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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ECHS1
(R283G)
Single nucleotide variant
(missense variant)
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
GLikely pathogenic
ECHS1, LOC130005023
(A3V)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity