ClinVar Miner

List of variants studied for nipples inverted

Included ClinVar conditions (3):

Epicanthus; Inversion of nipple; Cerebellar ataxia; Atypical behavior; Focal-onset seizure; Hypermetropia; Pes planus; Short philtrum; Macrocephaly; Generalized-onset seizure; Moderate global developmental delay
Hypertelorism; Keloid formation; Inversion of nipple; Global developmental delay; Seizure; Feeding difficulties; Vomiting; EEG abnormality; Anteverted nares; Cafe-au-lait spot; Conductive hearing impairment; Decreased testicular size; Delayed speech and language development; Wide nasal bridge; Thin upper lip vermilion; Recurrent otitis media; Downturned corners of mouth; Clinodactyly of the 3rd toe; Finger clinodactyly; Small scrotum; Hypotonia
Inversion of nipple; Global developmental delay; Short stature; Failure to thrive; Abnormal facial shape; Agenesis of permanent teeth; Cafe-au-lait spot; Delayed speech and language development; Prominent nose; Numerous nevi; Decreased body weight; Attached earlobe; Prominent digit pad; Hypotonia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
46;XX;t(1;2)(q42.3;q24.2)dn
46;XY;inv(6)(q22.2q27)dn
NM_002235.5(KCNA6):c.1367T>A (p.Val456Asp)

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.