| 401921725 | CV2824309 | single nucleotide variant | NM_001303512.2(PDZD4):c.42G>A (p.Gln14=) | not provided [RCV003432620] | likely benign | X | 153830257 | 153830257 | Human | | name |
| 401921721 | CV2824307 | single nucleotide variant | NM_001303512.2(PDZD4):c.363C>T (p.Gly121=) | not provided [RCV003432618] | likely benign | X | 153807321 | 153807321 | Human | | name |
| 155644279 | CV1708541 | deletion | NM_001303512.2(PDZD4):c.10_16del (p.Asn4fs) | Hyperactivity [RCV002291084] | uncertain significance | X | 153830283 | 153830289 | Human | 4 | name |
| 156118946 | CV2354000 | single nucleotide variant | NM_001303512.2(PDZD4):c.170G>A (p.Arg57Gln) | not specified [RCV004204433] | uncertain significance | X | 153808486 | 153808486 | Human | | name |
| 156054525 | CV2388615 | single nucleotide variant | NM_001303512.2(PDZD4):c.169C>T (p.Arg57Trp) | not specified [RCV004239497] | uncertain significance | X | 153808487 | 153808487 | Human | | name |
| 401921719 | CV2824305 | single nucleotide variant | NM_001303512.2(PDZD4):c.2214G>A (p.Arg738=) | not provided [RCV003432616] | likely benign | X | 153803467 | 153803467 | Human | | name |
| 401921720 | CV2824306 | single nucleotide variant | NM_001303512.2(PDZD4):c.1428C>T (p.Ala476=) | not provided [RCV003432617] | likely benign | X | 153804253 | 153804253 | Human | | name |
| 401921723 | CV2824308 | single nucleotide variant | NM_001303512.2(PDZD4):c.280A>G (p.Met94Val) | not provided [RCV003432619] | likely benign | X | 153808376 | 153808376 | Human | | name |
| 405789654 | CV3372144 | single nucleotide variant | NM_001303512.2(PDZD4):c.263G>A (p.Arg88His) | not specified [RCV004505563] | uncertain significance | X | 153808393 | 153808393 | Human | | name |
| 407463775 | CV3470520 | single nucleotide variant | NM_001303512.2(PDZD4):c.154C>T (p.Arg52Cys) | not specified [RCV004659778] | uncertain significance | X | 153808502 | 153808502 | Human | | name |
| 597721050 | CV3579287 | single nucleotide variant | NM_001303512.2(PDZD4):c.155G>A (p.Arg52His) | not specified [RCV004841918] | uncertain significance | X | 153808501 | 153808501 | Human | | name |
| 597721066 | CV3579288 | single nucleotide variant | NM_001303512.2(PDZD4):c.227T>C (p.Ile76Thr) | not specified [RCV004841919] | uncertain significance | X | 153808429 | 153808429 | Human | | name |
| 597721079 | CV3579289 | single nucleotide variant | NM_001303512.2(PDZD4):c.232T>C (p.Phe78Leu) | not specified [RCV004841920] | uncertain significance | X | 153808424 | 153808424 | Human | | name |
| 156255330 | CV2229283 | single nucleotide variant | NM_001303512.2(PDZD4):c.871G>A (p.Glu291Lys) | not specified [RCV004101083] | uncertain significance | X | 153804810 | 153804810 | Human | | name |
| 156297776 | CV2297715 | single nucleotide variant | NM_001303512.2(PDZD4):c.347C>A (p.Ala116Glu) | not specified [RCV004155394] | uncertain significance | X | 153807337 | 153807337 | Human | | name |
| 156192729 | CV2301912 | single nucleotide variant | NM_001303512.2(PDZD4):c.698G>A (p.Arg233Gln) | not specified [RCV004156695] | uncertain significance | X | 153805179 | 153805179 | Human | | name |
| 156171357 | CV2337507 | single nucleotide variant | NM_001303512.2(PDZD4):c.344C>T (p.Pro115Leu) | not specified [RCV004187940] | uncertain significance | X | 153807340 | 153807340 | Human | | name |
| 155924056 | CV2351990 | single nucleotide variant | NM_001303512.2(PDZD4):c.472G>A (p.Asp158Asn) | not specified [RCV004191091] | uncertain significance | X | 153806774 | 153806774 | Human | | name |
| 156342056 | CV2368501 | single nucleotide variant | NM_001303512.2(PDZD4):c.844C>G (p.Leu282Val) | not specified [RCV004221298] | uncertain significance | X | 153804837 | 153804837 | Human | | name |
| 329355509 | CV2445512 | single nucleotide variant | NM_001303512.2(PDZD4):c.382C>T (p.Arg128Cys) | not specified [RCV004257567] | uncertain significance | X | 153807302 | 153807302 | Human | | name |
| 329397861 | CV2464084 | single nucleotide variant | NM_001303512.2(PDZD4):c.694G>A (p.Asp232Asn) | not specified [RCV004273781] | uncertain significance | X | 153805183 | 153805183 | Human | | name |
