NYX Chromosome X
Nyctalopin
Upload your DNA to see your personal genotypes for variants in NYX.
What This Gene Does
The product of this gene belongs to the small leucine-rich proteoglycan (SLRP) family of proteins. Defects in this gene are the cause of congenital stationary night blindness type 1 (CSNB1), also called X-linked congenital stationary night blindness (XLCSNB). CSNB1 is a rare inherited retinal disorder characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity. The role of other SLRP proteins suggests that mutations in this gene disrupt developing retinal interconnections involving the ON-bipolar cells, leading to the visual losses seen in patients with complete CSNB. [provided by RefSeq, Oct 2008]
Associated Conditions (6)
NYX-related disorder
Inborn genetic diseases
Congenital stationary night blindness 1A
Abnormality of the eye
Congenital stationary night blindness
Retinal dystrophy
Key Variants
RS139558261
Conflicting classifications of pathogenicity
NYX-related disorder, NYX-related disorder
Health Risk
RS188293278
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2064376509
Conflicting classifications of pathogenicity
Congenital stationary night blindness 1A, Congenital stationary night blindness 1A
Health Risk
RS2519607721
Conflicting classifications of pathogenicity
Health Risk
RS374968384
Conflicting classifications of pathogenicity
Congenital stationary night blindness 1A, Inborn genetic diseases, Congenital stationary night blindness 1A
Health Risk
RS62637035
Conflicting classifications of pathogenicity
NYX-related disorder, NYX-related disorder
Health Risk
RS62637037
Conflicting classifications of pathogenicity
Congenital stationary night blindness 1A, Congenital stationary night blindness 1A
Health Risk
RS746383908
Conflicting classifications of pathogenicity
Congenital stationary night blindness 1A, Congenital stationary night blindness 1A
Health Risk
RS764736358
Conflicting classifications of pathogenicity
Health Risk
RS775575693
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS924692905
Conflicting classifications of pathogenicity
Congenital stationary night blindness 1A, Congenital stationary night blindness 1A
Health Risk
RS1555967263
Likely pathogenic
Abnormality of the eye, Abnormality of the eye
Health Risk
All Variants (48)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139558261 | Health Risk | Conflicting classifications of pathogenicity | NYX-related disorder, NYX-related disorder |
| RS188293278 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2064376509 | Health Risk | Conflicting classifications of pathogenicity | Congenital stationary night blindness 1A, Congenital stationary night blindness 1A |
| RS2519607721 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374968384 | Health Risk | Conflicting classifications of pathogenicity | Congenital stationary night blindness 1A, Inborn genetic diseases, Congenital stationary night blindness 1A |
| RS62637035 | Health Risk | Conflicting classifications of pathogenicity | NYX-related disorder, NYX-related disorder |
| RS62637037 | Health Risk | Conflicting classifications of pathogenicity | Congenital stationary night blindness 1A, Congenital stationary night blindness 1A |
| RS746383908 | Health Risk | Conflicting classifications of pathogenicity | Congenital stationary night blindness 1A, Congenital stationary night blindness 1A |
| RS764736358 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS775575693 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS924692905 | Health Risk | Conflicting classifications of pathogenicity | Congenital stationary night blindness 1A, Congenital stationary night blindness 1A |
| RS1555967263 | Health Risk | Likely pathogenic | Abnormality of the eye, Abnormality of the eye |
| RS1555967281 | Health Risk | Likely pathogenic | Congenital stationary night blindness, Congenital stationary night blindness |
| RS1602180478 | Health Risk | Likely pathogenic | Congenital stationary night blindness, Congenital stationary night blindness |
| RS1602181006 | Health Risk | Likely pathogenic | Congenital stationary night blindness, Congenital stationary night blindness |
| RS2064376489 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2064378728 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2147026677 | Health Risk | Likely pathogenic | Congenital stationary night blindness 1A, Congenital stationary night blindness 1A |
| RS2519607262 | Health Risk | Likely pathogenic | Congenital stationary night blindness 1A, Congenital stationary night blindness 1A |
| RS2519608394 | Health Risk | Likely pathogenic | Congenital stationary night blindness 1A, Congenital stationary night blindness 1A |
| RS776200278 | Health Risk | Likely pathogenic | — |
| RS104894910 | Health Risk | Pathogenic | Congenital stationary night blindness 1A, Congenital stationary night blindness 1A |
| RS104894911 | Health Risk | Pathogenic | Congenital stationary night blindness 1A, Congenital stationary night blindness 1A |
| RS1602180791 | Health Risk | Pathogenic | Congenital stationary night blindness, Congenital stationary night blindness |
| RS1602181043 | Health Risk | Pathogenic | Congenital stationary night blindness, Congenital stationary night blindness 1A, Congenital stationary night blindness |
| RS1602181253 | Health Risk | Pathogenic | Congenital stationary night blindness, Congenital stationary night blindness |
| RS2147025679 | Health Risk | Pathogenic | — |
| RS2147025694 | Health Risk | Pathogenic | — |
| RS2147025796 | Health Risk | Pathogenic | — |
| RS2147025929 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2147026037 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2147026045 | Health Risk | Pathogenic | — |
| RS2147026091 | Health Risk | Pathogenic | — |
| RS2147026251 | Health Risk | Pathogenic | — |
| RS2519606477 | Health Risk | Pathogenic | — |
| RS2519607540 | Health Risk | Pathogenic | — |
| RS2519607633 | Health Risk | Pathogenic | — |
| RS2519608175 | Health Risk | Pathogenic | — |
| RS2519608179 | Health Risk | Pathogenic | — |
| RS2519608553 | Health Risk | Pathogenic | — |
| RS281865194 | Health Risk | Pathogenic | Retinal dystrophy, Congenital stationary night blindness 1A, Retinal dystrophy |
| RS371622974 | Health Risk | Pathogenic | — |
| RS62637021 | Health Risk | Pathogenic | Congenital stationary night blindness 1A, Congenital stationary night blindness 1A |
| RS62637025 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS62637027 | Health Risk | Pathogenic | Congenital stationary night blindness 1A, Congenital stationary night blindness 1A |
| RS762359799 | Health Risk | Pathogenic | — |
| RS1555967031 | Health Risk | Pathogenic/Likely pathogenic | Congenital stationary night blindness 1A, NYX-related disorder, Congenital stationary night blindness 1A |
| RS62637029 | Health Risk | Pathogenic/Likely pathogenic | — |