GAS2L2 Chromosome 17
Growth arrest specific 2 like 2
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What This Gene Does
The protein encoded by this gene appears to crosslink microtubules and microfilaments and may be part of the cytoskeleton. This gene is mainly expressed in skeletal muscle. [provided by RefSeq, Jul 2011]
Associated Conditions (5)
GAS2L2-related disorder
Ciliary dyskinesia
primary
41
Primary ciliary dyskinesia 3
Key Variants
RS146187323
Conflicting classifications of pathogenicity
GAS2L2-related disorder, Ciliary dyskinesia, primary
Health Risk
RS587600563
Conflicting classifications of pathogenicity
Ciliary dyskinesia, primary, 41
Health Risk
RS2509920625
Pathogenic
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146187323 | Health Risk | Conflicting classifications of pathogenicity | GAS2L2-related disorder, Ciliary dyskinesia, primary |
| RS587600563 | Health Risk | Conflicting classifications of pathogenicity | Ciliary dyskinesia, primary, 41 |
| RS2509920625 | Health Risk | Pathogenic | Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |