| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (nonsense +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (nonsense +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | SGCA-related disorder | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Duplication (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Deletion (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Insertion (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Deletion (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Deletion (frameshift variant +2 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Microsatellite (frameshift variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Deletion (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Deletion (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |