| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Deletion (inframe_deletion +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Deletion (frameshift variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Duplication (inframe_insertion +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Duplication (inframe_insertion +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number loss | Chromosome 4q21 deletion syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | See cases +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Deletion (frameshift variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Indel (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Deletion | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |