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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130064190, UBA2
(V20fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
LOC130064190, UBA2
(G24V)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic