| | | Single nucleotide variant | NXF5-related condition | |
| | | 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 | |
| | | 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 | |
| | | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant) | Inborn genetic diseases | |
| | | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant) | Inborn genetic diseases +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) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant) | Inborn genetic diseases | |
| | | 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) | NXF5-related condition +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 condition +1 more | |
| | | Single nucleotide variant | not provided | |
| | CXorf51B, GAGE12H +821 more | 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) | Inborn genetic diseases | |
| | 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 | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | 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) | NXF5-related condition +1 more | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |