An
Autosomal dominant, Autosomal recessive
mode(s) within the
Bone disorders
category
Conflicting classifications of pathogenicity
1
Likely pathogenic
6
Pathogenic
6
Pathogenic/Likely pathogenic
2
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_001844.5(COL2A1):c.2744G>A (p.Gly915Glu) | Single nucleotide variant | Chr12:47978748 | Likely pathogenic | Missense variant |
.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences |
|
| NM_001844.5(COL2A1):c.1952G>T (p.Gly651Val) | Single nucleotide variant | Chr12:47983726 | Likely pathogenic | Missense variant | rs1447463543 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
| NM_001844.5(COL2A1):c.2995G>T (p.Gly999Cys) | Single nucleotide variant | Chr12:47978299 | Likely pathogenic | Missense variant | rs2136526244 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_001844.5(COL2A1):c.2114G>A (p.Gly705Asp) | Single nucleotide variant | Chr12:47982927 | Likely pathogenic | Missense variant | rs2136551606 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
| NM_001844.5(COL2A1):c.1232G>A (p.Gly411Glu) | Single nucleotide variant | Chr12:47987303 | Likely pathogenic | Missense variant | rs2136577158 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
| 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.4135C>T (p.Arg1379Cys) | Single nucleotide variant | Chr12:47974271 | Conflicting classifications of pathogenicity | Missense variant | rs141951587 |
.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 |
| NM_000112.4(SLC26A2):c.796dup (p.Thr266fs) | Duplication | Chr5:149980388 - 149980389 | Pathogenic | Frameshift variant | rs767996373 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
| NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter) | Single nucleotide variant | Chr5:149978184 | Pathogenic | Nonsense | rs104893919 |
.Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS .Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
| NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) | Single nucleotide variant | Chr5:149980428 | Pathogenic/Likely pathogenic | Missense variant | rs104893915 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000112.4(SLC26A2):c.1724del (p.Lys575fs) | Deletion | Chr5:149981316 | Pathogenic | Frameshift variant | rs386833498 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
| NM_004239.4(TRIP11):c.1107_1108dup (p.Thr370fs) | Duplication | Chr14:92014292 - 92014293 | Likely pathogenic | Frameshift variant | rs2140129581 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
| NM_004239.4(TRIP11):c.526C>T (p.Arg176Ter) | Single nucleotide variant | Chr14:92021618 | Pathogenic | Nonsense | rs758589172 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
| NM_004239.4(TRIP11):c.5457+81T>A | Single nucleotide variant | Chr14:91975091 | Pathogenic | Intron variant | rs2056447170 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution