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 |
|---|---|---|---|
| RS758588310 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases |
| RS761146388 | 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 |
| RS762717269 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases |
| RS768918778 | 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 |
| RS770335133 | 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 |
| RS775155214 | 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 |
| RS776472510 | 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 |
| RS777065935 | 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 |
| RS777902159 | 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 |
| RS777986224 | 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 |
| RS779170531 | 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 |
| RS779298360 | 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 |
| RS779406194 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases |
| RS779949554 | 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 |
| RS780485203 | 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 |
| RS878944571 | 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 |
| RS916661191 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Neuronopathy, distal hereditary motor |
| RS1064795764 | Health Risk | Likely pathogenic | — |
| RS1263279945 | Health Risk | Likely pathogenic | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS1587668077 | Health Risk | Likely pathogenic | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS1587668769 | Health Risk | Likely pathogenic | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS1587668852 | Health Risk | Likely pathogenic | Spinal muscular atrophy, lower extremity-predominant, 2b |
| RS1587671674 | Health Risk | Likely pathogenic | Neuronopathy, distal hereditary motor, autosomal dominant |
| RS1853349816 | Health Risk | Likely pathogenic | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS1853488507 | Health Risk | Likely pathogenic | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS2131504104 | Health Risk | Likely pathogenic | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS2131504115 | Health Risk | Likely pathogenic | — |
| RS2490453128 | Health Risk | Likely pathogenic | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS2490459149 | Health Risk | Likely pathogenic | Spinal muscular atrophy, lower extremity-predominant, 2b |
| RS376312313 | Health Risk | Likely pathogenic | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS797044920 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS797045412 | Health Risk | Likely pathogenic | Spinal muscular atrophy, lower extremity-predominant, 2 |
| RS1064793875 | Health Risk | Pathogenic | — |
| RS1554705383 | Health Risk | Pathogenic | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS1564061982 | Health Risk | Pathogenic | Spinal muscular atrophy, lower extremity-predominant, 2b |
| RS1587668748 | Health Risk | Pathogenic | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS1587668798 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, autosomal dominant |
| RS2131500576 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2490440555 | Health Risk | Pathogenic | — |
| RS2490442124 | Health Risk | Pathogenic | Spinal muscular atrophy with lower extremity predominance, Spinal muscular atrophy with lower extremity predominance |
| RS398123028 | Health Risk | Pathogenic | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Spinal muscular atrophy, Neuronopathy |
| RS398123030 | Health Risk | Pathogenic | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS1064795760 | Health Risk | Pathogenic/Likely pathogenic | 14 conditions, Spinal muscular atrophy, lower extremity-predominant |
| RS1131691347 | Health Risk | Pathogenic/Likely pathogenic | Spinal muscular atrophy, lower extremity-predominant, 2b |
| RS2131499515 | Health Risk | Pathogenic/Likely pathogenic | Spinal muscular atrophy, lower extremity-predominant, 2b |
| RS371707778 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |