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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ETFA
(V221del +1 more)
Microsatellite
(inframe_deletion)
Multiple acyl-CoA dehydrogenase deficiency
+1 more
GConflicting classifications of pathogenicity
ETFA
(R223Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ETFA
(R223* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
ETFA
(H107fs +1 more)
Microsatellite
(frameshift variant)
Multiple acyl-CoA dehydrogenase deficiency
GPathogenic/Likely pathogenic
ETFA
(Q9fs)
Duplication
(frameshift variant)
Multiple acyl-CoA dehydrogenase deficiency
+1 more
GPathogenic
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