| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130007649, LOC130007650 +1258 more | Copy number gain | See cases | |
| | LOC124625919, LOC124625920 +1009 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861648, LOC126861649 +4836 more | Copy number gain | See cases | |
| | LOC130007425, LOC130007426 +1257 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130007339, LOC130007340 +698 more | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | PRR4-related condition | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | PRH1-PRR4, PRR4 (Q120R +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | PRR4-related condition | |
| | PRH1-PRR4, PRR4 (F118S +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | PRR4-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | Pallister-Killian syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Multiple endocrine neoplasia type 4 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Complex | Breast ductal adenocarcinoma | |