An
Autosomal recessive
mode(s) within the
Bone disorders
category
Likely pathogenic
2
Pathogenic/Likely pathogenic
1
Uncertain significance
2
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_001159773.2(CANT1):c.836G>A (p.Gly279Asp) | Single nucleotide variant | Chr17:78993920 | Likely pathogenic | Missense variant | rs1233347902 |
.Lifecell International Pvt. Ltd |
| NM_001159773.2(CANT1):c.1186G>C (p.Glu396Gln) | Single nucleotide variant | Chr17:78993570 | Uncertain significance | Missense variant | rs1198106363 |
.Lifecell International Pvt. Ltd |
| NM_001159773.2(CANT1):c.631+11C>A | Single nucleotide variant | Chr17:78996981 | Uncertain significance | Intron variant | rs2145839791 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_001159773.2(CANT1):c.902_906dup (p.Ser303fs) | Microsatellite | Chr17:78993849 - 78993850 | Pathogenic/Likely pathogenic | Frameshift variant | rs587776895 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
| NM_001159773.2(CANT1):c.896C>T (p.Pro299Leu) | Single nucleotide variant | Chr17:78993860 | Likely pathogenic | Missense variant | rs267606700 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution