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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MED12
(R961W)
Single nucleotide variant
(missense variant)
Intellectual disability
+6 more
GPathogenic/Likely pathogenic
MED12
(N1007S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic