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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADD3
(N254S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADD3
(G367D +1 more)
Single nucleotide variant
(missense variant)
Cerebral palsy, spastic quadriplegic, 3
GPathogenic/Likely pathogenic
ADD3
(G380R +1 more)
Single nucleotide variant
(missense variant)
Cerebral palsy, spastic quadriplegic, 3
+1 more
GUncertain significance
ABLIM1, ABRAXAS2
+146 more
Copy number gain
not provided
GPathogenic
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