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Links from MedGen

Items: 1 to 100 of 1274

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HADHB
Single nucleotide variant
(intron variant)
Mitochondrial trifunctional protein deficiency
GLikely benign
HADHB
Single nucleotide variant
(synonymous variant)
Mitochondrial trifunctional protein deficiency
GLikely benign
HADHB
Single nucleotide variant
(synonymous variant)
Mitochondrial trifunctional protein deficiency
GLikely benign
HADHB
Single nucleotide variant
(synonymous variant)
Mitochondrial trifunctional protein deficiency
+1 more
GLikely benign
HADHB
Single nucleotide variant
(synonymous variant)
Mitochondrial trifunctional protein deficiency
GLikely benign
HADHB
Microsatellite
(intron variant)
Mitochondrial trifunctional protein deficiency
GLikely benign
HADHB
Single nucleotide variant
(synonymous variant)
Mitochondrial trifunctional protein deficiency
GLikely benign
HADHB
Single nucleotide variant
(splice donor variant)
Mitochondrial trifunctional protein deficiency
GLikely pathogenic
HADHB
Single nucleotide variant
(intron variant)
Mitochondrial trifunctional protein deficiency
GLikely benign
HADHB
Single nucleotide variant
(synonymous variant)
Mitochondrial trifunctional protein deficiency
GLikely benign
HADHB
Single nucleotide variant
(synonymous variant)
Mitochondrial trifunctional protein deficiency
GLikely benign
HADHB
Single nucleotide variant
(intron variant)
Mitochondrial trifunctional protein deficiency
GLikely benign
HADHB
Single nucleotide variant
(intron variant)
Mitochondrial trifunctional protein deficiency
GLikely benign
HADHB
Single nucleotide variant
(intron variant)
Mitochondrial trifunctional protein deficiency
GLikely benign
HADHB
Duplication
(intron variant)
Mitochondrial trifunctional protein deficiency
GBenign
HADHB
Single nucleotide variant
(synonymous variant)
Mitochondrial trifunctional protein deficiency
GLikely benign
HADHB
Single nucleotide variant
(intron variant)
Mitochondrial trifunctional protein deficiency
GLikely benign
HADHB
Single nucleotide variant
(synonymous variant)
Mitochondrial trifunctional protein deficiency
GLikely benign
HADHB
Single nucleotide variant
(synonymous variant)
Mitochondrial trifunctional protein deficiency
GLikely benign
HADHB
Single nucleotide variant
(intron variant)
Mitochondrial trifunctional protein deficiency
GLikely benign
HADHB
Single nucleotide variant
(intron variant)
Mitochondrial trifunctional protein deficiency
GLikely benign
HADHB
Single nucleotide variant
(synonymous variant)
Mitochondrial trifunctional protein deficiency
+1 more
GLikely benign
HADHB
(L11P)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial trifunctional protein deficiency
GUncertain significance
HADHB
(E144K +2 more)
Single nucleotide variant
(missense variant)
Mitochondrial trifunctional protein deficiency
GUncertain significance
HADHB
Single nucleotide variant
(intron variant)
Mitochondrial trifunctional protein deficiency
GLikely benign
HADHB
Single nucleotide variant
(intron variant)
Mitochondrial trifunctional protein deficiency
GLikely benign
HADHB
Single nucleotide variant
(synonymous variant)
Mitochondrial trifunctional protein deficiency
GLikely benign
HADHB
Duplication
(intron variant)
Mitochondrial trifunctional protein deficiency
GLikely benign
HADHB
Single nucleotide variant
(synonymous variant)
Mitochondrial trifunctional protein deficiency
GLikely benign
HADHB
Deletion
(intron variant)
Mitochondrial trifunctional protein deficiency
GUncertain significance
HADHB
Single nucleotide variant
(synonymous variant)
Mitochondrial trifunctional protein deficiency
GLikely benign
HADHB
Single nucleotide variant
(synonymous variant)
Mitochondrial trifunctional protein deficiency
GLikely benign
HADHB
Single nucleotide variant
(synonymous variant)
Mitochondrial trifunctional protein deficiency
GLikely benign
HADHB
Single nucleotide variant
(intron variant)
Mitochondrial trifunctional protein deficiency
GLikely benign
HADHB
Duplication
(intron variant)
Mitochondrial trifunctional protein deficiency
GBenign
HADHB
Duplication
(intron variant)
Mitochondrial trifunctional protein deficiency
GBenign
HADHB
Single nucleotide variant
(synonymous variant)
Mitochondrial trifunctional protein deficiency
GLikely benign
HADHB
Single nucleotide variant
(intron variant)
Mitochondrial trifunctional protein deficiency
GLikely benign
GAREM2, HADHA
Single nucleotide variant
(splice donor variant)
Mitochondrial trifunctional protein deficiency
+1 more
GPathogenic/Likely pathogenic
GAREM2, HADHA
Single nucleotide variant
(synonymous variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
HADHA
Single nucleotide variant
(intron variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
HADHA
Single nucleotide variant
(intron variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
HADHA
Single nucleotide variant
(intron variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
GAREM2, HADHA
Single nucleotide variant
(intron variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
GAREM2, HADHA
Single nucleotide variant
(synonymous variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
HADHA
Single nucleotide variant
(synonymous variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
GAREM2, HADHA
Single nucleotide variant
(synonymous variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
GAREM2, HADHA
Single nucleotide variant
(synonymous variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
GAREM2, HADHA
Single nucleotide variant
