Links from Orgtrack
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Familial Mediterranean fever | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | LOC126862264, MEFV (E685K) | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever | |
| | | Single nucleotide variant (missense variant) | Familial Mediterranean fever, autosomal dominant +2 more | GConflicting classifications of pathogenicity |
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