| | | Single nucleotide variant (intron variant) | Limb-girdle muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Limb-girdle muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Limb-girdle muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Limb-girdle muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Limb-girdle muscular dystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Limb-girdle muscular dystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Limb-girdle muscular dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Limb-girdle muscular dystrophy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | TTN, TTN-AS1 (K22270E +5 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (intron variant +1 more) | Limb-girdle muscular dystrophy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Limb-girdle muscular dystrophy +1 more | GPathogenic/Likely pathogenic |
| | TTN-AS1, TTN (E25514fs +5 more) | Deletion (frameshift variant) | Cardiovascular phenotype +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive limb-girdle muscular dystrophy type 2I | |
| | TTN, TTN-AS1 (Q34238* +5 more) | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy type 2J +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | ANO5-related disorder +5 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (V15750I +5 more) | Single nucleotide variant (missense variant) | Tibial muscular dystrophy +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | CAV3-related disorder +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +13 more | |
| | | Single nucleotide variant (missense variant) | Myopathy +20 more | GPathogenic/Likely pathogenic |