RD3 Chromosome 1
RD3 regulator of GUCY2D
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What This Gene Does
This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Associated Conditions (5)
Leber congenital amaurosis 12
Retinal dystrophy
RD3-related disorder
Leber congenital amaurosis
Abnormality of the eye
Key Variants
RS139419737
Conflicting classifications of pathogenicity
Leber congenital amaurosis 12, Retinal dystrophy, Leber congenital amaurosis 12
Health Risk
RS146420268
Conflicting classifications of pathogenicity
Leber congenital amaurosis 12, Leber congenital amaurosis 12
Health Risk
RS148189077
Conflicting classifications of pathogenicity
Leber congenital amaurosis 12, Leber congenital amaurosis 12
Health Risk
RS149051185
Conflicting classifications of pathogenicity
Leber congenital amaurosis 12, Leber congenital amaurosis 12
Health Risk
RS199511076
Conflicting classifications of pathogenicity
Leber congenital amaurosis 12, Leber congenital amaurosis 12
Health Risk
RS34049451
Conflicting classifications of pathogenicity
Leber congenital amaurosis 12, Leber congenital amaurosis 12
Health Risk
RS374821619
Conflicting classifications of pathogenicity
Leber congenital amaurosis 12, Leber congenital amaurosis 12
Health Risk
RS751609154
Conflicting classifications of pathogenicity
Leber congenital amaurosis 12, Leber congenital amaurosis 12
Health Risk
RS779584830
Conflicting classifications of pathogenicity
Leber congenital amaurosis 12, RD3-related disorder, Leber congenital amaurosis 12
Health Risk
RS1410405989
Pathogenic
Leber congenital amaurosis 12, Leber congenital amaurosis 12
Health Risk
RS2464555363
Pathogenic
Leber congenital amaurosis 12, Leber congenital amaurosis 12
Health Risk
RS386834260
Pathogenic
Leber congenital amaurosis 12, Leber congenital amaurosis 12, Leber congenital amaurosis 12
Health Risk
All Variants (17)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139419737 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 12, Retinal dystrophy, Leber congenital amaurosis 12 |
| RS146420268 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 12, Leber congenital amaurosis 12 |
| RS148189077 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 12, Leber congenital amaurosis 12 |
| RS149051185 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 12, Leber congenital amaurosis 12 |
| RS199511076 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 12, Leber congenital amaurosis 12 |
| RS34049451 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 12, Leber congenital amaurosis 12 |
| RS374821619 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 12, Leber congenital amaurosis 12 |
| RS751609154 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 12, Leber congenital amaurosis 12 |
| RS779584830 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 12, RD3-related disorder, Leber congenital amaurosis 12 |
| RS1410405989 | Health Risk | Pathogenic | Leber congenital amaurosis 12, Leber congenital amaurosis 12 |
| RS2464555363 | Health Risk | Pathogenic | Leber congenital amaurosis 12, Leber congenital amaurosis 12 |
| RS386834260 | Health Risk | Pathogenic | Leber congenital amaurosis 12, Leber congenital amaurosis 12, Leber congenital amaurosis 12 |
| RS762631020 | Health Risk | Pathogenic | Leber congenital amaurosis 12, Leber congenital amaurosis, Leber congenital amaurosis 12 |
| RS786205148 | Health Risk | Pathogenic | Leber congenital amaurosis 12, Abnormality of the eye, RD3-related disorder |
| RS786205149 | Health Risk | Pathogenic | Leber congenital amaurosis 12, Leber congenital amaurosis 12 |
| RS786205150 | Health Risk | Pathogenic | Leber congenital amaurosis 12, Leber congenital amaurosis 12 |
| RS761112550 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 12, Leber congenital amaurosis 12 |