG3L2
(Y689H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
AFG3L2
(P688T)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
GLikely pathogenic
AFG3L2
(G671E)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
Gnot provided
AFG3L2
(G671R)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
GPathogenic
AFG3L2
(M666T)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
Gnot provided
AFG3L2
(M666R)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
GPathogenic
AFG3L2
(M666V)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
+3 more
GPathogenic/Likely pathogenic
AFG3L2
(T654fs)
Duplication
(frameshift variant)
Spinocerebellar ataxia type 28
Gnot provided
AFG3L2
(N432T)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 28
GPathogenic
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