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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ETFA
(D263N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ETFA
(A305V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ETFA
(R249H +1 more)
Single nucleotide variant
(missense variant)
Multiple acyl-CoA dehydrogenase deficiency
+1 more
GUncertain significance
ETFA
(G173V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ETFA
(E186G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ETFA
(D174G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ETFA
(R169C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ETFA
(G72D +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ETFA
(E50K)
Single nucleotide variant
(missense variant +1 more)
Multiple acyl-CoA dehydrogenase deficiency
+1 more
GUncertain significance
ETFA
(H28R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ETFA
(R18*)
Single nucleotide variant
(nonsense +1 more)
Multiple acyl-CoA dehydrogenase deficiency
+2 more
GPathogenic
ETFA
(Q9R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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