ClinVar Miner

List of intergenic variants reported as pathogenic for Failure to thrive; Weight loss; Feeding difficulties; Growth delay; Brachycephaly; Deeply set eye; Pointed chin; Narrow mouth; Agitation; Nephrolithiasis; Poor eye contact; Panhypopituitarism; Lower limb spasticity; Generalized myoclonic seizures; Episodic abdominal pain; Limb joint contracture; Upper limb spasticity; Prominent forehead; Severe global developmental delay; Decreased activity of mitochondrial complex III; Flat midface

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
46;X;t(X;5)(q24;q13)dn

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