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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDGFRB
(R987W +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDGFRB
(L658P +2 more)
Single nucleotide variant
(missense variant)
Basal ganglia calcification, idiopathic, 4
GPathogenic