Links from Orgtrack
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Charlevoix-Saguenay spastic ataxia | |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 8 +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | |
| | | Single nucleotide variant (missense variant) | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | |
| | | Duplication (frameshift variant) | Lissencephaly due to LIS1 mutation | |
| | | Deletion (frameshift variant) | Corticosteroid-binding globulin deficiency | |
| | | Single nucleotide variant (nonsense) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | GConflicting classifications of pathogenicity |
| | NFKB2, PSD (R853* +1 more) | Single nucleotide variant (nonsense) | not specified +4 more | |
| | | Single nucleotide variant (splice donor variant) | SBDS-related disorder +11 more | GPathogenic/Likely pathogenic |
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