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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130059554, MLYCD
(G3D)
Single nucleotide variant
(missense variant)
Deficiency of malonyl-CoA decarboxylase
GConflicting classifications of pathogenicity
LOC130059554, MLYCD
(Q31fs)
Deletion
(frameshift variant)
Deficiency of malonyl-CoA decarboxylase
GPathogenic
LOC130059554, MLYCD
(M40T)
Single nucleotide variant
(missense variant)
Deficiency of malonyl-CoA decarboxylase
GPathogenic
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