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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACSF3
Single nucleotide variant
(intron variant)
Combined malonic and methylmalonic acidemia
GUncertain significance
ACSF3
(R471Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity