Multicentric osteolysis nodulosis arthropathy
An Autosomal recessive mode(s) within the Bone disorders category
Likely pathogenic
1
Pathogenic
2
Uncertain significance
1
| Variant name | Variant type | Phenotype | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_004530.6(MMP2):c.789C>A (p.Tyr263Ter) | Single nucleotide variant | Multicentric osteolysis nodulosis arthropathy spectrum | Pathogenic | nonsense | rs2142349089 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_004530.6(MMP2):c.306C>A (p.Cys102Ter) | Single nucleotide variant | Multicentric osteolysis nodulosis arthropathy spectrum | Likely pathogenic | nonsense | rs201679510 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_004530.6(MMP2):c.1229G>T (p.Gly410Val) | Single nucleotide variant | Multicentric osteolysis nodulosis arthropathy spectrum | Uncertain significance | missense variant | rs2142358782 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_004530.6(MMP2):c.1287del (p.Asn430fs) | Deletion |
Multicentric osteolysis, nodulosis, and arthropathy not provided Multicentric osteolysis nodulosis arthropathy spectrum |
Pathogenic | frameshift variant | rs794727916 |
.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