An
Autosomal dominant, Autosomal recessive
mode(s) within the
Bone disorders
category
Conflicting classifications of pathogenicity
1
Pathogenic
1
Pathogenic/Likely pathogenic
2
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_001854.4(COL11A1):c.3762+2T>C | Single nucleotide variant | Chr1:102920309 | Pathogenic/Likely pathogenic | Splice donor variant | rs2524540006 |
.Department of Biochemistry, All India Institute of Medical Sciences, Kalyani .Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology |
| NM_001844.5(COL2A1):c.1513C>T (p.Pro505Ser) | Single nucleotide variant | Chr12:47986350 | Conflicting classifications of pathogenicity | Missense variant | rs865903887 |
.Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi .Neuberg Centre For Genomic Medicine, NCGM |
| NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser) | Single nucleotide variant | Chr12:47977644 | Pathogenic | Missense variant | rs2136522964 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) | Single nucleotide variant | Chr12:47978329 | Pathogenic/Likely pathogenic | Missense variant | rs121912874 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Suma Genomics |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution