Institute of Human Genetics (Polish Academy of Sciences)
General information
Institute of Human Genetics
Polish Academy of Sciences
Strzeszynska 32
Poznan
Poland - 60-479
http://igcz.poznan.pl/en/
Organization ID: 506535
Polish Academy of Sciences
Strzeszynska 32
Poznan
Poland - 60-479
http://igcz.poznan.pl/en/
Organization ID: 506535
Personnel
- Marzena Gajecka, Principal Investigator
Phone: 0048618233011
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 102
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA1 | 1 | Dec 17, 2018 |
| ABLIM2 | 1 | Dec 17, 2018 |
| AEBP1 | 1 | Dec 17, 2018 |
| ALDH1L1 | 1 | Dec 17, 2018 |
| ANAPC1 | 1 | Dec 17, 2018 |
| ANKMY2 | 1 | Dec 17, 2018 |
| AP5Z1 | 1 | Dec 17, 2018 |
| ATAT1 | 1 | Dec 17, 2018 |
| BCAN | 1 | Dec 17, 2018 |
| BCAN-AS1 | 1 | Dec 17, 2018 |
| BCAN-AS2 | 1 | Dec 17, 2018 |
| BUB1B-PAK6 | 1 | Mar 7, 2018 |
| CD109 | 1 | Dec 17, 2018 |
| CFHR2 | 1 | Dec 17, 2018 |
| CHKB-CPT1B | 1 | Dec 17, 2018 |
| CIAO3 | 1 | Dec 17, 2018 |
| COL17A1 | 1 | Dec 17, 2018 |
| COL5A3 | 1 | Mar 7, 2018 |
| CPT1B | 1 | Dec 17, 2018 |
| CRYGD | 1 | Dec 17, 2018 |
| DAB2IP | 1 | Mar 7, 2018 |
| DUT | 1 | Dec 17, 2018 |
| EGFLAM | 1 | Dec 17, 2018 |
| ELAVL4 | 1 | Dec 17, 2018 |
| EPHA8 | 1 | Dec 17, 2018 |
| FBN2 | 1 | Dec 17, 2018 |
| FHIP1A | 1 | Dec 17, 2018 |
| FLII | 1 | Dec 17, 2018 |
| FLRT3 | 1 | Dec 17, 2018 |
| FUCA2 | 1 | Dec 17, 2018 |
| FZD2 | 1 | Mar 7, 2018 |
| GNA14 | 1 | Dec 17, 2018 |
| GRB7 | 1 | Dec 17, 2018 |
| HMX2 | 1 | Dec 17, 2018 |
| HSD17B14 | 1 | Dec 17, 2018 |
| IFIT1B | 1 | Dec 17, 2018 |
| IL1RAP | 1 | Dec 17, 2018 |
| IL36B | 1 | Dec 17, 2018 |
| INA | 1 | Dec 17, 2018 |
| KDR | 1 | Dec 17, 2018 |
| KIR2DL1 | 1 | Apr 12, 2023 |
| KIR3DL1 | 2 | Apr 12, 2023 |
| KRTAP9-2 | 1 | Dec 17, 2018 |
| LAMA5 | 1 | Dec 17, 2018 |
| LGMN | 1 | Dec 17, 2018 |
| LIMK1 | 1 | Dec 17, 2018 |
| LOC100507443 | 1 | Dec 17, 2018 |
| LOC129994346 | 1 | Dec 17, 2018 |
| LRP1B | 1 | Dec 17, 2018 |
| LRP6 | 1 | Mar 7, 2018 |
| MACROD2 | 1 | Dec 17, 2018 |
| MCL1 | 1 | Dec 17, 2018 |
| MUC5AC | 3 | Apr 12, 2023 |
| NANOGP8 | 1 | Apr 12, 2023 |
| NBPF19 | 1 | Apr 12, 2023 |
| NEIL2 | 1 | Dec 17, 2018 |
| NF1 | 1 | Mar 7, 2018 |
| NFATC3 | 1 | Mar 7, 2018 |
| NFE2L3 | 1 | Apr 12, 2023 |
| NFKB1 | 1 | Dec 17, 2018 |
| NRCAM | 1 | Dec 17, 2018 |
| PAK6 | 1 | Mar 7, 2018 |
| PAXBP1 | 1 | Dec 17, 2018 |
| PCSK9 | 2 | Dec 17, 2018 |
| PDE6B | 1 | Dec 17, 2018 |
| PGAP1 | 1 | Dec 17, 2018 |
| PGS1 | 1 | Dec 17, 2018 |
| PIGT | 1 | Dec 17, 2018 |
| PIK3CG | 1 | Mar 7, 2018 |
| PPP3CC | 1 | Mar 7, 2018 |
| PRKAA2 | 1 | Dec 17, 2018 |
| PRPF38B | 1 | Dec 17, 2018 |
| PSAT1 | 1 | Dec 17, 2018 |
| PTK6 | 1 | Mar 7, 2018 |
| PTPRZ1 | 1 | Dec 17, 2018 |
| PYGM | 1 | Dec 17, 2018 |
| RABEPK | 1 | Dec 17, 2018 |
| RALGAPB | 1 | Dec 17, 2018 |
| RPL4 | 1 | Dec 17, 2018 |
| SEMA3C | 1 | Dec 17, 2018 |
| SIPA1L2 | 1 | Dec 17, 2018 |
| SLC22A5 | 1 | Dec 17, 2018 |
| SLC25A25 | 1 | Dec 17, 2018 |
| SLC28A1 | 1 | Dec 17, 2018 |
| SLC35E2B | 1 | Dec 17, 2018 |
| SLC6A19 | 1 | Dec 17, 2018 |
| SNTG2 | 1 | Dec 17, 2018 |
| ST14 | 1 | Dec 17, 2018 |
| STAC2 | 1 | Dec 17, 2018 |
| TRA | 2 | Apr 12, 2023 |
| TRAV19 | 2 | Apr 12, 2023 |
| TRB | 1 | Apr 12, 2023 |
| TRBV12-5 | 1 | Apr 12, 2023 |
| TSC22D2 | 1 | Apr 12, 2023 |
| UCMA | 1 | Apr 12, 2023 |
| VANGL1 | 1 | Mar 7, 2018 |
| WDR36 | 1 | Dec 17, 2018 |
| WNT1 | 1 | Mar 7, 2018 |
| ZC3H13 | 1 | Dec 17, 2018 |
| ZNF107 | 1 | Dec 17, 2018 |
| ZNF446 | 1 | Dec 17, 2018 |
| ZNF536 | 1 | Dec 17, 2018 |
| ZNF692 | 1 | Dec 17, 2018 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| High myopia | 73 | Dec 17, 2018 |
| Keratoconus | 29 | Apr 12, 2023 |