Kasturba Medical College, Manipal (Manipal Academy of Higher Education), KMC-MU
General information
Kasturba Medical College, Manipal, KMC-MU
Manipal Academy of Higher Education
Madhav Nagar
Manipal
Karnataka
India - 576104
http://www.manipal.edu
Organization ID: 505991
Manipal Academy of Higher Education
Madhav Nagar
Manipal
Karnataka
India - 576104
http://www.manipal.edu
Organization ID: 505991
Personnel
- Bhagesh Hunakunti, Informatics staff
Phone: 7028684428
Email: hunakuntibhagesh@gmail.com - Girisha Katta, Principal Investigator
Phone: 9743489467
Email: girishkatta@gmail.com - Anju Shukla, Principal Investigator
Phone: 8202922361
Email: anju.shukla@manipal.edu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 151
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCC8 | 2 | May 6, 2021 |
| ADCY5 | 1 | Aug 17, 2021 |
| ADGRG1 | 1 | Oct 20, 2021 |
| ADGRV1 | 1 | Jun 4, 2018 |
| AIMP2 | 1 | Jun 20, 2017 |
| AP3B2 | 1 | May 6, 2021 |
| AP4S1 | 1 | Jan 31, 2021 |
| ARID1B | 1 | Jan 31, 2021 |
| ARSA | 5 | Oct 28, 2021 |
| B9D2 | 1 | Aug 7, 2019 |
| BNIP1 | 1 | Mar 12, 2021 |
| BTD | 1 | Aug 12, 2021 |
| CAPN3 | 2 | Aug 9, 2021 |
| CARMIL2 | 1 | Jul 12, 2021 |
| CC2D2A | 2 | Aug 29, 2019 |
| CD79A | 1 | Mar 27, 2021 |
| CEP290 | 3 | Aug 28, 2019 |
| CLN6 | 2 | Aug 16, 2021 |
| COL27A1 | 2 | Oct 20, 2019 |
| COMP | 5 | Mar 10, 2020 |
| CPEB1-AS1 | 1 | May 6, 2021 |
| CREBBP | 1 | Oct 20, 2021 |
| CYFIP2 | 1 | May 6, 2021 |
| DARS2 | 2 | Oct 18, 2021 |
| DMD | 1 | Aug 9, 2021 |
| DYNC1H1 | 1 | May 6, 2021 |
| DYRK1A | 1 | May 6, 2021 |
| ECEL1 | 1 | Mar 27, 2021 |
| EDN3 | 1 | Jun 1, 2018 |
| EDNRB | 4 | Apr 7, 2021 |
| EDNRB-AS1 | 2 | Apr 7, 2021 |
| EIF2B4 | 1 | Feb 11, 2021 |
| EVC2 | 1 | Jan 31, 2021 |
| FGF12 | 1 | May 6, 2021 |
| FGF13 | 1 | Jul 24, 2021 |
| FOXG1 | 1 | Aug 17, 2021 |
| FUCA1 | 1 | May 6, 2021 |
| GALC | 1 | Feb 11, 2021 |
| GALNT2 | 1 | May 6, 2021 |
| GCDH | 2 | Jan 31, 2021 |
| GFAP | 1 | Oct 4, 2021 |
| GJB2 | 1 | Jun 4, 2018 |
| HEXB | 1 | Jan 31, 2021 |
| HHAT | 1 | Mar 27, 2021 |
| HIVEP2 | 1 | Oct 1, 2021 |
| IL12RB1 | 1 | Nov 13, 2021 |
| ISCA1 | 2 | Oct 4, 2021 |
| KCNJ10 | 1 | May 6, 2021 |
| KCNT1 | 1 | Aug 16, 2021 |
| KCTD7 | 1 | May 6, 2021 |
| KIF26A | 1 | Jun 23, 2017 |
| KLHL7 | 1 | Jul 6, 2017 |
| KMT2D | 1 | Aug 10, 2021 |
| L1CAM | 1 | Feb 11, 2021 |
| L2HGDH | 1 | Oct 7, 2021 |
| LAMA2 | 4 | Oct 4, 2021 |
| LOC102724058 | 1 | May 6, 2021 |
| MGME1 | 1 | Jun 20, 2017 |
| MITF | 4 | May 23, 2018 |
| MLC1 | 1 | May 5, 2021 |
| MPDU1 | 1 | Jan 31, 2021 |
| MT-ND4 | 1 | Jul 8, 2021 |
| MTHFR | 2 | May 5, 2021 |
| MYOD1 | 1 | May 20, 2019 |
| NDUFV1 | 2 | Oct 7, 2021 |
| OBSL1 | 1 | Jun 1, 2020 |
| OCLN | 1 | May 6, 2021 |
| OPA3 | 1 | Mar 27, 2021 |
| PAX3 | 5 | Apr 7, 2021 |
| PAX6 | 1 | Mar 27, 2021 |
| PCDH12 | 1 | May 5, 2021 |
| PDHA1 | 1 | Oct 20, 2021 |
| PEX3 | 1 | May 6, 2021 |
| PIBF1 | 1 | Jul 6, 2017 |
| PNPT1 | 1 | Jan 31, 2021 |
| POLR2F | 3 | May 5, 2021 |
| POLR3A | 2 | Jan 31, 2021 |
| PTH1R | 2 | May 17, 2019 |
| PTH2R | 1 | Mar 27, 2017 |
| PURA | 1 | Aug 6, 2020 |
| QRICH1 | 1 | Aug 10, 2021 |
| RARS2 | 1 | Oct 20, 2021 |
| RNASEH2C | 1 | Jan 31, 2021 |
| RTTN | 1 | Jul 9, 2021 |
| SACS | 1 | Aug 2, 2021 |
| SCN1A | 1 | May 6, 2021 |
| SERPINF1 | 1 | Apr 15, 2021 |
| SETBP1 | 1 | May 5, 2021 |
| SHMT2 | 1 | May 6, 2021 |
| SMARCA2 | 1 | Jun 30, 2021 |
| SMARCD1 | 1 | Sep 11, 2021 |
| SNX14 | 1 | Nov 14, 2016 |
| SOX10 | 3 | May 5, 2021 |
| STRA6 | 1 | Apr 15, 2021 |
| STXBP1 | 2 | Jul 9, 2021 |
| TBCK | 2 | Jul 31, 2021 |
| TCF12 | 1 | Aug 10, 2021 |
| TF | 1 | Jun 23, 2021 |
| TJP2 | 1 | Aug 17, 2021 |
| TMEM67 | 1 | Aug 29, 2019 |
| TPK1 | 1 | May 5, 2021 |
| TPP1 | 2 | Jan 31, 2021 |
| TRAPPC12 | 1 | May 7, 2021 |
| TRAPPC4 | 2 | Jun 16, 2021 |
| TRIP11 | 1 | May 16, 2021 |
| TUBB4A | 1 | Aug 10, 2021 |
| TXNDC15 | 1 | Aug 7, 2019 |
| TYR | 1 | Jun 4, 2018 |
| UGDH | 1 | Jan 31, 2021 |
| VARS1 | 2 | Feb 11, 2021 |
| WAS | 1 | Nov 15, 2021 |