Department of Otolaryngology – Head & Neck Surgery (Cochlear Implant Center), HNO
General information
Personnel
- Anke Tropitzsch, Contact
Phone: +49-7071-29-88088
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 437
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABHD12 | 1 | Aug 17, 2021 |
| ACTG1 | 2 | Aug 17, 2021 |
| ADGRV1 | 21 | Aug 17, 2021 |
| ALMS1 | 6 | Aug 17, 2021 |
| ATP2B2 | 1 | Aug 17, 2021 |
| ATP6V1B1 | 3 | Aug 17, 2021 |
| B3GNT4 | 1 | Aug 17, 2021 |
| BDP1 | 1 | Aug 17, 2021 |
| BSND | 2 | Aug 17, 2021 |
| C10orf105 | 1 | Aug 17, 2021 |
| CABP2 | 1 | Aug 17, 2021 |
| CACNA1D | 4 | Aug 17, 2021 |
| CDH23 | 18 | Aug 17, 2021 |
| CEACAM16 | 3 | Aug 17, 2021 |
| CEACAM16-AS1 | 3 | Aug 17, 2021 |
| CHD7 | 4 | Aug 17, 2021 |
| CIB2 | 1 | Aug 17, 2021 |
| CLCC1 | 1 | Aug 17, 2021 |
| CLDN14 | 5 | Aug 17, 2021 |
| CLDN14-AS1 | 5 | Aug 17, 2021 |
| CLDN9 | 2 | Aug 17, 2021 |
| CLIC5 | 1 | Aug 17, 2021 |
| CLRN1 | 4 | Aug 17, 2021 |
| CLRN1-AS1 | 1 | Aug 17, 2021 |
| COCH | 5 | Aug 17, 2021 |
| COL11A1 | 11 | Aug 17, 2021 |
| COL11A2 | 11 | Aug 17, 2021 |
| COL2A1 | 3 | Aug 17, 2021 |
| COL4A3 | 6 | Aug 17, 2021 |
| COL4A4 | 1 | Aug 17, 2021 |
| COL4A5 | 2 | Aug 17, 2021 |
| COL9A1 | 3 | Aug 17, 2021 |
| COL9A2 | 1 | Aug 17, 2021 |
| COL9A3 | 3 | Aug 17, 2021 |
| DIABLO | 1 | Aug 17, 2021 |
| DIAPH1 | 5 | Aug 17, 2021 |
| DIAPH3 | 4 | Aug 17, 2021 |
| DMXL2 | 1 | Aug 17, 2021 |
| EDNRB | 3 | Aug 17, 2021 |
| EDNRB-AS1 | 2 | Aug 17, 2021 |
| ESRRB | 1 | Aug 17, 2021 |
| EYA1 | 2 | Aug 17, 2021 |
| EYA4 | 3 | Aug 17, 2021 |
| FOXI1 | 2 | Aug 17, 2021 |
| GATA3 | 2 | Aug 17, 2021 |
| GIPC3 | 4 | Aug 17, 2021 |
| GJB2 | 11 | Aug 17, 2021 |
| GJB6 | 1 | Aug 17, 2021 |
| GPSM2 | 1 | Aug 17, 2021 |
| GRHL2 | 1 | Aug 17, 2021 |
| GRXCR1 | 1 | Aug 17, 2021 |
| GSDME | 1 | Aug 17, 2021 |
| HGF | 1 | Aug 17, 2021 |
| ILDR1 | 4 | Aug 17, 2021 |
| KARS1 | 3 | Aug 17, 2021 |
| KCNQ1 | 1 | Aug 17, 2021 |
| KCNQ4 | 2 | Aug 17, 2021 |
| LHFPL5 | 2 | Aug 17, 2021 |
| LOC100506071 | 5 | Aug 17, 2021 |
| LOC105371566 | 3 | Aug 17, 2021 |
| LOC107882129 | 1 | Aug 17, 2021 |
| LOC123956210 | 1 | Aug 17, 2021 |
| LOC126805814 | 1 | Aug 17, 2021 |
| LOC126806252 | 1 | Aug 17, 2021 |
| LOC126806529 | 2 | Aug 17, 2021 |
| LOC126860740 | 1 | Aug 17, 2021 |
| LOC126861365 | 1 | Aug 17, 2021 |
| LOC126862402 | 1 | Aug 17, 2021 |
| LOC126863084 | 1 | Aug 17, 2021 |
| LOC126863145 | 1 | Aug 17, 2021 |
| LOC127814297 | 4 | Aug 17, 2021 |
| LOXHD1 | 15 | Aug 17, 2021 |
| LRTOMT | 1 | Aug 17, 2021 |
| MANBA | 2 | Aug 17, 2021 |
| MARVELD2 | 2 | Aug 17, 2021 |
| MFF-DT | 6 | Aug 17, 2021 |
| MIR96 | 1 | Aug 17, 2021 |
| MITF | 1 | Aug 17, 2021 |
| MYH14 | 7 | Aug 17, 2021 |
| MYH9 | 3 | Aug 17, 2021 |
| MYO15A | 19 | Aug 17, 2021 |
| MYO3A | 3 | Aug 17, 2021 |
| MYO6 | 10 | Aug 17, 2021 |
| MYO7A | 19 | Aug 17, 2021 |
| NDP | 1 | Aug 17, 2021 |
| NDP-AS1 | 1 | Aug 17, 2021 |
| NLRP3 | 1 | Aug 17, 2021 |
| OTOA | 1 | Aug 17, 2021 |
| OTOF | 9 | Aug 17, 2021 |
| OTOG | 7 | Aug 17, 2021 |
| OTOGL | 5 | Aug 17, 2021 |
| PAX3 | 3 | Aug 17, 2021 |
| PCDH15 | 4 | Aug 17, 2021 |
| PDZD7 | 7 | Aug 17, 2021 |
| PJVK | 2 | Aug 17, 2021 |
| POLR1C | 2 | Aug 17, 2021 |
| POLR1D | 1 | Aug 17, 2021 |
| POLR2F | 2 | Aug 17, 2021 |
| POU4F3 | 4 | Aug 17, 2021 |
| PTPRQ | 5 | Aug 17, 2021 |
| RDX | 2 | Aug 17, 2021 |
| SEMA3F | 1 | Aug 17, 2021 |
| SERPINB6 | 2 | Aug 17, 2021 |
| SIX1 | 3 | Aug 17, 2021 |
| SLC26A4 | 15 | Aug 17, 2021 |
| SLC26A4-AS1 | 1 | Aug 17, 2021 |
| SLC26A5 | 1 | Aug 17, 2021 |
| SLITRK6 | 2 | Aug 17, 2021 |
| SMPX | 2 | Aug 17, 2021 |
| SOX10 | 2 | Aug 17, 2021 |
| SPNS2 | 1 | Aug 17, 2021 |
| STRC | 2 | Aug 17, 2021 |
| TARID | 2 | Aug 17, 2021 |
| TBCEL-TECTA | 13 | Aug 17, 2021 |
| TCOF1 | 2 | Aug 17, 2021 |
| TECTA | 13 | Aug 17, 2021 |
| TFAP2A | 1 | Aug 17, 2021 |
| TFAP2A-AS1 | 1 | Aug 17, 2021 |
| TJP2 | 4 | Aug 17, 2021 |
| TMC1 | 1 | Aug 17, 2021 |
| TMIE | 1 | Aug 17, 2021 |
| TMPRSS3 | 14 | Aug 17, 2021 |
| TNC | 6 | Aug 17, 2021 |
| TOMT | 1 | Aug 17, 2021 |
| TPRN | 1 | Aug 17, 2021 |
| TRIOBP | 9 | Aug 17, 2021 |
| TSPEAR | 1 | Aug 17, 2021 |
| TYR | 1 | Aug 17, 2021 |
| USH1C | 7 | Aug 17, 2021 |
| USH1G | 1 | Aug 17, 2021 |
| USH2A | 15 | Aug 17, 2021 |
| USH2A-AS2 | 3 | Aug 17, 2021 |
| WFS1 | 5 | Aug 17, 2021 |
| WHRN | 4 | Aug 17, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Abnormal activity of mitochondrial respiratory chain | 1 | Aug 17, 2021 |
| Alport syndrome | 3 | Aug 17, 2021 |
| Beta-D-mannosidosis | 4 | Aug 17, 2021 |
| Down syndrome | 2 | Aug 17, 2021 |
| Hearing impairment | 399 | Aug 17, 2021 |
| Melnick-Fraser syndrome | 3 | Aug 17, 2021 |
| Pendred syndrome | 9 | Aug 17, 2021 |
| Stickler syndrome | 6 | Aug 17, 2021 |
| Usher syndrome | 5 | Aug 17, 2021 |
| Waardenburg syndrome | 4 | Aug 17, 2021 |
| Waardenburg syndrome type 4C | 1 | Aug 17, 2021 |