ZSWIM6 Chromosome 5
Zinc finger SWIM-type containing 6
Upload your DNA to see your personal genotypes for variants in ZSWIM6.
What This Gene Does
The protein encoded by this gene contains a zinc finger SWI2/SNF2 and MuDR (SWIM) domain. Proteins with SWIM domains have been found in a diverse number of species and are predicted to interact with DNA or proteins. Mutations in this gene result in acromelic frontonasal dysostosis. [provided by RefSeq, Apr 2017]
Gene Info
Gene Group
Zinc fingers SWIM-type
Locus Type
gene with protein product
Location
5q12.1
Ensembl
ENSG00000130449
Associated Conditions (7)
Neurodevelopmental disorder with movement abnormalities
abnormal gait
and autistic features
Inborn genetic diseases
Acromelic frontonasal dysostosis
ZSWIM6 related intellectual disability
ZSWIM6-related disorder
Key Variants
RS1046738327
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features
Health Risk
RS1178371530
Conflicting classifications of pathogenicity
Health Risk
RS1184623630
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1215325430
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1251801615
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental disorder with movement abnormalities, abnormal gait
Health Risk
RS1257102056
Conflicting classifications of pathogenicity
Acromelic frontonasal dysostosis, Neurodevelopmental disorder with movement abnormalities, abnormal gait
Health Risk
RS1262946696
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1288894654
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1346946485
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138406248
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1389523495
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features
Health Risk
RS1402175424
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (50)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1046738327 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features |
| RS1178371530 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1184623630 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1215325430 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1251801615 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neurodevelopmental disorder with movement abnormalities, abnormal gait |
| RS1257102056 | Health Risk | Conflicting classifications of pathogenicity | Acromelic frontonasal dysostosis, Neurodevelopmental disorder with movement abnormalities, abnormal gait |
| RS1262946696 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1288894654 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1346946485 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS138406248 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1389523495 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features |
| RS1402175424 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1421046512 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1456197449 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS148746224 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS181002879 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS191155035 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2112275093 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2112294273 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features |
| RS2478390820 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370738954 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS372466113 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS373808727 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS375378529 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS376792824 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS528020839 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS553418522 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS561434876 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS571067306 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS745988643 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features |
| RS747444881 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS751381608 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS760505023 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS763282681 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS766238385 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS772566819 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS779283808 | Health Risk | Conflicting classifications of pathogenicity | Acromelic frontonasal dysostosis, Inborn genetic diseases, Inborn genetic diseases |
| RS780828160 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS864309616 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases, Inborn genetic diseases |
| RS896435221 | Health Risk | Conflicting classifications of pathogenicity | Acromelic frontonasal dysostosis, Neurodevelopmental disorder with movement abnormalities, abnormal gait |
| RS896504353 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features |
| RS921808376 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features |
| RS943024318 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Acromelic frontonasal dysostosis, Neurodevelopmental disorder with movement abnormalities |
| RS955750160 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS976654292 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features |
| RS983495066 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS995265434 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1554041457 | Health Risk | Likely pathogenic | — |
| RS1554041295 | Health Risk | Pathogenic/Likely pathogenic | ZSWIM6 related intellectual disability, Neurodevelopmental disorder with movement abnormalities, abnormal gait |
| RS587777695 | Health Risk | Pathogenic/Likely pathogenic | Acromelic frontonasal dysostosis, Inborn genetic diseases, Acromelic frontonasal dysostosis |