Links from Orgtrack
Items: 8
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense) | Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (nonsense) | See cases | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | See cases | |
| | | Deletion (frameshift variant) | See cases | |
| | | Single nucleotide variant (nonsense +1 more) | Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities +1 more | |
| | | Duplication (nonsense) | See cases | |
| | | Single nucleotide variant (nonsense) | Matthew-Wood syndrome +1 more | |
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