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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130003010, PMPCA
Single nucleotide variant
(intron variant)
Autosomal recessive spinocerebellar ataxia 2
GUncertain significance
PMPCA
(V236M +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance