MYO5B Chromosome 18
Myosin VB
Upload your DNA to see your personal genotypes for variants in MYO5B.
What This Gene Does
The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
"Myosin heavy chains, class V|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
18q21.1
Ensembl
ENSG00000167306
Associated Conditions (16)
Congenital microvillous atrophy
Cholestasis
progressive familial intrahepatic
10
Inborn genetic diseases
MYO5B-related disorder
Ovarian serous cystadenocarcinoma
Cholangiocarcinoma
Uterine corpus endometrial carcinoma
Colorectal cancer
Melanoma
Malignant tumor of urinary bladder
Familial cancer of breast
Inflammatory bowel disease 1
DIARRHEA 2
WITH MICROVILLUS ATROPHY AND CHOLESTASIS
Key Variants
RS1007521035
Conflicting classifications of pathogenicity
Congenital microvillous atrophy, Cholestasis, progressive familial intrahepatic
Health Risk
RS1013131972
Conflicting classifications of pathogenicity
Congenital microvillous atrophy, Congenital microvillous atrophy
Health Risk
RS1166138315
Conflicting classifications of pathogenicity
Congenital microvillous atrophy, Inborn genetic diseases, Congenital microvillous atrophy
Health Risk
RS121908105
Conflicting classifications of pathogenicity
Congenital microvillous atrophy, Congenital microvillous atrophy
Health Risk
RS1283622290
Conflicting classifications of pathogenicity
Congenital microvillous atrophy, MYO5B-related disorder, Congenital microvillous atrophy
Health Risk
RS138743872
Conflicting classifications of pathogenicity
Congenital microvillous atrophy, MYO5B-related disorder, Inborn genetic diseases
Health Risk
RS147405294
Conflicting classifications of pathogenicity
Congenital microvillous atrophy, MYO5B-related disorder, Congenital microvillous atrophy
Health Risk
RS16951352
Conflicting classifications of pathogenicity
Congenital microvillous atrophy, MYO5B-related disorder, Congenital microvillous atrophy
Health Risk
RS180849030
Conflicting classifications of pathogenicity
Congenital microvillous atrophy, Congenital microvillous atrophy
Health Risk
RS183991942
Conflicting classifications of pathogenicity
Congenital microvillous atrophy, Congenital microvillous atrophy
Health Risk
RS185840586
Conflicting classifications of pathogenicity
Congenital microvillous atrophy, Congenital microvillous atrophy
Health Risk
RS190674457
Conflicting classifications of pathogenicity
Congenital microvillous atrophy, Congenital microvillous atrophy
Health Risk
All Variants (134)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS755378266 | Health Risk | Conflicting classifications of pathogenicity | Congenital microvillous atrophy, Congenital microvillous atrophy |
| RS762039116 | Health Risk | Conflicting classifications of pathogenicity | Congenital microvillous atrophy, Congenital microvillous atrophy |
| RS76213287 | Health Risk | Conflicting classifications of pathogenicity | Congenital microvillous atrophy, MYO5B-related disorder, Cholestasis |
| RS770764473 | Health Risk | Conflicting classifications of pathogenicity | Inflammatory bowel disease 1, Cholestasis, progressive familial intrahepatic |
| RS772273050 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS776027486 | Health Risk | Conflicting classifications of pathogenicity | Congenital microvillous atrophy, MYO5B-related disorder, Congenital microvillous atrophy |
| RS776785214 | Health Risk | Conflicting classifications of pathogenicity | Congenital microvillous atrophy, Congenital microvillous atrophy |
| RS777038090 | Health Risk | Conflicting classifications of pathogenicity | Cholestasis, progressive familial intrahepatic, 10 |
| RS777155836 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS777281668 | Health Risk | Conflicting classifications of pathogenicity | Congenital microvillous atrophy, MYO5B-related disorder, Congenital microvillous atrophy |
