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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
Translocation
Intellectual disability
+4 more
GUncertain significance
Translocation
Axial hypotonia
+7 more
GLikely pathogenic
Translocation
Facial asymmetry
+8 more
GUncertain significance
Complex
Clubfoot
+9 more
GUncertain significance
Translocation
Dolichocephaly
+11 more
GPathogenic
Translocation
Hypotonia
+10 more
GUncertain significance
Translocation
Severe global developmental delay
+4 more
GLikely pathogenic
Translocation
Short philtrum
+28 more
GUncertain significance
Translocation
Peripheral arterial stenosis
+7 more
GUncertain significance
Translocation
Mild conductive hearing impairment
+12 more
GUncertain significance
Translocation
Interictal epileptiform activity
+5 more
GUncertain significance
Translocation
Emotional lability
+12 more
GPathogenic
Translocation
Limb joint contracture
+20 more
GPathogenic
Translocation
Hemangioma
+6 more
GLikely pathogenic
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