SPATA7 Chromosome 14
Spermatogenesis associated 7
Upload your DNA to see your personal genotypes for variants in SPATA7.
What This Gene Does
This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
Associated Conditions (16)
Leber congenital amaurosis 3
Retinitis pigmentosa
Retinal dystrophy
Inborn genetic diseases
Colorectal cancer
Thyroid cancer
nonmedullary
1
Melanoma
Gastric cancer
SPATA7-related disorder
Hepatocellular carcinoma
Leber congenital amaurosis
Retinitis pigmentosa 94
variable age at onset
Autosomal recessive retinitis pigmentosa
Key Variants
RS112976233
Conflicting classifications of pathogenicity
Leber congenital amaurosis 3, Retinitis pigmentosa, Leber congenital amaurosis 3
Health Risk
RS114796215
Conflicting classifications of pathogenicity
Leber congenital amaurosis 3, Retinitis pigmentosa, Leber congenital amaurosis 3
Health Risk
RS138190453
Conflicting classifications of pathogenicity
Leber congenital amaurosis 3, Leber congenital amaurosis 3
Health Risk
RS138993523
Conflicting classifications of pathogenicity
Leber congenital amaurosis 3, Leber congenital amaurosis 3
Health Risk
RS140192398
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Leber congenital amaurosis 3, Retinitis pigmentosa
Health Risk
RS142913613
Conflicting classifications of pathogenicity
Leber congenital amaurosis 3, Retinitis pigmentosa, Retinal dystrophy
Health Risk
RS143812944
Conflicting classifications of pathogenicity
Leber congenital amaurosis 3, Retinitis pigmentosa, Inborn genetic diseases
Health Risk
RS149478294
Conflicting classifications of pathogenicity
Leber congenital amaurosis 3, Leber congenital amaurosis 3
Health Risk
RS151338404
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Leber congenital amaurosis 3, Retinitis pigmentosa
Health Risk
RS1595270842
Conflicting classifications of pathogenicity
Retinal dystrophy, Leber congenital amaurosis 3, Retinal dystrophy
Health Risk
RS185459765
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Leber congenital amaurosis 3, Retinitis pigmentosa
Health Risk
RS199560035
Conflicting classifications of pathogenicity
Leber congenital amaurosis 3, Retinitis pigmentosa, Leber congenital amaurosis 3
Health Risk
All Variants (78)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112976233 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 3, Retinitis pigmentosa, Leber congenital amaurosis 3 |
| RS114796215 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 3, Retinitis pigmentosa, Leber congenital amaurosis 3 |
| RS138190453 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 3, Leber congenital amaurosis 3 |
| RS138993523 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 3, Leber congenital amaurosis 3 |
| RS140192398 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Leber congenital amaurosis 3, Retinitis pigmentosa |
| RS142913613 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 3, Retinitis pigmentosa, Retinal dystrophy |
| RS143812944 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 3, Retinitis pigmentosa, Inborn genetic diseases |
| RS149478294 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 3, Leber congenital amaurosis 3 |
| RS151338404 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Leber congenital amaurosis 3, Retinitis pigmentosa |
| RS1595270842 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Leber congenital amaurosis 3, Retinal dystrophy |
| RS185459765 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Leber congenital amaurosis 3, Retinitis pigmentosa |
| RS199560035 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 3, Retinitis pigmentosa, Leber congenital amaurosis 3 |
| RS199727517 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Leber congenital amaurosis 3, Retinitis pigmentosa |
| RS34682727 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Leber congenital amaurosis 3, Retinitis pigmentosa |
| RS367830780 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Leber congenital amaurosis 3, Leber congenital amaurosis 3 |
| RS370110205 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 3, Inborn genetic diseases, Leber congenital amaurosis 3 |
| RS374126653 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 3, Leber congenital amaurosis 3 |
| RS375371982 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 3, Retinitis pigmentosa, Retinal dystrophy |
| RS527236050 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 3, Retinal dystrophy, Gastric cancer |
| RS750676893 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 3, Retinitis pigmentosa, Retinal dystrophy |
| RS755958987 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Leber congenital amaurosis 3, Retinitis pigmentosa |
| RS757636745 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 3, Retinitis pigmentosa, Leber congenital amaurosis 3 |
| RS763053429 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 3, Inborn genetic diseases, Leber congenital amaurosis 3 |
| RS766017194 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 3, SPATA7-related disorder, Leber congenital amaurosis 3 |
| RS767454994 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 3, Inborn genetic diseases, Retinal dystrophy |
| RS781587897 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 3, Leber congenital amaurosis 3 |
| RS867885753 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 3, Leber congenital amaurosis 3 |
| RS868032740 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 3, Leber congenital amaurosis 3 |
| RS1472791220 | Health Risk | Likely pathogenic | Leber congenital amaurosis, Leber congenital amaurosis |
| RS200244203 | Health Risk | Likely pathogenic | Leber congenital amaurosis 3, Leber congenital amaurosis, Leber congenital amaurosis |
| RS2076489265 | Health Risk | Likely pathogenic | Leber congenital amaurosis, Leber congenital amaurosis |
| RS2077134911 | Health Risk | Likely pathogenic | Leber congenital amaurosis, Leber congenital amaurosis |
| RS2077137130 | Health Risk | Likely pathogenic | Leber congenital amaurosis 3, Leber congenital amaurosis 3 |
| RS2140004149 | Health Risk | Likely pathogenic | Leber congenital amaurosis 3, Leber congenital amaurosis 3 |
| RS2504079165 | Health Risk | Likely pathogenic | Leber congenital amaurosis 3, Leber congenital amaurosis 3 |
| RS2504262624 | Health Risk | Likely pathogenic | Leber congenital amaurosis 3, Leber congenital amaurosis 3 |
| RS554224437 | Health Risk | Likely pathogenic | Leber congenital amaurosis 3, Leber congenital amaurosis 3 |
| RS777506416 | Health Risk | Likely pathogenic | Leber congenital amaurosis 3, Leber congenital amaurosis 3 |
| RS777598239 | Health Risk | Likely pathogenic | Leber congenital amaurosis, Leber congenital amaurosis |
| RS786204787 | Health Risk | Likely pathogenic | Leber congenital amaurosis 3, Leber congenital amaurosis 3 |
| RS1223558848 | Health Risk | Pathogenic | Leber congenital amaurosis 3, Leber congenital amaurosis 3 |
| RS1227147156 | Health Risk | Pathogenic | Leber congenital amaurosis 3, Leber congenital amaurosis 3 |
| RS1240995964 | Health Risk | Pathogenic | Leber congenital amaurosis 3, Leber congenital amaurosis 3 |
| RS1387058171 | Health Risk | Pathogenic | Leber congenital amaurosis 3, Leber congenital amaurosis 3 |
| RS1438636453 | Health Risk | Pathogenic | Leber congenital amaurosis 3, Leber congenital amaurosis 3 |
| RS1555370458 | Health Risk | Pathogenic | Leber congenital amaurosis 3, Leber congenital amaurosis 3 |
| RS2075555029 | Health Risk | Pathogenic | Leber congenital amaurosis 3, Leber congenital amaurosis 3 |
| RS2077123571 | Health Risk | Pathogenic | Leber congenital amaurosis 3, Leber congenital amaurosis 3 |
| RS2077123914 | Health Risk | Pathogenic | Leber congenital amaurosis 3, Leber congenital amaurosis 3 |
| RS2139995462 | Health Risk | Pathogenic | Leber congenital amaurosis 3, Leber congenital amaurosis 3 |