VAPB Chromosome 20
VAMP associated protein B and C
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What This Gene Does
The protein encoded by this gene is a type IV membrane protein found in plasma and intracellular vesicle membranes. The encoded protein is found as a homodimer and as a heterodimer with VAPA. This protein also can interact with VAMP1 and VAMP2 and may be involved in vesicle trafficking. [provided by RefSeq, Jul 2008]
Associated Conditions (5)
Amyotrophic lateral sclerosis type 8
Adult-onset proximal spinal muscular atrophy
autosomal dominant
Inborn genetic diseases
VAPB-related disorder
Key Variants
RS143424619
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant
Health Risk
RS144718603
Conflicting classifications of pathogenicity
Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8
Health Risk
RS145483046
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant
Health Risk
RS149215094
Conflicting classifications of pathogenicity
Inborn genetic diseases, Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy
Health Risk
RS201798741
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant
Health Risk
RS566283411
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant
Health Risk
RS747208140
Conflicting classifications of pathogenicity
Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8
Health Risk
RS750394268
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant
Health Risk
RS753611165
Conflicting classifications of pathogenicity
Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8
Health Risk
RS757744162
Conflicting classifications of pathogenicity
Inborn genetic diseases, Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy
Health Risk
RS777316448
Conflicting classifications of pathogenicity
Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8
Health Risk
RS780851496
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143424619 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant |
| RS144718603 | Health Risk | Conflicting classifications of pathogenicity | Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8 |
| RS145483046 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant |
| RS149215094 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy |
| RS201798741 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant |
| RS566283411 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant |
| RS747208140 | Health Risk | Conflicting classifications of pathogenicity | Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8 |
| RS750394268 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant |
| RS753611165 | Health Risk | Conflicting classifications of pathogenicity | Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8 |
| RS757744162 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy |
| RS777316448 | Health Risk | Conflicting classifications of pathogenicity | Adult-onset proximal spinal muscular atrophy, autosomal dominant, Amyotrophic lateral sclerosis type 8 |
| RS780851496 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant |
| RS786205553 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant |
| RS886056811 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant |
| RS281875284 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 8, Amyotrophic lateral sclerosis type 8 |
| RS74315431 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy, autosomal dominant |