| 597648516 | CV3562365 | single nucleotide variant | NM_003917.5(AP1G2):c.26A>G (p.Gln9Arg) | not specified [RCV004826546] | uncertain significance | 14 | 23567289 | 23567289 | Human | | name |
| 597649224 | CV3562415 | single nucleotide variant | NM_003917.5(AP1G2):c.42G>C (p.Glu14Asp) | not specified [RCV004826590] | uncertain significance | 14 | 23567273 | 23567273 | Human | | name |
| 598273639 | CV3994058 | single nucleotide variant | NM_003917.5(AP1G2):c.35T>G (p.Ile12Ser) | not specified [RCV005389757] | uncertain significance | 14 | 23567280 | 23567280 | Human | | name |
| 150534716 | CV1311542 | single nucleotide variant | NM_003917.5(AP1G2):c.259T>C (p.Tyr87His) | Global developmental delay [RCV001779388] | uncertain significance | 14 | 23566632 | 23566632 | Human | 2 | name |
| 156252127 | CV2196677 | single nucleotide variant | NM_003917.5(AP1G2):c.148C>A (p.Gln50Lys) | not specified [RCV004073937] | uncertain significance | 14 | 23567167 | 23567167 | Human | | name |
| 155971601 | CV2214140 | single nucleotide variant | NM_003917.5(AP1G2):c.205A>G (p.Met69Val) | not specified [RCV004086142] | uncertain significance | 14 | 23566686 | 23566686 | Human | | name |
| 405697478 | CV3278973 | single nucleotide variant | NM_003917.5(AP1G2):c.127G>A (p.Asp43Asn) | not specified [RCV004424794] | uncertain significance | 14 | 23567188 | 23567188 | Human | | name |
| 405697567 | CV3278988 | single nucleotide variant | NM_003917.5(AP1G2):c.257G>A (p.Gly86Asp) | not specified [RCV004424809] | uncertain significance | 14 | 23566634 | 23566634 | Human | | name |
| 407509744 | CV3469092 | single nucleotide variant | NM_003917.5(AP1G2):c.131C>A (p.Pro44Gln) | not specified [RCV004647497] | uncertain significance | 14 | 23567184 | 23567184 | Human | | name |
| 156267788 | CV2198851 | single nucleotide variant | NM_003917.5(AP1G2):c.581G>A (p.Gly194Asp) | not specified [RCV004077886] | uncertain significance | 14 | 23565880 | 23565880 | Human | | name |
| 156153827 | CV2209474 | single nucleotide variant | NM_003917.5(AP1G2):c.410G>A (p.Arg137Gln) | not specified [RCV004093617] | uncertain significance | 14 | 23566339 | 23566339 | Human | | name |
| 155904279 | CV2275868 | single nucleotide variant | NM_003917.5(AP1G2):c.754C>T (p.Arg252Cys) | not specified [RCV004139528] | uncertain significance | 14 | 23565187 | 23565187 | Human | | name |
| 156301023 | CV2322651 | single nucleotide variant | NM_003917.5(AP1G2):c.686C>T (p.Thr229Ile) | not specified [RCV004182783] | uncertain significance | 14 | 23565661 | 23565661 | Human | | name |
| 155921513 | CV2340465 | single nucleotide variant | NM_003917.5(AP1G2):c.618C>G (p.Ser206Arg) | not specified [RCV004197192] | uncertain significance | 14 | 23565843 | 23565843 | Human | | name |
| 155980941 | CV2343672 | single nucleotide variant | NM_003917.5(AP1G2):c.541G>C (p.Ala181Pro) | not specified [RCV004190698] | uncertain significance | 14 | 23566091 | 23566091 | Human | | name |
| 156012463 | CV2358904 | single nucleotide variant | NM_003917.5(AP1G2):c.356T>C (p.Val119Ala) | not specified [RCV004212243] | uncertain significance | 14 | 23566393 | 23566393 | Human | | name |
| 156062913 | CV2380428 | single nucleotide variant | NM_003917.5(AP1G2):c.901C>T (p.Arg301Cys) | not specified [RCV004218031] | uncertain significance | 14 | 23564582 | 23564582 | Human | | name |
| 156344725 | CV2381901 | single nucleotide variant | NM_003917.5(AP1G2):c.374G>A (p.Cys125Tyr) | not specified [RCV004225842] | uncertain significance | 14 | 23566375 | 23566375 | Human | | name |
