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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLE1, LOC101929270
(S465T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GLE1, LOC101929270
Single nucleotide variant
(synonymous variant)
Lethal arthrogryposis-anterior horn cell disease syndrome
+2 more
GConflicting classifications of pathogenicity