LMBRD1 Chromosome 6
LMBR1 domain containing 1
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What This Gene Does
This gene encodes a lysosomal membrane protein that may be involved in the transport and metabolism of cobalamin. This protein also interacts with the large form of the hepatitis delta antigen and may be required for the nucleocytoplasmic shuttling of the hepatitis delta virus. Mutations in this gene are associated with the vitamin B12 metabolism disorder termed, homocystinuria-megaloblastic anemia complementation type F.[provided by RefSeq, Oct 2009]
Associated Conditions (7)
Methylmalonic aciduria and homocystinuria type cblF
Inborn genetic diseases
Cobalamin C disease
Lung cancer
Donnai-Barrow syndrome
LMBRD1-related disorder
Disorders of Intracellular Cobalamin Metabolism
Key Variants
RS1387756161
Conflicting classifications of pathogenicity
Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
Health Risk
RS143642515
Conflicting classifications of pathogenicity
Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
Health Risk
RS147270670
Conflicting classifications of pathogenicity
Methylmalonic aciduria and homocystinuria type cblF, Inborn genetic diseases, Cobalamin C disease
Health Risk
RS200639044
Conflicting classifications of pathogenicity
Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
Health Risk
RS202207965
Conflicting classifications of pathogenicity
Methylmalonic aciduria and homocystinuria type cblF, Donnai-Barrow syndrome, Methylmalonic aciduria and homocystinuria type cblF
Health Risk
RS534280770
Conflicting classifications of pathogenicity
Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
Health Risk
RS747318789
Conflicting classifications of pathogenicity
Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
Health Risk
RS757392138
Conflicting classifications of pathogenicity
Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
Health Risk
RS934259733
Conflicting classifications of pathogenicity
Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
Health Risk
RS1026913794
Likely pathogenic
Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
Health Risk
RS1767108423
Likely pathogenic
Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
Health Risk
RS2149843526
Likely pathogenic
Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
Health Risk
All Variants (51)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1387756161 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS143642515 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS147270670 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria and homocystinuria type cblF, Inborn genetic diseases, Cobalamin C disease |
| RS200639044 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS202207965 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria and homocystinuria type cblF, Donnai-Barrow syndrome, Methylmalonic aciduria and homocystinuria type cblF |
| RS534280770 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS747318789 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS757392138 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS934259733 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS1026913794 | Health Risk | Likely pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS1767108423 | Health Risk | Likely pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS2149843526 | Health Risk | Likely pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS2481328299 | Health Risk | Likely pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS2481328329 | Health Risk | Likely pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS2481410901 | Health Risk | Likely pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS2481411386 | Health Risk | Likely pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS2481466290 | Health Risk | Likely pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS2481499681 | Health Risk | Likely pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS2482216432 | Health Risk | Likely pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS2482221339 | Health Risk | Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS2482221622 | Health Risk | Likely pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS372279393 | Health Risk | Likely pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS374040562 | Health Risk | Likely pathogenic | LMBRD1-related disorder, Methylmalonic aciduria and homocystinuria type cblF, LMBRD1-related disorder |
| RS758107642 | Health Risk | Likely pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS764930914 | Health Risk | Likely pathogenic | Cobalamin C disease, Cobalamin C disease |
| RS1170149970 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS1380343985 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS141038315 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS1562112641 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS1765174711 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS1766552940 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS1767111402 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS2149844541 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS2481327951 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS2481377410 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS2481385860 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS2481411360 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS2481466497 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS2481485775 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS2482221144 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS35350789 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS561314652 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS749272546 | Health Risk | Pathogenic | Inborn genetic diseases, Methylmalonic aciduria and homocystinuria type cblF, Cobalamin C disease |
| RS768207964 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS773154173 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS779142724 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS867010959 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS1562112648 | Health Risk | Pathogenic/Likely pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS768709895 | Health Risk | Pathogenic/Likely pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF |
| RS771477094 | Health Risk | Pathogenic/Likely pathogenic | Methylmalonic aciduria and homocystinuria type cblF, Cobalamin C disease, Methylmalonic aciduria and homocystinuria type cblF |