ClinVar Miner

List of variants in gene ARID1B reported as uncertain significance for bowel dysfunction

Included ClinVar conditions (13):

Anonychia; Failure to thrive; Constipation; Abnormality of the dentition; Abnormality of the skin; Nail pterygium; Sparse scalp hair; Discolored lateral incisors; Abnormal blistering of the skin; Nail dystrophy; Abnormal skin morphology; Generalized abnormality of skin; Irregular dentition; Hyperkeratotic papule
Cataract; Constipation; Urinary incontinence; Apraxia; Strabismus; Generalized hypotonia
Cryptorchidism; Triphalangeal thumb; Inguinal hernia; Feeding difficulties; Hemivertebrae; Constipation; Oligohydramnios; Hydroureter; Abnormal facial shape; Penile hypospadias; Strabismus; Intellectual disability; Generalized hypotonia; Mitral stenosis; Fetal pyelectasis; Patent ductus arteriosus after premature birth; Perimembranous ventricular septal defect; Neurodevelopmental delay; Bicuspid aortic valve
Epicanthus; Pectus excavatum; Pulmonic stenosis; Motor delay; Autistic behavior; Constipation; Hypertonia; Ptosis; Hypermetropia; Macrotia; Abnormal facial shape; Delayed speech and language development; Prominent nose; Specific learning disability; Thin upper lip vermilion; Microcephaly; Overfolded helix; Recurrent otitis media; Prominent nasal bridge; Delayed closure of the anterior fontanelle; Broad foot; Dyscalculia; Finger syndactyly
Global developmental delay; Constipation; Abnormal facial shape; Recurrent urinary tract infections; Vesicoureteral reflux; Generalized hypotonia; Growth abnormality
Global developmental delay; Expressive language delay; Short stature; Enuresis; Feeding difficulties; Constipation; Receptive language delay; Tapered finger; Atrial septal defect, ostium secundum type; Clinodactyly of the 5th finger; Specific learning disability; Facial asymmetry; Increased red blood cell mass; Poor suck; Delayed skeletal maturation; Proportionate shortening of all digits; Abnormal facial skeleton morphology; Tics; Attention deficit hyperactivity disorder
Hypertelorism; Tetralogy of Fallot; Short stature; Hypothyroidism; Constipation; Gingival overgrowth; Joint hypermobility; Thick vermilion border
Migraine; Constipation; Abnormal blistering of the skin; Abnormal urinary color
Muscular dystrophy; Seizure; Short chin; Feeding difficulties; High palate; Constipation; Eczematoid dermatitis; Hip dislocation; Abnormal facial shape; Anteverted nares; Downslanted palpebral fissures; Protruding ear; Specific learning disability; Sparse and thin eyebrow; Congenital diaphragmatic hernia; Talipes; Tachypnea; Abnormality of mouth shape; Hypotonia
Pulmonic stenosis; Atrial septal defect; Autistic behavior; Aggressive behavior; Constipation; Aspiration; Coarse facial features; Delayed speech and language development; Emotional lability; Dry skin; Thickened skin; Severe global developmental delay; Asthma
Seizure; Failure to thrive; Constipation; Spasticity; Microcephaly; Intellectual disability; Severe global developmental delay; Hypotonia
Seizure; Short stature; Failure to thrive; Constipation; Recurrent respiratory infections; Microcephaly; Decreased body weight
Sudden cardiac death; Failure to thrive; Constipation; Jaundice; Generalized hypotonia; Infantile onset; Neonatal onset

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: 1

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)	rs797045277

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.