| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | 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 | |
| | LOC100533997, MAGEA10 (R7H) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC100533997, MAGEA10 (A38V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC100533997, MAGEA10 (V97I) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | MAGEA10, LOC100533997 (E169G) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC100533997, MAGEA10 (Q112R) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number gain | Klinefelter syndrome | |
| | | Copy number gain | Syndromic X-linked intellectual disability Lubs type | |
| | LOC100533997, MAGEA10 (G258R) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC100533997, MAGEA10 (S289T) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC100533997, MAGEA10 (I134T) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | LOC100533997, MAGEA10 (G24D) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC100533997, MAGEA10 (R7C) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | MAGEA10, LOC100533997 (P117Q) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | MAGEA10, LOC100533997 (E26K) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC100533997, MAGEA10 (E237Q) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC100533997, MAGEA10 (I155T) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | MAGEA10, LOC100533997 (Q273R) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | MAGEA10, LOC100533997 (S95L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC100533997, MAGEA10 (I230T) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC100533997, MAGEA10 (A333S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC100533997, MAGEA10 (T362I) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number loss | 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 | |
| | | Duplication | Syndromic X-linked intellectual disability Lubs type | |
| | 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 | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Intellectual disability | |
| | | 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 | |
| | | Copy number loss | not provided | |
| | | 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 | |
| | | 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 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 | |
| | ARMCX3, CT47A11 +2631 more | Duplication | Autism +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ZCCHC12, ZCCHC13 +698 more | 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 | |
| | ARMCX5-GPRASP2, ARMCX6 +506 more | 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 gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |