ClinVar Miner

List of variants in gene KANK1 reported as benign for cerebral cortex disorder

Included ClinVar conditions (24):

Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3
Alzheimer disease 3; Frontotemporal dementia; Pick disease; Dilated cardiomyopathy 1U; Acne inversa, familial, 3
Autism spectrum disorder; Neurodevelopmental disorder; Focal sensory seizure with somatosensory features
Cerebral palsy
Cerebral palsy, spastic quadriplegic, 2
Cerebral palsy, spastic quadriplegic, 3
Cerebral palsy; Abnormal facial shape; Arachnoid cyst; Anxiety; Intellectual disability
Cerebral palsy; Hearing impairment; Neurodevelopmental delay
Cerebral palsy; Intellectual disability
Cerebral palsy; Seizure; Intellectual disability
Congenital cerebellar hypoplasia; Cerebellar ataxia; Cerebral palsy; Cerebral atrophy; Spasticity; Poor speech
Epicanthus; Global developmental delay; Cerebral palsy; Seizure; EEG abnormality; Abnormal facial shape; Depressed nasal bridge; Short philtrum; Impaired social interactions; Myoclonus; Abnormal cerebral white matter morphology; Medial flaring of the eyebrow; Tip-toe gait; Hypotonia
Failure to thrive; Congenital blindness; Spastic hemiparesis
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
Frontotemporal dementia; Pick disease; Progressive supranuclear ophthalmoplegia
Global developmental delay; Cerebral palsy; Visual impairment
Global developmental delay; Failure to thrive; Spastic tetraplegia; Optic atrophy; Axial hypotonia; Death in infancy; High CSF lactic acid; Neurodegeration
Global developmental delay; Motor delay; Cerebral palsy; Axial hypotonia; Absent speech; Polymicrogyria; Delayed gross motor development; Tetraparesis; Abnormal periventricular white matter morphology; Diffuse white matter abnormalities; Infantile axial hypotonia
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
Pick disease
Spastic cerebral palsy
Spastic diplegia
Spastic tetraplegia

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_015158.5(KANK1):c.624C>G (p.Ala208=)	rs116178720	0.01172
NM_015158.5(KANK1):c.3870C>T (p.Pro1290=)	rs115758363	0.00053
NM_015158.5(KANK1):c.3554-9_3554-5del	rs58169581

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