| 150492694 | CV1275033 | single nucleotide variant | NM_001039569.2(AP1S3):c.3+8C>A | AP1S3-related disorder [RCV003956333]|not provided [RCV001702016] | likely benign | 2 | 223837440 | 223837440 | Human | 1 | name , trait , alternate_id |
| 405274581 | CV3208927 | deletion | NM_001039569.2(AP1S3):c.4-7del | AP1S3-related disorder [RCV003951707] | likely benign | 2 | 223777876 | 223777876 | Human | | name , trait , alternate_id |
| 405278745 | CV3216774 | single nucleotide variant | NM_001039569.2(AP1S3):c.3+9G>C | AP1S3-related disorder [RCV003954646] | likely benign | 2 | 223837439 | 223837439 | Human | | name , trait , alternate_id |
| 402477244 | CV2849477 | single nucleotide variant | NM_001039569.1(AP1S3):c.-138C>G | not specified [RCV003490334] | benign | 2 | 223837588 | 223837588 | Human | | name |
| 401907091 | CV2795727 | duplication | NM_001039569.2(AP1S3):c.429+78dup | not specified [RCV003397079] | benign | 2 | 223765134 | 223765135 | Human | | name |
| 401907200 | CV2795808 | single nucleotide variant | NM_001039569.2(AP1S3):c.183-137G>A | not specified [RCV003397160] | benign | 2 | 223776146 | 223776146 | Human | | name |
| 404987880 | CV2849504 | single nucleotide variant | NM_001039569.2(AP1S3):c.183-170A>G | not specified [RCV003490361] | benign | 2 | 223776179 | 223776179 | Human | | name |
| 401906970 | CV2795705 | single nucleotide variant | NM_001039569.2(AP1S3):c.291+2651T>C | not specified [RCV003397057] | benign | 2 | 223773250 | 223773250 | Human | | name |
| 596947657 | CV3547237 | single nucleotide variant | NM_001039569.2(AP1S3):c.292-4861C>T | not provided [RCV004811541] | likely benign | 2 | 223770211 | 223770211 | Human | | name |
| 401931216 | CV2795676 | microsatellite | NM_001039569.2(AP1S3):c.429+33ATG[9] | not specified [RCV003391238] | benign | 2 | 223765159 | 223765160 | Human | | name |
| 401906799 | CV2795718 | microsatellite | NM_001039569.2(AP1S3):c.429+33ATG[8] | not specified [RCV003397070] | benign | 2 | 223765159 | 223765160 | Human | | name |
| 404983117 | CV2849239 | duplication | NM_001039569.2(AP1S3):c.429+51_429+56dup | not specified [RCV003489111] | benign | 2 | 223765156 | 223765157 | Human | | name |
| 9684595 | CV170220 | single nucleotide variant | NM_001039569.2(AP1S3):c.11T>G (p.Phe4Cys) | AP1S3-related disorder [RCV003982906]|Psoriasis 15, pustular, susceptibility to [RCV000148043]|not provided [RCV002262755] | risk factor|benign|likely benign|not provided | 2 | 223777862 | 223777862 | Human | 1 | name , trait , alternate_id |
| 405266416 | CV3201985 | single nucleotide variant | NM_001039569.2(AP1S3):c.267G>A (p.Glu89=) | AP1S3-related disorder [RCV003911469] | likely benign | 2 | 223775925 | 223775925 | Human | | name , trait , alternate_id |
| 405278838 | CV3212702 | single nucleotide variant | NM_001039569.2(AP1S3):c.240G>A (p.Thr80=) | AP1S3-related disorder [RCV003954728] | likely benign | 2 | 223775952 | 223775952 | Human | | name , trait , alternate_id |
| 150410842 | CV1195924 | single nucleotide variant | NM_001039569.2(AP1S3):c.95C>T (p.Thr32Ile) | not provided [RCV001573338] | likely benign | 2 | 223777778 | 223777778 | Human | | name |
| 150547050 | CV1291849 | single nucleotide variant | NM_001039569.2(AP1S3):c.64A>G (p.Thr22Ala) | AP1S3-related disorder [RCV003931311]|Psoriasis 15, pustular, susceptibility to [RCV001733531]|not provided [RCV003438869] | likely benign | 2 | 223777809 | 223777809 | Human | 1 | name , trait , alternate_id |
| 9684844 | CV170219 | single nucleotide variant | NM_001039569.2(AP1S3):c.97C>T (p.Arg33Trp) | AP1S3-related disorder [RCV003927448]|Psoriasis 15, pustular, susceptibility to [RCV000148042]|not provided [RCV002262754]|not specified [RCV000454575] | risk factor|benign|likely benign|not provided | 2 | 223777776 | 223777776 | Human | 1 | name , trait , alternate_id |
| 401906909 | CV2795744 | insertion | NM_001039569.2(AP1S3):c.183-78_183-77insTT | not specified [RCV003397096] | benign | 2 | 223776086 | 223776087 | Human | | name |
| 404988650 | CV2849619 | single nucleotide variant | NM_001039569.2(AP1S3):c.28C>T (p.Arg10Ter) | not provided [RCV003490471] | uncertain significance | 2 | 223777845 | 223777845 | Human | | name |
| 8630200 | CV85347 | single nucleotide variant | NM_001039569.1(AP1S3):c.339C>T (p.Ile113=) | Malignant melanoma [RCV000065429] | not provided | 2 | 223765303 | 223765303 | Human | | name |
| 150547046 | CV1291848 | single nucleotide variant | NM_001039569.2(AP1S3):c.248T>C (p.Ile83Thr) | Psoriasis 15, pustular, susceptibility to [RCV001733530]|not provided [RCV004711711] | benign|likely benign | 2 | 223775944 | 223775944 | Human | 1 | name |
| 405295207 | CV3211165 | single nucleotide variant | NM_001039569.2(AP1S3):c.235T>G (p.Leu79Val) | AP1S3-related disorder [RCV003937151] | benign | 2 | 223775957 | 223775957 | Human | | name , trait , alternate_id |
| 405697689 | CV3279011 | single nucleotide variant | NM_001039569.2(AP1S3):c.190A>G (p.Ser64Gly) | not specified [RCV004424832] | uncertain significance | 2 | 223776002 | 223776002 | Human | | name |
| 597650169 | CV3558684 | single nucleotide variant | NM_001039569.2(AP1S3):c.216A>C (p.Glu72Asp) | not specified [RCV004826745] | uncertain significance | 2 | 223775976 | 223775976 | Human | | name |
| 597650261 | CV3558694 | single nucleotide variant | NM_001039569.2(AP1S3):c.256C>T (p.Arg86Cys) | not specified [RCV004826755] | uncertain significance | 2 | 223775936 | 223775936 | Human | | name |
| 156155626 | CV2393292 | single nucleotide variant | NM_001039569.2(AP1S3):c.337A>C (p.Ile113Leu) | not specified [RCV004228803] | uncertain significance | 2 | 223765305 | 223765305 | Human | | name |