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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD14A-ACY1, ACY1
(A271T +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ABHD14A-ACY1, ACY1
(R353C +4 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
ABHD14A-ACY1, ACY1
(R393H +4 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
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