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Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
Translocation
Atrial septal defect, ostium secundum type
+26 more
GUncertain significance
Translocation
Absent speech
+6 more
GUncertain significance
Translocation
Polymicrogyria
+10 more
GUncertain significance
Translocation
Pectus excavatum
+22 more
GPathogenic
Translocation
Specific learning disability
+9 more
GUncertain significance
Translocation
Anteriorly placed anus
+13 more
GUncertain significance
Translocation
Few cafe-au-lait spots
+8 more
GUncertain significance
Translocation
Delayed speech and language development
+15 more
GUncertain significance
Inversion
Ear malformation
+16 more
GUncertain significance
Translocation
Delayed speech and language development
+10 more
GPathogenic
Translocation
Athetosis
+14 more
GUncertain significance
Translocation
Specific learning disability
+7 more
GUncertain significance
Translocation
Global developmental delay
+8 more
GUncertain significance
Translocation
Delayed speech and language development
+2 more
GLikely pathogenic
Translocation
Motor delay
+3 more
GUncertain significance
Translocation
Receptive language delay
+7 more
GPathogenic
Translocation
Delayed speech and language development
+9 more
GPathogenic
Inversion
Thrombocytopenia
+9 more
GPathogenic
Translocation
Delayed speech and language development
+5 more
GLikely pathogenic
Inversion
Microcephaly
+3 more
GPathogenic
Translocation
Delayed speech and language development
+3 more
GUncertain significance
Translocation
Macrocephaly
+12 more
GPathogenic
Translocation
Intellectual disability, severe
+8 more
GUncertain significance
Inversion
Motor delay
+8 more
GPathogenic
Translocation
Mild conductive hearing impairment
+12 more
GUncertain significance
Translocation
Round face
+8 more
GPathogenic
Translocation
Increased overbite
+9 more
GPathogenic
Translocation
Delayed speech and language development
+5 more
GPathogenic
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