Autosomal recessive Robinow syndrome
An Autosomal recessive mode(s) within the Bone disorders category
Likely pathogenic
3
Pathogenic
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_004560.4(ROR2):c.854A>G (p.Lys285Arg) | Single nucleotide variant | Chr9:91733205 | Likely pathogenic | Missense variant | rs768848657 |
.Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi |
| NM_004560.4(ROR2):c.1353_1360del (p.Met452fs) | Deletion | Chr9:91726567 - 91726574 | Pathogenic | 3 prime UTR variant|frameshift variant | rs1365019676 |
.Indian Institute of Integrative Medicine, Council of Scientific and Industrial Research |
| NM_004560.4(ROR2):c.323G>A (p.Arg108Gln) | Single nucleotide variant | Chr9:91757412 | Likely pathogenic | Missense variant | rs1587690611 |
.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences |
| NM_004560.4(ROR2):c.1565_1569delinsTGTA (p.Arg522fs) | Indel | Chr9:91724925 - 91724929 | Likely pathogenic | Frameshift variant | rs1587655016 |
.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution