| 15197971 | CV775447 | single nucleotide variant | NM_002779.5(PSD):c.2398-9C>T | not provided [RCV000934670] | likely benign | 10 | 102405064 | 102405064 | Human | | name |
| 15166509 | CV778027 | single nucleotide variant | NM_002779.5(PSD):c.2701-5G>A | not provided [RCV000948852] | likely benign | 10 | 102403990 | 102403990 | Human | | name |
| 15202504 | CV767596 | single nucleotide variant | NM_002779.5(PSD):c.27C>T (p.Cys9=) | not provided [RCV000935968] | likely benign | 10 | 102417012 | 102417012 | Human | | name |
| 15134500 | CV751923 | single nucleotide variant | NM_002779.5(PSD):c.30G>A (p.Ser10=) | not provided [RCV000920697] | likely benign | 10 | 102417009 | 102417009 | Human | | name |
| 405661303 | CV3378268 | single nucleotide variant | NM_002779.5(PSD):c.19C>T (p.Arg7Cys) | not specified [RCV004513042] | uncertain significance | 10 | 102417020 | 102417020 | Human | | name |
| 407531474 | CV3471736 | single nucleotide variant | NM_002779.5(PSD):c.68G>A (p.Arg23His) | not specified [RCV004657630] | uncertain significance | 10 | 102416971 | 102416971 | Human | | name |
| 15186524 | CV701149 | single nucleotide variant | NM_002779.5(PSD):c.825G>A (p.Val275=) | not provided [RCV000953308] | likely benign | 10 | 102415162 | 102415162 | Human | | name |
| 15169702 | CV737309 | single nucleotide variant | NM_002779.5(PSD):c.480C>T (p.Pro160=) | not provided [RCV000905112] | benign | 10 | 102416559 | 102416559 | Human | | name |
| 15146766 | CV751922 | single nucleotide variant | NM_002779.5(PSD):c.465A>C (p.Thr155=) | not provided [RCV000922776] | likely benign | 10 | 102416574 | 102416574 | Human | | name |
| 15197590 | CV767595 | single nucleotide variant | NM_002779.5(PSD):c.774G>A (p.Glu258=) | not provided [RCV000934553] | likely benign | 10 | 102415213 | 102415213 | Human | | name |
| 156400737 | CV2217089 | single nucleotide variant | NM_002779.5(PSD):c.230G>A (p.Arg77His) | not specified [RCV004085766] | uncertain significance | 10 | 102416809 | 102416809 | Human | | name |
| 156193267 | CV2344221 | single nucleotide variant | NM_002779.5(PSD):c.152C>A (p.Ala51Glu) | not specified [RCV004197858] | uncertain significance | 10 | 102416887 | 102416887 | Human | | name |
| 329379355 | CV2456219 | single nucleotide variant | NM_002779.5(PSD):c.247T>G (p.Trp83Gly) | not specified [RCV004273403] | uncertain significance | 10 | 102416792 | 102416792 | Human | | name |
| 329382229 | CV2467564 | single nucleotide variant | NM_002779.5(PSD):c.148G>A (p.Val50Met) | not specified [RCV004287157] | uncertain significance | 10 | 102416891 | 102416891 | Human | | name |
| 405661312 | CV3378271 | single nucleotide variant | NM_002779.5(PSD):c.273G>T (p.Gln91His) | not specified [RCV004513045] | uncertain significance | 10 | 102416766 | 102416766 | Human | | name |
| 405661301 | CV3379582 | single nucleotide variant | NM_002779.5(PSD):c.1749C>T (p.Asn583=) | not specified [RCV004513041] | likely benign | 10 | 102412227 | 102412227 | Human | | name |
| 407531468 | CV3471732 | single nucleotide variant | NM_002779.5(PSD):c.262C>T (p.Pro88Ser) | not specified [RCV004657627] | uncertain significance | 10 | 102416777 | 102416777 | Human | | name |
| 407531472 | CV3471734 | single nucleotide variant | NM_002779.5(PSD):c.280C>G (p.Pro94Ala) | not specified [RCV004657629] | uncertain significance | 10 | 102416759 | 102416759 | Human | | name |
| 407490858 | CV3471735 | single nucleotide variant | NM_002779.5(PSD):c.251C>T (p.Ala84Val) | not specified [RCV004666723] | uncertain significance | 10 | 102416788 | 102416788 | Human | | name |
| 598162254 | CV3898007 | single nucleotide variant | NM_002779.5(PSD):c.215G>C (p.Gly72Ala) | not specified [RCV005261345] | uncertain significance | 10 | 102416824 | 102416824 | Human | | name |
| 15151685 | CV712130 | single nucleotide variant | NM_002779.5(PSD):c.1975C>T (p.Leu659=) | not provided [RCV000968193] | benign | 10 | 102411084 | 102411084 | Human | | name |
| 15146002 | CV751920 | single nucleotide variant | NM_002779.5(PSD):c.2040G>A (p.Gly680=) | not provided [RCV000922643] | likely benign | 10 | 102410909 | 102410909 | Human | | name |
| 15105412 | CV751921 | single nucleotide variant | NM_002779.5(PSD):c.1950C>T (p.Ala650=) | not provided [RCV000915540] | likely benign | 10 | 102411109 | 102411109 | Human | | name |
| 156174808 | CV2326969 | single nucleotide variant | NM_002779.5(PSD):c.785C>A (p.Pro262Gln) | not specified [RCV004176777] | uncertain significance | 10 | 102415202 | 102415202 | Human | | name |
| 329352374 | CV2452936 | single nucleotide variant | NM_002779.5(PSD):c.751A>C (p.Ser251Arg) | not specified [RCV004277569] | uncertain significance | 10 | 102416023 | 102416023 | Human | | name |
| 329387154 | CV2463379 | single nucleotide variant | NM_002779.5(PSD):c.898G>A (p.Asp300Asn) | not specified [RCV004277220] | uncertain significance | 10 | 102415089 | 102415089 | Human | | name |
| 401864975 | CV2757342 | single nucleotide variant | NM_002779.5(PSD):c.745C>G (p.Pro249Ala) | not specified [RCV004340748] | uncertain significance | 10 | 102416029 | 102416029 | Human | | name |
