| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Distal myopathy with posterior leg and anterior hand involvement +4 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +5 more | GConflicting classifications of pathogenicity |
| | FLNC, FLNC-AS1 (I1781V +1 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 5 +4 more | |
| | FLNC, FLNC-AS1 (G2118S +1 more) | Single nucleotide variant (missense variant) | Myofibrillar myopathy 5 +5 more | GConflicting classifications of pathogenicity |
| | HBB, LOC106099062
+1 more (P37H) | Single nucleotide variant (missense variant) | Erythrocytosis, familial, 6 +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene