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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GAREM2, HADHA
(R732Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GAREM2, HADHA
(P711T)
Single nucleotide variant
(missense variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+4 more
GUncertain significance
GAREM2, HADHA
(F710Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GAREM2, HADHA
(V705I)
Single nucleotide variant
(missense variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+2 more
GUncertain significance
GAREM2, HADHA
(S654N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
HADHA, GAREM2
(I638V)
Single nucleotide variant
(missense variant)
Mitochondrial trifunctional protein deficiency
+2 more
GUncertain significance
HADHA, GAREM2
(H598fs)
Deletion
(frameshift variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+3 more
GPathogenic/Likely pathogenic
GAREM2, HADHA
(Y546C)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
GAREM2, HADHA
(E515Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GAREM2, HADHA
(E510Q)
Single nucleotide variant
(missense variant)
HADHA-related disorder
+5 more
GPathogenic
GAREM2, HADHA
(K489E)
Single nucleotide variant
(missense variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+2 more
GConflicting classifications of pathogenicity
GAREM2, HADHA
(A485S)
Single nucleotide variant
(missense variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+3 more
GUncertain significance
GAREM2, HADHA
(R399Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GAREM2, HADHA
(K390*)
Duplication
(nonsense)
Mitochondrial trifunctional protein deficiency
+2 more
GPathogenic/Likely pathogenic
GAREM2, HADHA
(V381M)
Single nucleotide variant
(missense variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+2 more
GConflicting classifications of pathogenicity
GAREM2, HADHA
(A377T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
HADHA
(K351del)
Microsatellite
(inframe deletion)
not provided
GUncertain significance
HADHA
(A248V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
HADHA
(V218L)
Single nucleotide variant
(missense variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+3 more
GConflicting classifications of pathogenicity
HADHA
(R208C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HADHA
(A197S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
HADHA
(R187T)
Single nucleotide variant
(missense variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+2 more
GUncertain significance
HADHA
(K163E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HADHA
(M106V)
Single nucleotide variant
(missense variant)
Mitochondrial trifunctional protein deficiency
+2 more
GUncertain significance
HADHA
(A100G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HADHA
(L19R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HADHA
(A6P)
Single nucleotide variant
(missense variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+2 more
GUncertain significance
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