| 401892802 | CV2758073 | single nucleotide variant | NM_002779.5(PSD):c.581A>G (p.Asn194Ser) | not specified [RCV004339638] | uncertain significance | 10 | 102416458 | 102416458 | Human | | name |
| 401871537 | CV2783535 | single nucleotide variant | NM_002779.5(PSD):c.593G>C (p.Gly198Ala) | not specified [RCV004365865] | uncertain significance | 10 | 102416446 | 102416446 | Human | | name |
| 405661323 | CV3378275 | single nucleotide variant | NM_002779.5(PSD):c.311G>A (p.Arg104His) | not specified [RCV004513049] | uncertain significance | 10 | 102416728 | 102416728 | Human | | name |
| 405661325 | CV3378276 | single nucleotide variant | NM_002779.5(PSD):c.484A>G (p.Arg162Gly) | not specified [RCV004513050] | likely benign | 10 | 102416555 | 102416555 | Human | | name |
| 405661327 | CV3378277 | single nucleotide variant | NM_002779.5(PSD):c.845A>G (p.Lys282Arg) | not specified [RCV004513051] | uncertain significance | 10 | 102415142 | 102415142 | Human | | name |
| 407531460 | CV3471728 | single nucleotide variant | NM_002779.5(PSD):c.691C>T (p.His231Tyr) | not specified [RCV004657623] | uncertain significance | 10 | 102416083 | 102416083 | Human | | name |
| 597772760 | CV3581825 | single nucleotide variant | NM_002779.5(PSD):c.437A>G (p.Asn146Ser) | not specified [RCV004851591] | uncertain significance | 10 | 102416602 | 102416602 | Human | | name |
| 597772784 | CV3581830 | single nucleotide variant | NM_002779.5(PSD):c.814G>C (p.Gly272Arg) | not specified [RCV004851596] | uncertain significance | 10 | 102415173 | 102415173 | Human | | name |
| 597772791 | CV3581831 | single nucleotide variant | NM_002779.5(PSD):c.584G>T (p.Gly195Val) | not specified [RCV004851597] | uncertain significance | 10 | 102416455 | 102416455 | Human | | name |
| 597772796 | CV3581832 | single nucleotide variant | NM_002779.5(PSD):c.829G>A (p.Val277Met) | not specified [RCV004851598] | uncertain significance | 10 | 102415158 | 102415158 | Human | | name |
| 597772807 | CV3581834 | single nucleotide variant | NM_002779.5(PSD):c.373C>G (p.Arg125Gly) | not specified [RCV004851600] | uncertain significance | 10 | 102416666 | 102416666 | Human | | name |
| 597772813 | CV3581835 | single nucleotide variant | NM_002779.5(PSD):c.611C>T (p.Ala204Val) | not specified [RCV004851601] | uncertain significance | 10 | 102416428 | 102416428 | Human | | name |
| 597772830 | CV3581838 | single nucleotide variant | NM_002779.5(PSD):c.553G>C (p.Ala185Pro) | not specified [RCV004851604] | uncertain significance | 10 | 102416486 | 102416486 | Human | | name |
| 598162249 | CV3898006 | single nucleotide variant | NM_002779.5(PSD):c.444G>T (p.Lys148Asn) | not specified [RCV005261344] | uncertain significance | 10 | 102416595 | 102416595 | Human | | name |
| 598162273 | CV3898010 | single nucleotide variant | NM_002779.5(PSD):c.440G>A (p.Arg147Gln) | not specified [RCV005261348] | uncertain significance | 10 | 102416599 | 102416599 | Human | | name |
| 598162291 | CV3898013 | single nucleotide variant | NM_002779.5(PSD):c.956C>G (p.Pro319Arg) | not specified [RCV005261351] | uncertain significance | 10 | 102415031 | 102415031 | Human | | name |
| 598162307 | CV3898016 | single nucleotide variant | NM_002779.5(PSD):c.863T>G (p.Leu288Arg) | not specified [RCV005261354] | uncertain significance | 10 | 102415124 | 102415124 | Human | | name |
| 598162312 | CV3898017 | single nucleotide variant | NM_002779.5(PSD):c.350T>C (p.Leu117Pro) | not specified [RCV005261355] | uncertain significance | 10 | 102416689 | 102416689 | Human | | name |
| 155945687 | CV2238017 | single nucleotide variant | NM_002779.5(PSD):c.2713C>G (p.Arg905Gly) | not specified [RCV004111048] | uncertain significance | 10 | 102403973 | 102403973 | Human | | name |
| 155914975 | CV2242885 | single nucleotide variant | NM_002779.5(PSD):c.2665C>T (p.Pro889Ser) | not specified [RCV004107476] | uncertain significance | 10 | 102404618 | 102404618 | Human | | name |
| 156086939 | CV2258945 | single nucleotide variant | NM_002779.5(PSD):c.2201G>C (p.Arg734Pro) | not specified [RCV004120225] | uncertain significance | 10 | 102405471 | 102405471 | Human | | name |
| 156248607 | CV2263995 | single nucleotide variant | NM_002779.5(PSD):c.2285C>T (p.Ala762Val) | not specified [RCV004138020] | uncertain significance | 10 | 102405387 | 102405387 | Human | | name |
| 156005189 | CV2290299 | single nucleotide variant | NM_002779.5(PSD):c.2333G>A (p.Arg778Gln) | not specified [RCV004154734] | uncertain significance | 10 | 102405247 | 102405247 | Human | | name |
| 156088348 | CV2295503 | single nucleotide variant | NM_002779.5(PSD):c.2789G>A (p.Gly930Asp) | not specified [RCV004160610] | uncertain significance | 10 | 102403897 | 102403897 | Human | | name |
| 156042412 | CV2310970 | single nucleotide variant | NM_002779.5(PSD):c.2534G>A (p.Arg845Gln) | not specified [RCV004164001] | uncertain significance | 10 | 102404919 | 102404919 | Human | | name |
| 156046899 | CV2315639 | single nucleotide variant | NM_002779.5(PSD):c.1337C>T (p.Pro446Leu) | not specified [RCV004169672] | uncertain significance | 10 | 102413985 | 102413985 | Human | | name |
