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Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
Translocation
Delayed speech and language development
+19 more
GPathogenic
Translocation
Absent speech
+6 more
GUncertain significance
Translocation
Delayed speech and language development
+15 more
GPathogenic
Translocation
Seizure
GLikely pathogenic
Complex
Microcephaly
+9 more
GUncertain significance
Translocation
Dolichocephaly
+11 more
GPathogenic
Inversion
Seizure
GUncertain significance
Inversion
Seizure
+1 more
GUncertain significance
Inversion
Involuntary movements
+3 more
GUncertain significance
Translocation
Seizure
GUncertain significance
Translocation
Oppositional defiant disorder
+5 more
GUncertain significance
Translocation
Autistic behavior
+2 more
GUncertain significance
Translocation
Exotropia
+7 more
GUncertain significance
Translocation
Cryptorchidism
+13 more
GPathogenic
Inversion
Microcephaly
+5 more
GUncertain significance
Translocation
Severe global developmental delay
+4 more
GLikely pathogenic
Translocation
Seizure
+1 more
GUncertain significance
Inversion
Global developmental delay
+6 more
GUncertain significance
Translocation
Posteriorly placed tongue
+17 more
GLikely pathogenic
Translocation
Receptive language delay
+7 more
GPathogenic
Inversion
Autistic behavior
+3 more
GLikely pathogenic
Translocation
Peripheral arterial stenosis
+7 more
GUncertain significance
Translocation
Sensorineural hearing loss disorder
+3 more
GLikely pathogenic
Translocation
Macular hypopigmented whorls, streaks, and patches
+3 more
GUncertain significance
Translocation
Abnormality of the musculature
+11 more
GLikely pathogenic
Inversion
Microcephaly
+8 more
GPathogenic
Translocation
Mild conductive hearing impairment
+12 more
GUncertain significance
Translocation
Interictal epileptiform activity
+5 more
GUncertain significance
Translocation
Abnormality of mouth shape
+18 more
GPathogenic
Inversion
Hypertelorism
+20 more
GPathogenic
Translocation
Delayed speech and language development
+5 more
GPathogenic
Translocation
Microcephaly
+12 more
GUncertain significance
Complex
Growth delay
+14 more
GPathogenic
Translocation
Short philtrum
+13 more
GLikely pathogenic
Translocation
Microphthalmia
+3 more
GPathogenic
Translocation
Clinodactyly of the 5th finger
+5 more
GUncertain significance
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