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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HADHA
(S92fs)
Deletion
(frameshift variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+3 more
GPathogenic/Likely pathogenic
HADHA
Single nucleotide variant
(intron variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
GUncertain significance