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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SNX14
(G837S +18 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive spinocerebellar ataxia 20
GUncertain significance
SNX14
(V410I +16 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive spinocerebellar ataxia 20
+1 more
GConflicting classifications of pathogenicity
SNX14
(R651W +16 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
SNX14
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive spinocerebellar ataxia 20
+1 more
GUncertain significance
SNX14
(P205T +11 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive spinocerebellar ataxia 20
GUncertain significance
SNX14
(T138N +9 more)
Single nucleotide variant
(missense variant +3 more)
not provided
+2 more
GUncertain significance
SNX14
Single nucleotide variant
(intron variant)
Autosomal recessive spinocerebellar ataxia 20
GUncertain significance
SNX14
(L44P)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive spinocerebellar ataxia 20
GUncertain significance
SNX14
(A40V)
Single nucleotide variant
(missense variant +3 more)
Autosomal recessive spinocerebellar ataxia 20
GUncertain significance
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