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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTOR
(V571M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MTOR
(R132C)
Single nucleotide variant
(5 prime UTR variant +1 more)
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
+1 more
GUncertain significance