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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CPT2
(S113L)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+7 more
GPathogenic/Likely pathogenic
CPT2
(C326Y)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CPT2
(P548R +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
GUncertain significance
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