| 401828915 | CV2747143 | single nucleotide variant | NM_001303512.2(PDZD4):c.923C>T (p.Pro308Leu) | Autism [RCV003328503] | uncertain significance | X | 153804758 | 153804758 | Human | 2 | name |
| 405789658 | CV3372145 | single nucleotide variant | NM_001303512.2(PDZD4):c.745C>T (p.Arg249Cys) | not specified [RCV004505564] | uncertain significance | X | 153805132 | 153805132 | Human | | name |
| 405789661 | CV3372146 | single nucleotide variant | NM_001303512.2(PDZD4):c.746G>A (p.Arg249His) | not specified [RCV004505565] | uncertain significance | X | 153805131 | 153805131 | Human | | name |
| 597721036 | CV3579286 | single nucleotide variant | NM_001303512.2(PDZD4):c.881G>A (p.Arg294Gln) | not specified [RCV004841917] | uncertain significance | X | 153804800 | 153804800 | Human | | name |
| 597721091 | CV3579290 | single nucleotide variant | NM_001303512.2(PDZD4):c.577G>A (p.Val193Ile) | not specified [RCV004841921] | uncertain significance | X | 153805597 | 153805597 | Human | | name |
| 598260875 | CV4002703 | single nucleotide variant | NM_001303512.2(PDZD4):c.562A>G (p.Ile188Val) | not specified [RCV005386781] | uncertain significance | X | 153806076 | 153806076 | Human | | name |
| 598260886 | CV4002705 | single nucleotide variant | NM_001303512.2(PDZD4):c.815C>T (p.Ala272Val) | not specified [RCV005386783] | uncertain significance | X | 153804866 | 153804866 | Human | | name |
| 155644280 | CV1708542 | single nucleotide variant | NM_001303512.2(PDZD4):c.2208G>C (p.Lys736Asn) | Autism [RCV002291085] | uncertain significance | X | 153803473 | 153803473 | Human | 2 | name |
| 156059520 | CV2239343 | single nucleotide variant | NM_001303512.2(PDZD4):c.2269G>A (p.Ala757Thr) | not specified [RCV004114081] | likely benign | X | 153803412 | 153803412 | Human | | name |
| 156310096 | CV2249724 | single nucleotide variant | NM_001303512.2(PDZD4):c.1651C>T (p.Arg551Cys) | not specified [RCV004122495] | uncertain significance | X | 153804030 | 153804030 | Human | | name |
| 156316045 | CV2250855 | single nucleotide variant | NM_001303512.2(PDZD4):c.1523T>G (p.Leu508Trp) | not specified [RCV004129711] | uncertain significance | X | 153804158 | 153804158 | Human | | name |
| 156157129 | CV2266266 | single nucleotide variant | NM_001303512.2(PDZD4):c.1126G>A (p.Gly376Ser) | not specified [RCV004128827] | uncertain significance | X | 153804555 | 153804555 | Human | | name |
| 155904510 | CV2275974 | single nucleotide variant | NM_001303512.2(PDZD4):c.1528C>T (p.Arg510Trp) | not specified [RCV004139615] | uncertain significance | X | 153804153 | 153804153 | Human | | name |
| 156242922 | CV2283228 | single nucleotide variant | NM_001303512.2(PDZD4):c.2038C>T (p.Arg680Cys) | not specified [RCV004145900] | uncertain significance | X | 153803643 | 153803643 | Human | | name |
| 156267912 | CV2371911 | single nucleotide variant | NM_001303512.2(PDZD4):c.1599C>G (p.Phe533Leu) | not specified [RCV004221598] | uncertain significance | X | 153804082 | 153804082 | Human | | name |
| 401734904 | CV2690708 | single nucleotide variant | NM_001303512.2(PDZD4):c.1924G>C (p.Val642Leu) | not specified [RCV004298437] | uncertain significance | X | 153803757 | 153803757 | Human | | name |
| 401756633 | CV2696379 | single nucleotide variant | NM_001303512.2(PDZD4):c.1354A>G (p.Ser452Gly) | not specified [RCV004312488] | likely benign | X | 153804327 | 153804327 | Human | | name |
| 401741865 | CV2706499 | single nucleotide variant | NM_001303512.2(PDZD4):c.1660C>G (p.Arg554Gly) | not specified [RCV004317313] | uncertain significance | X | 153804021 | 153804021 | Human | | name |
| 401783350 | CV2716311 | single nucleotide variant | NM_001303512.2(PDZD4):c.1657C>T (p.Arg553Cys) | not specified [RCV004325310] | uncertain significance | X | 153804024 | 153804024 | Human | | name |
| 401773463 | CV2716578 | single nucleotide variant | NM_001303512.2(PDZD4):c.1454G>A (p.Ser485Asn) | not specified [RCV004327653] | uncertain significance | X | 153804227 | 153804227 | Human | | name |
