SBF2 Chromosome 11
SET binding factor 2
Upload your DNA to see your personal genotypes for variants in SBF2.
What This Gene Does
This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"DENN domain containing|Pleckstrin homology domain containing|Myotubularins"
Locus Type
gene with protein product
Location
11p15.4
Ensembl
ENSG00000133812
Associated Conditions (8)
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease
Tip-toe gait
SBF2-related disorder
Familial cancer of breast
Ovarian serous cystadenocarcinoma
Key Variants
RS1057524041
Conflicting classifications of pathogenicity
Health Risk
RS1060503800
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
Health Risk
RS1242027664
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2
Health Risk
RS1331366931
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
Health Risk
RS139217120
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4B2
Health Risk
RS139522696
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Inborn genetic diseases
Health Risk
RS139967004
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Inborn genetic diseases
Health Risk
RS141108330
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease
Health Risk
RS141330687
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease
Health Risk
RS141368249
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4B2
Health Risk
RS141894081
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4B2
Health Risk
RS142261202
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Inborn genetic diseases
Health Risk
All Variants (131)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS769911496 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4, Inborn genetic diseases |
| RS769963369 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2 |
| RS770141264 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2 |
| RS771787085 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Inborn genetic diseases |
| RS77334447 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2 |
| RS777826645 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, SBF2-related disorder, Charcot-Marie-Tooth disease type 4 |
| RS779654145 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease |
| RS781537575 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS869312963 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Inborn genetic diseases |
| RS869312970 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Inborn genetic diseases |
| RS886048780 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2 |
| RS886048783 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2 |
| RS887143579 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease |
| RS889453292 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4 |
| RS959559753 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS1166873755 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4B2 |
| RS1343702415 | Health Risk | Likely pathogenic | — |
| RS1399471736 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS145183196 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4 |
| RS1590239797 | Health Risk | Likely pathogenic | — |
| RS1853955279 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4B2 |
| RS1856483925 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1947335024 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease |
| RS2133850270 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2133861507 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2133861770 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2135330973 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2494503596 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2494513770 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2494620013 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2494901293 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4B2 |
| RS2496112378 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2496176112 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4B2 |
| RS746642259 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS752649372 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS876661288 | Health Risk | Likely pathogenic | — |
| RS886042830 | Health Risk | Likely pathogenic | — |
| RS1032796987 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2 |
| RS1060499999 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Ovarian serous cystadenocarcinoma, Charcot-Marie-Tooth disease type 4 |
| RS1060500001 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS120074137 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4B2 |
| RS120074138 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4 |
| RS120074139 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2 |
| RS1249209712 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1270869520 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1295003959 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1345928305 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1381069212 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS141133392 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1413469900 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |