BICD2 Chromosome 9
BICD cargo adaptor 2
Upload your DNA to see your personal genotypes for variants in BICD2.
What This Gene Does
This gene is one of two human homologs of Drosophila bicaudal-D and a member of the Bicoid family. It has been implicated in dynein-mediated, minus end-directed motility along microtubules. It has also been reported to be a phosphorylation target of NIMA related kinase 8. Two alternative splice variants have been described. [provided by RefSeq, Jul 2008]
Associated Conditions (23)
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Inborn genetic diseases
Hereditary spastic paraplegia
Neuronopathy
distal hereditary motor
autosomal dominant
Myopathy
Pelvic girdle muscle weakness
BICD2-related disorder
Hereditary spastic paraplegia 3A
Charcot-Marie-Tooth disease
Spastic paraplegia
type 5B
Spinal muscular atrophy
lower extremity-predominant
2b
prenatal onset
2
AD
Autosomal dominant hereditary axonal motor and sensory neuropathy
+3 more conditions
Key Variants
RS1014182946
Conflicting classifications of pathogenicity
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Health Risk
RS1302642659
Conflicting classifications of pathogenicity
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Health Risk
RS1367809298
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Hereditary spastic paraplegia
Health Risk
RS1400779760
Conflicting classifications of pathogenicity
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Health Risk
RS140188204
Conflicting classifications of pathogenicity
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Health Risk
RS141414055
Conflicting classifications of pathogenicity
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Health Risk
RS142203302
Conflicting classifications of pathogenicity
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Health Risk
RS1445290655
Conflicting classifications of pathogenicity
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Health Risk
RS145923602
Conflicting classifications of pathogenicity
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Health Risk
RS146113445
Conflicting classifications of pathogenicity
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Health Risk
RS148287063
Conflicting classifications of pathogenicity
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Health Risk
RS1554705485
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (96)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1014182946 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS1302642659 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS1367809298 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Hereditary spastic paraplegia |
| RS1400779760 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS140188204 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS141414055 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS142203302 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS1445290655 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS145923602 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS146113445 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS148287063 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS1554705485 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1587667544 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, autosomal dominant |
| RS1587668129 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS1587669044 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS1853375829 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS1853409127 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS192669216 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS200091763 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS200542458 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS200816999 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS201274230 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS201293367 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS201771783 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS201947999 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS202119238 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS369050350 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS370179608 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, BICD2-related disorder |
| RS372251238 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS373224610 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS373760993 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS374912668 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS377156663 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS377454040 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS398123029 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS398123031 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Hereditary spastic paraplegia 3A, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS398123032 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS550312355 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS566510315 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS566572599 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS575275088 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS587777885 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Charcot-Marie-Tooth disease |
| RS61754130 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Neuronopathy, distal hereditary motor |
| RS745500617 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS748022488 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, BICD2-related disorder, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS748997644 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS754659441 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Spastic paraplegia |
| RS754667036 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS755962512 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS756910200 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Spastic paraplegia, Inborn genetic diseases |