Links from MedGen
Items: 6
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Deletion (frameshift variant) | CPLANE1-related disorder +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Jaundice +4 more | |
| | | Duplication (frameshift variant) | See cases +4 more | |
| | | Single nucleotide variant | Mitochondrial disease +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Protoporphyria, erythropoietic, 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Protoporphyria, erythropoietic, 1 +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene