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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BCOR, LOC126863239
Deletion
Oculofaciocardiodental syndrome
GLikely pathogenic
BCOR, LOC126863239
(Y186*)
Single nucleotide variant
(nonsense)
Oculofaciocardiodental syndrome
GPathogenic