ClinVar Miner

List of variants in gene CDH23 reported as likely pathogenic for ear malformation

Included ClinVar conditions (11):

Auriculocondylar syndrome
Auriculocondylar syndrome 1
Auriculocondylar syndrome 2
Auriculocondylar syndrome 2; Auriculocondylar syndrome 2B
Auriculocondylar syndrome 3
Auriculocondylar syndrome 4
Ear malformation
Ear malformation; Failure to thrive; Hypotelorism; High palate; Pes planus; Hypernasal speech; Delayed speech and language development; Triangular face; Intellectual disability, mild; Generalized hypotonia; Leukopenia; Normocytic anemia; Clinodactyly; Attention deficit hyperactivity disorder
Ear malformation; Olivopontocerebellar atrophy; Global developmental delay; Motor delay; Autistic behavior; Hearing impairment; Tall stature; Clinodactyly of the 5th finger; Delayed speech and language development; Hypoplastic nipples; Abnormal retinal vascular morphology; Generalized neonatal hypotonia; Abnormal number of hair whorls; Delayed myelination; Abnormality of the tonsils; Attention deficit hyperactivity disorder; Abnormal nasopharyngeal adenoid morphology
Epicanthus; Ear malformation; Global developmental delay; Autistic behavior; Abnormal facial shape; Absent speech; Joint laxity; Achalasia; Abnormal muscle tone; Hypoplasia of the frontal lobes; Abnormality of the gastrointestinal tract; EEG with abnormally slow frequencies; Prominent forehead; Delayed myelination
Question mark ears, isolated

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

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser)	rs780987516	0.00006
NM_022124.6(CDH23):c.2867A>G (p.Glu956Gly)	rs2132740263
NM_022124.6(CDH23):c.5908G>A (p.Glu1970Lys)	rs2132945762

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.