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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DUSP11
Single nucleotide variant
(intron variant)
not provided
GBenign
DUSP11
Single nucleotide variant
(intron variant)
not provided
GBenign
DUSP11
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
AAK1, ACTG2
+72 more
Duplication
not provided
GUncertain significance
ACTG2, ALMS1
+42 more
Deletion
not provided
GPathogenic
ACTG2, ALMS1
+55 more
Deletion
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
GPathogenic
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