ClinVar Miner

List of variants in gene HMBS studied for anxiety

Included ClinVar conditions (16):

Abdominal pain; Anxiety; Elevated urinary delta-aminolevulinic acid; Acute episodes of neuropathic symptoms
Anxiety
Astigmatism; Global developmental delay; Failure to thrive; Micrognathia; Thin vermilion border; Narrow mouth; Anxiety; Attention deficit hyperactivity disorder
Autism; Autistic behavior; Delayed speech and language development; Anxiety; Joint laxity; Mild global developmental delay
Autism; Precocious puberty; Autistic behavior; Expressive language delay; Hyperactivity; Hearing impairment; Pes planus; Macrocephaly; Anxiety; Tremor; Attention deficit hyperactivity disorder
Autistic behavior; Growth delay; Agitation; Anxiety; Intellectual disability; Poor speech; Recurrent fractures; Reduced bone mineral density
Cerebellar ataxia; Anxiety; Attention deficit hyperactivity disorder
Cerebral palsy; Abnormal facial shape; Arachnoid cyst; Anxiety; Intellectual disability
Cleft upper lip; Motor delay; Enuresis; Abnormal skull morphology; Delayed speech and language development; Facial asymmetry; Anxiety; Intellectual disability, mild; Mild global developmental delay; Heart murmur
Cryptorchidism; Global developmental delay; Autistic behavior; Expressive language delay; Seizure; Failure to thrive; Growth delay; Receptive language delay; Abnormal facial shape; Unilateral renal agenesis; Anxiety; Missing ribs; Delayed gross motor development; Delayed fine motor development; Dilatation of the sinus of Valsalva
Delayed speech and language development; Specific learning disability; Anxiety; Irregular hyperpigmentation; Chronic constipation; Combined immunodeficiency
Hypotelorism; Low-set ears; Hypertonia; Nystagmus; Pointed chin; Protruding ear; Horizontal nystagmus; Anxiety; Phonophobia
Hypothyroidism; Anxiety; Polyarticular arthritis
Obesity; Motor delay; Self-injurious behavior; Sleep abnormality; Depression; Overgrowth; Delayed speech and language development; Macrocephaly; Emotional lability; Agitation; Anxiety; Sleep apnea; Mild global developmental delay
Seizure; Dyslexia; Delayed speech and language development; Compulsive behaviors; Anxiety; Attention deficit hyperactivity disorder
Short stature; Cognitive impairment; High palate; Distal arthrogryposis; Anxiety; Brisk reflexes; Abnormal autonomic nervous system physiology; Abnormality of the upper limb; Multiple joint contractures; Dislocated radial head; Abnormality of upper limb joint; Chronic pain; Abnormal upper limb bone morphology

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000190.4(HMBS):c.671T>C (p.Val224Ala)	rs963558406
NM_000190.4(HMBS):c.958del (p.Ala320fs)	rs1057518806

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.