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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KDM6B
(L519fs)
Duplication
(frameshift variant)
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
GLikely pathogenic
KDM6B, LOC121587574
(I1332N)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
GUncertain significance
KDM6B, LOC121587574
(W1519*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
GUncertain significance
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