| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | | Deletion (inframe_indel) | Muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +8 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | Charcot-Marie-Tooth disease type 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | | Deletion (inframe_deletion) | Muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy +4 more | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Microsatellite (inframe_deletion) | Muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +6 more | GPathogenic/Likely pathogenic |
| | | Indel (splice acceptor variant) | Muscular dystrophy | |
| | POMT2, LOC130056175 (W226fs) | Deletion (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +3 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal dominant 4 +24 more | |
| | | Single nucleotide variant (missense variant) | PMM2-congenital disorder of glycosylation +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy +4 more | GConflicting classifications of pathogenicity |