TULP1 Chromosome 6
TUB like protein 1
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What This Gene Does
This gene encodes a member of the tubby-like gene family (TULPs). Members of this family have been identified in plants, vertebrates, and invertebrates. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. The protein encoded by this gene is thought to play a role in the physiology of photoreceptors. Mutations in this gene are associated with recessive juvenile retinitis pigmentosa and Leber congenital amaurosis-15. [provided by RefSeq, Nov 2016]
Associated Conditions (18)
Leber congenital amaurosis 15
Retinitis pigmentosa
TULP1-related disorder
Retinitis pigmentosa 14
Leber congenital amaurosis
Retinal dystrophy
Leber congenital amaurosis 1
Inborn genetic diseases
Autosomal recessive retinitis pigmentosa
Stargardt disease
Abnormality of the eye
See cases
Polydactyly
postaxial
type A1
Brachydactyly
Syndactyly
Retinal degeneration
Key Variants
RS1031077618
Conflicting classifications of pathogenicity
Leber congenital amaurosis 15, Retinitis pigmentosa, Leber congenital amaurosis 15
Health Risk
RS1040415272
Conflicting classifications of pathogenicity
Health Risk
RS1085307806
Conflicting classifications of pathogenicity
Retinitis pigmentosa, TULP1-related disorder, Retinitis pigmentosa
Health Risk
RS113772629
Conflicting classifications of pathogenicity
Health Risk
RS117920214
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Leber congenital amaurosis 15, Retinitis pigmentosa
Health Risk
RS121909075
Conflicting classifications of pathogenicity
Retinitis pigmentosa 14, Leber congenital amaurosis, Retinal dystrophy
Health Risk
RS121909077
Conflicting classifications of pathogenicity
Retinitis pigmentosa 14, Leber congenital amaurosis, Retinitis pigmentosa 14
Health Risk
RS1286919081
Conflicting classifications of pathogenicity
Leber congenital amaurosis 15, Retinitis pigmentosa, Leber congenital amaurosis 15
Health Risk
RS1313593155
Conflicting classifications of pathogenicity
Leber congenital amaurosis 1, Retinal dystrophy, Leber congenital amaurosis 1
Health Risk
RS138133926
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139402633
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Leber congenital amaurosis 15, Inborn genetic diseases
Health Risk
RS141980901
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Leber congenital amaurosis 15, TULP1-related disorder
Health Risk
All Variants (154)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1761185782 | Health Risk | Pathogenic | — |
| RS1768797517 | Health Risk | Pathogenic | — |
| RS1768803733 | Health Risk | Pathogenic | — |
| RS201070350 | Health Risk | Pathogenic | Retinitis pigmentosa 14, Leber congenital amaurosis 15, Leber congenital amaurosis |
| RS201836697 | Health Risk | Pathogenic | Retinitis pigmentosa 14, Retinitis pigmentosa 14 |
| RS2150921548 | Health Risk | Pathogenic | Leber congenital amaurosis 15, Leber congenital amaurosis 15 |
| RS2150921635 | Health Risk | Pathogenic | — |
| RS2150924260 | Health Risk | Pathogenic | — |
| RS2150925392 | Health Risk | Pathogenic | Leber congenital amaurosis 15, Retinal dystrophy, Leber congenital amaurosis 15 |
| RS2150925640 | Health Risk | Pathogenic | Retinitis pigmentosa 14, Retinitis pigmentosa 14 |
| RS2150926986 | Health Risk | Pathogenic | Leber congenital amaurosis 15, Leber congenital amaurosis, Leber congenital amaurosis 15 |
| RS2150927060 | Health Risk | Pathogenic | — |
| RS2150927932 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2150928372 | Health Risk | Pathogenic | — |
| RS2150928409 | Health Risk | Pathogenic | — |
| RS2533777578 | Health Risk | Pathogenic | — |
| RS2533781714 | Health Risk | Pathogenic | — |
| RS2533788713 | Health Risk | Pathogenic | — |
| RS2533795738 | Health Risk | Pathogenic | — |
| RS2533802218 | Health Risk | Pathogenic | — |
| RS2533804575 | Health Risk | Pathogenic | — |
| RS2533809296 | Health Risk | Pathogenic | — |
| RS376074938 | Health Risk | Pathogenic | — |
| RS551519696 | Health Risk | Pathogenic | Leber congenital amaurosis 15, Leber congenital amaurosis, Leber congenital amaurosis 15 |
| RS62636292 | Health Risk | Pathogenic | Retinitis pigmentosa 14, Leber congenital amaurosis 15, Retinitis pigmentosa 14 |
| RS74461100 | Health Risk | Pathogenic | TULP1-related disorder, Retinal dystrophy, TULP1-related disorder |
| RS753517944 | Health Risk | Pathogenic | — |
| RS757725696 | Health Risk | Pathogenic | Retinitis pigmentosa 14, TULP1-related disorder, Leber congenital amaurosis 15 |
| RS759802314 | Health Risk | Pathogenic | — |
| RS760829254 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS767030473 | Health Risk | Pathogenic | Leber congenital amaurosis 15, Leber congenital amaurosis 15 |
| RS770681790 | Health Risk | Pathogenic | — |
| RS771723580 | Health Risk | Pathogenic | — |
| RS773968778 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS774837301 | Health Risk | Pathogenic | — |
| RS779910894 | Health Risk | Pathogenic | Leber congenital amaurosis 15, Retinitis pigmentosa 14, Leber congenital amaurosis 15 |
| RS886042038 | Health Risk | Pathogenic | — |
| RS1331834680 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Leber congenital amaurosis 15, Retinal dystrophy |
| RS1387418594 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 15, Retinitis pigmentosa 14, Leber congenital amaurosis 15 |
| RS1554125521 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa 14, Retinitis pigmentosa |
| RS1554125752 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Leber congenital amaurosis, Retinitis pigmentosa |
| RS1581736024 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 15, Retinitis pigmentosa 14 |
| RS2533811446 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 14, See cases, Retinitis pigmentosa 14 |
| RS281865166 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 14, Leber congenital amaurosis 15, Retinitis pigmentosa 14 |
| RS281865168 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 14, Leber congenital amaurosis 15, Retinal dystrophy |
| RS281865171 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa 14 |
| RS387906836 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 15, Polydactyly, postaxial |
| RS387906837 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 15, Leber congenital amaurosis, Retinitis pigmentosa 14 |
| RS62636511 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 14, Leber congenital amaurosis, Retinal dystrophy |
| RS748972748 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 15, Retinitis pigmentosa 14, Leber congenital amaurosis |