| 401777901 | CV2718382 | single nucleotide variant | NM_001303512.2(PDZD4):c.1091G>C (p.Arg364Pro) | not specified [RCV004318210] | uncertain significance | X | 153804590 | 153804590 | Human | | name |
| 401767831 | CV2727293 | single nucleotide variant | NM_001303512.2(PDZD4):c.1812C>G (p.His604Gln) | not specified [RCV004327406] | uncertain significance | X | 153803869 | 153803869 | Human | | name |
| 401755842 | CV2731135 | single nucleotide variant | NM_001303512.2(PDZD4):c.1349C>G (p.Ala450Gly) | not specified [RCV004332651] | likely benign | X | 153804332 | 153804332 | Human | | name |
| 405789631 | CV3372139 | single nucleotide variant | NM_001303512.2(PDZD4):c.1058C>T (p.Pro353Leu) | not specified [RCV004505558] | uncertain significance | X | 153804623 | 153804623 | Human | | name |
| 405789636 | CV3372140 | single nucleotide variant | NM_001303512.2(PDZD4):c.1324G>C (p.Glu442Gln) | not specified [RCV004505559] | uncertain significance | X | 153804357 | 153804357 | Human | | name |
| 405789641 | CV3372141 | single nucleotide variant | NM_001303512.2(PDZD4):c.1514A>G (p.Asn505Ser) | not specified [RCV004505560] | uncertain significance | X | 153804167 | 153804167 | Human | | name |
| 405789644 | CV3372142 | single nucleotide variant | NM_001303512.2(PDZD4):c.1559C>G (p.Pro520Arg) | not specified [RCV004505561] | uncertain significance | X | 153804122 | 153804122 | Human | | name |
| 405789649 | CV3372143 | single nucleotide variant | NM_001303512.2(PDZD4):c.1808G>A (p.Gly603Asp) | not specified [RCV004505562] | uncertain significance | X | 153803873 | 153803873 | Human | | name |
| 407528667 | CV3470519 | single nucleotide variant | NM_001303512.2(PDZD4):c.1559C>A (p.Pro520His) | not specified [RCV004655637] | likely benign | X | 153804122 | 153804122 | Human | | name |
| 597720985 | CV3579280 | single nucleotide variant | NM_001303512.2(PDZD4):c.1652G>A (p.Arg551His) | not specified [RCV004841912] | uncertain significance | X | 153804029 | 153804029 | Human | | name |
| 597720994 | CV3579282 | single nucleotide variant | NM_001303512.2(PDZD4):c.1756C>T (p.His586Tyr) | not specified [RCV004841913] | uncertain significance | X | 153803925 | 153803925 | Human | | name |
| 597721000 | CV3579283 | single nucleotide variant | NM_001303512.2(PDZD4):c.1190G>A (p.Arg397His) | not specified [RCV004841914] | uncertain significance | X | 153804491 | 153804491 | Human | | name |
| 597721010 | CV3579284 | single nucleotide variant | NM_001303512.2(PDZD4):c.1510G>A (p.Gly504Ser) | not specified [RCV004841915] | uncertain significance | X | 153804171 | 153804171 | Human | | name |
| 597721024 | CV3579285 | single nucleotide variant | NM_001303512.2(PDZD4):c.1556C>T (p.Thr519Ile) | not specified [RCV004841916] | uncertain significance | X | 153804125 | 153804125 | Human | | name |
| 597721105 | CV3579291 | single nucleotide variant | NM_001303512.2(PDZD4):c.2281G>T (p.Asp761Tyr) | not specified [RCV004841922] | uncertain significance | X | 153803400 | 153803400 | Human | | name |
| 597721118 | CV3579293 | single nucleotide variant | NM_001303512.2(PDZD4):c.1618C>T (p.Pro540Ser) | not specified [RCV004841923] | uncertain significance | X | 153804063 | 153804063 | Human | | name |
| 598260865 | CV4002700 | single nucleotide variant | NM_001303512.2(PDZD4):c.1219A>G (p.Met407Val) | not specified [RCV005386779] | uncertain significance | X | 153804462 | 153804462 | Human | | name |
| 598196502 | CV4002701 | single nucleotide variant | NM_001303512.2(PDZD4):c.1765A>G (p.Ser589Gly) | not specified [RCV005397724] | uncertain significance | X | 153803916 | 153803916 | Human | | name |
| 598260870 | CV4002702 | single nucleotide variant | NM_001303512.2(PDZD4):c.1727G>T (p.Arg576Leu) | not specified [RCV005386780] | uncertain significance | X | 153803954 | 153803954 | Human | | name |
| 598260881 | CV4002704 | single nucleotide variant | NM_001303512.2(PDZD4):c.1475C>T (p.Pro492Leu) | not specified [RCV005386782] | uncertain significance | X | 153804206 | 153804206 | Human | | name |