CLUAP1 Chromosome 16
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What This Gene Does
"CLNSIG=5
Associated Conditions (3)
Joubert syndrome
Leber congenital amaurosis
Toriello-Lacassie-Droste syndrome
Key Variants
RS143126195
Conflicting classifications of pathogenicity
Health Risk
RS375848544
Conflicting classifications of pathogenicity
Health Risk
RS377189683
Conflicting classifications of pathogenicity
Health Risk
RS768663992
Likely pathogenic
Joubert syndrome, Joubert syndrome
Health Risk
RS751218423
Pathogenic
Leber congenital amaurosis, Toriello-Lacassie-Droste syndrome, Leber congenital amaurosis
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143126195 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375848544 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS377189683 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS768663992 | Health Risk | Likely pathogenic | Joubert syndrome, Joubert syndrome |
| RS751218423 | Health Risk | Pathogenic | Leber congenital amaurosis, Toriello-Lacassie-Droste syndrome, Leber congenital amaurosis |