ClinVar Miner

Variants from Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital

Location: China  Primary collection method: case-control
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
124 53 6 17 0 198

Gene and significance breakdown #

Total genes and gene combinations: 56
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
SLC26A4 14 13 0 0 27
POLR2F, SOX10 17 2 0 0 19
MITF 13 2 0 0 14
GJB2 9 3 0 2 13
MYO15A 5 6 2 0 13
PAX3 11 1 0 0 12
PTPN11 9 0 0 0 9
MYO7A 4 2 0 1 7
ADGRV1 4 2 0 0 6
OTOA 3 0 2 0 5
MPZL2 3 1 0 0 4
TBCEL-TECTA, TECTA 1 0 0 3 4
TRIOBP 2 2 0 0 4
CDH23 2 1 0 0 3
ERCC2 3 0 0 0 3
MYO3A 2 1 0 0 3
OTOF 2 1 0 0 3
PCDH15 2 1 0 0 3
TMC1 3 0 0 0 3
COL1A1 0 0 0 2 2
DSPP 0 1 0 1 2
LOC123956210, SLC26A4 0 2 0 0 2
LOXHD1 0 0 2 0 2
USH1C 1 1 0 0 2
USH2A 2 0 0 0 2
ACTG1 0 1 0 0 1
ANAPC15, LRTOMT, TOMT 0 1 0 0 1
ANKRD54, BAIAP2L2, C22orf23, EIF3L, GALR3, GCAT, H1-0, MICALL1, MIR659, PICK1, PLA2G6, POLR2F, SLC16A8, SOX10, TRIOBP 1 0 0 0 1
C10orf105, CDH23 1 0 0 0 1
CLDN14 0 1 0 0 1
COL9A2 0 0 0 1 1
DIAPH1 0 0 0 1 1
EDNRB 0 1 0 0 1
EPHA4, PAX3 1 0 0 0 1
ERCC3 1 0 0 0 1
FGF3 0 1 0 0 1
FGFR3 0 1 0 0 1
GIPC3 1 0 0 0 1
GJB3 1 0 0 0 1
ILDR1 1 0 0 0 1
KCNQ1 0 1 0 0 1
KCNQ4 0 1 0 0 1
LOC130003093, TPRN 1 0 0 0 1
MARVELD2 0 1 0 0 1
NDRG1 0 0 0 1 1
POU3F4 1 0 0 0 1
PROKR2 0 0 0 1 1
SALL1 0 0 0 1 1
SIX1 0 0 0 1 1
STRC 0 1 0 0 1
TBC1D24 0 0 0 1 1
TMPRSS3 1 0 0 0 1
TNC 0 0 0 1 1
TPRN 0 1 0 0 1
USH1G 1 0 0 0 1
WHRN 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 53
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign total
Autosomal recessive nonsyndromic hearing loss 4 14 15 0 0 29
Waardenburg syndrome type 2E 18 2 0 0 20
Waardenburg syndrome type 1 12 2 0 0 14
Waardenburg syndrome type 2A 13 1 0 0 14
Autosomal recessive nonsyndromic hearing loss 1A 10 3 0 0 13
Autosomal recessive nonsyndromic hearing loss 3 5 6 2 0 13
Noonan syndrome 1 7 0 0 0 7
Autosomal recessive nonsyndromic hearing loss 2 4 2 0 0 6
Usher syndrome type 2C 4 2 0 0 6
Autosomal recessive nonsyndromic hearing loss 22 3 0 2 0 5
Autosomal recessive nonsyndromic hearing loss 12 3 1 0 0 4
Autosomal recessive nonsyndromic hearing loss 28 2 2 0 0 4
Hearing loss, autosomal recessive 111 3 1 0 0 4
Autosomal dominant nonsyndromic hearing loss 12 0 0 0 3 3
Autosomal recessive nonsyndromic hearing loss 23 2 1 0 0 3
Autosomal recessive nonsyndromic hearing loss 30 2 1 0 0 3
Autosomal recessive nonsyndromic hearing loss 7 3 0 0 0 3
Autosomal recessive nonsyndromic hearing loss 9 2 1 0 0 3
Xeroderma pigmentosum, group D 3 0 0 0 3
Autosomal dominant nonsyndromic hearing loss 3A 0 0 0 2 2
Autosomal recessive nonsyndromic hearing loss 18A 1 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 77 0 0 2 0 2
Autosomal recessive nonsyndromic hearing loss 79 1 1 0 0 2
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 0 1 0 1 2
LEOPARD syndrome 1 2 0 0 0 2
Osteogenesis imperfecta, recessive perinatal lethal 0 0 0 2 2
Usher syndrome type 2A 2 0 0 0 2
not specified 0 0 0 2 2
Autosomal dominant nonsyndromic hearing loss 1 0 0 0 1 1
Autosomal dominant nonsyndromic hearing loss 11 0 0 0 1 1
Autosomal dominant nonsyndromic hearing loss 20 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 23 0 0 0 1 1
Autosomal dominant nonsyndromic hearing loss 2A 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 56 0 0 0 1 1
Autosomal dominant nonsyndromic hearing loss 65 0 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 15 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 16 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 21 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 29 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 31 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 42 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 49 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 63 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 8 1 0 0 0 1
Camptodactyly-tall stature-scoliosis-hearing loss syndrome 0 1 0 0 1
Deafness with labyrinthine aplasia, microtia, and microdontia 0 1 0 0 1
Hypogonadotropic hypogonadism 3 with or without anosmia 0 0 0 1 1
Long QT syndrome 1 0 1 0 0 1
Stickler syndrome, type 5 0 0 0 1 1
Usher syndrome type 1G 1 0 0 0 1
Waardenburg syndrome type 4A 0 1 0 0 1
X-linked mixed hearing loss with perilymphatic gusher 1 0 0 0 1
Xeroderma pigmentosum group B 1 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.