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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CPT2
(F352C)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 4
+6 more
GBenign/Likely benign
CPT2
(M647V +1 more)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+4 more
GBenign