| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130068275, MAGIX (R34L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number gain | Klinefelter syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC119407416, MAGIX (P225L +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion | not provided | |
| | | Deletion | Insulin-dependent diabetes mellitus secretory diarrhea syndrome | |
| | | Duplication | not provided | |
| | | Deletion | not provided | |
| | | Duplication | Neurodegeneration with brain iron accumulation 5 +2 more | |
| | | Duplication | Thrombocytopenia 1 +2 more | |
| | LOC130068275, MAGIX (G17D) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC119407416, MAGIX (P211L +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Klinefelter syndrome | |
| | | Copy number loss | Turner syndrome | |
| | | Complex | Turner syndrome | |
| | | Copy number loss | Turner syndrome | |
| | | Copy number loss | Turner syndrome | |
| | | Copy number gain | Hypotonia +2 more | |
| | PPP1R3F, PRICKLE3 +31 more | Duplication | Insulin-dependent diabetes mellitus secretory diarrhea syndrome | |
| | CXorf51B, GAGE12H +821 more | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | CXorf49B, CXorf51A +821 more | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | SLC35A2-congenital disorder of glycosylation +1 more | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Inversion | Elevated circulating creatine kinase concentration | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Duplication | Syndromic X-linked intellectual disability Lubs type | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Indel | Heterotaxy, visceral, 1, X-linked | |
| | ARMCX3, CT47A11 +2631 more | Duplication | Autism +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ZCCHC12, ZCCHC13 +698 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | 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 | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | MAGEB17, MAGEB18 +822 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | GAGE12F, GAGE12G +822 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |