Laboratory of Cyto-molecular Genetics, Department of Anatomy (All India Institute of Medical Sciences (AIIMS), New Delhi)
General information
Personnel
- Binata Marik, Coordinator
Phone: +919873172090
Email: [email protected] - Arundhati Sharma, Principal Investigator
Phone: +919868166088
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 67
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ATP6V0A4 | 1 | Mar 8, 2022 |
| ATP6V1B1 | 4 | Mar 8, 2022 |
| CLCN5 | 3 | Mar 8, 2022 |
| CTNS | 3 | Mar 8, 2022 |
| CTNS-AS1 | 1 | Mar 8, 2022 |
| CYP27B1 | 5 | Mar 8, 2022 |
| DMP1 | 1 | Feb 7, 2022 |
| EHHADH | 1 | Mar 8, 2022 |
| ENPP1 | 2 | Mar 8, 2022 |
| FGF23 | 1 | Mar 8, 2022 |
| FGFR1 | 1 | Mar 8, 2022 |
| GATM | 1 | Feb 7, 2022 |
| HRAS | 1 | Feb 7, 2022 |
| LOC126863258 | 1 | Mar 8, 2022 |
| LRRC56 | 1 | Feb 7, 2022 |
| PHEX | 24 | Mar 8, 2022 |
| PHEX-AS1 | 1 | Feb 7, 2022 |
| PTCHD1-AS | 10 | Mar 8, 2022 |
| SLC2A2 | 6 | Mar 8, 2022 |
| SLC34A1 | 1 | Mar 8, 2022 |
| SLC4A1 | 8 | Mar 16, 2022 |
| VDR | 4 | Mar 8, 2022 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal dominant distal renal tubular acidosis | 5 | Mar 8, 2022 |
| Autosomal recessive distal renal tubular acidosis | 1 | Mar 16, 2022 |
| Dent disease type 1 | 3 | Mar 8, 2022 |
| Distal Renal Tubular Acidosis, Recessive | 1 | Mar 8, 2022 |
| Fanconi renotubular syndrome 1 | 1 | Feb 7, 2022 |
| Fanconi renotubular syndrome 2 | 1 | Mar 8, 2022 |
| Fanconi renotubular syndrome 3 | 1 | Mar 8, 2022 |
| Fanconi-Bickel syndrome | 6 | Mar 8, 2022 |
| Hypophosphatemic rickets | 29 | Mar 8, 2022 |
| Infantile nephropathic cystinosis | 3 | Mar 8, 2022 |
| Osteoglophonic dysplasia | 1 | Mar 8, 2022 |
| Parathyroid gland adenoma | 1 | Feb 7, 2022 |
| Renal tubular acidosis with progressive nerve deafness | 4 | Mar 8, 2022 |
| Renal tubular acidosis, distal, 4, with hemolytic anemia | 2 | Mar 8, 2022 |
| Vitamin D-dependent rickets type II with alopecia | 4 | Mar 8, 2022 |
| Vitamin D-dependent rickets, type 1 | 3 | Feb 7, 2022 |
| Vitamin D-dependent rickets, type 1A | 2 | Mar 8, 2022 |