| | | Single nucleotide variant (non-coding transcript variant) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant) | not specified | |
| | LOC130068417, LOC130068418 +2599 more | Copy number gain | Klinefelter syndrome | |
| | | Single nucleotide variant (non-coding transcript variant) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant) | not specified | |
| | | Single nucleotide variant | NXF5-related disorder | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Deletion (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant) | not specified | |
| | | Copy number gain | Klinefelter syndrome | |
| | | Deletion | not provided | |
| | | Duplication | X-linked agammaglobulinemia with growth hormone deficiency +1 more | |
| | | Single nucleotide variant (non-coding transcript variant) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | 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 | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | NXF5-related disorder +1 more | |
| | | Single nucleotide variant | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Microsatellite | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided +1 more | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Insertion | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Copy number loss | Xq21.32q23 deletion | |
| | | Single nucleotide variant (non-coding transcript variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | ARMCX4, CXorf51B +513 more | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |