Laboratory of Prof. Karen Avraham (Tel Aviv University)
General information
Personnel
- Zippi Brownstein, Contact
Phone: 972-3-6406417
Email: brownste@tauex.tau.ac.il
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 217
Gene
Gene | Submissions | Last Updated |
---|---|---|
ADGRV1 | 1 | Jun 24, 2024 |
AIFM1 | 1 | Jun 24, 2024 |
ALMS1 | 1 | Jun 24, 2024 |
ANKRD36 | 2 | Mar 8, 2020 |
ATOH1 | 1 | Nov 24, 2019 |
ATP11A | 1 | Dec 9, 2021 |
ATP2B2 | 2 | Jun 24, 2024 |
ATP6V1B1 | 1 | Jun 24, 2024 |
B3GNT4 | 1 | Jun 24, 2024 |
BDP1 | 1 | Jun 24, 2024 |
CABP2 | 2 | Mar 8, 2020 |
CDH23 | 1 | May 3, 2016 |
CEACAM16 | 2 | Jun 24, 2024 |
CEACAM16-AS1 | 2 | Jun 24, 2024 |
CHD7 | 2 | Jun 24, 2024 |
CIB2 | 1 | Feb 4, 2021 |
CLDN9 | 1 | Jun 24, 2024 |
CLPP | 2 | Nov 24, 2019 |
COCH | 2 | Nov 24, 2019 |
COL11A1 | 2 | Aug 6, 2024 |
COL11A2 | 2 | Nov 24, 2019 |
COL4A3 | 4 | Jun 24, 2024 |
COL4A5 | 1 | Jun 24, 2024 |
COL4A6 | 2 | Aug 7, 2024 |
DIABLO | 2 | Jun 24, 2024 |
DIAPH1 | 1 | Jun 24, 2024 |
DM1-AS | 1 | Jun 24, 2024 |
DMXL2 | 2 | Jun 24, 2024 |
EYA4 | 4 | Jun 24, 2024 |
FGFR1 | 2 | Jun 24, 2024 |
GATA3 | 2 | Nov 24, 2019 |
GJB2 | 4 | Jun 24, 2024 |
GJB3 | 3 | Jun 24, 2024 |
GRIN2D | 1 | Jan 12, 2021 |
KMT2D | 2 | Jun 24, 2024 |
LOC100506071 | 2 | Nov 24, 2019 |
LOC105371566 | 4 | Oct 27, 2020 |
LOC105378311 | 1 | Nov 24, 2019 |
LOC107075317 | 1 | Jun 24, 2024 |
LOC111982869 | 1 | May 3, 2016 |
LOC126861365 | 2 | Jun 24, 2024 |
LOC130063288 | 1 | Nov 24, 2019 |
LOC130064857 | 1 | Jan 12, 2021 |
LOXHD1 | 5 | Jun 24, 2024 |
LRP2 | 1 | Jun 24, 2024 |
MAN2B1 | 1 | Jun 24, 2024 |
MFF-DT | 4 | Jun 24, 2024 |
MITF | 3 | Nov 24, 2019 |
MT-ND1 | 1 | Jun 24, 2024 |
MT-TL1 | 1 | Jun 24, 2024 |
MYH14 | 6 | Jun 24, 2024 |
MYH9 | 3 | Jun 24, 2024 |
MYO15A | 18 | Jun 24, 2024 |
MYO3A | 1 | Jun 24, 2024 |
MYO6 | 4 | Mar 8, 2020 |
MYO7A | 7 | Jun 24, 2024 |
NOG | 1 | Jun 24, 2024 |
OPA1 | 3 | Jun 24, 2024 |
OTOF | 1 | May 3, 2016 |
PCDH15 | 6 | Aug 6, 2024 |
PDE1C | 2 | Jun 24, 2024 |
PKD1L2 | 1 | Jun 24, 2024 |
POLR1B | 1 | Jun 24, 2024 |
POLR2F | 1 | Nov 24, 2019 |
POU3F4 | 3 | Jun 24, 2024 |
RAB33A | 1 | Jun 24, 2024 |
RAI1 | 2 | Jun 24, 2024 |
SEMA3E | 2 | Jun 24, 2024 |
SIX1 | 3 | Jun 24, 2024 |
SIX5 | 1 | Jun 24, 2024 |
SLC17A8 | 1 | Jun 24, 2024 |
SLC26A4 | 8 | Jun 24, 2024 |
SLC26A5 | 1 | Jun 24, 2024 |
SOX10 | 1 | Nov 24, 2019 |
STRC | 5 | Jun 24, 2024 |
SYNE4 | 1 | May 3, 2016 |
TARID | 2 | Jun 24, 2024 |
TBC1D24 | 1 | May 3, 2016 |
TBCEL-TECTA | 8 | Jun 24, 2024 |
TCOF1 | 1 | Jun 24, 2024 |
TECTA | 8 | Jun 24, 2024 |
TJP2 | 6 | Jun 24, 2024 |
TMC1 | 7 | May 3, 2016 |
TMPRSS3 | 2 | Jun 24, 2024 |
TNC | 3 | Jun 24, 2024 |
USH1C | 2 | Jun 24, 2024 |
USH1G | 1 | Jun 24, 2024 |
USH2A | 4 | Jun 24, 2024 |
USH2A-AS1 | 1 | May 3, 2016 |
WFS1 | 11 | Jun 24, 2024 |