| 155981251 | CV2337021 | single nucleotide variant | NM_002779.5(PSD):c.1022C>T (p.Pro341Leu) | not specified [RCV004192789] | uncertain significance | 10 | 102414965 | 102414965 | Human | | name |
| 156337169 | CV2343018 | single nucleotide variant | NM_002779.5(PSD):c.1156G>T (p.Val386Leu) | not specified [RCV004192620] | uncertain significance | 10 | 102414166 | 102414166 | Human | | name |
| 156132441 | CV2350127 | single nucleotide variant | NM_002779.5(PSD):c.2950G>A (p.Glu984Lys) | not specified [RCV004200047] | uncertain significance | 10 | 102403325 | 102403325 | Human | | name |
| 155902925 | CV2356554 | single nucleotide variant | NM_002779.5(PSD):c.1136G>A (p.Arg379Gln) | not specified [RCV004199463] | uncertain significance | 10 | 102414186 | 102414186 | Human | | name |
| 156305168 | CV2369368 | single nucleotide variant | NM_002779.5(PSD):c.1369G>A (p.Ala457Thr) | not specified [RCV004208270] | uncertain significance | 10 | 102413953 | 102413953 | Human | | name |
| 156188819 | CV2375423 | single nucleotide variant | NM_002779.5(PSD):c.2305G>A (p.Ala769Thr) | not specified [RCV004232815] | uncertain significance | 10 | 102405367 | 102405367 | Human | | name |
| 155993143 | CV2381708 | single nucleotide variant | NM_002779.5(PSD):c.2770G>A (p.Ala924Thr) | not specified [RCV004232169] | uncertain significance | 10 | 102403916 | 102403916 | Human | | name |
| 156250808 | CV2394246 | single nucleotide variant | NM_002779.5(PSD):c.2251C>T (p.Pro751Ser) | not specified [RCV004238480] | uncertain significance | 10 | 102405421 | 102405421 | Human | | name |
| 156261300 | CV2395618 | single nucleotide variant | NM_002779.5(PSD):c.2713C>T (p.Arg905Trp) | not specified [RCV004241463] | uncertain significance | 10 | 102403973 | 102403973 | Human | | name |
| 401770080 | CV2710875 | single nucleotide variant | NM_002779.5(PSD):c.1723G>A (p.Asp575Asn) | not specified [RCV004308786] | uncertain significance | 10 | 102412406 | 102412406 | Human | | name |
| 401723947 | CV2725100 | single nucleotide variant | NM_002779.5(PSD):c.1612C>T (p.Arg538Trp) | not specified [RCV004319846] | uncertain significance | 10 | 102412517 | 102412517 | Human | | name |
| 401866699 | CV2758976 | single nucleotide variant | NM_002779.5(PSD):c.2941G>A (p.Gly981Arg) | not specified [RCV004342289] | uncertain significance | 10 | 102403334 | 102403334 | Human | | name |
| 405661305 | CV3378269 | single nucleotide variant | NM_002779.5(PSD):c.2234C>A (p.Pro745His) | not specified [RCV004513043] | uncertain significance | 10 | 102405438 | 102405438 | Human | | name |
| 405661309 | CV3378270 | single nucleotide variant | NM_002779.5(PSD):c.2680G>T (p.Ala894Ser) | not specified [RCV004513044] | uncertain significance | 10 | 102404603 | 102404603 | Human | | name |
| 405661314 | CV3378272 | single nucleotide variant | NM_002779.5(PSD):c.2872C>G (p.Leu958Val) | not specified [RCV004513046] | uncertain significance | 10 | 102403403 | 102403403 | Human | | name |
| 405661317 | CV3378273 | single nucleotide variant | NM_002779.5(PSD):c.2962C>T (p.Pro988Ser) | not specified [RCV004513047] | uncertain significance | 10 | 102403313 | 102403313 | Human | | name |
| 405661296 | CV3379580 | single nucleotide variant | NM_002779.5(PSD):c.1175C>T (p.Thr392Met) | not specified [RCV004513039] | uncertain significance | 10 | 102414147 | 102414147 | Human | | name |
| 405661298 | CV3379581 | single nucleotide variant | NM_002779.5(PSD):c.1360G>C (p.Asp454His) | not specified [RCV004513040] | uncertain significance | 10 | 102413962 | 102413962 | Human | | name |
| 407490855 | CV3471727 | single nucleotide variant | NM_002779.5(PSD):c.1135C>T (p.Arg379Trp) | not specified [RCV004666722] | uncertain significance | 10 | 102414187 | 102414187 | Human | | name |
| 407531466 | CV3471731 | single nucleotide variant | NM_002779.5(PSD):c.2131G>A (p.Ala711Thr) | not specified [RCV004657626] | uncertain significance | 10 | 102407227 | 102407227 | Human | | name |
| 407531470 | CV3471733 | single nucleotide variant | NM_002779.5(PSD):c.1092C>A (p.Asp364Glu) | not specified [RCV004657628] | uncertain significance | 10 | 102414895 | 102414895 | Human | | name |
| 407490862 | CV3471737 | single nucleotide variant | NM_002779.5(PSD):c.1036G>A (p.Gly346Ser) | not specified [RCV004666724] | uncertain significance | 10 | 102414951 | 102414951 | Human | | name |
| 597772754 | CV3581824 | single nucleotide variant | NM_002779.5(PSD):c.1901A>G (p.Gln634Arg) | not specified [RCV004851590] | uncertain significance | 10 | 102411748 | 102411748 | Human | | name |
| 597772765 | CV3581826 | single nucleotide variant | NM_002779.5(PSD):c.1390C>T (p.Leu464Phe) | not specified [RCV004851592] | uncertain significance | 10 | 102413932 | 102413932 | Human | | name |
| 597772770 | CV3581827 | single nucleotide variant | NM_002779.5(PSD):c.2756G>A (p.Arg919Gln) | not specified [RCV004851593] | uncertain significance | 10 | 102403930 | 102403930 | Human | | name |
| 597772775 | CV3581828 | single nucleotide variant | NM_002779.5(PSD):c.2915C>T (p.Ala972Val) | not specified [RCV004851594] | uncertain significance | 10 | 102403360 | 102403360 | Human | | name |
