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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
Translocation
Failure to thrive
GUncertain significance
Translocation
Failure to thrive
+2 more
GUncertain significance
Translocation
Failure to thrive
GUncertain significance
Inversion
Failure to thrive
GUncertain significance
Translocation
Oppositional defiant disorder
+5 more
GUncertain significance
Translocation
Inversion of nipple
+13 more
GUncertain significance
Translocation
Growth delay
+7 more
GUncertain significance
Translocation
Colorectal polyposis
+3 more
GUncertain significance
Inversion
Thrombocytopenia
+9 more
GPathogenic
Inversion
Congenital finger flexion contractures
+13 more
GPathogenic
Translocation
Microcephaly
+3 more
GLikely pathogenic
Inversion
Global developmental delay
+14 more
GPathogenic
Translocation
Abnormal facial shape
+16 more
GLikely pathogenic
Complex
Growth delay
+14 more
GPathogenic
Translocation
Limb joint contracture
+20 more
GPathogenic
Translocation
High myopia
+14 more
GPathogenic
Translocation
Alveolar capillary dysplasia with pulmonary venous misalignment
+5 more
GPathogenic
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