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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACOT4, HEATR4
(A189D)
Single nucleotide variant
(missense variant)
Intellectual disability
GUncertain significance
ACOT4, HEATR4
Single nucleotide variant
(synonymous variant)
Intellectual disability
GUncertain significance
ACOT4, HEATR4
(Y190C)
Single nucleotide variant
(missense variant)
Intellectual disability
GUncertain significance
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