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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LGI4
(R363W)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
GUncertain significance
LGI4
(E260fs)
Duplication
(frameshift variant)
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
GLikely pathogenic