| 156001179 | CV2391867 | single nucleotide variant | NM_003917.5(AP1G2):c.673C>T (p.Arg225Trp) | not specified [RCV004235740] | uncertain significance | 14 | 23565674 | 23565674 | Human | | name |
| 329396640 | CV2459779 | single nucleotide variant | NM_003917.5(AP1G2):c.451A>C (p.Ser151Arg) | not specified [RCV004277193] | uncertain significance | 14 | 23566298 | 23566298 | Human | | name |
| 401741219 | CV2680356 | single nucleotide variant | NM_003917.5(AP1G2):c.860A>C (p.Asn287Thr) | not specified [RCV004288606] | uncertain significance | 14 | 23564623 | 23564623 | Human | | name |
| 401782425 | CV2719809 | single nucleotide variant | NM_003917.5(AP1G2):c.633G>T (p.Arg211Ser) | not specified [RCV004329230] | uncertain significance | 14 | 23565828 | 23565828 | Human | | name |
| 401878133 | CV2786878 | single nucleotide variant | NM_003917.5(AP1G2):c.617G>A (p.Ser206Asn) | not specified [RCV004366030] | uncertain significance | 14 | 23565844 | 23565844 | Human | | name |
| 405697574 | CV3278989 | single nucleotide variant | NM_003917.5(AP1G2):c.599C>T (p.Thr200Met) | not specified [RCV004424810] | uncertain significance | 14 | 23565862 | 23565862 | Human | | name |
| 405697580 | CV3278990 | single nucleotide variant | NM_003917.5(AP1G2):c.604C>T (p.Leu202Phe) | not specified [RCV004424811] | uncertain significance | 14 | 23565857 | 23565857 | Human | | name |
| 405697585 | CV3278991 | single nucleotide variant | NM_003917.5(AP1G2):c.685A>G (p.Thr229Ala) | not specified [RCV004424812] | uncertain significance | 14 | 23565662 | 23565662 | Human | | name |
| 405697591 | CV3278992 | single nucleotide variant | NM_003917.5(AP1G2):c.878C>T (p.Thr293Ile) | not specified [RCV004424813] | uncertain significance | 14 | 23564605 | 23564605 | Human | | name |
| 405697597 | CV3278993 | single nucleotide variant | NM_003917.5(AP1G2):c.926T>C (p.Leu309Pro) | not specified [RCV004424814] | uncertain significance | 14 | 23564384 | 23564384 | Human | | name |
| 597648602 | CV3562376 | single nucleotide variant | NM_003917.5(AP1G2):c.947G>A (p.Arg316His) | not specified [RCV004826557] | uncertain significance | 14 | 23564363 | 23564363 | Human | | name |
| 597648683 | CV3562387 | single nucleotide variant | NM_003917.5(AP1G2):c.650T>G (p.Val217Gly) | not specified [RCV004826568] | uncertain significance | 14 | 23565697 | 23565697 | Human | | name |
| 597649331 | CV3562397 | single nucleotide variant | NM_003917.5(AP1G2):c.776G>A (p.Arg259Gln) | not specified [RCV004826578] | uncertain significance | 14 | 23565165 | 23565165 | Human | | name |
| 597648797 | CV3562437 | single nucleotide variant | NM_003917.5(AP1G2):c.920G>A (p.Arg307Gln) | not specified [RCV004826608] | uncertain significance | 14 | 23564563 | 23564563 | Human | | name |
| 598273583 | CV3994016 | single nucleotide variant | NM_003917.5(AP1G2):c.463C>T (p.Arg155Cys) | not specified [RCV005389740] | uncertain significance | 14 | 23566286 | 23566286 | Human | | name |
| 598190174 | CV3994068 | single nucleotide variant | NM_003917.5(AP1G2):c.588C>G (p.Ile196Met) | not specified [RCV005374000] | uncertain significance | 14 | 23565873 | 23565873 | Human | | name |
| 598273662 | CV3994083 | single nucleotide variant | NM_003917.5(AP1G2):c.538T>C (p.Cys180Arg) | not specified [RCV005389764] | uncertain significance | 14 | 23566094 | 23566094 | Human | | name |
| 34889361 | CV904899 | single nucleotide variant | NM_003917.5(AP1G2):c.464G>A (p.Arg155His) | Esophageal atresia/tracheoesophageal fistula [RCV001172286] | likely pathogenic | 14 | 23566285 | 23566285 | Human | 1 | name |
