U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from Orgtrack

Items: 1 to 100 of 246

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
Translocation
Telecanthus
+3 more
GUncertain significance
Translocation
Delayed speech and language development
+19 more
GPathogenic
Complex
Setting-sun eye phenomenon
+16 more
GPathogenic
Translocation
Chin with horizontal crease
+26 more
GUncertain significance
Translocation
Tall stature
+6 more
GPathogenic
Translocation
Absent speech
+6 more
GUncertain significance
Translocation
Brisk reflexes
+29 more
GPathogenic
Translocation
Polymicrogyria
+10 more
GUncertain significance
Translocation
Hypotonia
+11 more
GLikely pathogenic
Translocation
Delayed speech and language development
+15 more
GPathogenic
Translocation
Pectus excavatum
+22 more
GPathogenic
Translocation
Intellectual disability
+4 more
GUncertain significance
Translocation
Seizure
GLikely pathogenic
Translocation
Specific learning disability
+9 more
GUncertain significance
Translocation
Male infertility
GUncertain significance
Translocation
Cleft soft palate
+13 more
GUncertain significance
Translocation
Intellectual disability
+1 more
GPathogenic
Translocation
Congenital sensorineural hearing impairment
+2 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
Rieger anomaly
+1 more
GLikely pathogenic
Complex
Clubfoot
+9 more
GUncertain significance
Inversion
Abnormality of prenatal development or birth
GLikely pathogenic
Translocation
Narrow nasal base
+9 more
GUncertain significance
Translocation
Clubfoot
+6 more
GPathogenic
Translocation
Global developmental delay
+3 more
GPathogenic
Inversion
Hypertelorism
+8 more
GPathogenic
Translocation
Chronic constipation
+2 more
GUncertain significance
Inversion
Short palpebral fissure
+9 more
GLikely pathogenic
Inversion
Abnormality of the eye
+1 more
GUncertain significance
Translocation
Intellectual disability, mild
+2 more
GUncertain significance
Translocation
Arachnodactyly
+10 more
GUncertain significance
Translocation
Large for gestational age
+9 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
Translocation
Hypoplasia of the frontal lobes
+11 more
GLikely pathogenic
Translocation
Failure to thrive
GUncertain significance
Translocation
Abnormality of prenatal development or birth
GPathogenic
Translocation
Atypical behavior
GUncertain significance
Inversion
Global developmental delay
GUncertain significance
Inversion
Seizure
GUncertain significance
Translocation
Autistic behavior
GUncertain significance
Inversion
Global developmental delay
GUncertain significance
Translocation
Abnormality of prenatal development or birth
GUncertain significance
Inversion
Delayed puberty
+1 more
GUncertain significance
Inversion
Speech apraxia
GUncertain significance
Inversion
Global developmental delay
GLikely pathogenic
Translocation
Global developmental delay
GPathogenic
Translocation
Small for gestational age
GUncertain significance
Inversion
Seizure
+1 more
GUncertain significance
Inversion
Neutropenia
+1 more
GUncertain significance
Translocation
Global developmental delay
GUncertain significance
Inversion
Involuntary movements
+3 more
GUncertain significance
Inversion
Delayed speech and language development
+1 more
GUncertain significance
Inversion
Short stature
+1 more
GUncertain significance
Inversion
Encephalopathy
GUncertain significance
Inversion
Abnormal facial shape
GUncertain significance
Translocation
Global developmental delay
GUncertain significance
Translocation
Seizure
GUncertain significance
Translocation
Autistic behavior
GUncertain significance
Translocation
Abnormality of the nervous system
GUncertain significance
Translocation
Failure to thrive
+2 more
GUncertain significance
Translocation
Slurred speech
GLikely pathogenic
Translocation
Failure to thrive
GUncertain significance
Inversion
Encephalopathy
GLikely pathogenic
Translocation
Macrocephaly
+1 more
GUncertain significance
Translocation
Short stature
GPathogenic
Inversion
Delayed skeletal maturation
+1 more
GUncertain significance
Inversion
Failure to thrive
GUncertain significance
Inversion
Insulin resistance
+3 more
GUncertain significance
Inversion
Abnormal facial shape
+1 more
GPathogenic
Inversion
Short stature
+1 more
GUncertain significance
Inversion
Patent ductus arteriosus
+2 more
GLikely pathogenic
Inversion
Aplasia/Hypoplasia of the breasts
+1 more
GUncertain significance
Translocation
Oppositional defiant disorder
+5 more
GUncertain significance
Translocation
Aplasia of the uterus
GUncertain significance
Translocation
Primary amenorrhea
GUncertain significance
Translocation
Global developmental delay
GUncertain significance
Translocation
Retrognathia
+2 more
GUncertain significance
Translocation
Abnormal skull morphology
+2 more
GUncertain significance
Translocation
Dysarthria
+2 more
GPathogenic
Inversion
Hypoplastic left heart syndrome
GLikely pathogenic
Translocation
Global developmental delay
GLikely pathogenic
Translocation
Abnormal facial shape
+3 more
GPathogenic
Translocation
Autistic behavior
GPathogenic
Inversion
Autistic behavior
GPathogenic
Translocation
Congenital diaphragmatic hernia
GUncertain significance
Translocation
Autistic behavior
+2 more
GUncertain significance
Inversion
Autistic behavior
GUncertain significance
Translocation
Autistic behavior
GUncertain significance
Translocation
Autistic behavior
GUncertain significance
Translocation
Autistic behavior
GUncertain significance
Translocation
Choreoathetosis
+3 more
GUncertain significance
Inversion
Microtia
+1 more
GUncertain significance
Translocation
Mild global developmental delay
+5 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination