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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SETD5
(F245fs +1 more)
Deletion
(frameshift variant)
Global developmental delay
GPathogenic
SETD5
(G853R +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
SETD5
(S1273fs +1 more)
Duplication
(frameshift variant)
not provided
+1 more
GLikely pathogenic
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