| 156255352 | CV2194492 | single nucleotide variant | NM_003917.5(AP1G2):c.2329A>C (p.Asn777His) | not specified [RCV004081563] | uncertain significance | 14 | 23559778 | 23559778 | Human | | name |
| 156302600 | CV2241783 | single nucleotide variant | NM_003917.5(AP1G2):c.1537G>T (p.Val513Leu) | not specified [RCV004106718] | uncertain significance | 14 | 23562379 | 23562379 | Human | | name |
| 156077527 | CV2251552 | single nucleotide variant | NM_003917.5(AP1G2):c.1041T>G (p.His347Gln) | not specified [RCV004117508] | uncertain significance | 14 | 23564096 | 23564096 | Human | | name |
| 156076719 | CV2331828 | single nucleotide variant | NM_003917.5(AP1G2):c.2207G>A (p.Arg736Gln) | not specified [RCV004184443] | likely benign | 14 | 23559987 | 23559987 | Human | | name |
| 155973815 | CV2333239 | single nucleotide variant | NM_003917.5(AP1G2):c.1637G>A (p.Arg546His) | not specified [RCV004196571] | uncertain significance | 14 | 23562058 | 23562058 | Human | | name |
| 155921503 | CV2340464 | single nucleotide variant | NM_003917.5(AP1G2):c.1118T>C (p.Leu373Pro) | not specified [RCV004197191] | uncertain significance | 14 | 23563830 | 23563830 | Human | | name |
| 156200628 | CV2350871 | single nucleotide variant | NM_003917.5(AP1G2):c.1139G>A (p.Arg380Gln) | not specified [RCV004211708] | uncertain significance | 14 | 23563809 | 23563809 | Human | | name |
| 155924398 | CV2358143 | single nucleotide variant | NM_003917.5(AP1G2):c.2246A>G (p.Asn749Ser) | not specified [RCV004211948] | uncertain significance | 14 | 23559948 | 23559948 | Human | | name |
| 155938474 | CV2365034 | single nucleotide variant | NM_003917.5(AP1G2):c.1090C>T (p.Arg364Trp) | not specified [RCV004224193] | uncertain significance | 14 | 23564047 | 23564047 | Human | | name |
| 156267152 | CV2389270 | single nucleotide variant | NM_003917.5(AP1G2):c.1309G>A (p.Asp437Asn) | not specified [RCV004235587] | uncertain significance | 14 | 23563481 | 23563481 | Human | | name |
| 155970811 | CV2392353 | single nucleotide variant | NM_003917.5(AP1G2):c.1067G>C (p.Arg356Pro) | not specified [RCV004243947] | uncertain significance | 14 | 23564070 | 23564070 | Human | | name |
| 329374523 | CV2430928 | single nucleotide variant | NM_003917.5(AP1G2):c.1267A>G (p.Ile423Val) | not specified [RCV004248528] | uncertain significance | 14 | 23563604 | 23563604 | Human | | name |
| 329392622 | CV2439074 | single nucleotide variant | NM_003917.5(AP1G2):c.1286C>T (p.Thr429Met) | not specified [RCV004266365] | uncertain significance | 14 | 23563585 | 23563585 | Human | | name |
| 329365446 | CV2444876 | single nucleotide variant | NM_003917.5(AP1G2):c.2018T>G (p.Phe673Cys) | not specified [RCV004259112] | uncertain significance | 14 | 23560394 | 23560394 | Human | | name |
| 329354438 | CV2448180 | single nucleotide variant | NM_003917.5(AP1G2):c.1561C>T (p.Pro521Ser) | not specified [RCV004263391] | uncertain significance | 14 | 23562355 | 23562355 | Human | | name |
| 329387797 | CV2470991 | single nucleotide variant | NM_003917.5(AP1G2):c.2071C>A (p.Pro691Thr) | not specified [RCV004276171] | uncertain significance | 14 | 23560341 | 23560341 | Human | | name |
| 401766075 | CV2683519 | single nucleotide variant | NM_003917.5(AP1G2):c.1304G>A (p.Arg435Gln) | not specified [RCV004288267] | uncertain significance | 14 | 23563486 | 23563486 | Human | | name |
