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Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
Complex
Setting-sun eye phenomenon
+16 more
GPathogenic
Translocation
Brisk reflexes
+29 more
GPathogenic
Translocation
Hypotonia
+11 more
GLikely pathogenic
Translocation
Hypotonia
+6 more
GUncertain significance
Complex
Clubfoot
+9 more
GUncertain significance
Translocation
Intellectual disability, mild
+2 more
GUncertain significance
Translocation
Large for gestational age
+9 more
GPathogenic
Translocation
Dolichocephaly
+11 more
GPathogenic
Translocation
Hypotonia
+10 more
GUncertain significance
Translocation
Lumbar hypertrichosis
+12 more
GPathogenic
Translocation
Dysarthria
+2 more
GPathogenic
Translocation
Abnormal facial shape
+3 more
GPathogenic
Translocation
Choreoathetosis
+3 more
GUncertain significance
Inversion
Hypotonia
+22 more
GPathogenic
Translocation
Inversion of nipple
+13 more
GUncertain significance
Translocation
Athetosis
+14 more
GUncertain significance
Translocation
Clinodactyly of the 5th finger
+14 more
GLikely pathogenic
Translocation
Receptive language delay
+7 more
GPathogenic
Inversion
Autistic behavior
+3 more
GLikely pathogenic
Inversion
Tall stature
+3 more
GPathogenic
Translocation
Isolated Pierre-Robin syndrome
+1 more
GUncertain significance
Translocation
Growth delay
+3 more
GLikely pathogenic
Translocation
Delayed speech and language development
+3 more
GUncertain significance
Translocation
Intellectual disability
+3 more
GLikely pathogenic
Translocation
Anteverted nares
+9 more
GLikely pathogenic
Inversion
Hypotonia
+2 more
GLikely pathogenic
Translocation
Abnormality of mouth shape
+18 more
GPathogenic
Inversion
Hypertelorism
+20 more
GPathogenic
Translocation
Synophrys
+11 more
GPathogenic
Translocation
Short philtrum
+13 more
GLikely pathogenic
Translocation
Hypotonia
+4 more
GUncertain significance
Translocation
Myopia
+8 more
GUncertain significance
Translocation
Asthma
+5 more
GUncertain significance
Translocation
Microcephaly
+5 more
GLikely pathogenic
Translocation
Hemangioma
+6 more
GLikely pathogenic
Translocation
Hypotonia
+15 more
GPathogenic
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