An
Autosomal recessive
mode(s) within the
Bone disorders
category
Graph displaying all Indian institutes, the rare genetic disorders they studied, and the variants submitted to ClinVar
Pathogenic
2
Pathogenic/Likely pathogenic
1
Uncertain significance
2
| Variant name | Variant type | Phenotype | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000860.6(HPGD):c.313C>T (p.Gln105Ter) | Single nucleotide variant | Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 | Pathogenic | nonsense|5 prime UTR variant|intron variant | rs751774080 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000860.6(HPGD):c.418G>C (p.Ala140Pro) | Single nucleotide variant |
not provided Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 |
Pathogenic | missense variant|intron variant | rs121434480 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_005630.3(SLCO2A1):c.1370C>T (p.Pro457Leu) | Single nucleotide variant | Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | Uncertain significance | missense variant | rs745763957 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_005630.3(SLCO2A1):c.289C>T (p.Arg97Cys) | Single nucleotide variant | Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | Uncertain significance | missense variant | rs761212094 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_005630.3(SLCO2A1):c.547G>A (p.Gly183Arg) | Single nucleotide variant |
not provided Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 |
Pathogenic/Likely pathogenic | missense variant | rs774038272 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
Graph displaying all Indian institutes, the rare genetic disorders they studied, and the variants submitted to ClinVar