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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTOR
(E1799K)
Single nucleotide variant
(missense variant)
CEBALID syndrome
+5 more
GPathogenic
MTOR
(A38T)
Single nucleotide variant
(missense variant)
not provided
GBenign