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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRD4
(I300V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BRD4
(P237fs)
Deletion
(frameshift variant)
Microcephaly
+1 more
GLikely pathogenic
BRD4
(T210S)
Single nucleotide variant
(missense variant)
Cornelia de Lange-like syndrome
GUncertain significance
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