BSND Chromosome 1
Barttin CLCNK type accessory subunit beta
Upload your DNA to see your personal genotypes for variants in BSND.
What This Gene Does
This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness. [provided by RefSeq, Jul 2008]
Associated Conditions (9)
Bartter disease type 4A
Inborn genetic diseases
Bartter syndrome
BSND-related disorder
Bartter syndrome type 4
Sensorineural deafness with mild renal dysfunction
Hearing loss
autosomal recessive
Hearing impairment
Key Variants
RS1188080726
Conflicting classifications of pathogenicity
Bartter disease type 4A, Bartter disease type 4A
Health Risk
RS1301227852
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139049536
Conflicting classifications of pathogenicity
Bartter disease type 4A, Inborn genetic diseases, Bartter disease type 4A
Health Risk
RS141403253
Conflicting classifications of pathogenicity
Bartter disease type 4A, Bartter syndrome, Bartter disease type 4A
Health Risk
RS143711308
Conflicting classifications of pathogenicity
Bartter syndrome, Inborn genetic diseases, Bartter syndrome
Health Risk
RS147394986
Conflicting classifications of pathogenicity
Bartter syndrome, Inborn genetic diseases, Bartter syndrome
Health Risk
RS150426464
Conflicting classifications of pathogenicity
Health Risk
RS180858237
Conflicting classifications of pathogenicity
Bartter disease type 4A, Bartter syndrome, Bartter disease type 4A
Health Risk
RS199832638
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200071888
Conflicting classifications of pathogenicity
Bartter disease type 4A, Inborn genetic diseases, Bartter disease type 4A
Health Risk
RS200246335
Conflicting classifications of pathogenicity
Bartter disease type 4A, Bartter syndrome, Inborn genetic diseases
Health Risk
RS201342416
Conflicting classifications of pathogenicity
Bartter disease type 4A, Bartter syndrome, BSND-related disorder
Health Risk
All Variants (51)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1188080726 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 4A, Bartter disease type 4A |
| RS1301227852 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS139049536 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 4A, Inborn genetic diseases, Bartter disease type 4A |
| RS141403253 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 4A, Bartter syndrome, Bartter disease type 4A |
| RS143711308 | Health Risk | Conflicting classifications of pathogenicity | Bartter syndrome, Inborn genetic diseases, Bartter syndrome |
| RS147394986 | Health Risk | Conflicting classifications of pathogenicity | Bartter syndrome, Inborn genetic diseases, Bartter syndrome |
| RS150426464 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS180858237 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 4A, Bartter syndrome, Bartter disease type 4A |
| RS199832638 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200071888 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 4A, Inborn genetic diseases, Bartter disease type 4A |
| RS200246335 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 4A, Bartter syndrome, Inborn genetic diseases |
| RS201342416 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 4A, Bartter syndrome, BSND-related disorder |
| RS202128855 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 4A, Inborn genetic diseases, Bartter disease type 4A |
| RS368725660 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS540317305 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS74315288 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 4A, Bartter syndrome type 4, Bartter disease type 4A |
| RS747359694 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 4A, Bartter disease type 4A |
| RS750027126 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 4A, Bartter syndrome, Bartter disease type 4A |
| RS754819005 | Health Risk | Conflicting classifications of pathogenicity | Bartter syndrome, Bartter syndrome |
| RS755897497 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 4A, Bartter syndrome, Bartter disease type 4A |
| RS765135576 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 4A, Bartter disease type 4A |
| RS775406885 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS777656311 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS781101708 | Health Risk | Conflicting classifications of pathogenicity | Bartter syndrome, Inborn genetic diseases, Bartter syndrome |
| RS886046424 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 4A, Bartter syndrome, Bartter disease type 4A |
| RS1007109925 | Health Risk | Likely pathogenic | Bartter syndrome, Bartter disease type 4A, Bartter syndrome |
| RS1301110174 | Health Risk | Likely pathogenic | Bartter syndrome, Bartter syndrome |
| RS2523079307 | Health Risk | Likely pathogenic | — |
| RS2523082824 | Health Risk | Likely pathogenic | — |
| RS121908144 | Health Risk | Pathogenic | Sensorineural deafness with mild renal dysfunction, Bartter disease type 4A, Hearing loss |
| RS121908145 | Health Risk | Pathogenic | Sensorineural deafness with mild renal dysfunction, Hearing impairment, Bartter disease type 4A |
| RS1267623393 | Health Risk | Pathogenic | — |
| RS1486736339 | Health Risk | Pathogenic | — |
| RS1557485170 | Health Risk | Pathogenic | — |
| RS1644348992 | Health Risk | Pathogenic | — |
| RS1644394677 | Health Risk | Pathogenic | — |
| RS1644395880 | Health Risk | Pathogenic | — |
| RS2100208563 | Health Risk | Pathogenic | — |
| RS2101647629 | Health Risk | Pathogenic | — |
| RS2523064807 | Health Risk | Pathogenic | — |
| RS2523082968 | Health Risk | Pathogenic | — |
| RS2523083336 | Health Risk | Pathogenic | — |
| RS74315284 | Health Risk | Pathogenic | Bartter disease type 4A, Bartter disease type 4A |
| RS74315285 | Health Risk | Pathogenic | Bartter disease type 4A, Bartter syndrome, Bartter disease type 4A |
| RS771232166 | Health Risk | Pathogenic | Bartter disease type 4A, Bartter disease type 4A |
| RS774047416 | Health Risk | Pathogenic | — |
| RS1389952796 | Health Risk | Pathogenic/Likely pathogenic | Bartter disease type 4A, Bartter disease type 4A |
| RS74315286 | Health Risk | Pathogenic/Likely pathogenic | Bartter disease type 4A, Bartter syndrome, Bartter disease type 4A |
| RS74315287 | Health Risk | Pathogenic/Likely pathogenic | Bartter disease type 4A, Bartter syndrome, Bartter disease type 4A |
| RS74315289 | Health Risk | Pathogenic/Likely pathogenic | Bartter disease type 4A, Bartter syndrome, BSND-related disorder |