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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CPT1A
(K200E)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase 1A deficiency
+2 more
GConflicting classifications of pathogenicity
CPT1A
(Y186C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance