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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCD4
(E556fs +7 more)
Microsatellite
(frameshift variant +2 more)
Methylmalonic acidemia with homocystinuria, type cblJ
GConflicting classifications of pathogenicity
ABCD4, ACOT2
+38 more
Copy number loss
not provided
GLikely pathogenic