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Links from MedGen

Items: 62

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HADH
Deletion
(3 prime UTR variant)
Hyperinsulinemic hypoglycemia, familial, 4
GLikely benign
HADH
(A145D +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia, familial, 4
GLikely pathogenic
HADH
(G303S +2 more)
Single nucleotide variant
(missense variant)
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
+1 more
GUncertain significance
HADH
(S246*)
Single nucleotide variant
(nonsense +1 more)
Hyperinsulinemic hypoglycemia, familial, 4
GUncertain significance
HADH
(K136E +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia, familial, 4
GUncertain significance
HADH
Single nucleotide variant
(3 prime UTR variant)
Hyperinsulinemic hypoglycemia, familial, 4
+2 more
GConflicting classifications of pathogenicity
HADH
Single nucleotide variant
(3 prime UTR variant)
Hyperinsulinemic hypoglycemia, familial, 4
+2 more
GConflicting classifications of pathogenicity
HADH
Single nucleotide variant
(synonymous variant)
Hyperinsulinemic hypoglycemia
+2 more
GConflicting classifications of pathogenicity
HADH, LOC129992931
Single nucleotide variant
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
+2 more
GConflicting classifications of pathogenicity
HADH
(D279E +2 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia
+2 more
GConflicting classifications of pathogenicity
HADH
(D279N +2 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia
+3 more
GUncertain significance/Uncertain risk allele
HADH
(T270M +2 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia, familial, 4
+2 more
GUncertain significance/Uncertain risk allele
HADH
Single nucleotide variant
(synonymous variant)
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
+2 more
GConflicting classifications of pathogenicity
HADH
Single nucleotide variant
(intron variant)
Hyperinsulinemic hypoglycemia, familial, 4
+3 more
GConflicting classifications of pathogenicity
HADH
Single nucleotide variant
(intron variant)
Hyperinsulinemic hypoglycemia, familial, 4
+2 more
GConflicting classifications of pathogenicity
HADH, LOC129992931
Single nucleotide variant
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
+2 more
GConflicting classifications of pathogenicity
HADH
Single nucleotide variant
(3 prime UTR variant)
Hyperinsulinemic hypoglycemia, familial, 4
+1 more
GConflicting classifications of pathogenicity
HADH
Single nucleotide variant
(3 prime UTR variant)
Hyperinsulinemic hypoglycemia, familial, 4
+1 more
GConflicting classifications of pathogenicity
HADH
Single nucleotide variant
(intron variant)
Hyperinsulinemic hypoglycemia, familial, 4
+2 more
GConflicting classifications of pathogenicity
HADH
(A230T +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia
+2 more
GConflicting classifications of pathogenicity
HADH
Single nucleotide variant
(5 prime UTR variant)
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
+2 more
GConflicting classifications of pathogenicity
HADH, LOC129992931
Single nucleotide variant
Hyperinsulinemic hypoglycemia, familial, 4
+2 more
GConflicting classifications of pathogenicity
HADH
Single nucleotide variant
(3 prime UTR variant)
Hyperinsulinemic hypoglycemia
+2 more
GConflicting classifications of pathogenicity
HADH
Single nucleotide variant
(3 prime UTR variant)
Hyperinsulinemic hypoglycemia
+2 more
GConflicting classifications of pathogenicity
HADH
Single nucleotide variant
(3 prime UTR variant)
Hyperinsulinemic hypoglycemia
+2 more
GConflicting classifications of pathogenicity
HADH
(S200fs +1 more)
Deletion
(frameshift variant)
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
+1 more
GPathogenic/Likely pathogenic/Likely risk allele
HADH
Single nucleotide variant
(splice donor variant)
Hyperinsulinemic hypoglycemia, familial, 4
+2 more
GPathogenic/Likely pathogenic
HADH
(G34R)
Single nucleotide variant
(missense variant)
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
+2 more
GLikely pathogenic
HADH
(V117L +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
HADH
(P215T +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
HADH
(K129fs +1 more)
Insertion
(frameshift variant)
not provided
+2 more
GConflicting classifications of pathogenicity
HADH
(N294S +2 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia
+5 more
GConflicting classifications of pathogenicity
HADH
(R221H +1 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+4 more
GConflicting classifications of pathogenicity
HADH
Single nucleotide variant
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
+1 more
GBenign/Likely benign
HADH
Single nucleotide variant
(3 prime UTR variant)
Hyperinsulinemic hypoglycemia, familial, 4
+1 more
GConflicting classifications of pathogenicity
HADH
Single nucleotide variant
(3 prime UTR variant)
Hyperinsulinemic hypoglycemia
+2 more
GConflicting classifications of pathogenicity
HADH
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
HADH
Single nucleotide variant
(3 prime UTR variant)
Hyperinsulinemic hypoglycemia
+2 more
GConflicting classifications of pathogenicity
HADH
(V297I +2 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia
+2 more
GUncertain significance/Uncertain risk allele
HADH
Single nucleotide variant
(synonymous variant)
Hyperinsulinemic hypoglycemia, familial, 4
+3 more
GConflicting classifications of pathogenicity
HADH
Single nucleotide variant
(synonymous variant)
Hyperinsulinemic hypoglycemia
+2 more
GConflicting classifications of pathogenicity
HADH
Single nucleotide variant
(synonymous variant)
Hyperinsulinemic hypoglycemia
+2 more
GConflicting classifications of pathogenicity
HADH
Single nucleotide variant
(5 prime UTR variant)
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
+2 more
GConflicting classifications of pathogenicity
HADH
Single nucleotide variant
(5 prime UTR variant)
Hyperinsulinemic hypoglycemia
+3 more
GBenign/Likely benign
HADH, LOC129992931
Single nucleotide variant
Hyperinsulinemic hypoglycemia
+3 more
GBenign/Likely benign
HADH, LOC129992931
Single nucleotide variant
Hyperinsulinemic hypoglycemia
+2 more
GBenign/Likely benign
HADH, LOC129992931
Single nucleotide variant
Hyperinsulinemic hypoglycemia
+3 more
GConflicting classifications of pathogenicity
LOC129992931, HADH
Deletion
Hyperinsulinemic hypoglycemia
+3 more
GUncertain significance/Uncertain risk allele
HADH, LOC129992931
Single nucleotide variant
not provided
+2 more
GBenign/Likely benign
LOC129992931, HADH
Single nucleotide variant
Hyperinsulinemic hypoglycemia, familial, 4
+1 more
GUncertain significance
HADH, LOC129992931
Single nucleotide variant
Hyperinsulinemic hypoglycemia, familial, 4
+1 more
GUncertain significance
HADH
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign/Likely benign
HADH
(Y226H +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia, familial, 4
+1 more
GConflicting classifications of pathogenicity
HADH
(Q152H +1 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+5 more
GConflicting classifications of pathogenicity
HADH
(F92C +1 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+4 more
GConflicting classifications of pathogenicity
HADH
Single nucleotide variant
(intron variant)
Hyperinsulinemic hypoglycemia
+3 more
GConflicting classifications of pathogenicity
HADH
Single nucleotide variant
(intron variant)
Hyperinsulinemic hypoglycemia, familial, 4
GPathogenic
LOC129992931, HADH
Deletion
(genic upstream transcript variant)
Hyperinsulinemic hypoglycemia, familial, 4
GPathogenic
HADH
(R236* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
HADH
Deletion
(splice acceptor variant)
Hyperinsulinemic hypoglycemia, familial, 4
GPathogenic
HADH
(P258L +2 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia, familial, 4
GPathogenic
HADH
(D57E +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemic hypoglycemia
+1 more
GUncertain significance/Uncertain risk allele
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