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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD14A-ACY1, ACY1
(R109G +2 more)
Single nucleotide variant
(missense variant +1 more)
Aminoacylase 1 deficiency
GUncertain significance
ABHD14A-ACY1, ACY1
(R281H +4 more)
Single nucleotide variant
(missense variant)
Aminoacylase 1 deficiency
GUncertain significance