| | | Single nucleotide variant (missense variant) | Neurodegeneration with brain iron accumulation +2 more | GPathogenic/Likely pathogenic |
| | | Deletion | Eichsfeld type congenital muscular dystrophy | |
| | | Deletion | Eichsfeld type congenital muscular dystrophy | |
| | | Deletion (frameshift variant +1 more) | Eichsfeld type congenital muscular dystrophy | |
| | | Deletion (frameshift variant +1 more) | Eichsfeld type congenital muscular dystrophy | |
| | | Deletion (splice donor variant +1 more) | Eichsfeld type congenital muscular dystrophy | |
| | | Deletion (frameshift variant +1 more) | Eichsfeld type congenital muscular dystrophy | |
| | | Deletion (frameshift variant +1 more) | Eichsfeld type congenital muscular dystrophy +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Eichsfeld type congenital muscular dystrophy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Eichsfeld type congenital muscular dystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Insertion (frameshift variant +1 more) | Eichsfeld type congenital muscular dystrophy | |
| | | Microsatellite (frameshift variant +1 more) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Eichsfeld type congenital muscular dystrophy | GPathogenic/Likely pathogenic |
| | | Insertion (frameshift variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Deletion (frameshift variant +1 more) | Eichsfeld type congenital muscular dystrophy +1 more | |
| | | Duplication (frameshift variant) | Eichsfeld type congenital muscular dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Deletion (frameshift variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Duplication (frameshift variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Duplication (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy +3 more | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Duplication (inframe_insertion) | Eichsfeld type congenital muscular dystrophy | |
| | | Duplication (inframe_insertion) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (nonsense) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | SEPN1-related disorder +1 more | |
| | | Single nucleotide variant (nonsense) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Deletion (frameshift variant) | Eichsfeld type congenital muscular dystrophy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy +1 more | |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy +1 more | |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Duplication (nonsense) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Duplication (frameshift variant) | Eichsfeld type congenital muscular dystrophy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy +2 more | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Deletion (frameshift variant) | Eichsfeld type congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Eichsfeld type congenital muscular dystrophy | |