| 597772779 | CV3581829 | single nucleotide variant | NM_002779.5(PSD):c.1375G>A (p.Ala459Thr) | not specified [RCV004851595] | uncertain significance | 10 | 102413947 | 102413947 | Human | | name |
| 597772802 | CV3581833 | single nucleotide variant | NM_002779.5(PSD):c.1676A>G (p.Gln559Arg) | not specified [RCV004851599] | uncertain significance | 10 | 102412453 | 102412453 | Human | | name |
| 597772817 | CV3581836 | single nucleotide variant | NM_002779.5(PSD):c.2825A>G (p.Glu942Gly) | not specified [RCV004851602] | uncertain significance | 10 | 102403861 | 102403861 | Human | | name |
| 597772824 | CV3581837 | single nucleotide variant | NM_002779.5(PSD):c.1095C>A (p.Asp365Glu) | not specified [RCV004851603] | uncertain significance | 10 | 102414892 | 102414892 | Human | | name |
| 597772835 | CV3581839 | single nucleotide variant | NM_002779.5(PSD):c.1336C>A (p.Pro446Thr) | not specified [RCV004851605] | uncertain significance | 10 | 102413986 | 102413986 | Human | | name |
| 598162260 | CV3898008 | single nucleotide variant | NM_002779.5(PSD):c.2201G>A (p.Arg734Gln) | not specified [RCV005261346] | uncertain significance | 10 | 102405471 | 102405471 | Human | | name |
| 598162278 | CV3898011 | single nucleotide variant | NM_002779.5(PSD):c.1183T>A (p.Ser395Thr) | not specified [RCV005261349] | uncertain significance | 10 | 102414139 | 102414139 | Human | | name |
| 598162284 | CV3898012 | single nucleotide variant | NM_002779.5(PSD):c.1184C>G (p.Ser395Trp) | not specified [RCV005261350] | uncertain significance | 10 | 102414138 | 102414138 | Human | | name |
| 598162297 | CV3898014 | single nucleotide variant | NM_002779.5(PSD):c.1219G>A (p.Glu407Lys) | not specified [RCV005261352] | uncertain significance | 10 | 102414103 | 102414103 | Human | | name |
| 598162301 | CV3898015 | single nucleotide variant | NM_002779.5(PSD):c.2946C>A (p.Ser982Arg) | not specified [RCV005261353] | uncertain significance | 10 | 102403329 | 102403329 | Human | | name |
| 598162318 | CV3898018 | single nucleotide variant | NM_002779.5(PSD):c.2170T>A (p.Leu724Met) | not specified [RCV005261356] | uncertain significance | 10 | 102405502 | 102405502 | Human | | name |
| 15172156 | CV701147 | single nucleotide variant | NM_002779.5(PSD):c.2714G>A (p.Arg905Gln) | not provided [RCV000949966] | likely benign | 10 | 102403972 | 102403972 | Human | | name |
| 15190719 | CV701148 | single nucleotide variant | NM_002779.5(PSD):c.1006G>A (p.Gly336Ser) | not provided [RCV000954559] | benign | 10 | 102414981 | 102414981 | Human | | name |
| 8633468 | CV88683 | single nucleotide variant | NM_002779.4(PSD):c.2252C>T (p.Pro751Leu) | Malignant melanoma [RCV000068776] | not provided | 10 | 102405420 | 102405420 | Human | | name |
| 156396276 | CV2326190 | single nucleotide variant | NM_002779.5(PSD):c.3013C>G (p.Arg1005Gly) | not specified [RCV004180458] | uncertain significance | 10 | 102403262 | 102403262 | Human | | name |
| 156174258 | CV2334521 | single nucleotide variant | NM_002779.5(PSD):c.3013C>T (p.Arg1005Trp) | not specified [RCV004188482] | uncertain significance | 10 | 102403262 | 102403262 | Human | | name |
| 156113550 | CV2349132 | single nucleotide variant | NM_002779.5(PSD):c.3061C>T (p.Arg1021Trp) | not specified [RCV004205973] | uncertain significance | 10 | 102403214 | 102403214 | Human | | name |
| 401727105 | CV2684471 | single nucleotide variant | NM_002779.5(PSD):c.3014G>A (p.Arg1005Gln) | not specified [RCV004291544] | uncertain significance | 10 | 102403261 | 102403261 | Human | | name |
| 405661320 | CV3378274 | single nucleotide variant | NM_002779.5(PSD):c.3023G>C (p.Arg1008Pro) | not specified [RCV004513048] | uncertain significance | 10 | 102403252 | 102403252 | Human | | name |
| 407531458 | CV3471726 | single nucleotide variant | NM_002779.5(PSD):c.3059G>A (p.Gly1020Glu) | not specified [RCV004657622] | uncertain significance | 10 | 102403216 | 102403216 | Human | | name |
| 407531462 | CV3471729 | single nucleotide variant | NM_002779.5(PSD):c.3065G>A (p.Arg1022Gln) | not specified [RCV004657624] | uncertain significance | 10 | 102403210 | 102403210 | Human | | name |
| 598162266 | CV3898009 | single nucleotide variant | NM_002779.5(PSD):c.3009G>T (p.Gln1003His) | not specified [RCV005261347] | uncertain significance | 10 | 102403266 | 102403266 | Human | | name |
| 15117573 | CV737308 | single nucleotide variant | NM_002779.5(PSD):c.3041G>A (p.Arg1014Gln) | not provided [RCV000895401] | benign | 10 | 102403234 | 102403234 | Human | | name |
| 8650196 | CV126770 | single nucleotide variant | NM_015310.3(PSD3):c.2217-393A>G | Lung cancer [RCV000107257] | uncertain significance | 8 | 18633199 | 18633199 | Human | | name |
| 401925969 | CV2796605 | single nucleotide variant | NM_015310.4(PSD3):c.1241T>A (p.Ile414Asn) | PSD3-related disorder [RCV003405814] | uncertain significance | 8 | 18868067 | 18868067 | Human | | name , trait , alternate_id |
| 401931237 | CV2800632 | single nucleotide variant | NM_015310.4(PSD3):c.2387A>G (p.His796Arg) | PSD3-related disorder [RCV003391264] | uncertain significance | 8 | 18632636 | 18632636 | Human | | name , trait , alternate_id |
