| | MAGEA8, MAGEA8-AS1 (E273K) | Single nucleotide variant (missense variant) | not specified | |
| | MAGEA8, MAGEA8-AS1 (F108C) | Single nucleotide variant (missense variant) | not specified | |
| | MAGEA8, MAGEA8-AS1 (D196N) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130068417, LOC130068418 +2599 more | Copy number gain | Klinefelter syndrome | |
| | | Copy number loss | See cases | |
| | SLITRK2, SLITRK4 +221 more | Copy number loss | not provided | |
| | MAGEA8, MAGEA8-AS1 (P265L) | Single nucleotide variant (missense variant) | not specified | |
| | MAGEA8, MAGEA8-AS1 (Q255R) | Single nucleotide variant (missense variant) | not specified | |
| | MAGEA8, MAGEA8-AS1 (P200L) | Single nucleotide variant (missense variant) | not specified | |
| | MAGEA8, MAGEA8-AS1 (S198N) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | MAGEA8, MAGEA8-AS1 (R109Q) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | MAGEA8, MAGEA8-AS1 (A311V) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | Klinefelter syndrome | |
| | | Copy number gain | Syndromic X-linked intellectual disability Lubs type | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | MAGEA8, MAGEA8-AS1 (S217N) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | MAGEA8, MAGEA8-AS1 (E105G) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | MAGEA8, MAGEA8-AS1 (E291Q) | Single nucleotide variant (missense variant) | not specified | |
| | MAGEA8, MAGEA8-AS1 (Y304C) | Single nucleotide variant (missense variant) | not specified | |
| | MAGEA8, MAGEA8-AS1 (M138V) | Single nucleotide variant (missense variant) | not specified | |
| | MAGEA8, MAGEA8-AS1 (R271H) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Klinefelter syndrome | |
| | | Copy number loss | Turner syndrome | |
| | | Copy number loss | Turner syndrome | |
| | | Copy number gain | Hypotonia +2 more | |
| | | Copy number loss | not specified | |
| | | Duplication | Syndromic X-linked intellectual disability Lubs type | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | MAGEA8, MAGEA8-AS1 (I207V) | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | LOC130068788, LOC130068789 +104 more | Copy number loss | Mucopolysaccharidosis, MPS-II | |
| | | Copy number gain | not provided | |
| | ARMCX4, CXorf51B +513 more | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Intellectual disability | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Moyamoya disease | |
| | | Copy number loss | not provided | |
| | ARHGAP36, ARHGAP4 +818 more | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | 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 | |
| | | Duplication | Syndromic X-linked intellectual disability Lubs type | |
| | | Copy number loss | Premature ovarian insufficiency | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | FMR1-AS1, FMR1NB +297 more | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Duplication | not provided | |
| | | Duplication | Autism +1 more | |
| | | 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 loss | See cases | |
| | | Copy number gain | See cases | |
| | | 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 gain | See cases | |
| | | Copy number loss | See cases | |