Division of Genetics, Dept of Pediatrics (All India Institute of Medical Sciences (AIIMS))
General information
Division of Genetics, Dept of Pediatrics
All India Institute of Medical Sciences (AIIMS)
Ansari Nagar
New Delhi
Delhi
India - 110029
https://www.aiims.edu/en.html
Organization ID: 507528
All India Institute of Medical Sciences (AIIMS)
Ansari Nagar
New Delhi
Delhi
India - 110029
https://www.aiims.edu/en.html
Organization ID: 507528
Personnel
- Neerja Gupta, Principal Investigator
Phone: 00911126594585
Email: neerja17@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 85
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCD1 | 1 | Jun 17, 2023 |
| ACE | 1 | Jun 17, 2023 |
| ANK1 | 1 | Jun 17, 2023 |
| ARCN1 | 1 | Jun 17, 2023 |
| ASCC1 | 1 | Jun 17, 2023 |
| ATAD3A | 1 | Jun 17, 2023 |
| CASK | 1 | Jun 17, 2023 |
| CCDC8 | 1 | Apr 7, 2023 |
| CEP57 | 1 | Sep 4, 2020 |
| CFAP53 | 1 | Jun 17, 2023 |
| CHD3 | 1 | Jun 30, 2023 |
| CHD7 | 2 | Jun 17, 2023 |
| CHRNG | 3 | Jun 17, 2023 |
| CHST14 | 1 | Jun 17, 2023 |
| CLPB | 1 | Jun 30, 2023 |
| COL12A1 | 2 | Jun 17, 2023 |
| COL1A1 | 1 | Jun 17, 2023 |
| COL2A1 | 8 | Nov 27, 2023 |
| DLX5 | 1 | Apr 7, 2023 |
| DNM2 | 1 | Jun 17, 2023 |
| DYNC1H1 | 1 | Jun 17, 2023 |
| ECEL1 | 4 | Jun 17, 2023 |
| ESCO2 | 1 | Apr 7, 2023 |
| EVC2 | 1 | Jun 17, 2023 |
| FBN2 | 1 | Jun 17, 2023 |
| HSD3B2 | 1 | Jun 30, 2023 |
| HSPG2 | 2 | Jun 17, 2023 |
| KAT6B | 1 | Jun 17, 2023 |
| LAMA2 | 1 | Jun 17, 2023 |
| LDLRAD2 | 1 | Jun 17, 2023 |
| LIFR | 1 | Jun 17, 2023 |
| LOC102724058 | 1 | Jun 17, 2023 |
| LPAR6 | 1 | Jun 30, 2023 |
| MAFB | 1 | May 12, 2023 |
| MFN2 | 1 | Jun 30, 2023 |
| MTHFR | 2 | May 15, 2020 |
| MYO18B | 3 | Jun 17, 2023 |
| MYO9A | 1 | Jun 26, 2023 |
| NEB | 3 | Jun 25, 2023 |
| NIPBL | 1 | Apr 7, 2023 |
| NR5A1 | 1 | Jul 4, 2023 |
| NUP188 | 1 | Jun 17, 2023 |
| PIEZO1 | 2 | Jun 17, 2023 |
| PKD1L1 | 1 | May 19, 2020 |
| PLOD3 | 1 | Jun 17, 2023 |
| POLA1 | 1 | Jun 16, 2021 |
| PORCN | 2 | Apr 7, 2023 |
| RAPSN | 2 | Jun 17, 2023 |
| RB1 | 1 | Jun 30, 2023 |
| RBM8A | 1 | Apr 7, 2023 |
| RIF1 | 1 | Jun 25, 2023 |
| RIPK4 | 1 | Jun 17, 2023 |
| ROR2 | 1 | Apr 7, 2023 |
| SALL4 | 1 | Apr 7, 2023 |
| SCN1A | 1 | Jun 17, 2023 |
| SETD1A | 1 | Jun 30, 2023 |
| STIM1 | 1 | Jun 17, 2023 |
| SUZ12 | 1 | Jun 17, 2023 |
| TBX3 | 1 | Apr 7, 2023 |
| TBX5 | 1 | Apr 7, 2023 |
| TNNI2 | 1 | Jun 17, 2023 |
| TOR1A | 1 | Jun 17, 2023 |
| TP63 | 2 | Apr 7, 2023 |
| WNT10B | 2 | Apr 7, 2023 |