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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OXCT1
(R438C +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely pathogenic
OXCT1
(A133T +3 more)
Single nucleotide variant
(missense variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GUncertain significance