| 401734958 | CV2690727 | single nucleotide variant | NM_003917.5(AP1G2):c.1289C>T (p.Ala430Val) | not specified [RCV004298451] | uncertain significance | 14 | 23563501 | 23563501 | Human | | name |
| 401884459 | CV2758959 | single nucleotide variant | NM_003917.5(AP1G2):c.1394C>A (p.Ala465Glu) | not specified [RCV004342274] | uncertain significance | 14 | 23563396 | 23563396 | Human | | name |
| 401894746 | CV2785256 | single nucleotide variant | NM_003917.5(AP1G2):c.1934C>T (p.Pro645Leu) | not specified [RCV004357023] | uncertain significance | 14 | 23561355 | 23561355 | Human | | name |
| 405697465 | CV3278971 | single nucleotide variant | NM_003917.5(AP1G2):c.1078G>A (p.Ala360Thr) | not specified [RCV004424792] | uncertain significance | 14 | 23564059 | 23564059 | Human | | name |
| 405697470 | CV3278972 | single nucleotide variant | NM_003917.5(AP1G2):c.1181C>T (p.Pro394Leu) | not specified [RCV004424793] | uncertain significance | 14 | 23563767 | 23563767 | Human | | name |
| 405697489 | CV3278975 | single nucleotide variant | NM_003917.5(AP1G2):c.1372C>T (p.Arg458Cys) | not specified [RCV004424796] | uncertain significance | 14 | 23563418 | 23563418 | Human | | name |
| 405697495 | CV3278976 | single nucleotide variant | NM_003917.5(AP1G2):c.1376G>A (p.Arg459His) | not specified [RCV004424797] | uncertain significance | 14 | 23563414 | 23563414 | Human | | name |
| 405697501 | CV3278977 | single nucleotide variant | NM_003917.5(AP1G2):c.1487T>C (p.Ile496Thr) | not specified [RCV004424798] | likely benign | 14 | 23562517 | 23562517 | Human | | name |
| 405697508 | CV3278978 | single nucleotide variant | NM_003917.5(AP1G2):c.1545G>C (p.Gln515His) | not specified [RCV004424799] | uncertain significance | 14 | 23562371 | 23562371 | Human | | name |
| 405697515 | CV3278979 | single nucleotide variant | NM_003917.5(AP1G2):c.1642G>A (p.Val548Met) | not specified [RCV004424800] | uncertain significance | 14 | 23562053 | 23562053 | Human | | name |
| 405697520 | CV3278980 | single nucleotide variant | NM_003917.5(AP1G2):c.1714C>T (p.Arg572Trp) | not specified [RCV004424801] | uncertain significance | 14 | 23561981 | 23561981 | Human | | name |
| 405697528 | CV3278981 | single nucleotide variant | NM_003917.5(AP1G2):c.1715G>A (p.Arg572Gln) | not specified [RCV004424802] | uncertain significance | 14 | 23561980 | 23561980 | Human | | name |
| 405697532 | CV3278982 | single nucleotide variant | NM_003917.5(AP1G2):c.1720T>C (p.Tyr574His) | not specified [RCV004424803] | uncertain significance | 14 | 23561975 | 23561975 | Human | | name |
| 405697537 | CV3278983 | single nucleotide variant | NM_003917.5(AP1G2):c.1759C>G (p.Leu587Val) | not specified [RCV004424804] | uncertain significance | 14 | 23561610 | 23561610 | Human | | name |
| 405697544 | CV3278984 | single nucleotide variant | NM_003917.5(AP1G2):c.1769G>A (p.Arg590Gln) | not specified [RCV004424805] | uncertain significance | 14 | 23561600 | 23561600 | Human | | name |
| 405697550 | CV3278985 | single nucleotide variant | NM_003917.5(AP1G2):c.1866G>C (p.Gln622His) | not specified [RCV004424806] | uncertain significance | 14 | 23561423 | 23561423 | Human | | name |
| 405697558 | CV3278986 | single nucleotide variant | NM_003917.5(AP1G2):c.1981C>T (p.Pro661Ser) | not specified [RCV004424807] | uncertain significance | 14 | 23561308 | 23561308 | Human | | name |
| 405697562 | CV3278987 | single nucleotide variant | NM_003917.5(AP1G2):c.2294A>G (p.His765Arg) | not specified [RCV004424808] | uncertain significance | 14 | 23559813 | 23559813 | Human | | name |
