| | LOC129929105, LOC129929106 +2149 more | Copy number gain | Trisomy 12p | |
| | ATAD3C, AURKAIP1 +520 more | Copy number loss | See cases | |
| | LOC129929144, LOC129929145 +458 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LINC01786, LINC02593 +338 more | Copy number gain | See cases | |
| | TMEM240, TMEM88B +181 more | Deletion | Chromosome 1p36 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 gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129929082, LOC129929083 +238 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129929188, LOC129929189 +332 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | TMEM201, TMEM240 +806 more | 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 | |
| | | Copy number loss | See cases | |
| | LOC129929181, LOC129929182 +401 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129929093, LOC129929094 +274 more | 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 gain | 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 gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129929186, LOC129929187 +577 more | Copy number loss | See cases | |
| | LOC121677383, LOC121967042 +277 more | Copy number loss | See cases | |
| | LOC132088688, LOC132088689 +264 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126805576, LOC126805577 +68 more | Deletion | Congenital myasthenic syndrome 8 | |
| | | Copy number loss | See cases | |
| | LOC129929177, LOC129929178 +209 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | B3GALT6-related condition +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Spondyloepimetaphyseal dysplasia with joint laxity +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Spondyloepimetaphyseal dysplasia with joint laxity +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Spondyloepimetaphyseal dysplasia with joint laxity +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia with joint laxity +1 more | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepimetaphyseal dysplasia with joint laxity +1 more | |
| | | Microsatellite (inframe_insertion) | Spondyloepimetaphyseal dysplasia with joint laxity +1 more | |
| | | Duplication (inframe_insertion) | Ehlers-Danlos syndrome, spondylodysplastic type, 2 +2 more | |
| | | Duplication (inframe_insertion) | Ehlers-Danlos syndrome, spondylodysplastic type, 2 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepimetaphyseal dysplasia with joint laxity +2 more | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia with joint laxity +1 more | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepimetaphyseal dysplasia with joint laxity +1 more | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia with joint laxity +1 more | |
| | | Single nucleotide variant (missense variant) | Al-Gazali syndrome +5 more | |
| | | Duplication (frameshift variant) | Spondyloepimetaphyseal dysplasia with joint laxity +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (frameshift variant) | Spondyloepimetaphyseal dysplasia with joint laxity +1 more | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia with joint laxity +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, spondylodysplastic type, 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, spondylodysplastic type, 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepimetaphyseal dysplasia with joint laxity +1 more | |