| RS777961930 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, MYO5B-related disorder, Inborn genetic diseases |
| RS779466520 | Health Risk | Conflicting classifications of pathogenicity | Congenital microvillous atrophy, Congenital microvillous atrophy |
| RS781209064 | Health Risk | Conflicting classifications of pathogenicity | Congenital microvillous atrophy, Congenital microvillous atrophy |
| RS1271807828 | Health Risk | Likely pathogenic | Congenital microvillous atrophy, Congenital microvillous atrophy |
| RS1325368359 | Health Risk | Likely pathogenic | — |
| RS1555648414 | Health Risk | Likely pathogenic | Congenital microvillous atrophy, MYO5B-related disorder, Congenital microvillous atrophy |
| RS1555793103 | Health Risk | Likely pathogenic | Congenital microvillous atrophy, Congenital microvillous atrophy |
| RS1598840811 | Health Risk | Likely pathogenic | — |
| RS2144194879 | Health Risk | Likely pathogenic | Congenital microvillous atrophy, Congenital microvillous atrophy |
| RS2144390075 | Health Risk | Likely pathogenic | Congenital microvillous atrophy, Congenital microvillous atrophy |
| RS2511259913 | Health Risk | Likely pathogenic | Congenital microvillous atrophy, Congenital microvillous atrophy |
| RS2511303393 | Health Risk | Likely pathogenic | — |
| RS374808967 | Health Risk | Likely pathogenic | — |
| RS377364712 | Health Risk | Likely pathogenic | — |
| RS727505394 | Health Risk | Likely pathogenic | Congenital microvillous atrophy, Congenital microvillous atrophy |
| RS727505395 | Health Risk | Likely pathogenic | Congenital microvillous atrophy, Congenital microvillous atrophy |
| RS757745239 | Health Risk | Likely pathogenic | Congenital microvillous atrophy, Cholestasis, progressive familial intrahepatic |
| RS779188563 | Health Risk | Likely pathogenic | Congenital microvillous atrophy, Congenital microvillous atrophy |
| RS1014035512 | Health Risk | Pathogenic | Congenital microvillous atrophy, Congenital microvillous atrophy |
| RS1214505775 | Health Risk | Pathogenic | — |
| RS121908103 | Health Risk | Pathogenic | Congenital microvillous atrophy, Congenital microvillous atrophy |
| RS121908104 | Health Risk | Pathogenic | Congenital microvillous atrophy, Congenital microvillous atrophy |
| RS121908106 | Health Risk | Pathogenic | Congenital microvillous atrophy, Congenital microvillous atrophy |
| RS1239739885 | Health Risk | Pathogenic | — |
| RS1258766593 | Health Risk | Pathogenic | Cholestasis, progressive familial intrahepatic, 10 |
| RS1264355256 | Health Risk | Pathogenic | Congenital microvillous atrophy, Congenital microvillous atrophy |
| RS1290546936 | Health Risk | Pathogenic | — |
| RS1369547753 | Health Risk | Pathogenic | DIARRHEA 2, WITH MICROVILLUS ATROPHY AND CHOLESTASIS, DIARRHEA 2 |
| RS1399608211 | Health Risk | Pathogenic | — |
| RS1402652492 | Health Risk | Pathogenic | — |
| RS1458560992 | Health Risk | Pathogenic | — |
| RS1555793199 | Health Risk | Pathogenic | Congenital microvillous atrophy, Congenital microvillous atrophy |
| RS1568025953 | Health Risk | Pathogenic | Congenital microvillous atrophy, Congenital microvillous atrophy |
| RS1568049625 | Health Risk | Pathogenic | — |
| RS1598870169 | Health Risk | Pathogenic | Congenital microvillous atrophy, Congenital microvillous atrophy |
| RS200358260 | Health Risk | Pathogenic | — |
| RS2024226065 | Health Risk | Pathogenic | Congenital microvillous atrophy, Congenital microvillous atrophy |
| RS2025577400 | Health Risk | Pathogenic | — |
| RS2025722754 | Health Risk | Pathogenic | DIARRHEA 2, WITH MICROVILLUS ATROPHY AND CHOLESTASIS, DIARRHEA 2 |
| RS2025724709 | Health Risk | Pathogenic | Congenital microvillous atrophy, Congenital microvillous atrophy |