(intron variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
HADHA
Single nucleotide variant
(synonymous variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
GAREM2, HADHA
Single nucleotide variant
(synonymous variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
GAREM2, HADHA
Single nucleotide variant
(synonymous variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
GAREM2, HADHA
Single nucleotide variant
(synonymous variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
HADHA
Deletion
(intron variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
HADHA
(G311fs)
Deletion
(frameshift variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GPathogenic
GAREM2, HADHA
(E641fs)
Deletion
(frameshift variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GPathogenic
GAREM2, HADHA
Single nucleotide variant
(synonymous variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
GAREM2, HADHA
Single nucleotide variant
(intron variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
HADHA
Single nucleotide variant
(intron variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
GAREM2, HADHA
Single nucleotide variant
(intron variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
HADHA
Single nucleotide variant
(intron variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
HADHA
Single nucleotide variant
(splice donor variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely pathogenic
HADHA
(K213fs)
Deletion
(frameshift variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GPathogenic
GAREM2, HADHA
Single nucleotide variant
(synonymous variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
HADHA
Single nucleotide variant
(intron variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
GAREM2, HADHA
Single nucleotide variant
(synonymous variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
HADHA
(G315fs)
Deletion
(frameshift variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GPathogenic
HADHA
Single nucleotide variant
(synonymous variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
HADHA
Single nucleotide variant
(intron variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
HADHA
Single nucleotide variant
(splice acceptor variant)
Mitochondrial trifunctional protein deficiency
+1 more
GLikely pathogenic
HADHA
Single nucleotide variant
(synonymous variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
GAREM2, HADHA
Single nucleotide variant
(intron variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
GAREM2, HADHA
Deletion
(nonsense)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GPathogenic
HADHA
Single nucleotide variant
(intron variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
HADHA
Single nucleotide variant
(intron variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
HADHA
Single nucleotide variant
(synonymous variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
HADHA
Single nucleotide variant
(synonymous variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
GAREM2, HADHA
Single nucleotide variant
(intron variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
HADHA
Duplication
(intron variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
HADHA
Single nucleotide variant
(synonymous variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
GAREM2, HADHA
Single nucleotide variant
(intron variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
GAREM2, HADHA
Single nucleotide variant
(intron variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
GAREM2, HADHA
Microsatellite
(intron variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
GAREM2, HADHA
Single nucleotide variant
(synonymous variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
GAREM2, HADHA
Single nucleotide variant
(synonymous variant)
Mitochondrial trifunctional protein deficiency
+1 more
GLikely benign
GAREM2, HADHA
Single nucleotide variant
(intron variant)
Mitochondrial trifunctional protein deficiency
+1 more
GLikely benign
GAREM2, HADHA
(E699fs)
Duplication
(frameshift variant)
Mitochondrial trifunctional protein deficiency
+1 more
GPathogenic
HADHA
Single nucleotide variant
(intron variant)
Mitochondrial trifunctional protein deficiency
+1 more
GLikely benign
HADHA
Single nucleotide variant
(synonymous variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
HADHA
Single nucleotide variant
(synonymous variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
HADHA
Single nucleotide variant
(intron variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
HADHA
Single nucleotide variant
(intron variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
GAREM2, HADHA
Single nucleotide variant
(synonymous variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
GAREM2, HADHA
Single nucleotide variant
(intron variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
GAREM2, HADHA
Single nucleotide variant
(intron variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
HADHA
Single nucleotide variant
(intron variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
HADHA
Single nucleotide variant
(synonymous variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
HADHA
Single nucleotide variant
(intron variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GLikely benign
GAREM2, HADHA
(T395fs)
Duplication
(frameshift variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GPathogenic
HADHA
(E335fs)
Deletion
(frameshift variant)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
+1 more
GPathogenic
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