| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | LOC111099027, TMPRSS2 (T58M +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC111099027, TMPRSS2 (V32M +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | LOC111099027, TMPRSS2 (A28T +1 more) | Single nucleotide variant (missense variant) | TMPRSS2-related disorder | |
| | | Single nucleotide variant (missense variant) | TMPRSS2-related disorder | |
| | LOC117134604, TMPRSS2 (G8R) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | EBV-positive nodal T- and NK-cell lymphoma | |
| | | Single nucleotide variant (missense variant) | EBV-positive nodal T- and NK-cell lymphoma | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC111099027, TMPRSS2 (P59L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC111099027, TMPRSS2 (T31A +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC111099027, TMPRSS2 (D34E) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Down syndrome | |
| | | Copy number loss | Delayed speech and language development | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | KRTAP13-1, KRTAP13-2 +216 more | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | LOC117134604, TMPRSS2 (G8V) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC111099027, TMPRSS2 (T75I +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | TMPRSS2, LOC111099027 (Y82D +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC111099027, TMPRSS2 (H18R +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Neurodevelopmental disorder | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Autism | |
| | | 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 | |
| | | Single nucleotide variant (synonymous variant) | TMPRSS2-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | 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 | |
| | | Microsatellite (frameshift variant) | Malignant tumor of prostate | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | PDE9A-AS1, PDXK +1160 more | Copy number gain | See cases | |
| | LOC130066843, LOC130066844 +1160 more | Copy number gain | See cases | |
| | LOC126653343, LOC126653344 +1160 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130066735, LOC130066736 +1156 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LINC00315, LINC00316 +1160 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126653350, LOC126653351 +1159 more | Copy number gain | See cases | |
| | LINC00111, LINC00112 +1160 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | TSPEAR-AS1, TSPEAR-AS2 +1160 more | Copy number gain | See cases | |
| | LOC130066578, LOC130066579 +1159 more | Copy number gain | See cases | |
| | LINC01424, LINC01436 +643 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126653316, LOC126653317 +1157 more | Copy number gain | See cases | |
| | LOC130066758, LOC130066759 +1159 more | Copy number gain | See cases | |
| | LOC130066759, LOC130066760 +586 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066717, LOC130066718 +1157 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC125418051, LOC125418052 +1159 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |