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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACADM, ACOT11
+570 more
Copy number gain
See cases
GPathogenic
ACOT11, BSND
+205 more
Copy number loss
See cases
GPathogenic
C8A
(Q93K)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
C8A
(S149P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C8A
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
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