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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
XPR1
Single nucleotide variant
(synonymous variant +1 more)
Basal ganglia calcification, idiopathic, 6
+1 more
GUncertain significance
XPR1
(R539Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Basal ganglia calcification, idiopathic, 6
+1 more
GUncertain significance