Severe early-childhood-onset retinal dystrophy
An Autosomal recessive mode(s) within the Eye disorders category
Pathogenic
1
Pathogenic/Likely pathogenic
1
Uncertain significance
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000350.3(ABCA4):c.1645G>A (p.Ala549Thr) | Single nucleotide variant | Chr1:94063227 | Uncertain significance | Missense variant | rs61748557 |
.Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd |
| NM_000350.3(ABCA4):c.4838del (p.Asp1613fs) | Deletion | Chr1:94021650 | Pathogenic/Likely pathogenic | Frameshift variant | rs61752438 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_019098.5(CNGB3):c.1781+1G>T | Single nucleotide variant | Chr8:86604092 | Pathogenic | Splice donor variant | rs1375507464 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
Graph displaying all Indian institutes, the rare genetic disorders they studied, and the variants submitted to ClinVar