| | LOC129389216, LOC129389217 +757 more | Copy number gain | See cases | |
| | | Deletion | See cases | |
| | LOC129992695, LOC129992696 +533 more | Copy number gain | See cases | |
| | ABRAXAS1, ADAMTS3 +331 more | Copy number gain | See cases | |
| | LOC129992714, LOC129992715 +236 more | Copy number loss | See cases | |
| | | Copy number loss | Chromosome 4q21 deletion syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous 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) | 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 | |
| | | Indel (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | 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 (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Insertion (intron variant) | 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 (non-coding transcript variant +2 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 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 +2 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 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 +2 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 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 +2 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (intron variant) | 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 | |
| | | Deletion (inframe_deletion +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 (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 (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 | |
| | | Microsatellite (inframe_deletion +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 | |
| | | Microsatellite (inframe_deletion +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (synonymous 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 (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 (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 (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Deletion (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |
| | | Single nucleotide variant (intron variant) | 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 (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 (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous 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 (synonymous variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1G | |