Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion | Syncope | |
| | | Single nucleotide variant (missense variant) | Syncope +1 more | |
| | | Single nucleotide variant (missense variant) | Ventricular tachycardia +4 more | |
| | | Single nucleotide variant (missense variant) | Syncope +1 more | |
| | | Single nucleotide variant (missense variant) | BAFopathy +15 more | GConflicting classifications of pathogenicity |
| | | | Familial Mediterranean fever | |
| | | Single nucleotide variant (nonsense) | Syncope | |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant +1 more) | Tibial muscular dystrophy +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Brugada syndrome 6 +8 more | GConflicting classifications of pathogenicity |
| | LOC126862264, MEFV (K695R) | Single nucleotide variant (missense variant +1 more) | Familial Mediterranean fever +9 more | GConflicting classifications of pathogenicity |
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