SBF2 Chromosome 11
SET binding factor 2
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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 |
|---|---|---|---|
| RS1057524041 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1060503800 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS1242027664 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2 |
| RS1331366931 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS139217120 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4B2 |
| RS139522696 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Inborn genetic diseases |
| RS139967004 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Inborn genetic diseases |
| RS141108330 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease |
| RS141330687 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease |
| RS141368249 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4B2 |
| RS141894081 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4B2 |
| RS142261202 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Inborn genetic diseases |
| RS143209062 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease |
| RS143773975 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease |
| RS1441833591 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS144935862 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4 |
| RS145199888 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Tip-toe gait |
| RS145351367 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease |
| RS146230559 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease |
| RS1475155503 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS147597665 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease |
| RS149501654 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Inborn genetic diseases |
| RS150598413 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1554976504 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1564872328 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease |
| RS1564917788 | Health Risk | Conflicting classifications of pathogenicity | Tip-toe gait, Tip-toe gait |
| RS199894823 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease |
| RS200784979 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease |
| RS201514622 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4, Inborn genetic diseases |
| RS201951073 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS201964421 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, SBF2-related disorder |
| RS368118378 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Inborn genetic diseases |
| RS368639697 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Inborn genetic diseases |
| RS369973804 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS370918433 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2 |
| RS374841593 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4B2 |
| RS375669985 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4B2 |
| RS375742620 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, SBF2-related disorder |
| RS375912268 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2 |
| RS376372877 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4B2 |
| RS376668219 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS376685939 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2 |
| RS572571832 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease |
| RS752774091 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2 |
| RS753903194 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B2, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4B2 |
| RS757095964 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4 |
| RS759550730 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4, Inborn genetic diseases |
| RS761285505 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Inborn genetic diseases |
| RS765658939 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease |
| RS769205402 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4, Inborn genetic diseases |