Congenital stationary night blindness
An Autosomal dominant, Autosomal recessive, X-linked recessive mode(s) within the Eye disorders category
Likely pathogenic
1
Uncertain significance
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000843.4(GRM6):c.2497G>C (p.Gly833Arg) | Single nucleotide variant | Chr5:178981794 | Likely pathogenic | Missense variant |
.SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation |
|
| NM_176820.4(NLRP9):c.796C>T (p.Leu266Phe) | Single nucleotide variant | Chr19:55733035 | Uncertain significance | Missense variant | rs775007010 |
.Prabudh Goel Research Team, All India Institute Medical Sciences, New Delhi |
Graph displaying all Indian institutes, the rare genetic disorders they studied, and the variants submitted to ClinVar