SPECC1L Chromosome 22
Sperm antigen with calponin homology and coiled-coil domains 1 like
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What This Gene Does
This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]
Associated Conditions (9)
Inborn genetic diseases
Craniosynostosis syndrome
SPECC1L-related disorder
Oculomaxillofacial dysostosis
Teebi hypertelorism syndrome 1
Intellectual disability
Teebi hypertelorism syndrome
Autosomal dominant Opitz G/BBB syndrome
SPECC1L-related syndrome
Key Variants
RS1318284690
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139099983
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140698674
Conflicting classifications of pathogenicity
Craniosynostosis syndrome, Craniosynostosis syndrome
Health Risk
RS1428489706
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143004795
Conflicting classifications of pathogenicity
SPECC1L-related disorder, SPECC1L-related disorder
Health Risk
RS145506280
Conflicting classifications of pathogenicity
Inborn genetic diseases, Oculomaxillofacial dysostosis, Teebi hypertelorism syndrome 1
Health Risk
RS190313411
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, Inborn genetic diseases
Health Risk
RS199858278
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200239876
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200870836
Conflicting classifications of pathogenicity
Intellectual disability, Inborn genetic diseases, Intellectual disability
Health Risk
RS201552465
Conflicting classifications of pathogenicity
Teebi hypertelorism syndrome 1, Oculomaxillofacial dysostosis, Teebi hypertelorism syndrome 1
Health Risk
RS201626909
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (30)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1318284690 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS139099983 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS140698674 | Health Risk | Conflicting classifications of pathogenicity | Craniosynostosis syndrome, Craniosynostosis syndrome |
| RS1428489706 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS143004795 | Health Risk | Conflicting classifications of pathogenicity | SPECC1L-related disorder, SPECC1L-related disorder |
| RS145506280 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Oculomaxillofacial dysostosis, Teebi hypertelorism syndrome 1 |
| RS190313411 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, Inborn genetic diseases |
| RS199858278 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200239876 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200870836 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Inborn genetic diseases, Intellectual disability |
| RS201552465 | Health Risk | Conflicting classifications of pathogenicity | Teebi hypertelorism syndrome 1, Oculomaxillofacial dysostosis, Teebi hypertelorism syndrome 1 |
| RS201626909 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2040737476 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS35783914 | Health Risk | Conflicting classifications of pathogenicity | Teebi hypertelorism syndrome, Inborn genetic diseases, SPECC1L-related disorder |
| RS387907108 | Health Risk | Conflicting classifications of pathogenicity | Oculomaxillofacial dysostosis, Oculomaxillofacial dysostosis |
| RS547014400 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS575022840 | Health Risk | Conflicting classifications of pathogenicity | SPECC1L-related disorder, Inborn genetic diseases, SPECC1L-related disorder |
| RS757691235 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS786201031 | Health Risk | Conflicting classifications of pathogenicity | Teebi hypertelorism syndrome 1, Teebi hypertelorism syndrome 1 |
| RS1556226291 | Health Risk | Likely pathogenic | Autosomal dominant Opitz G/BBB syndrome, Autosomal dominant Opitz G/BBB syndrome |
| RS1569438496 | Health Risk | Likely pathogenic | Teebi hypertelorism syndrome, Teebi hypertelorism syndrome |
| RS1601294872 | Health Risk | Likely pathogenic | Autosomal dominant Opitz G/BBB syndrome, Teebi hypertelorism syndrome, Autosomal dominant Opitz G/BBB syndrome |
| RS1569420537 | Health Risk | Pathogenic | Teebi hypertelorism syndrome, Teebi hypertelorism syndrome |
| RS1569420568 | Health Risk | Pathogenic | Teebi hypertelorism syndrome 1, Teebi hypertelorism syndrome, Teebi hypertelorism syndrome 1 |
| RS1569420590 | Health Risk | Pathogenic | Teebi hypertelorism syndrome, Teebi hypertelorism syndrome 1, Teebi hypertelorism syndrome |
| RS1569420596 | Health Risk | Pathogenic | Teebi hypertelorism syndrome, Teebi hypertelorism syndrome |
| RS2040735453 | Health Risk | Pathogenic | Teebi hypertelorism syndrome 1, Teebi hypertelorism syndrome 1 |
| RS786201030 | Health Risk | Pathogenic | Teebi hypertelorism syndrome, Teebi hypertelorism syndrome 1, Teebi hypertelorism syndrome |
| RS111653895 | Health Risk | Pathogenic/Likely pathogenic | Teebi hypertelorism syndrome, Teebi hypertelorism syndrome 1, Teebi hypertelorism syndrome |
| RS1555874726 | Health Risk | Pathogenic/Likely pathogenic | Teebi hypertelorism syndrome, Teebi hypertelorism syndrome 1, SPECC1L-related syndrome |