ClinVar Miner

List of intergenic variants reported as pathogenic for Global developmental delay; Autistic behavior; Behavioral abnormality; Feeding difficulties; Oligohydramnios; Brachycephaly; Stereotypy; Abnormal facial shape; Delayed speech and language development; Downslanted palpebral fissures; Feeding difficulties in infancy; Protruding ear; Short philtrum; Specific learning disability; Thin upper lip vermilion; Microcephaly; Prominent nasal bridge; Psychosis; Inflexible adherence to routines or rituals; Brisk reflexes; Severe failure to thrive; Chronic diarrhea; Intention tremor; Poor speech; High, narrow palate; Tics; Abnormal emotion/affect behavior; Anteverted ears; Attention deficit hyperactivity disorder; Muscular hypotonia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
46;XY;t(3;18)(q13.31;q22.1)dn

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