ClinVar Miner

Variants from Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center

Location: Germany  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
24 92 300 16 5 437

Gene and significance breakdown #

Total genes and gene combinations: 117
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ADGRV1 0 3 17 1 0 21
MYO15A 3 5 11 0 0 19
MYO7A 1 1 17 0 0 19
CDH23 0 5 11 1 0 17
LOXHD1 0 7 7 1 0 15
USH2A 1 1 12 1 0 15
SLC26A4 5 3 5 1 0 14
TMPRSS3 1 6 7 0 0 14
TBCEL-TECTA, TECTA 0 2 9 1 0 12
COL11A2 0 0 10 1 0 11
GJB2 7 3 1 0 0 11
COL11A1 0 4 6 0 0 10
MYO6 0 2 8 0 0 10
OTOF 0 2 7 0 0 9
TRIOBP 0 1 6 1 0 8
MYH14 0 0 6 0 1 7
OTOG 0 1 6 0 0 7
PDZD7 0 0 7 0 0 7
USH1C 0 1 6 0 0 7
COL4A3, MFF-DT 1 1 4 0 0 6
ALMS1 0 2 3 0 0 5
CLDN14 0 2 3 0 0 5
COCH 0 2 3 0 0 5
DIAPH1 0 2 2 1 0 5
OTOGL 0 0 5 0 0 5
PTPRQ 0 0 4 0 1 5
TNC 0 0 4 1 0 5
WFS1 0 4 1 0 0 5
CACNA1D 0 1 3 0 0 4
CHD7 0 0 3 1 0 4
CLRN1 0 2 2 0 0 4
DIAPH3 0 1 3 0 0 4
GIPC3 0 0 4 0 0 4
ILDR1 0 1 3 0 0 4
PCDH15 0 0 4 0 0 4
POU4F3, RBM27-POU4F3 0 1 2 1 0 4
TJP2 0 1 3 0 0 4
WHRN 0 0 3 1 0 4
ATP6V1B1 0 0 3 0 0 3
CEACAM16 0 0 3 0 0 3
COL2A1 0 1 1 0 1 3
COL9A1 0 0 3 0 0 3
MYH9 0 0 2 0 1 3
MYO3A 0 1 2 0 0 3
SIX1 0 0 3 0 0 3
ACTG1 0 1 1 0 0 2
BSND 1 0 1 0 0 2
CLDN9 0 0 2 0 0 2
COL4A5 0 1 1 0 0 2
COL9A3 0 0 2 0 0 2
EDNRB 0 1 1 0 0 2
EYA1 0 0 2 0 0 2
EYA4, TARID 0 1 1 0 0 2
FOXI1 0 1 1 0 0 2
GATA3 0 1 1 0 0 2
KARS1 0 0 1 1 0 2
KCNQ4 0 1 1 0 0 2
LHFPL5 0 1 1 0 0 2
LOC126806529, PAX3 0 0 2 0 0 2
MANBA 0 1 1 0 0 2
MARVELD2 0 2 0 0 0 2
PJVK 0 0 2 0 0 2
POLR1C 0 0 2 0 0 2
POLR2F, SOX10 1 0 1 0 0 2
RDX 0 0 2 0 0 2
SERPINB6 0 0 2 0 0 2
SLITRK6 0 0 2 0 0 2
SMPX 0 1 1 0 0 2
STRC 2 0 0 0 0 2
TCOF1 0 0 1 1 0 2
ABHD12 0 0 1 0 0 1
ALMS1, LOC126806252 0 0 1 0 0 1
ATP2B2 0 0 1 0 0 1
B3GNT4, DIABLO 0 0 1 0 0 1
BDP1 0 0 1 0 0 1
C10orf105, CDH23 0 0 1 0 0 1
CABP2 0 0 1 0 0 1
CIB2 1 0 0 0 0 1
CLCC1, GPSM2 0 0 1 0 0 1
CLIC5 0 0 1 0 0 1
COL11A1, LOC126805814 0 0 1 0 0 1
COL4A4 0 0 1 0 0 1
COL9A2 0 1 0 0 0 1
COL9A3, LOC126863084 0 0 1 0 0 1
DMXL2 0 0 0 1 0 1
EDNRB, LOC107882129 0 1 0 0 0 1
ESRRB 0 0 1 0 0 1
EYA4 0 0 1 0 0 1
GJB6 0 0 1 0 0 1
GRHL2 0 0 1 0 0 1
GRXCR1 0 1 0 0 0 1
GSDME 0 0 1 0 0 1
HGF 0 0 1 0 0 1
KARS1, LOC126862402 0 0 1 0 0 1
KCNQ1 0 0 1 0 0 1
LOC123956210, SLC26A4 0 1 0 0 0 1
LOC126860740, TNC 0 0 1 0 0 1
LOC126861365, TBCEL-TECTA, TECTA 0 1 0 0 0 1
LOC126863145, TRIOBP 0 0 1 0 0 1
LRTOMT, TOMT 0 0 1 0 0 1
MIR96 0 0 1 0 0 1
MITF 0 1 0 0 0 1
NDP 0 1 0 0 0 1
NLRP3 0 0 0 0 1 1
OTOA 0 0 1 0 0 1
PAX3 0 1 0 0 0 1
POLR1D 0 0 1 0 0 1
SEMA3F 0 0 1 0 0 1
SLC26A5 0 0 1 0 0 1
SPNS2 0 0 1 0 0 1
TFAP2A 0 1 0 0 0 1
TMC1 0 0 1 0 0 1
TMIE 0 1 0 0 0 1
TPRN 0 0 1 0 0 1
TSPEAR 0 0 1 0 0 1
TYR 0 0 1 0 0 1
USH1G 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 11
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hearing impairment 18 79 283 14 5 399
Pendred syndrome 3 3 3 0 0 9
Stickler syndrome 0 3 2 1 0 6
Usher syndrome 1 0 4 0 0 5
Beta-D-mannosidosis 0 1 2 1 0 4
Waardenburg syndrome 0 3 1 0 0 4
Alport syndrome 1 0 2 0 0 3
Melnick-Fraser syndrome 0 2 1 0 0 3
Down syndrome 0 0 2 0 0 2
Abnormal activity of mitochondrial respiratory chain 0 1 0 0 0 1
Waardenburg syndrome type 4C 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.