ClinVar Miner

List of variants reported as likely pathogenic for congenital nystagmus by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (48):

Abnormality of the nervous system; Nystagmus
Albinism; Nystagmus; Myopia
Astigmatism; Hamartoma of hypothalamus; Global developmental delay; Nystagmus; Hypermetropia; Opsoclonus
Autism; Global developmental delay; Autistic behavior; Micrognathia; Abnormal corpus callosum morphology; Nystagmus; Stereotypic movement disorder; Hypoplasia of the corpus callosum; Abnormal pinna morphology; Delayed speech and language development; Downslanted palpebral fissures; Proximal placement of thumb; Speech apraxia; Wide intermamillary distance; Microcephaly; Facial hypotonia; Generalized hypotonia; Abnormal cerebral white matter morphology; Downturned corners of mouth; Long toe; Moderate global developmental delay; Cerebral white matter hypoplasia; Long fingers
Autism; Global developmental delay; Nystagmus; Retinal dystrophy; Rod-cone dystrophy
Cataract; Nystagmus; Retinal dystrophy; High myopia
Cerebellar ataxia; Nystagmus; Cerebellar atrophy; Dysmetria; Slurred speech; Dysdiadochokinesis; Slightly reduced reflexes
Cerebellar ataxia; Spasticity; Nystagmus; Strabismus; Postaxial hand polydactyly; Postaxial foot polydactyly; Ventriculomegaly
Congenital cerebellar hypoplasia; Global developmental delay; Hypertonia; Nystagmus; Primary microcephaly
Congenital cerebellar hypoplasia; Seizure; Oligohydramnios; Nystagmus; Hypoplasia of the corpus callosum; Delayed gross motor development
Congenital nystagmus
Congenital ocular coloboma; Global developmental delay; Visual impairment; Nystagmus; Absent speech; Barrel-shaped chest; Kidney damage; Cerebellar vermis hypoplasia; Tremor; Pancreatitis; Cerebellar malformation; Peritonitis; Infantile muscular hypotonia; Intellectual disability, severe
Cryptorchidism; Esotropia; Plagiocephaly; Global developmental delay; Short stature; Inguinal hernia; Nystagmus; Attention deficit hyperactivity disorder
Developmental cataract; Nystagmus; Microcornea; Sclerocornea
Developmental cataract; Nystagmus; Microphthalmia; Microcornea
Dystonic disorder; Global developmental delay; Seizure; Nystagmus; Cerebellar cortical atrophy
Dystonic disorder; Nystagmus; Inability to walk
Epicanthus; Hypertelorism; Esotropia; High palate; Low-set ears; EEG abnormality; Iris coloboma; Nystagmus; Microphthalmia; Short neck; Amblyopia; Abnormality of visual evoked potentials; Lens subluxation
Epicanthus; Micrognathia; Posteriorly rotated ears; Hearing impairment; Feeding difficulties; Optic nerve hypoplasia; Tall stature; Nystagmus; Tracheomalacia; Stereotypic movement disorder; Abnormal facial shape; Delayed speech and language development; Depressed nasal bridge; Downslanted palpebral fissures; Short philtrum; Abnormality of eye movement; Impaired social interactions; Preaxial hand polydactyly; Decreased fetal movement; Broad toe; Generalized non-motor (absence) seizure; Ankle flexion contracture; Reduced visual acuity; Hypoplastic helices; 1-2 finger syndactyly; Intellectual disability, severe; Severe global developmental delay; Gastrostomy tube feeding in infancy; Thick vermilion border
Exudative retinopathy; Retinal detachment; Cataract; Nystagmus; Blindness; Rod-cone dystrophy; Progressive visual loss; Retinal exudate; Abnormality of retinal pigmentation; Monocular strabismus; Optic disc drusen
Global developmental delay; Diarrhea; Nystagmus; Retinal dystrophy; Severely reduced visual acuity; Developmental regression; Gastrointestinal dysmotility
Global developmental delay; Expressive language delay; Seizure; Failure to thrive; Feeding difficulties; Growth delay; Nystagmus; Cerebral visual impairment; Strabismus; Intellectual disability; Limb hypertonia; Inability to walk; Multifocal epileptiform discharges; Hypotonia