| 405294525 | CV3208919 | single nucleotide variant | NM_015310.4(PSD3):c.1565C>T (p.Thr522Ile) | PSD3-related disorder [RCV003934470] | likely benign | 8 | 18867743 | 18867743 | Human | | name , trait , alternate_id |
| 15189247 | CV700510 | single nucleotide variant | NM_015310.4(PSD3):c.1024C>T (p.Arg342Cys) | PSD3-related disorder [RCV003935827]|not provided [RCV000954118] | likely benign | 8 | 18871840 | 18871840 | Human | | name , trait , alternate_id |
| 15182410 | CV722979 | single nucleotide variant | NM_015310.4(PSD3):c.338A>T (p.Asp113Val) | PSD3-related disorder [RCV003940539]|not provided [RCV000885986] | likely benign | 8 | 18872526 | 18872526 | Human | | name , trait , alternate_id |
| 15156238 | CV721247 | single nucleotide variant | NM_032289.4(PSD2):c.60C>T (p.Pro20=) | not provided [RCV000880586] | benign | 5 | 139809500 | 139809500 | Human | | name |
| 597772872 | CV3581847 | single nucleotide variant | NM_032289.4(PSD2):c.13A>C (p.Lys5Gln) | not specified [RCV004851613] | uncertain significance | 5 | 139809453 | 139809453 | Human | | name |
| 155962177 | CV2200896 | single nucleotide variant | NM_012455.3(PSD4):c.29A>G (p.His10Arg) | not specified [RCV004081515] | uncertain significance | 2 | 113182485 | 113182485 | Human | | name |
| 156401665 | CV2217493 | single nucleotide variant | NM_032289.4(PSD2):c.52C>T (p.Arg18Cys) | not specified [RCV004090039] | uncertain significance | 5 | 139809492 | 139809492 | Human | | name |
| 156236044 | CV2268081 | single nucleotide variant | NM_032289.4(PSD2):c.91C>T (p.Arg31Trp) | not specified [RCV004138411] | uncertain significance | 5 | 139809531 | 139809531 | Human | | name |
| 156245233 | CV2313332 | single nucleotide variant | NM_012455.3(PSD4):c.70A>G (p.Ser24Gly) | not specified [RCV004163362] | uncertain significance | 2 | 113182526 | 113182526 | Human | | name |
| 405661413 | CV3378307 | single nucleotide variant | NM_012455.3(PSD4):c.32C>A (p.Pro11His) | not specified [RCV004513081] | uncertain significance | 2 | 113182488 | 113182488 | Human | | name |
| 597772846 | CV3581841 | single nucleotide variant | NM_032289.4(PSD2):c.53G>A (p.Arg18His) | not specified [RCV004851607] | likely benign | 5 | 139809493 | 139809493 | Human | | name |
| 597772867 | CV3581846 | single nucleotide variant | NM_032289.4(PSD2):c.64C>T (p.Pro22Ser) | not specified [RCV004851612] | uncertain significance | 5 | 139809504 | 139809504 | Human | | name |
| 597772984 | CV3581871 | single nucleotide variant | NM_012455.3(PSD4):c.42G>T (p.Met14Ile) | not specified [RCV004851635] | uncertain significance | 2 | 113182498 | 113182498 | Human | | name |
| 15114314 | CV709658 | single nucleotide variant | NM_032289.4(PSD2):c.86G>A (p.Gly29Glu) | not provided [RCV000961652] | benign | 5 | 139809526 | 139809526 | Human | | name |
| 15114319 | CV709659 | single nucleotide variant | NM_032289.4(PSD2):c.92G>A (p.Arg31Gln) | not provided [RCV000961653] | benign | 5 | 139809532 | 139809532 | Human | | name |
| 15155242 | CV711435 | single nucleotide variant | NM_015310.4(PSD3):c.441C>T (p.Ser147=) | not provided [RCV000968888] | benign | 8 | 18872423 | 18872423 | Human | | name |
| 15105119 | CV722980 | single nucleotide variant | NM_015310.4(PSD3):c.312C>T (p.Leu104=) | not provided [RCV000893019] | likely benign | 8 | 18872552 | 18872552 | Human | | name |
| 15166708 | CV751054 | single nucleotide variant | NM_015310.4(PSD3):c.948C>T (p.Thr316=) | not provided [RCV000926930] | likely benign | 8 | 18871916 | 18871916 | Human | | name |
| 8629800 | CV84947 | single nucleotide variant | NM_012455.2(PSD4):c.918G>A (p.Leu306=) | Malignant melanoma [RCV000065029] | not provided | 2 | 113183374 | 113183374 | Human | | name |
| 155921461 | CV2208448 | single nucleotide variant | NM_032289.4(PSD2):c.281C>T (p.Ala94Val) | not specified [RCV004090987] | uncertain significance | 5 | 139809721 | 139809721 | Human | | name |
| 156209136 | CV2370071 | single nucleotide variant | NM_032289.4(PSD2):c.256G>A (p.Asp86Asn) | not specified [RCV004210966] | uncertain significance | 5 | 139809696 | 139809696 | Human | | name |
| 155961368 | CV2388024 | single nucleotide variant | NM_012455.3(PSD4):c.220C>T (p.His74Tyr) | not specified [RCV004241155] | uncertain significance | 2 | 113182676 | 113182676 | Human | | name |
| 401864263 | CV2760869 | single nucleotide variant | NM_012455.3(PSD4):c.182A>T (p.Gln61Leu) | not specified [RCV004336504] | uncertain significance | 2 | 113182638 | 113182638 | Human | | name |
| 401925701 | CV2820941 | single nucleotide variant | NM_015310.4(PSD3):c.1173A>G (p.Glu391=) | not provided [RCV003436782] | likely benign | 8 | 18871691 | 18871691 | Human | | name |
| 405661330 | CV3378278 | single nucleotide variant | NM_032289.4(PSD2):c.149G>A (p.Arg50Gln) | not specified [RCV004513052] | uncertain significance | 5 | 139809589 | 139809589 | Human | | name |
| 405661362 | CV3378290 | single nucleotide variant | NM_015310.4(PSD3):c.196A>G (p.Met66Val) | not specified [RCV004513064] | uncertain significance | 8 | 18872668 | 18872668 | Human | | name |
