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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HMGCS2
(R112W)
Single nucleotide variant
(missense variant)
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
GConflicting classifications of pathogenicity
HMGCS2
(V61fs)
Insertion
(frameshift variant)
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
GPathogenic/Likely pathogenic