Global developmental delay; Expressive language delay; Seizure; Failure to thrive; Growth delay; Nystagmus; Strabismus; Developmental regression; Limb hypertonia; Inability to walk; Multifocal epileptiform discharges; EEG with generalized epileptiform discharges; Hypotonia
Global developmental delay; Nystagmus; Intellectual disability; Elbow flexion contracture; Knee flexion contracture; Cerebral hypomyelination; Hypotonia
Global developmental delay; Seizure; Cataract; Nystagmus; Strabismus; Abnormal thorax morphology; Intellectual disability
Global developmental delay; Seizure; Nystagmus; Microcephaly
Hypertelorism; Visual impairment; Nystagmus
Hypotelorism; Low-set ears; Hypertonia; Nystagmus; Pointed chin; Protruding ear; Horizontal nystagmus; Anxiety; Phonophobia
Iris coloboma; Nystagmus; Generalized hypotonia; Cerebellar vermis hypoplasia
Leigh syndrome; Nystagmus; Lactic acidosis; Hypertrophic cardiomyopathy; Severe global developmental delay; Decreased activity of mitochondrial complex I
Leukodystrophy; Status epilepticus; Global developmental delay; Seizure; Fetal growth restriction; EEG abnormality; Nystagmus; Hemiparesis; Strabismus; Progressive visual loss; Amblyopia; Small for gestational age; Breech presentation; Neonatal hypoglycemia; Developmental regression; Loss of ambulation; EMG abnormality; EMG: axonal abnormality; Dysmyelinating leukodystrophy
Lissencephaly; Global developmental delay; Hypertonia; Nystagmus; Absent speech; Microcephaly; Strabismus
Motor delay; Seizure; Nystagmus; Abnormal facial shape; Absent speech; Delayed speech and language development; Myopia; Penile hypospadias; Recurrent otitis media; Retinal coloboma; Abnormal periventricular white matter morphology; Mild conductive hearing impairment; Severe global developmental delay
Nystagmus 1, congenital, X-linked
Nystagmus 1, congenital, X-linked; Simpson-Golabi-Behmel syndrome type 1
Nystagmus 6, congenital, X-linked
Nystagmus, congenital, autosomal recessive
Nystagmus; Abnormal electroretinogram
Nystagmus; Molar tooth sign on MRI; Central hypotonia
Nystagmus; Reduced eye contact; Ocular albinism
Ocular albinism, type I; Nystagmus 6, congenital, X-linked
Pectus excavatum; Nystagmus; Microcephaly; Hypotonia; visual disturbance
Persistent hyperplastic primary vitreous; Nystagmus; Short lingual frenulum; High myopia
Polydactyly; Nystagmus; Hypotonia
Pulmonary valve stenosis; Short stature; Failure to thrive; Scoliosis; Nystagmus; Microcephaly; Intellectual disability; Gray matter heterotopia; Parietal foramina; Proportionate short stature; Intellectual disability, severe
Seizure; Nystagmus; Dysarthria; Myoclonus; Tremor
Spastic ataxia; Choreoathetosis; Nystagmus; Dysarthria; Oculomotor apraxia; Intellectual disability; Cerebellar atrophy; Dysmetria; Tremor; Peripheral neuropathy
Spinocerebellar ataxia 27A

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)	rs201893408	0.00009
NM_000153.4(GALC):c.850G>A (p.Gly284Ser)	rs377274761	0.00003
NM_001379500.1(COL18A1):c.929-2A>G	rs765919785	0.00003
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)	rs752362727	0.00002
NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser)	rs758361736	0.00001
NM_000153.4(GALC):c.196G>A (p.Ala66Thr)	rs1057518843
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del)	rs552184470
NM_000266.4(NDP):c.314C>T (p.Ala105Val)	rs1057518836
NM_000273.3(GPR143):c.12_36del (p.Leu6fs)	rs1057518787
NM_001367721.1(CASK):c.2236+1delinsAT	rs1555975523
NM_001367721.1(CASK):c.2521-2A>G	rs398122845
NM_001379500.1(COL18A1):c.3448C>T (p.Arg1150Ter)	rs1057518802
NM_002547.3(OPHN1):c.746T>C (p.Leu249Pro)	rs1057518963
NM_021728.4(OTX2):c.191_193delinsGG (p.Leu64fs)	rs1555350397
NM_153704.6(TMEM67):c.2418_2423dup (p.805_806MN[3])	rs1554558365

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