| 405661389 | CV3378299 | single nucleotide variant | NM_012455.3(PSD4):c.203C>A (p.Ser68Tyr) | not specified [RCV004513073] | uncertain significance | 2 | 113182659 | 113182659 | Human | | name |
| 597772882 | CV3581849 | single nucleotide variant | NM_032289.4(PSD2):c.215G>C (p.Ser72Thr) | not specified [RCV004851615] | uncertain significance | 5 | 139809655 | 139809655 | Human | | name |
| 597772980 | CV3581870 | single nucleotide variant | NM_012455.3(PSD4):c.222C>A (p.His74Gln) | not specified [RCV004851634] | uncertain significance | 2 | 113182678 | 113182678 | Human | | name |
| 597772994 | CV3581873 | single nucleotide variant | NM_012455.3(PSD4):c.179G>A (p.Arg60Lys) | not specified [RCV004851637] | uncertain significance | 2 | 113182635 | 113182635 | Human | | name |
| 15197794 | CV700507 | single nucleotide variant | NM_015310.4(PSD3):c.1644G>A (p.Gly548=) | not provided [RCV000956565] | benign | 8 | 18804889 | 18804889 | Human | | name |
| 15102994 | CV722977 | single nucleotide variant | NM_015310.4(PSD3):c.2862C>T (p.Pro954=) | not provided [RCV000892586] | benign | 8 | 18556275 | 18556275 | Human | | name |
| 8629798 | CV84945 | single nucleotide variant | NM_012455.2(PSD4):c.248G>A (p.Gly83Glu) | Malignant melanoma [RCV000065027] | not provided | 2 | 113182704 | 113182704 | Human | | name |
| 8629804 | CV84951 | single nucleotide variant | NM_012455.2(PSD4):c.2016G>A (p.Gly672=) | Malignant melanoma [RCV000065033] | not provided | 2 | 113193354 | 113193354 | Human | | name |
| 156269885 | CV2195119 | single nucleotide variant | NM_032289.4(PSD2):c.689G>A (p.Arg230His) | not specified [RCV004078025] | uncertain significance | 5 | 139813626 | 139813626 | Human | | name |
| 156400234 | CV2199053 | single nucleotide variant | NM_032289.4(PSD2):c.650A>G (p.Glu217Gly) | not specified [RCV004080454] | uncertain significance | 5 | 139813587 | 139813587 | Human | | name |
| 156238555 | CV2217055 | single nucleotide variant | NM_015310.4(PSD3):c.532C>T (p.Arg178Cys) | not specified [RCV004085738] | uncertain significance | 8 | 18872332 | 18872332 | Human | | name |
| 156379730 | CV2217957 | single nucleotide variant | NM_012455.3(PSD4):c.415C>T (p.His139Tyr) | not specified [RCV004086410] | uncertain significance | 2 | 113182871 | 113182871 | Human | | name |
| 156291563 | CV2226340 | single nucleotide variant | NM_015310.4(PSD3):c.496G>T (p.Val166Phe) | not specified [RCV004099572] | uncertain significance | 8 | 18872368 | 18872368 | Human | | name |
| 156306724 | CV2252768 | single nucleotide variant | NM_032289.4(PSD2):c.917G>T (p.Gly306Val) | not specified [RCV004118611] | uncertain significance | 5 | 139814265 | 139814265 | Human | | name |
| 156177480 | CV2258173 | single nucleotide variant | NM_032289.4(PSD2):c.844C>A (p.Leu282Met) | not specified [RCV004121558] | uncertain significance | 5 | 139814192 | 139814192 | Human | | name |
| 155971314 | CV2262324 | single nucleotide variant | NM_012455.3(PSD4):c.655G>C (p.Glu219Gln) | not specified [RCV004128519] | uncertain significance | 2 | 113183111 | 113183111 | Human | | name |
| 156346730 | CV2300679 | single nucleotide variant | NM_012455.3(PSD4):c.614C>T (p.Pro205Leu) | not specified [RCV004155621] | uncertain significance | 2 | 113183070 | 113183070 | Human | | name |
| 155908739 | CV2307136 | single nucleotide variant | NM_032289.4(PSD2):c.847T>C (p.Ser283Pro) | not specified [RCV004159616] | uncertain significance | 5 | 139814195 | 139814195 | Human | | name |
| 156325217 | CV2335196 | single nucleotide variant | NM_032289.4(PSD2):c.500C>T (p.Thr167Met) | not specified [RCV004186769] | uncertain significance | 5 | 139813437 | 139813437 | Human | | name |
| 156331340 | CV2339621 | single nucleotide variant | NM_032289.4(PSD2):c.801C>G (p.Asp267Glu) | not specified [RCV004196330] | uncertain significance | 5 | 139813738 | 139813738 | Human | | name |
| 156192862 | CV2350448 | single nucleotide variant | NM_032289.4(PSD2):c.793G>A (p.Asp265Asn) | not specified [RCV004204821] | uncertain significance | 5 | 139813730 | 139813730 | Human | | name |
| 156275039 | CV2351784 | single nucleotide variant | NM_032289.4(PSD2):c.973G>A (p.Glu325Lys) | not specified [RCV004197940] | uncertain significance | 5 | 139814321 | 139814321 | Human | | name |
| 156131364 | CV2358251 | single nucleotide variant | NM_032289.4(PSD2):c.559C>T (p.Arg187Trp) | not specified [RCV004212040] | uncertain significance | 5 | 139813496 | 139813496 | Human | | name |
| 156162818 | CV2368297 | single nucleotide variant | NM_032289.4(PSD2):c.905C>T (p.Pro302Leu) | not specified [RCV004219080] | uncertain significance | 5 | 139814253 | 139814253 | Human | | name |
| 156055550 | CV2370872 | single nucleotide variant | NM_032289.4(PSD2):c.721A>G (p.Met241Val) | not specified [RCV004218613] | uncertain significance | 5 | 139813658 | 139813658 | Human | | name |
| 156064404 | CV2375975 | single nucleotide variant | NM_015310.4(PSD3):c.635G>T (p.Ser212Ile) | not specified [RCV004218180] | uncertain significance | 8 | 18872229 | 18872229 | Human | | name |
| 156259934 | CV2381057 | single nucleotide variant | NM_012455.3(PSD4):c.443G>A (p.Arg148Gln) | not specified [RCV004225094] | likely benign | 2 | 113182899 | 113182899 | Human | | name |
