SIX5 Chromosome 19
SIX homeobox 5
Upload your DNA to see your personal genotypes for variants in SIX5.
What This Gene Does
The protein encoded by this gene is a homeodomain-containing transcription factor that appears to function in the regulation of organogenesis. This gene is located downstream of the dystrophia myotonica-protein kinase gene. Mutations in this gene are a cause of branchiootorenal syndrome type 2. [provided by RefSeq, Jul 2009]
Gene Info
Gene Group
SINE class homeoboxes
Locus Type
gene with protein product
Location
19q13.32
Ensembl
ENSG00000177045
Associated Conditions (2)
Branchiootorenal syndrome 2
SIX5-related disorder
Key Variants
RS1192927373
Conflicting classifications of pathogenicity
Branchiootorenal syndrome 2, Branchiootorenal syndrome 2
Health Risk
RS1231217208
Conflicting classifications of pathogenicity
Health Risk
RS1343240837
Conflicting classifications of pathogenicity
Health Risk
RS140816771
Conflicting classifications of pathogenicity
Health Risk
RS150045306
Conflicting classifications of pathogenicity
Health Risk
RS200487992
Conflicting classifications of pathogenicity
Branchiootorenal syndrome 2, Branchiootorenal syndrome 2
Health Risk
RS2014377
Conflicting classifications of pathogenicity
Health Risk
RS368394856
Conflicting classifications of pathogenicity
Branchiootorenal syndrome 2, Branchiootorenal syndrome 2
Health Risk
RS372239517
Conflicting classifications of pathogenicity
SIX5-related disorder, Branchiootorenal syndrome 2, SIX5-related disorder
Health Risk
RS373614429
Conflicting classifications of pathogenicity
Health Risk
RS376711015
Conflicting classifications of pathogenicity
Branchiootorenal syndrome 2, Branchiootorenal syndrome 2
Health Risk
RS550402717
Conflicting classifications of pathogenicity
Branchiootorenal syndrome 2, Branchiootorenal syndrome 2
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1192927373 | Health Risk | Conflicting classifications of pathogenicity | Branchiootorenal syndrome 2, Branchiootorenal syndrome 2 |
| RS1231217208 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1343240837 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS140816771 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150045306 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200487992 | Health Risk | Conflicting classifications of pathogenicity | Branchiootorenal syndrome 2, Branchiootorenal syndrome 2 |
| RS2014377 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368394856 | Health Risk | Conflicting classifications of pathogenicity | Branchiootorenal syndrome 2, Branchiootorenal syndrome 2 |
| RS372239517 | Health Risk | Conflicting classifications of pathogenicity | SIX5-related disorder, Branchiootorenal syndrome 2, SIX5-related disorder |
| RS373614429 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376711015 | Health Risk | Conflicting classifications of pathogenicity | Branchiootorenal syndrome 2, Branchiootorenal syndrome 2 |
| RS550402717 | Health Risk | Conflicting classifications of pathogenicity | Branchiootorenal syndrome 2, Branchiootorenal syndrome 2 |
| RS569540038 | Health Risk | Conflicting classifications of pathogenicity | SIX5-related disorder, SIX5-related disorder |
| RS747084700 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS748320873 | Health Risk | Conflicting classifications of pathogenicity | Branchiootorenal syndrome 2, Branchiootorenal syndrome 2 |
| RS750672211 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS752238132 | Health Risk | Conflicting classifications of pathogenicity | SIX5-related disorder, Branchiootorenal syndrome 2, SIX5-related disorder |
| RS755502593 | Health Risk | Conflicting classifications of pathogenicity | Branchiootorenal syndrome 2, Branchiootorenal syndrome 2 |
| RS758236845 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS758444909 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS764670510 | Health Risk | Conflicting classifications of pathogenicity | Branchiootorenal syndrome 2, Branchiootorenal syndrome 2 |
| RS766034818 | Health Risk | Conflicting classifications of pathogenicity | Branchiootorenal syndrome 2, Branchiootorenal syndrome 2 |
| RS768981892 | Health Risk | Conflicting classifications of pathogenicity | Branchiootorenal syndrome 2, Branchiootorenal syndrome 2 |
| RS773681235 | Health Risk | Conflicting classifications of pathogenicity | Branchiootorenal syndrome 2, Branchiootorenal syndrome 2 |
| RS776213851 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS780053382 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS781343581 | Health Risk | Conflicting classifications of pathogenicity | Branchiootorenal syndrome 2, Branchiootorenal syndrome 2 |
| RS80356462 | Health Risk | Conflicting classifications of pathogenicity | Branchiootorenal syndrome 2, SIX5-related disorder, Branchiootorenal syndrome 2 |
| RS903976524 | Health Risk | Conflicting classifications of pathogenicity | Branchiootorenal syndrome 2, Branchiootorenal syndrome 2 |
| RS930795278 | Health Risk | Conflicting classifications of pathogenicity | Branchiootorenal syndrome 2, Branchiootorenal syndrome 2 |
| RS930806559 | Health Risk | Conflicting classifications of pathogenicity | Branchiootorenal syndrome 2, Branchiootorenal syndrome 2 |
| RS934739524 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS994404687 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS80356463 | Health Risk | Pathogenic | Branchiootorenal syndrome 2, Branchiootorenal syndrome 2 |