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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CPT1A, LOC126861244
(E412K)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase 1A deficiency
GLikely pathogenic
CPT1A
(S106N)
Single nucleotide variant
(missense variant)
Carnitine palmitoyl transferase 1A deficiency
+1 more
GConflicting classifications of pathogenicity