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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CPT2
(S113L)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase II deficiency, neonatal form
+7 more
GPathogenic/Likely pathogenic
CPT2
(R193C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity