MLC1 Chromosome 22
Modulator of VRAC current 1
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What This Gene Does
The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Associated Conditions (8)
Megalencephalic leukoencephalopathy with subcortical cysts 1
Megalencephalic leukoencephalopathy with subcortical cysts
MLC1-related disorder
Abnormality of the nervous system
Inborn genetic diseases
Macrocephaly
Cerebellar ataxia
CNS demyelination
Key Variants
RS111520454
Conflicting classifications of pathogenicity
Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
Health Risk
RS11568178
Conflicting classifications of pathogenicity
Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts, MLC1-related disorder
Health Risk
RS1269494985
Conflicting classifications of pathogenicity
Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
Health Risk
RS1374593138
Conflicting classifications of pathogenicity
Megalencephalic leukoencephalopathy with subcortical cysts, Abnormality of the nervous system, Megalencephalic leukoencephalopathy with subcortical cysts 1
Health Risk
RS138153307
Conflicting classifications of pathogenicity
Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts 1
Health Risk
RS1569244149
Conflicting classifications of pathogenicity
Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
Health Risk
RS1569244190
Conflicting classifications of pathogenicity
Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
Health Risk
RS199625892
Conflicting classifications of pathogenicity
MLC1-related disorder, MLC1-related disorder
Health Risk
RS199707637
Conflicting classifications of pathogenicity
Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts 1
Health Risk
RS200382943
Conflicting classifications of pathogenicity
Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts 1
Health Risk
RS200463656
Conflicting classifications of pathogenicity
Megalencephalic leukoencephalopathy with subcortical cysts, MLC1-related disorder, Megalencephalic leukoencephalopathy with subcortical cysts
Health Risk
RS2146932748
Conflicting classifications of pathogenicity
Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts
Health Risk
All Variants (131)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2518488789 | Health Risk | Pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS2518502381 | Health Risk | Pathogenic | — |
| RS267607236 | Health Risk | Pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS281875309 | Health Risk | Pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS761620701 | Health Risk | Pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS764669598 | Health Risk | Pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS765490369 | Health Risk | Pathogenic | — |
| RS769089143 | Health Risk | Pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS781004589 | Health Risk | Pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts |
| RS786204747 | Health Risk | Pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS794729233 | Health Risk | Pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS80358241 | Health Risk | Pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS1050220787 | Health Risk | Pathogenic/Likely pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts |
| RS1057516465 | Health Risk | Pathogenic/Likely pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS1057517228 | Health Risk | Pathogenic/Likely pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS121908345 | Health Risk | Pathogenic/Likely pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS1425784992 | Health Risk | Pathogenic/Likely pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts |
| RS1449444164 | Health Risk | Pathogenic/Likely pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS1569248367 | Health Risk | Pathogenic/Likely pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS1602049346 | Health Risk | Pathogenic/Likely pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts |
| RS2518369951 | Health Risk | Pathogenic/Likely pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS2518488079 | Health Risk | Pathogenic/Likely pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS281875313 | Health Risk | Pathogenic/Likely pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS281875316 | Health Risk | Pathogenic/Likely pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS752428321 | Health Risk | Pathogenic/Likely pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS757250956 | Health Risk | Pathogenic/Likely pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS769135961 | Health Risk | Pathogenic/Likely pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS80358242 | Health Risk | Pathogenic/Likely pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS80358243 | Health Risk | Pathogenic/Likely pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 1, Macrocephaly, Cerebellar ataxia |
| RS80358245 | Health Risk | Pathogenic/Likely pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS865879286 | Health Risk | Pathogenic/Likely pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts |