| | LOC130060143, LOC130060144 +963 more | Copy number gain | See cases | |
| | MIR22HG, MIR3183 +464 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130059866, LOC130059867 +499 more | Copy number loss | See cases | |
| | LOC130060077, LOC130060078 +911 more | Copy number gain | Chromosome 17p13.3 duplication syndrome | |
| | LOC130060025, LOC130060026 +458 more | 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 gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | not provided | |
| | | Copy number loss | See cases | Gconflicting data from submitters |
| | | Copy number loss | See cases | |
| | LOC130060037, LOC130060038 +291 more | Copy number loss | See cases | |
| | | Deletion | Normal pregnancy | |
| | | Single nucleotide variant (intron variant) | P2RX5-related condition +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | P2RX5-TAX1BP3, P2RX5 (A367T +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | P2RX5, P2RX5-TAX1BP3 (Q154* +4 more) | Single nucleotide variant (non-coding transcript variant +1 more) | P2RX5-related condition | |
| | P2RX5-TAX1BP3, P2RX5 (E328K +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | P2RX5, P2RX5-TAX1BP3 (E327K +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | P2RX5, P2RX5-TAX1BP3 (R323C +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | P2RX5, P2RX5-TAX1BP3 (D308E +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | P2RX5, P2RX5-TAX1BP3 (G302R +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | P2RX5, P2RX5-TAX1BP3 (G293R +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | P2RX5-TAX1BP3, P2RX5 (A291T +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | P2RX5-TAX1BP3, P2RX5 (A279T +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | P2RX5, P2RX5-TAX1BP3 (R302* +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | P2RX5-TAX1BP3, P2RX5 (L280V +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | P2RX5, P2RX5-TAX1BP3 (V212G +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | P2RX5-TAX1BP3, P2RX5 (G210V +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | P2RX5-TAX1BP3, P2RX5 (R197C +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | P2RX5, P2RX5-TAX1BP3 (F188V +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | P2RX5, P2RX5-TAX1BP3 (E154Q +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | P2RX5, P2RX5-TAX1BP3 (T149S +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | P2RX5-TAX1BP3, P2RX5 (R136G +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | P2RX5-TAX1BP3, P2RX5 (R127H +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | P2RX5-TAX1BP3, P2RX5 (V117I +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | P2RX5, P2RX5-TAX1BP3 (D110N +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | P2RX5-TAX1BP3, P2RX5 (A104T +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | P2RX5, P2RX5-TAX1BP3 (V117I) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | P2RX5, P2RX5-TAX1BP3 (R114W) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | P2RX5, P2RX5-TAX1BP3 (N112fs) | Deletion (non-coding transcript variant +2 more) | not specified | |
| | P2RX5-TAX1BP3, P2RX5 (V100F) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | P2RX5, P2RX5-TAX1BP3 (N99Y) | Single nucleotide variant (non-coding transcript variant +2 more) | Inborn genetic diseases | |
| | P2RX5, P2RX5-TAX1BP3 (A95V) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | P2RX5-TAX1BP3, P2RX5 (V92I) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | P2RX5, P2RX5-TAX1BP3 (V73M) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | P2RX5-TAX1BP3, P2RX5 (D59Y) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | P2RX5, P2RX5-TAX1BP3 (F14L) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Deletion | not provided | |
| | | Deletion | Spongy degeneration of central nervous system | |
| | | Copy number loss | not provided | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Primary familial dilated cardiomyopathy | |
| | | Copy number loss | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Chromosome 17P13.3, telomeric, duplication syndrome | |
| | | Deletion | TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | TNFSF12, TNFSF12-TNFSF13 +1143 more | 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 | |