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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ECHS1
(T180A)
Single nucleotide variant
(missense variant)
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
+1 more
GPathogenic/Likely pathogenic
ECHS1
(A173V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity