| | LINC01780, LINC02868 +563 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | AP4B1-AS1, PTPN22 (S765L +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | AP4B1-AS1, PTPN22 (M758V +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | AP4B1-AS1, PTPN22 (R728Q +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | AP4B1-AS1, PTPN22 (K750N +3 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | AP4B1-AS1, PTPN22 (S679F +3 more) | Single nucleotide variant (missense variant) | not provided | |
| | AP4B1-AS1, PTPN22 (S669T +3 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | AP4B1-AS1, PTPN22 (P666Q +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | AP4B1-AS1, PTPN22 (P670R +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | AP4B1-AS1, PTPN22 (S637C +3 more) | Single nucleotide variant (missense variant) | not provided | |
| | AP4B1-AS1, PTPN22 (L631P +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | AP4B1-AS1, PTPN22 (S621T +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | AP4B1-AS1, PTPN22 (F610S +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Rheumatoid arthritis | |
| | AP4B1-AS1, PTPN22 (R620W +2 more) | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | AP4B1-AS1, PTPN22 (P559A +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | AP4B1-AS1, PTPN22 (S492P +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | AP4B1-AS1, PTPN22 (S488G +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | AP4B1-AS1, PTPN22 (Y473C +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | AP4B1-AS1, PTPN22 (R455H +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | AP4B1-AS1, PTPN22 (S450C +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | AP4B1-AS1, PTPN22 (Y471N +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | AP4B1-AS1, PTPN22 (Q432E +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | AP4B1-AS1, PTPN22 (P451A +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | AP4B1-AS1, PTPN22 (A379E +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | AP4B1-AS1, PTPN22 (K411N +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | PTPN22, AP4B1-AS1 (S322F +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | AP4B1-AS1, PTPN22 (H370N +2 more) | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | AP4B1-AS1, PTPN22 (E360K +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | AP4B1-AS1, PTPN22 (L287S +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | AP4B1-AS1, PTPN22 (N260K +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | AP4B1-AS1, PTPN22 (R239Q +1 more) | Single nucleotide variant (missense variant +1 more) | PTPN22-related disorder | |
| | AP4B1-AS1, PTPN22 (R239W +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | AP4B1-AS1, PTPN22 (M221I +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | AP4B1-AS1, PTPN22 (W220R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | AP4B1-AS1, PTPN22 (R233S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | AP4B1-AS1, PTPN22 (E183D +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | AP4B1-AS1, PTPN22 (I178V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | AP4B1-AS1, PTPN22 (D197G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | PTPN22-related disorder | |
| | AP4B1-AS1, PTPN22 (R159Q +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | AP4B1-AS1, PTPN22 (R141T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | PTPN22-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Systemic lupus erythematosus | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant | Diabetes mellitus, insulin-dependent, susceptibility to | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | Hereditary spastic paraplegia 47 | |
| | | Deletion | not provided | |
| | | Duplication | RASopathy | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | Seizure +1 more | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | GPATCH2, GPATCH3 +2014 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |