ClinVar Miner

List of variants reported as pathogenic for third cranial nerve disorder by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (16):

Cryptorchidism; Duane retraction syndrome; Atrial septal defect; Global developmental delay; Abnormal cardiovascular system morphology; Scoliosis; Growth delay; Proximal muscle weakness in lower limbs; Chronic constipation; Ventricular septal defect; Asthma
Dandy-Walker syndrome; Congenital laryngomalacia; Sensorineural hearing loss disorder; Duane retraction syndrome; Global developmental delay; Micrognathia; Hydronephrosis; Feeding difficulties; Abnormality of the diaphragm; Abnormality of the vertebral column; Hydroureter; Arachnodactyly; Microglossia; Night blindness; Cerebellar vermis hypoplasia; Abnormality of the cervical spine; Diaphragmatic eventration; Small hand; Cleft palate
Duane retraction syndrome
Duane retraction syndrome 2
Duane retraction syndrome 3 with or without deafness
Duane syndrome type 1
Duane syndrome type 1; Duane retraction syndrome 2
Duane syndrome type 1; Hypotonia, ataxia, and delayed development syndrome
Fibrosis of extraocular muscles, congenital, 5
Frontotemporal dementia; Parkinson disease, late-onset; Progressive supranuclear palsy-parkinsonism syndrome; Pick disease; Progressive supranuclear ophthalmoplegia
Frontotemporal dementia; Parkinson disease, late-onset; Progressive supranuclear palsy-parkinsonism syndrome; Pick disease; Supranuclear palsy, progressive, 1
Multicentric carpo-tarsal osteolysis with or without nephropathy; Duane retraction syndrome 3 with or without deafness
Oromandibular-limb hypogenesis spectrum
Progressive supranuclear ophthalmoplegia
Progressive supranuclear palsy-parkinsonism syndrome
Supranuclear palsy, progressive, 1

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp)	rs63750424	0.00002
NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys)	rs63750756
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu)	rs63751273
NM_005461.5(MAFB):c.176C>T (p.Pro59Leu)

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