ClinVar Miner

List of intergenic variants reported as likely pathogenic for Global developmental delay; Expressive language delay; Short stature; Failure to thrive; Upslanted palpebral fissure; Feeding difficulties; Abnormal facial shape; Delayed speech and language development; Single transverse palmar crease; Thin upper lip vermilion; Long eyelashes; Hypoplastic toenails; Clinodactyly of the 5th toe; Decreased body weight; Persistent open anterior fontanelle; Relative macrocephaly; Prominent forehead

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(7;15)(q21;q26)dn

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