Variants from INGEBI, INGEBI / CONICET

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:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
46	7	13	4	8	78

Gene and significance breakdown #

Total genes and gene combinations: 20

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
GJB2	25	4	9	4	5	47
CDH23	1	1	0	0	1	3
COL4A5	1	0	2	0	0	3
ADGRV1	2	0	0	0	0	2
COL4A3, MFF-DT	1	0	1	0	0	2
LARS2	2	0	0	0	0	2
MYO6	0	1	1	0	0	2
MYO7A	2	0	0	0	0	2
TMPRSS3	2	0	0	0	0	2
USH2A	2	0	0	0	0	2
WFS1	0	1	0	0	1	2
ACTG1	1	0	0	0	0	1
C10orf105, CDH23	1	0	0	0	0	1
CRYL1, GJB6	1	0	0	0	0	1
EYA4	1	0	0	0	0	1
GSDME	0	0	0	0	1	1
LOXHD1	1	0	0	0	0	1
MITF	1	0	0	0	0	1
STRC	1	0	0	0	0	1
TBCEL-TECTA, TECTA	1	0	0	0	0	1

Condition and significance breakdown #

Total conditions: 6

Download table as spreadsheet

Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Nonsyndromic genetic hearing loss	38	7	12	4	8	69
Autosomal dominant Alport syndrome	1	0	1	0	0	2
Hereditary palmoplantar keratoderma; Nonsyndromic genetic hearing loss	2	0	0	0	0	2
Usher syndrome type 1D	2	0	0	0	0	2
Usher syndrome type 2C	2	0	0	0	0	2
X-linked Alport syndrome	1	0	0	0	0	1

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.