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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ETFDH
(L262F +2 more)
Single nucleotide variant
(missense variant)
Multiple acyl-CoA dehydrogenase deficiency
GConflicting classifications of pathogenicity
ETFA
Single nucleotide variant
(5 prime UTR variant)
Multiple acyl-CoA dehydrogenase deficiency
+1 more
GUncertain significance
ETFB
(N188K +1 more)
Single nucleotide variant
(missense variant)
Multiple acyl-CoA dehydrogenase deficiency
GUncertain significance
ETFB
(P183S +1 more)
Single nucleotide variant
(missense variant)
Glutaric acidemia IIc
+1 more
GConflicting classifications of pathogenicity
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