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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
Translocation
Brisk reflexes
+29 more
GPathogenic
Translocation
Pectus excavatum
+22 more
GPathogenic
Translocation
Delayed speech and language development
+15 more
GUncertain significance
Translocation
Downturned corners of mouth
+24 more
GUncertain significance
Translocation
Cerebral calcification
+12 more
GLikely pathogenic
Translocation
Abnormal facial shape
+16 more
GLikely pathogenic
Inversion
Microcephaly
+8 more
GPathogenic
Translocation
Global developmental delay
+9 more
GUncertain significance
Inversion
Hypertelorism
+20 more
GPathogenic
Translocation
Craniosynostosis syndrome
+16 more
GPathogenic
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