| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | AP1G2, AP1G2-AS1 (Q490P +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | AP1G2, AP1G2-AS1 (D287H +2 more) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | AP1G2, AP1G2-AS1 +1 more (P44Q) | Single nucleotide variant (non-coding transcript variant +3 more) | not specified | |
| | AP1G2, AP1G2-AS1 (R227Q +2 more) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | AP1G2, AP1G2-AS1 (L180P +2 more) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | AP1G2, AP1G2-AS1 (T164I +2 more) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | AP1G2, AP1G2-AS1 (T229A +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | AP1G2, AP1G2-AS1 (L202F +2 more) | Single nucleotide variant (non-coding transcript variant +3 more) | not specified | |
| | AP1G2, AP1G2-AS1 (T200M +2 more) | Single nucleotide variant (non-coding transcript variant +3 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | not specified | |
| | AP1G2, THTPA (H384R +3 more) | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | AP1G2, AP1G2-AS1 (P280S +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | AP1G2, AP1G2-AS1 (Q622H +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | AP1G2, AP1G2-AS1 (R518Q +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | AP1G2, AP1G2-AS1 (L206V +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | AP1G2, AP1G2-AS1 (Y193H +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | AP1G2, AP1G2-AS1 (R572Q +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | AP1G2, AP1G2-AS1 (R443W +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | AP1G2, AP1G2-AS1 (V167M +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | AP1G2, AP1G2-AS1 (Q134H +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | AP1G2, AP1G2-AS1 (I115T +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | AP1G2, AP1G2-AS1 (R387H +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | AP1G2, AP1G2-AS1 (R329C +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | AP1G2, AP1G2-AS1 +1 more (D43N) | Single nucleotide variant (non-coding transcript variant +3 more) | not specified | |
| | AP1G2, AP1G2-AS1 (P13L +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | AP1G2, AP1G2-AS1 (A231T +2 more) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Copy number gain | not provided | |
| | AP1G2, AP1G2-AS1 (S134N +2 more) | Single nucleotide variant (non-coding transcript variant +3 more) | not specified | |
| | AP1G2, AP1G2-AS1 (P264L +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | AP1G2, AP1G2-AS1 (A336E +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | AP1G2, AP1G2-AS1 (R211S +2 more) | Single nucleotide variant (non-coding transcript variant +3 more) | not specified | |
| | AP1G2, AP1G2-AS1 (A49V +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | AP1G2, AP1G2-AS1 (N287T +2 more) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | AP1G2, AP1G2-AS1 (R363Q +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | AP1G2, AP1G2-AS1 (S151R +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | AP1G2, AP1G2-AS1 (T429M +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | AP1G2, AP1G2-AS1 (P392S +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | AP1G2, AP1G2-AS1 (I294V +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Duplication | Lysinuric protein intolerance +1 more | |
| | AP1G2, AP1G2-AS1 (R284P +2 more) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | AP1G2, AP1G2-AS1 (R225W +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | AP1G2, AP1G2-AS1 (D365N +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | AP1G2, AP1G2-AS1 (R229C +2 more) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | AP1G2, AP1G2-AS1 (R235W +2 more) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | AP1G2, THTPA (N620S +3 more) | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | AP1G2, AP1G2-AS1 (R251Q +2 more) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | AP1G2, AP1G2-AS1 (A181P +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | AP1G2, AP1G2-AS1 (S134R +2 more) | Single nucleotide variant (non-coding transcript variant +3 more) | not specified | |
| | AP1G2, AP1G2-AS1 (L373P +2 more) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | AP1G2, AP1G2-AS1 (R417H +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | AP1G2, THTPA (R355Q +3 more) | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | AP1G2, AP1G2-AS1 (T229I +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | AP1G2, AP1G2-AS1 (R252C +2 more) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | AP1G2, AP1G2-AS1 (H347Q +2 more) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | AP1G2, AP1G2-AS1 (V384L +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | AP1G2, AP1G2-AS1 (R8Q +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | not specified | |
| | AP1G2, AP1G2-AS1 (G122D +2 more) | Single nucleotide variant (non-coding transcript variant +3 more) | not specified | |
| | AP1G2, THTPA (N705H +3 more) | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | AP1G2, AP1G2-AS1 +1 more (Q50K) | Single nucleotide variant (non-coding transcript variant +3 more) | not specified | |
| | | Copy number gain | Seizure | |
| | | Deletion | Brain-lung-thyroid syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | Global developmental delay | |
| | | Copy number gain | not provided | |
| | AP1G2, AP1G2-AS1 (R26H +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Tracheoesophageal fistula | |
| | | Copy number gain | not provided | |
| | ARHGEF40, BCL2L2 +152 more | 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 | |
| | LOC125048431, LOC125048432 +3280 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC124958010, LOC124958011 +529 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130055392, LOC130055393 +780 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC112214170, LOC112214171 +840 more | Copy number loss | See cases | |