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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PUM1
(R1010* +1 more)
Single nucleotide variant
(nonsense)
Spinocerebellar ataxia 47
GPathogenic
PUM1
(A482T)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia 47
GUncertain significance
PUM1
(N317H)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia 47
+1 more
GUncertain significance
PUM1
(S17F)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia 47
GUncertain significance
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