| 156145051 | CV2393751 | single nucleotide variant | NM_012455.3(PSD4):c.526A>G (p.Lys176Glu) | not specified [RCV004233591] | uncertain significance | 2 | 113182982 | 113182982 | Human | | name |
| 329396943 | CV2463680 | single nucleotide variant | NM_032289.4(PSD2):c.969C>G (p.His323Gln) | not specified [RCV004279255] | uncertain significance | 5 | 139814317 | 139814317 | Human | | name |
| 401731178 | CV2674286 | single nucleotide variant | NM_032289.4(PSD2):c.818C>G (p.Ala273Gly) | not specified [RCV004289165] | uncertain significance | 5 | 139813755 | 139813755 | Human | | name |
| 401741315 | CV2690461 | single nucleotide variant | NM_012455.3(PSD4):c.854C>T (p.Ala285Val) | not specified [RCV004304231] | uncertain significance | 2 | 113183310 | 113183310 | Human | | name |
| 401731070 | CV2697541 | single nucleotide variant | NM_012455.3(PSD4):c.442C>T (p.Arg148Trp) | not specified [RCV004297927] | uncertain significance | 2 | 113182898 | 113182898 | Human | | name |
| 401763776 | CV2717118 | single nucleotide variant | NM_012455.3(PSD4):c.874C>T (p.Pro292Ser) | not specified [RCV004324001] | uncertain significance | 2 | 113183330 | 113183330 | Human | | name |
| 401746870 | CV2732011 | single nucleotide variant | NM_032289.4(PSD2):c.332C>T (p.Ser111Phe) | not specified [RCV004333246] | uncertain significance | 5 | 139809772 | 139809772 | Human | | name |
| 401886000 | CV2771003 | single nucleotide variant | NM_012455.3(PSD4):c.569C>T (p.Thr190Met) | not specified [RCV004344019] | uncertain significance | 2 | 113183025 | 113183025 | Human | | name |
| 401897842 | CV2772984 | single nucleotide variant | NM_012455.3(PSD4):c.514G>A (p.Glu172Lys) | not specified [RCV004351440] | uncertain significance | 2 | 113182970 | 113182970 | Human | | name |
| 401892424 | CV2781924 | single nucleotide variant | NM_032289.4(PSD2):c.531G>T (p.Glu177Asp) | not specified [RCV004357165] | uncertain significance | 5 | 139813468 | 139813468 | Human | | name |
| 405661343 | CV3378283 | single nucleotide variant | NM_032289.4(PSD2):c.385G>A (p.Gly129Arg) | not specified [RCV004513057] | uncertain significance | 5 | 139813322 | 139813322 | Human | | name |
| 405661346 | CV3378284 | single nucleotide variant | NM_032289.4(PSD2):c.401G>A (p.Arg134Gln) | not specified [RCV004513058] | uncertain significance | 5 | 139813338 | 139813338 | Human | | name |
| 405661349 | CV3378285 | single nucleotide variant | NM_032289.4(PSD2):c.607A>T (p.Met203Leu) | not specified [RCV004513059] | uncertain significance | 5 | 139813544 | 139813544 | Human | | name |
| 405661355 | CV3378287 | single nucleotide variant | NM_032289.4(PSD2):c.767G>C (p.Gly256Ala) | not specified [RCV004513061] | uncertain significance | 5 | 139813704 | 139813704 | Human | | name |
| 405661356 | CV3378288 | single nucleotide variant | NM_032289.4(PSD2):c.860C>G (p.Ser287Cys) | not specified [RCV004513062] | uncertain significance | 5 | 139814208 | 139814208 | Human | | name |
| 405661384 | CV3378297 | single nucleotide variant | NM_015310.4(PSD3):c.781C>T (p.His261Tyr) | not specified [RCV004513071] | uncertain significance | 8 | 18872083 | 18872083 | Human | | name |
| 405661414 | CV3378308 | single nucleotide variant | NM_012455.3(PSD4):c.530C>T (p.Thr177Met) | not specified [RCV004513082] | uncertain significance | 2 | 113182986 | 113182986 | Human | | name |
| 405661417 | CV3378309 | single nucleotide variant | NM_012455.3(PSD4):c.535G>A (p.Gly179Arg) | not specified [RCV004513083] | uncertain significance | 2 | 113182991 | 113182991 | Human | | name |
| 405661420 | CV3378310 | single nucleotide variant | NM_012455.3(PSD4):c.608C>A (p.Ser203Tyr) | not specified [RCV004513084] | uncertain significance | 2 | 113183064 | 113183064 | Human | | name |
| 405661423 | CV3378311 | single nucleotide variant | NM_012455.3(PSD4):c.703C>T (p.Pro235Ser) | not specified [RCV004513085] | uncertain significance | 2 | 113183159 | 113183159 | Human | | name |
| 405661425 | CV3378312 | single nucleotide variant | NM_012455.3(PSD4):c.757G>A (p.Ala253Thr) | not specified [RCV004513086] | uncertain significance | 2 | 113183213 | 113183213 | Human | | name |
| 405661427 | CV3378313 | single nucleotide variant | NM_012455.3(PSD4):c.808G>A (p.Ala270Thr) | not specified [RCV004513087] | uncertain significance | 2 | 113183264 | 113183264 | Human | | name |
| 405661433 | CV3378315 | single nucleotide variant | NM_012455.3(PSD4):c.860T>C (p.Leu287Pro) | not specified [RCV004513089] | uncertain significance | 2 | 113183316 | 113183316 | Human | | name |
| 407531476 | CV3471738 | single nucleotide variant | NM_032289.4(PSD2):c.383C>T (p.Pro128Leu) | not specified [RCV004657631] | uncertain significance | 5 | 139813320 | 139813320 | Human | | name |
| 407490868 | CV3471740 | single nucleotide variant | NM_032289.4(PSD2):c.451C>T (p.Arg151Trp) | not specified [RCV004666726] | uncertain significance | 5 | 139813388 | 139813388 | Human | | name |
| 407490877 | CV3471745 | single nucleotide variant | NM_032289.4(PSD2):c.328G>T (p.Ala110Ser) | not specified [RCV004666729] | uncertain significance | 5 | 139809768 | 139809768 | Human | | name |
