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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
Translocation
Brisk reflexes
+29 more
GPathogenic
Translocation
Pectus excavatum
+22 more
GPathogenic
Complex
Clubfoot
+9 more
GUncertain significance
Translocation
Hypoplasia of the frontal lobes
+11 more
GLikely pathogenic
Translocation
Microcephaly
+7 more
GUncertain significance
Inversion
Microcephaly
+5 more
GUncertain significance
Translocation
Abnormal brain morphology
+1 more
GLikely pathogenic
Translocation
Growth delay
+7 more
GUncertain significance
Translocation
Posteriorly placed tongue
+17 more
GLikely pathogenic
Translocation
Hypoplasia of the corpus callosum
+3 more
GLikely pathogenic
Inversion
Thrombocytopenia
+9 more
GPathogenic
Inversion
Congenital finger flexion contractures
+13 more
GPathogenic
Translocation
Microcephaly
+3 more
GLikely pathogenic
Inversion
Microcephaly
+3 more
GPathogenic
Inversion
Microcephaly
+8 more
GPathogenic
Translocation
Movement disorder
+12 more
GUncertain significance
Translocation
Craniosynostosis syndrome
+16 more
GPathogenic
Translocation
Microcephaly
+5 more
GLikely pathogenic
Translocation
Hypotonia
+15 more
GPathogenic
Translocation
Alveolar capillary dysplasia with pulmonary venous misalignment
+5 more
GPathogenic
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