| 407498060 | CV3469072 | single nucleotide variant | NM_003917.5(AP1G2):c.1067G>A (p.Arg356Gln) | not specified [RCV004643906] | likely benign | 14 | 23564070 | 23564070 | Human | | name |
| 407509785 | CV3469103 | single nucleotide variant | NM_003917.5(AP1G2):c.2114A>T (p.Glu705Val) | not specified [RCV004647507] | uncertain significance | 14 | 23560298 | 23560298 | Human | | name |
| 407498111 | CV3469114 | single nucleotide variant | NM_003917.5(AP1G2):c.1075G>C (p.Asp359His) | not specified [RCV004643918] | uncertain significance | 14 | 23564062 | 23564062 | Human | | name |
| 407509827 | CV3469125 | single nucleotide variant | NM_003917.5(AP1G2):c.1856A>C (p.Gln619Pro) | not specified [RCV004647519] | uncertain significance | 14 | 23561513 | 23561513 | Human | | name |
| 407509855 | CV3469135 | single nucleotide variant | NM_003917.5(AP1G2):c.2122G>A (p.Val708Ile) | not specified [RCV004647526] | uncertain significance | 14 | 23560290 | 23560290 | Human | | name |
| 597648318 | CV3562334 | single nucleotide variant | NM_003917.5(AP1G2):c.1324C>G (p.Leu442Val) | not specified [RCV004826516] | uncertain significance | 14 | 23563466 | 23563466 | Human | | name |
| 597648434 | CV3562355 | single nucleotide variant | NM_003917.5(AP1G2):c.1610G>A (p.Arg537His) | not specified [RCV004826536] | uncertain significance | 14 | 23562306 | 23562306 | Human | | name |
| 597649244 | CV3562407 | single nucleotide variant | NM_003917.5(AP1G2):c.1297C>T (p.His433Tyr) | not specified [RCV004826588] | likely benign | 14 | 23563493 | 23563493 | Human | | name |
| 597649164 | CV3562422 | single nucleotide variant | NM_003917.5(AP1G2):c.1088G>C (p.Ser363Thr) | not specified [RCV004826597] | uncertain significance | 14 | 23564049 | 23564049 | Human | | name |
| 597648762 | CV3562431 | single nucleotide variant | NM_003917.5(AP1G2):c.2239A>T (p.Ile747Phe) | not specified [RCV004826603] | uncertain significance | 14 | 23559955 | 23559955 | Human | | name |
| 597648842 | CV3562445 | single nucleotide variant | NM_003917.5(AP1G2):c.1661G>A (p.Ser554Asn) | not specified [RCV004826616] | uncertain significance | 14 | 23562034 | 23562034 | Human | | name |
| 598190022 | CV3994032 | single nucleotide variant | NM_003917.5(AP1G2):c.1946G>A (p.Gly649Asp) | not specified [RCV005373977] | uncertain significance | 14 | 23561343 | 23561343 | Human | | name |
| 598190065 | CV3994041 | single nucleotide variant | NM_003917.5(AP1G2):c.1723G>A (p.Asp575Asn) | not specified [RCV005373983] | uncertain significance | 14 | 23561972 | 23561972 | Human | | name |
| 598273628 | CV3994051 | single nucleotide variant | NM_003917.5(AP1G2):c.1811A>C (p.Glu604Ala) | not specified [RCV005389754] | likely benign | 14 | 23561558 | 23561558 | Human | | name |
| 598273633 | CV3994055 | single nucleotide variant | NM_003917.5(AP1G2):c.1042C>T (p.Arg348Trp) | not specified [RCV005389756] | uncertain significance | 14 | 23564095 | 23564095 | Human | | name |
| 598190225 | CV3994076 | single nucleotide variant | NM_003917.5(AP1G2):c.1544A>G (p.Gln515Arg) | not specified [RCV005374007] | uncertain significance | 14 | 23562372 | 23562372 | Human | | name |
| 598190232 | CV3994077 | single nucleotide variant | NM_003917.5(AP1G2):c.1660A>G (p.Ser554Gly) | not specified [RCV005374008] | uncertain significance | 14 | 23562035 | 23562035 | Human | | name |
| 598273659 | CV3994080 | single nucleotide variant | NM_003917.5(AP1G2):c.1643T>C (p.Val548Ala) | not specified [RCV005389763] | uncertain significance | 14 | 23562052 | 23562052 | Human | | name |
