| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (inframe_indel +1 more) | ACTB-associated syndromic thrombocytopenia | |
| | | Deletion (frameshift variant) | ACTB-associated syndromic thrombocytopenia | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1HH +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Cardiomyopathy, familial restrictive, 4 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more | |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy 9 | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Myofibrillar myopathy 3 | |
| | LDB3, LOC110121486 (A165V +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +5 more | GPathogenic/Likely pathogenic |
| | LDB3, LOC110121486 (A147T +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
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