An
Autosomal dominant, Autosomal recessive
mode(s) within the
Blood disorders
category
Graph displaying all Indian institutes, the rare genetic disorders they studied, and the variants submitted to ClinVar
Likely pathogenic
1
Pathogenic/Likely pathogenic
1
Uncertain significance
1
| Variant name | Variant type | Phenotype | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000552.5(VWF):c.3944G>A (p.Arg1315His) | Single nucleotide variant | von Willebrand disease type 2M | Likely pathogenic | missense variant | rs61749396 | |
| NM_000552.5(VWF):c.3943C>T (p.Arg1315Cys) | Single nucleotide variant |
not provided von Willebrand disorder Hereditary von Willebrand disease von Willebrand disease type 1 VWF-related disorder |
Pathogenic/Likely pathogenic | missense variant | rs61749395 | |
| NM_000552.5(VWF):c.3835G>A (p.Val1279Ile) | Single nucleotide variant |
von Willebrand disease type 1 not specified not provided Hereditary von Willebrand disease von Willebrand disease type 2 Thrombocytopenia |
Uncertain significance | missense variant | rs61749376 |
Graph displaying all Indian institutes, the rare genetic disorders they studied, and the variants submitted to ClinVar