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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HADH
(I70fs +1 more)
Duplication
(frameshift variant)
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
+1 more
GPathogenic/Likely pathogenic
HADH
(R236* +1 more)
Single nucleotide variant
(nonsense)
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
+2 more
GPathogenic/Likely pathogenic