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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
Inversion
Hypertelorism
+8 more
GPathogenic
Inversion
Short palpebral fissure
+9 more
GLikely pathogenic
Translocation
Hypotonia
+10 more
GUncertain significance
Inversion
Microtia
+1 more
GUncertain significance
Translocation
Short philtrum
+28 more
GUncertain significance
Inversion
Global developmental delay
+14 more
GPathogenic
Inversion
Microcephaly
+8 more
GPathogenic
Translocation
Hypertelorism
+13 more
GPathogenic
Translocation
Gastrostomy tube feeding in infancy
+12 more
GUncertain significance
Translocation
Abnormality of the outer ear
+10 more
GLikely pathogenic
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