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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UBE3B
(L539fs)
Duplication
(frameshift variant)
Oculocerebrofacial syndrome, Kaufman type
GLikely pathogenic
UBE3B
(R658*)
Single nucleotide variant
(nonsense)
Oculocerebrofacial syndrome, Kaufman type
GLikely pathogenic