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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FAT2, SLC36A1
(N4113D)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia 45
GUncertain significance
FAT2, SLC36A1
(T3931M)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
FAT2, SLC36A1
(T3812I)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia 45
GUncertain significance
FAT2, SLC36A1
(I3371V)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia 45
+1 more
GConflicting classifications of pathogenicity
FAT2, SLC36A1
(G1261R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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