Links from Orgtrack
Items: 9
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Pigmentary pallidal degeneration | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 | |
| | | Single nucleotide variant (missense variant) | Helicoid peripapillary chorioretinal degeneration | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Amyotrophic lateral sclerosis type 12 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 3 | |
| | MIR103A2, MIR103B2
+1 more (T237M +2 more) | Single nucleotide variant (missense variant +1 more) | Pigmentary pallidal degeneration +3 more | |
| | | Single nucleotide variant (missense variant) | Metachromatic leukodystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
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