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Items: 49

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
Translocation
Delayed speech and language development
+19 more
GPathogenic
Complex
Setting-sun eye phenomenon
+16 more
GPathogenic
Translocation
Absent speech
+6 more
GUncertain significance
Translocation
Brisk reflexes
+29 more
GPathogenic
Translocation
Delayed speech and language development
+15 more
GPathogenic
Translocation
Pectus excavatum
+22 more
GPathogenic
Translocation
Intellectual disability
+4 more
GUncertain significance
Translocation
Specific learning disability
+9 more
GUncertain significance
Translocation
Hypotonia
+6 more
GUncertain significance
Translocation
Anteriorly placed anus
+13 more
GUncertain significance
Translocation
Axial hypotonia
+7 more
GLikely pathogenic
Translocation
Facial asymmetry
+8 more
GUncertain significance
Translocation
Delayed speech and language development
+15 more
GUncertain significance
Translocation
Eczema
+3 more
GPathogenic
Translocation
Dolichocephaly
+11 more
GPathogenic
Inversion
Protruding tongue
+7 more
GUncertain significance
Translocation
Hypotonia
+10 more
GUncertain significance
Translocation
Lumbar hypertrichosis
+12 more
GPathogenic
Inversion
Delayed speech and language development
+1 more
GUncertain significance
Inversion
Ear malformation
+16 more
GUncertain significance
Translocation
Male infertility
+14 more
GUncertain significance
Translocation
Short philtrum
+28 more
GUncertain significance
Translocation
Inversion of nipple
+13 more
GUncertain significance
Translocation
Downturned corners of mouth
+24 more
GUncertain significance
Translocation
Delayed speech and language development
+10 more
GPathogenic
Translocation
Athetosis
+14 more
GUncertain significance
Translocation
Specific learning disability
+4 more
GUncertain significance
Translocation
Delayed speech and language development
+8 more
GUncertain significance
Translocation
Delayed speech and language development
+2 more
GLikely pathogenic
Translocation
Attention deficit hyperactivity disorder
+13 more
GPathogenic
Translocation
Delayed speech and language development
+6 more
GLikely pathogenic
Translocation
Clinodactyly of the 5th finger
+14 more
GLikely pathogenic
Translocation
Delayed speech and language development
+9 more
GPathogenic
Inversion
Thrombocytopenia
+9 more
GPathogenic
Translocation
Delayed speech and language development
+5 more
GLikely pathogenic
Translocation
Delayed speech and language development
+3 more
GUncertain significance
Translocation
Attention deficit hyperactivity disorder
+6 more
GUncertain significance
Translocation
Macrocephaly
+12 more
GPathogenic
Translocation
Intellectual disability, severe
+8 more
GUncertain significance
Translocation
Abnormal facial shape
+16 more
GLikely pathogenic
Inversion
Microcephaly
+8 more
GPathogenic
Translocation
Mild conductive hearing impairment
+12 more
GUncertain significance
Translocation
Abnormal facial shape
+4 more
GPathogenic
Translocation
Emotional lability
+12 more
GPathogenic
Translocation
Round face
+8 more
GPathogenic
Translocation
Global developmental delay
+9 more
GUncertain significance
Inversion
Hypertelorism
+20 more
GPathogenic
Translocation
Delayed speech and language development
+5 more
GPathogenic
Translocation
Obsessive-compulsive trait
+2 more
GPathogenic
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