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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACADSB
(Q99*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ACADSB
Single nucleotide variant
(splice donor variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ACADSB
(T148I +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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