Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | FLNC, FLNC-AS1 (W2677* +1 more) | Single nucleotide variant (nonsense) | Myofibrillar myopathy +5 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate B +2 more | |
| | | Single nucleotide variant (missense variant) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (missense variant) | Myofibrillar myopathy | |
| | | Single nucleotide variant (missense variant) | Desmin-related myofibrillar myopathy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Desmin-related myofibrillar myopathy +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | LDB3, LOC110121486 (A165V +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +6 more | GConflicting classifications of pathogenicity |
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