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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MED12
(R91L)
Single nucleotide variant
(missense variant)
Blepharophimosis - intellectual disability syndrome, MKB type
+2 more
GUncertain significance
MED12
(R961W)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic/Likely pathogenic