CEP85L Chromosome 6
Centrosomal protein 85L
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What This Gene Does
The protein encoded by this gene was identified as a breast cancer antigen. Nothing more is known of its function at this time. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
Associated Conditions (5)
Lissencephaly
Lissencephaly 10
Posterior Predominant Lissencephaly
Neurodevelopmental disorder
Thick corpus callosum
Key Variants
RS1554234607
Conflicting classifications of pathogenicity
Lissencephaly, Lissencephaly 10, Lissencephaly
Health Risk
RS2115322699
Conflicting classifications of pathogenicity
Lissencephaly 10, Lissencephaly 10
Health Risk
RS1774228815
Likely pathogenic
Posterior Predominant Lissencephaly, Posterior Predominant Lissencephaly
Health Risk
RS1774229245
Likely pathogenic
Lissencephaly 10, Posterior Predominant Lissencephaly, Lissencephaly 10
Health Risk
RS1774230502
Likely pathogenic
Posterior Predominant Lissencephaly, Posterior Predominant Lissencephaly
Health Risk
RS1775537638
Likely pathogenic
Posterior Predominant Lissencephaly, Posterior Predominant Lissencephaly
Health Risk
RS2115322620
Likely pathogenic
Lissencephaly, Lissencephaly
Health Risk
RS2533741192
Likely pathogenic
Lissencephaly 10, Lissencephaly 10
Health Risk
RS767792503
Likely pathogenic
Lissencephaly 10, Lissencephaly 10
Health Risk
RS1774227158
Pathogenic
Posterior Predominant Lissencephaly, Neurodevelopmental disorder, Posterior Predominant Lissencephaly
Health Risk
RS1775537467
Pathogenic
Lissencephaly 10, Posterior Predominant Lissencephaly, Lissencephaly 10
Health Risk
RS2115322443
Pathogenic
Lissencephaly, Thick corpus callosum, Lissencephaly
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1554234607 | Health Risk | Conflicting classifications of pathogenicity | Lissencephaly, Lissencephaly 10, Lissencephaly |
| RS2115322699 | Health Risk | Conflicting classifications of pathogenicity | Lissencephaly 10, Lissencephaly 10 |
| RS1774228815 | Health Risk | Likely pathogenic | Posterior Predominant Lissencephaly, Posterior Predominant Lissencephaly |
| RS1774229245 | Health Risk | Likely pathogenic | Lissencephaly 10, Posterior Predominant Lissencephaly, Lissencephaly 10 |
| RS1774230502 | Health Risk | Likely pathogenic | Posterior Predominant Lissencephaly, Posterior Predominant Lissencephaly |
| RS1775537638 | Health Risk | Likely pathogenic | Posterior Predominant Lissencephaly, Posterior Predominant Lissencephaly |
| RS2115322620 | Health Risk | Likely pathogenic | Lissencephaly, Lissencephaly |
| RS2533741192 | Health Risk | Likely pathogenic | Lissencephaly 10, Lissencephaly 10 |
| RS767792503 | Health Risk | Likely pathogenic | Lissencephaly 10, Lissencephaly 10 |
| RS1774227158 | Health Risk | Pathogenic | Posterior Predominant Lissencephaly, Neurodevelopmental disorder, Posterior Predominant Lissencephaly |
| RS1775537467 | Health Risk | Pathogenic | Lissencephaly 10, Posterior Predominant Lissencephaly, Lissencephaly 10 |
| RS2115322443 | Health Risk | Pathogenic | Lissencephaly, Thick corpus callosum, Lissencephaly |
| RS1774226763 | Health Risk | Pathogenic/Likely pathogenic | Lissencephaly 10, Posterior Predominant Lissencephaly, Lissencephaly 10 |
| RS1774228957 | Health Risk | Pathogenic/Likely pathogenic | Lissencephaly 10, Posterior Predominant Lissencephaly, Lissencephaly 10 |
| RS754052089 | Health Risk | Pathogenic/Likely pathogenic | Lissencephaly 10, Posterior Predominant Lissencephaly, Lissencephaly 10 |