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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OXCT1
Single nucleotide variant
(splice acceptor variant)
Succinyl-CoA acetoacetate transferase deficiency
GPathogenic
OXCT1
(G65R +1 more)
Single nucleotide variant
(missense variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
GLikely pathogenic
OXCT1
(R38C +1 more)
Single nucleotide variant
(missense variant +1 more)
Succinyl-CoA acetoacetate transferase deficiency
+3 more
GBenign/Likely benign
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