| | LOC130005622, LOC130005623 +224 more | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Cenani-Lenz syndactyly syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cenani-Lenz syndactyly syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Sclerosteosis 2 +3 more | |
| | | Single nucleotide variant (missense variant) | LRP4-related condition +5 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cenani-Lenz syndactyly syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Cenani-Lenz syndactyly syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cenani-Lenz syndactyly syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 17 +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Cenani-Lenz syndactyly syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Cenani-Lenz syndactyly syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Cenani-Lenz syndactyly syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital myasthenic syndrome 17 +3 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cenani-Lenz syndactyly syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cenani-Lenz syndactyly syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cenani-Lenz syndactyly syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Indel (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Sclerosteosis 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Abnormality of the musculature +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | LRP4-related condition +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Sclerosteosis 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 17 +3 more | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Sclerosteosis 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (splice donor variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Sclerosteosis 2 +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Sclerosteosis 2 +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Sclerosteosis 2 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Duplication (intron variant) | Congenital myasthenic syndrome 17 +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cenani-Lenz syndactyly syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cenani-Lenz syndactyly syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Cenani-Lenz syndactyly syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cenani-Lenz syndactyly syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Sclerosteosis 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Sclerosteosis 2 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 17 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cenani-Lenz syndactyly syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Cenani-Lenz syndactyly syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Cenani-Lenz syndactyly syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Duplication (intron variant) | not provided | |