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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
Translocation
Atrial septal defect, ostium secundum type
+26 more
GUncertain significance
Translocation
Pectus excavatum
+22 more
GPathogenic
Translocation
Intellectual disability, mild
+6 more
GPathogenic
Translocation
Hypotonia
+10 more
GUncertain significance
Inversion
Hypotonia
+22 more
GPathogenic
Translocation
Cryptorchidism
+13 more
GPathogenic
Translocation
Short philtrum
+28 more
GUncertain significance
Translocation
Posteriorly placed tongue
+17 more
GLikely pathogenic
Translocation
Cerebral calcification
+12 more
GLikely pathogenic
Translocation
Corpus callosum, agenesis of
+24 more
GUncertain significance
Translocation
Abnormality of the musculature
+11 more
GLikely pathogenic
Inversion
Microcephaly
+8 more
GPathogenic
Translocation
Short philtrum
+13 more
GLikely pathogenic
Translocation
Ear malformation
+13 more
GPathogenic
Translocation
Abnormality of the outer ear
+10 more
GLikely pathogenic
Translocation
Hypotonia
+4 more
GUncertain significance
Translocation
Craniosynostosis syndrome
+16 more
GPathogenic
Translocation
Low-set, posteriorly rotated ears
+17 more
GPathogenic
Complex
Hydrocele testis
+10 more
GPathogenic
Translocation
Clinodactyly of the 5th finger
+5 more
GUncertain significance
Translocation
Abnormality of the tongue
+15 more
GLikely pathogenic
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