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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
Translocation
Brisk reflexes
+29 more
GPathogenic
Translocation
Cleft soft palate
+13 more
GUncertain significance
Translocation
Failure to thrive
+2 more
GUncertain significance
Translocation
Short philtrum
+28 more
GUncertain significance
Translocation
Delayed speech and language development
+10 more
GPathogenic
Translocation
Delayed speech and language development
+8 more
GUncertain significance
Inversion
Global developmental delay
+14 more
GPathogenic
Translocation
Abnormal facial shape
+16 more
GLikely pathogenic
Translocation
Abnormality of mouth shape
+18 more
GPathogenic
Inversion
Hypertelorism
+20 more
GPathogenic
Translocation
Abnormal facial skeleton morphology
+18 more
GLikely pathogenic
Translocation
Limb joint contracture
+20 more
GPathogenic
Translocation
Hypotonia
+4 more
GUncertain significance
Translocation
Hypotonia
+15 more
GPathogenic
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