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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACADM
(R53H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ACADM
(T121I +3 more)
Single nucleotide variant
(missense variant +1 more)
ACADM-related disorder
+2 more
GPathogenic/Likely pathogenic
ACADM
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
ACADM
(R210C +3 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GPathogenic/Likely pathogenic
ACADM
Single nucleotide variant
(intron variant)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
GConflicting classifications of pathogenicity
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