ClinVar Miner

List of variants in gene SHANK2 reported as likely benign for autism spectrum disorder

Included ClinVar conditions (38):

Autism spectrum disorder
Autistic disorder of childhood onset
Autistic disorder of childhood onset; ACTL6B-related dominant intellectual disability
Autistic disorder of childhood onset; Attention deficit hyperactivity disorder
Autistic disorder of childhood onset; Corpus callosum, agenesis of; Hypertrichosis; Broad thumb; Delayed speech and language development
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
Autistic disorder of childhood onset; Cryptorchidism; Pulmonic stenosis (disease); Sensorineural hearing loss; Global developmental delay; Scoliosis; Hemivertebrae; Bilateral cleft lip and palate; Rib fusion; Abnormality of the sternum; Bilateral cleft palate; Delayed speech and language development; Renal agenesis; Unilateral renal agenesis; Strabismus; Severe visual impairment; Relative macrocephaly; Bilateral cleft lip; Cleft palate
Autistic disorder of childhood onset; Delayed speech and language development
Autistic disorder of childhood onset; Focal seizures; Intellectual disability
Autistic disorder of childhood onset; Focal seizures; Microcephaly
Autistic disorder of childhood onset; Global developmental delay
Autistic disorder of childhood onset; Global developmental delay; Autistic behavior; Micrognathia; Abnormality of the corpus callosum; Nystagmus; Stereotypy; Hypoplasia of the corpus callosum; Abnormality of the pinna; Delayed speech and language development; Downslanted palpebral fissures; Proximal placement of thumb; Speech apraxia; Wide intermamillary distance; Microcephaly; Facial hypotonia; Generalized hypotonia; Abnormality of the cerebral white matter; Downturned corners of mouth; Long toe; Moderate global developmental delay; Cerebral white matter hypoplasia; Long fingers
Autistic disorder of childhood onset; Global developmental delay; Cognitive impairment; Delayed speech and language development; Intellectual disability, moderate
Autistic disorder of childhood onset; Global developmental delay; Cone dystrophy
Autistic disorder of childhood onset; Global developmental delay; Delayed speech and language development
Autistic disorder of childhood onset; Global developmental delay; Feeding difficulties; Delayed speech and language development; Microcephaly; Abnormality of eye movement; Generalized hypotonia; Gastroesophageal reflux; Neurological speech impairment; Muscular hypotonia
Autistic disorder of childhood onset; Global developmental delay; Generalized hypotonia; Intellectual disability, severe
Autistic disorder of childhood onset; Global developmental delay; Nystagmus; Retinal dystrophy; Rod-cone dystrophy
Autistic disorder of childhood onset; Global developmental delay; Seizures
Autistic disorder of childhood onset; Global developmental delay; Seizures; Cognitive impairment; Cortical visual impairment; Microcephaly; Developmental regression; Infantile spasms
Autistic disorder of childhood onset; Intellectual disability
Autistic disorder of childhood onset; Intellectual disability, mild
Autistic disorder of childhood onset; Intellectual disability, mild; Myoclonus
Autistic disorder of childhood onset; Intellectual disability; Abnormality of the cerebral white matter
Autistic disorder of childhood onset; Intellectual disability; Attention deficit hyperactivity disorder
Autistic disorder of childhood onset; Macroglossia; Global developmental delay; Seizures; Hallux valgus; Cognitive impairment; Aggressive behavior; Coarse facial features; Mandibular prognathia; 2-3 toe syndactyly; Bulbous nose; Frontal bossing; Thick lower lip vermilion; Widely spaced teeth; Intellectual disability; Short toe; Clinodactyly of the 5th toe; Intellectual disability, profound; Abnormal aggressive, impulsive or violent behavior; Slit-like opening of the exterior auditory meatus; Shortening of all phalanges of fingers; Profound global developmental delay
Autistic disorder of childhood onset; Micrognathia; Low-set ears; Delayed speech and language development; Narrow forehead; Wide nasal bridge; Intellectual disability, mild; Delayed fine motor development
Autistic disorder of childhood onset; Microtia
Autistic disorder of childhood onset; Motor delay; Iris coloboma; Delayed speech and language development; Abnormality of vision
Autistic disorder of childhood onset; Neurodegeneration; Photosensitive tonic-clonic seizures; Intellectual disability, severe
Autistic disorder of childhood onset; Pectus excavatum; Esotropia; Global developmental delay; Seizures; Short stature; Failure to thrive; Deeply set eye; Clinodactyly of the 5th finger; Impaired use of nonverbal behaviors; Generalized hypotonia; Chorea; Postnatal microcephaly; Focal white matter lesions
Autistic disorder of childhood onset; Schizophrenia
Autistic disorder of childhood onset; Seizures
Autistic disorder of childhood onset; Seizures; Cafe-au-lait spot; Joint laxity
Autistic disorder of childhood onset; Seizures; Delayed speech and language development
Autistic disorder of childhood onset; Seizures; Intellectual disability
Autistic disorder of childhood onset; Severe intellectual deficiency
Autistic disorder of childhood onset; Short attention span; Delayed speech and language development; Long face; Strabismus; Intellectual disability; Generalized joint laxity; Prominent forehead

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: 10

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HGVS	dbSNP
NM_012309.4(SHANK2):c.*1597T>G	rs2154625
NM_012309.4(SHANK2):c.*2583T>C	rs55678639
NM_012309.4(SHANK2):c.*4102C>G	rs61885874
NM_012309.4(SHANK2):c.*4377A>T	rs513996
NM_012309.4(SHANK2):c.-36A>G	rs3020047
NM_012309.4(SHANK2):c.336C>T (p.Asp112=)	rs76014490
NM_012309.4(SHANK2):c.385G>A (p.Val129Met)	rs73521173
NM_012309.4(SHANK2):c.483+13C>T	rs117706585
NM_012309.4(SHANK2):c.483+14G>A	rs75938961
NM_012309.4(SHANK2):c.520C>T (p.Arg174Cys)	rs7926203

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