| | LOC129996786, LOC129996787
+1449 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126859762, LOC126859763
+460 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Muscular dystrophy, limb-girdle, autosomal recessive 26 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Muscular dystrophy, limb-girdle, autosomal recessive 26 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (splice acceptor variant) | Muscular dystrophy, limb-girdle, autosomal recessive 26 | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy, limb-girdle, autosomal recessive 26 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy, limb-girdle, autosomal recessive 26 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy, limb-girdle, autosomal recessive 26 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | POPDC3-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |