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Links from MedGen

Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HADHB
Single nucleotide variant
(intron variant +1 more)
Mitochondrial trifunctional protein deficiency 2
GLikely benign
HADHB
Single nucleotide variant
(splice acceptor variant)
Mitochondrial trifunctional protein deficiency 2
+1 more
GPathogenic/Likely pathogenic
HADHB
Deletion
Mitochondrial trifunctional protein deficiency 2
GPathogenic
HADHB
(M445L +2 more)
Single nucleotide variant
(missense variant)
Mitochondrial trifunctional protein deficiency 2
GUncertain significance
HADHB
(N396D +2 more)
Single nucleotide variant
(missense variant)
Mitochondrial trifunctional protein deficiency 2
GUncertain significance
HADHB
(N92S +2 more)
Single nucleotide variant
(missense variant)
Mitochondrial trifunctional protein deficiency
+1 more
GConflicting classifications of pathogenicity
HADHB
(S154* +2 more)
Single nucleotide variant
(nonsense)
Mitochondrial trifunctional protein deficiency 2
GLikely pathogenic
HADHB
(V143I +2 more)
Single nucleotide variant
(missense variant)
Mitochondrial trifunctional protein deficiency
+1 more
GUncertain significance
HADHB
(R229* +2 more)
Single nucleotide variant
(nonsense)
Mitochondrial trifunctional protein deficiency
+1 more
GPathogenic
HADHB
(R195Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
HADHB
(R238W +2 more)
Single nucleotide variant
(missense variant)
Mitochondrial trifunctional protein deficiency 2
+1 more
GConflicting classifications of pathogenicity
HADHB
(A105fs +2 more)
Duplication
(frameshift variant)
Mitochondrial trifunctional protein deficiency 2
GPathogenic
HADHB
Single nucleotide variant
(synonymous variant)
Mitochondrial trifunctional protein deficiency 2
+2 more
GBenign
HADHB
(K277R +2 more)
Single nucleotide variant
(missense variant)
Mitochondrial trifunctional protein deficiency 2
+2 more
GBenign/Likely benign
HADHB
Single nucleotide variant
(intron variant)
Mitochondrial trifunctional protein deficiency 2
+2 more
GBenign
HADHB
Single nucleotide variant
(synonymous variant)
Mitochondrial trifunctional protein deficiency 2
+2 more
GBenign
HADHB
Single nucleotide variant
(synonymous variant)
Mitochondrial trifunctional protein deficiency 2
+2 more
GBenign
HADHB
(L260fs +2 more)
Insertion
(frameshift variant)
Mitochondrial trifunctional protein deficiency 2
GPathogenic
HADHB
(R422K +2 more)
Single nucleotide variant
(missense variant)
Mitochondrial trifunctional protein deficiency 2
GPathogenic
HADHB
(R247H +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
HADHB
(R61H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
HADHB
(D263G +2 more)
Single nucleotide variant
(missense variant)
Mitochondrial trifunctional protein deficiency 2
GPathogenic
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