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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
L1CAM
(P1243S +2 more)
Single nucleotide variant
(missense variant)
X-linked complicated corpus callosum dysgenesis
GUncertain significance
L1CAM
(P240L +1 more)
Single nucleotide variant
(missense variant)
MASA syndrome
+5 more
GPathogenic/Likely pathogenic
L1CAM
(D202N +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
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