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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACACA
(P2214H +3 more)
Single nucleotide variant
(missense variant)
Acetyl-CoA: carboxylase deficiency
GPathogenic/Likely pathogenic
ACACA
(R2083W +2 more)
Single nucleotide variant
(missense variant)
Acetyl-CoA: carboxylase deficiency
GPathogenic
ACACA
(A1542T +3 more)
Single nucleotide variant
(missense variant)
Acetyl-CoA: carboxylase deficiency
GPathogenic
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