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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BCOR
(D1583G +2 more)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(E1060* +1 more)
Single nucleotide variant
(nonsense)
Oculofaciocardiodental syndrome
GLikely pathogenic