TMEM240 Chromosome 1
Transmembrane protein 240
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What This Gene Does
This gene encodes a transmembrane-domain containing protein found in the brain and cerebellum. Mutations in this gene result in spinocerebellar ataxia 21. [provided by RefSeq, Dec 2014]
Associated Conditions (3)
Spinocerebellar ataxia type 21
Inborn genetic diseases
Neurodevelopmental disorder
Key Variants
RS1045410944
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 21, Inborn genetic diseases, Spinocerebellar ataxia type 21
Health Risk
RS1057518011
Conflicting classifications of pathogenicity
Inborn genetic diseases, Spinocerebellar ataxia type 21, Inborn genetic diseases
Health Risk
RS606231454
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 21, Spinocerebellar ataxia type 21
Health Risk
RS606231455
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 21, Neurodevelopmental disorder, Spinocerebellar ataxia type 21
Health Risk
RS755714285
Conflicting classifications of pathogenicity
Health Risk
RS763953379
Conflicting classifications of pathogenicity
Health Risk
RS765598128
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS779413548
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 21, Inborn genetic diseases, Spinocerebellar ataxia type 21
Health Risk
RS2100695149
Likely pathogenic
Spinocerebellar ataxia type 21, Spinocerebellar ataxia type 21
Health Risk
RS606231452
Pathogenic
Spinocerebellar ataxia type 21, Spinocerebellar ataxia type 21
Health Risk
RS606231451
Pathogenic/Likely pathogenic
Spinocerebellar ataxia type 21, Spinocerebellar ataxia type 21
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1045410944 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia type 21, Inborn genetic diseases, Spinocerebellar ataxia type 21 |
| RS1057518011 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Spinocerebellar ataxia type 21, Inborn genetic diseases |
| RS606231454 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia type 21, Spinocerebellar ataxia type 21 |
| RS606231455 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia type 21, Neurodevelopmental disorder, Spinocerebellar ataxia type 21 |
| RS755714285 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS763953379 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS765598128 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS779413548 | Health Risk | Conflicting classifications of pathogenicity | Spinocerebellar ataxia type 21, Inborn genetic diseases, Spinocerebellar ataxia type 21 |
| RS2100695149 | Health Risk | Likely pathogenic | Spinocerebellar ataxia type 21, Spinocerebellar ataxia type 21 |
| RS606231452 | Health Risk | Pathogenic | Spinocerebellar ataxia type 21, Spinocerebellar ataxia type 21 |
| RS606231451 | Health Risk | Pathogenic/Likely pathogenic | Spinocerebellar ataxia type 21, Spinocerebellar ataxia type 21 |