Renal tubular acidosis with progressive nerve deafness
An Autosomal recessive mode(s) within the Multisystemic disorders category
Conflicting classifications of pathogenicity
1
Likely pathogenic
2
Pathogenic
1
Pathogenic/Likely pathogenic
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_001692.4(ATP6V1B1):c.1060G>A (p.Asp354Asn) | Single nucleotide variant | Chr2:70963312 | Likely pathogenic | Missense variant | rs782484337 |
.Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi |
| NM_001692.4(ATP6V1B1):c.1449G>T (p.Lys483Asn) | Single nucleotide variant | Chr2:70965028 | Likely pathogenic | Missense variant | rs2104834809 |
.Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi |
| NM_001692.4(ATP6V1B1):c.925G>T (p.Glu309Ter) | Single nucleotide variant | Chr2:70963177 | Pathogenic | Nonsense | rs2104831698 |
.Kamineni Academy of Medical Sciences & Research Centre, Kamineni Hospitals |
| NM_001692.4(ATP6V1B1):c.67C>T (p.Arg23Ter) | Single nucleotide variant | Chr2:70936021 | Pathogenic/Likely pathogenic | Nonsense | rs1553415274 |
.Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi |
| NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) | Single nucleotide variant | Chr2:70959974 | Conflicting classifications of pathogenicity | Missense variant | rs114234874 |
.Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi |
Graph displaying all Indian institutes, the rare genetic disorders they studied, and the variants submitted to ClinVar