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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
Translocation
Intellectual disability
+4 more
GUncertain significance
Translocation
Anteriorly placed anus
+13 more
GUncertain significance
Inversion
Hypertelorism
+8 more
GPathogenic
Translocation
Hypotonia
+10 more
GUncertain significance
Inversion
Wide nose
+2 more
GUncertain significance
Translocation
Increased blood urea nitrogen
+24 more
GUncertain significance
Translocation
Athetosis
+14 more
GUncertain significance
Translocation
Hypertelorism
+1 more
GUncertain significance
Translocation
Hypertelorism
+13 more
GPathogenic
Inversion
Hypertelorism
+20 more
GPathogenic
Translocation
Low-set, posteriorly rotated ears
+17 more
GPathogenic
Translocation
Abnormality of the tongue
+15 more
GLikely pathogenic
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