Autosomal recessive osteopetrosis 4
An Autosomal recessive mode(s) within the Bone disorders category
Likely pathogenic
4
Pathogenic/Likely pathogenic
1
Uncertain significance
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_001287.6(CLCN7):c.1304C>T (p.Ser435Leu) | Single nucleotide variant | Chr16:1452804 | Likely pathogenic | Missense variant | rs1382966039 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_001287.6(CLCN7):c.1714del (p.Glu572fs) | Deletion | Chr16:1449049 | Likely pathogenic | Frameshift variant | rs2505815947 |
.Lifecell International Pvt. Ltd |
| NM_001287.6(CLCN7):c.1681C>T (p.Arg561Trp) | Single nucleotide variant | Chr16:1449082 | Likely pathogenic | Missense variant | rs2038701489 |
.Molecular Lab, Department of Haematology, Christian Medical College |
| NM_001287.6(CLCN7):c.1125C>G (p.Ile375Met) | Single nucleotide variant | Chr16:1454439 | Likely pathogenic | Missense variant | rs1410701535 |
.Molecular Lab, Department of Haematology, Christian Medical College |
| NM_001287.6(CLCN7):c.1165G>A (p.Gly389Arg) | Single nucleotide variant | Chr16:1453883 | Uncertain significance | Missense variant | rs1555465003 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_001287.6(CLCN7):c.641A>G (p.Asn214Ser) | Single nucleotide variant | Chr16:1459141 | Pathogenic/Likely pathogenic | Missense variant | rs367567630 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution