ClinVar Miner

List of variants in gene NSD1 studied for Autistic disorder of childhood onset; Cryptorchidism; Hypertelorism; Cleft uvula; Seizures; Cognitive impairment; Scoliosis; Patent foramen ovale; Prominent supraorbital ridges; Hypermetropia; Disproportionate tall stature; Pectus carinatum; Highly arched eyebrow; Overfolding of the superior helices; Talipes valgus; Chronic lung disease; Midface retrusion; Cleft palate

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter) rs587784105

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