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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAPK11
Single nucleotide variant
(intron variant)
not provided
GBenign
ADM2, ALG12
+29 more
Deletion
not provided
GPathogenic
CHKB, ARSA
+31 more
Deletion
not provided
GPathogenic
ADM2, ALG12
+31 more
Duplication
ALG12-congenital disorder of glycosylation
GUncertain significance
ADM2, ALG12
+29 more
Deletion
ALG12-congenital disorder of glycosylation
GPathogenic
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