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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HADH, LOC129992931
Deletion
Hyperinsulinemic hypoglycemia, familial, 4
+3 more
GUncertain significance/Uncertain risk allele
HADH
(Q152H +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia, familial, 4
+5 more
GConflicting classifications of pathogenicity
HADH
(P215T +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
HADH
(R221H +1 more)
Single nucleotide variant
(missense variant)
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
+4 more
GConflicting classifications of pathogenicity
HADH
(N294S +2 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia
+5 more
GConflicting classifications of pathogenicity
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