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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
L1CAM
(G370R +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+3 more
GPathogenic
ARHGAP4, ATP6AP1
+19 more
Copy number gain
Abnormal facial shape
+3 more
GPathogenic