Links from MedGen
Items: 9
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Neuroblastoma, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | Neuroblastoma, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | Neuroblastoma, susceptibility to, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Pheochromocytoma +4 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2 +4 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 2A1 +4 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neuroblastoma, susceptibility to, 1 | |
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