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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HADH
(D57E +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia
+1 more
GUncertain significance/Uncertain risk allele
HADH
Single nucleotide variant
(splice donor variant)
Hyperinsulinemic hypoglycemia, familial, 4
+2 more
GPathogenic/Likely pathogenic
HADH
(K129fs +1 more)
Insertion
(frameshift variant)
not provided
+2 more
GConflicting classifications of pathogenicity
HADH
(K136E +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia, familial, 4
GUncertain significance
HADH
(S200fs +1 more)
Deletion
(frameshift variant)
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
+1 more
GPathogenic/Likely pathogenic/Likely risk allele
HADH
(Y226H +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia, familial, 4
+1 more
GConflicting classifications of pathogenicity
HADH
(R236* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
HADH
(S246*)
Single nucleotide variant
(nonsense +1 more)
Hyperinsulinemic hypoglycemia, familial, 4
GUncertain significance
HADH
(G303S +2 more)
Single nucleotide variant
(missense variant)
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
+1 more
GUncertain significance
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