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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GAREM2, HADHA
Single nucleotide variant
(synonymous variant)
Mitochondrial trifunctional protein deficiency
+2 more
GConflicting classifications of pathogenicity
HADHA, GAREM2
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic/Likely pathogenic
GAREM2, HADHA
Single nucleotide variant
(synonymous variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+3 more
GBenign/Likely benign
GAREM2, HADHA
(Q640*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
GAREM2, HADHA
(E510Q)
Single nucleotide variant
(missense variant)
HADHA-related disorder
+5 more
GPathogenic
HADHA, GAREM2
(A473D)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GAREM2, HADHA
(V412L)
Single nucleotide variant
(missense variant)
Mitochondrial trifunctional protein deficiency
+2 more
GUncertain significance
GAREM2, HADHA
Single nucleotide variant
(synonymous variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+2 more
GConflicting classifications of pathogenicity
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