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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EIF2S3
(S108R)
Single nucleotide variant
(missense variant)
MEHMO syndrome
GUncertain significance
EIF2S3
(I465fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic