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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ETFDH
(A18fs)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
ETFDH
(R51Q)
Single nucleotide variant
(missense variant +1 more)
Multiple acyl-CoA dehydrogenase deficiency
+1 more
GPathogenic/Likely pathogenic
ETFDH
(S490* +2 more)
Single nucleotide variant
(nonsense)
Multiple acyl-CoA dehydrogenase deficiency
GPathogenic/Likely pathogenic
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