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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MED12
(G216V)
Single nucleotide variant
(missense variant)
Intellectual disability
GUncertain significance
MED12
(R1733Q)
Single nucleotide variant
(missense variant)
Intellectual disability
+2 more
GConflicting classifications of pathogenicity
MED12
(P1972L)
Single nucleotide variant
(missense variant)
Intellectual disability
GUncertain significance
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