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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ETFDH
(T31I)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
ETFDH
(L377P +2 more)
Single nucleotide variant
(missense variant)
Multiple acyl-CoA dehydrogenase deficiency
+2 more
GPathogenic/Likely pathogenic
ETFDH
(M331T +2 more)
Single nucleotide variant
(missense variant)
Multiple acyl-CoA dehydrogenase deficiency
GUncertain significance
ETFDH
(I393L +2 more)
Single nucleotide variant
(missense variant)
Multiple acyl-CoA dehydrogenase deficiency
GUncertain significance
ETFDH
Single nucleotide variant
(synonymous variant)
Multiple acyl-CoA dehydrogenase deficiency
+1 more
GConflicting classifications of pathogenicity
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