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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CPT2
(K414fs)
Deletion
(frameshift variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GPathogenic
CPT2
(F448L)
Single nucleotide variant
(missense variant)
Carnitine palmitoyltransferase II deficiency
+5 more
GConflicting classifications of pathogenicity; other