| 407531486 | CV3471748 | single nucleotide variant | NM_032289.4(PSD2):c.455G>A (p.Gly152Asp) | not specified [RCV004657636] | uncertain significance | 5 | 139813392 | 139813392 | Human | | name |
| 407531488 | CV3471749 | single nucleotide variant | NM_032289.4(PSD2):c.361C>G (p.Pro121Ala) | not specified [RCV004657637] | uncertain significance | 5 | 139809801 | 139809801 | Human | | name |
| 407531509 | CV3471761 | single nucleotide variant | NM_012455.3(PSD4):c.388G>A (p.Ala130Thr) | not specified [RCV004657647] | uncertain significance | 2 | 113182844 | 113182844 | Human | | name |
| 597772838 | CV3581840 | single nucleotide variant | NM_032289.4(PSD2):c.812A>C (p.Asn271Thr) | not specified [RCV004851606] | uncertain significance | 5 | 139813749 | 139813749 | Human | | name |
| 597772853 | CV3581843 | single nucleotide variant | NM_032289.4(PSD2):c.875C>T (p.Ser292Leu) | not specified [RCV004851609] | uncertain significance | 5 | 139814223 | 139814223 | Human | | name |
| 597772967 | CV3581868 | single nucleotide variant | NM_012455.3(PSD4):c.422C>T (p.Pro141Leu) | not specified [RCV004851632] | likely benign | 2 | 113182878 | 113182878 | Human | | name |
| 597772974 | CV3581869 | single nucleotide variant | NM_012455.3(PSD4):c.841C>T (p.Pro281Ser) | not specified [RCV004851633] | uncertain significance | 2 | 113183297 | 113183297 | Human | | name |
| 597772989 | CV3581872 | single nucleotide variant | NM_012455.3(PSD4):c.430C>G (p.Pro144Ala) | not specified [RCV004851636] | uncertain significance | 2 | 113182886 | 113182886 | Human | | name |
| 598162323 | CV3898019 | single nucleotide variant | NM_032289.4(PSD2):c.307G>A (p.Val103Met) | not specified [RCV005261357] | uncertain significance | 5 | 139809747 | 139809747 | Human | | name |
| 598162333 | CV3898021 | single nucleotide variant | NM_032289.4(PSD2):c.668G>A (p.Arg223Gln) | not specified [RCV005261359] | uncertain significance | 5 | 139813605 | 139813605 | Human | | name |
| 598162425 | CV3898037 | single nucleotide variant | NM_012455.3(PSD4):c.928G>A (p.Ala310Thr) | not specified [RCV005261375] | uncertain significance | 2 | 113183384 | 113183384 | Human | | name |
| 598162443 | CV3898040 | single nucleotide variant | NM_012455.3(PSD4):c.827G>T (p.Gly276Val) | not specified [RCV005261378] | uncertain significance | 2 | 113183283 | 113183283 | Human | | name |
| 15118072 | CV711436 | single nucleotide variant | NM_015310.4(PSD3):c.419C>T (p.Ala140Val) | not provided [RCV000962310] | benign | 8 | 18872445 | 18872445 | Human | | name |
| 15177162 | CV736568 | single nucleotide variant | NM_015310.4(PSD3):c.672C>G (p.Asp224Glu) | not provided [RCV000906586] | benign | 8 | 18872192 | 18872192 | Human | | name |
| 25317021 | CV805012 | single nucleotide variant | NM_015310.4(PSD3):c.437T>C (p.Ile146Thr) | Flexion contracture [RCV001007779] | uncertain significance | 8 | 18872427 | 18872427 | Human | 2 | name |
| 8629799 | CV84946 | single nucleotide variant | NM_012455.2(PSD4):c.848G>A (p.Ser283Asn) | Malignant melanoma [RCV000065028] | not provided | 2 | 113183304 | 113183304 | Human | | name |
| 155959236 | CV2193830 | single nucleotide variant | NM_012455.3(PSD4):c.2215G>C (p.Glu739Gln) | not specified [RCV004074579] | uncertain significance | 2 | 113195760 | 113195760 | Human | | name |
| 155978181 | CV2214983 | single nucleotide variant | NM_015310.4(PSD3):c.2105G>T (p.Cys702Phe) | not specified [RCV004084761] | uncertain significance | 8 | 18765516 | 18765516 | Human | | name |
| 155927895 | CV2218500 | single nucleotide variant | NM_012455.3(PSD4):c.2575G>A (p.Val859Ile) | not specified [RCV004090779] | uncertain significance | 2 | 113197864 | 113197864 | Human | | name |
| 155927931 | CV2218510 | single nucleotide variant | NM_032289.4(PSD2):c.1523C>T (p.Ala508Val) | not specified [RCV004090789] | uncertain significance | 5 | 139836930 | 139836930 | Human | | name |
| 156388015 | CV2221688 | single nucleotide variant | NM_012455.3(PSD4):c.1192G>A (p.Gly398Ser) | not specified [RCV004098457] | uncertain significance | 2 | 113185383 | 113185383 | Human | | name |
| 156280214 | CV2224106 | single nucleotide variant | NM_015310.4(PSD3):c.1631G>A (p.Gly544Glu) | not specified [RCV004095970] | uncertain significance | 8 | 18867677 | 18867677 | Human | | name |
| 156337270 | CV2228666 | single nucleotide variant | NM_012455.3(PSD4):c.1409C>T (p.Pro470Leu) | not specified [RCV004092887] | uncertain significance | 2 | 113186036 | 113186036 | Human | | name |
| 156229560 | CV2234982 | single nucleotide variant | NM_032289.4(PSD2):c.2191G>A (p.Ala731Thr) | not specified [RCV004113178] | uncertain significance | 5 | 139842349 | 139842349 | Human | | name |
| 156298322 | CV2251939 | single nucleotide variant | NM_032289.4(PSD2):c.1552G>A (p.Val518Ile) | not specified [RCV004119907] | uncertain significance | 5 | 139836959 | 139836959 | Human | | name |
| 156199370 | CV2255991 | single nucleotide variant | NM_015310.4(PSD3):c.1388C>T (p.Thr463Ile) | not specified [RCV004122435] | uncertain significance | 8 | 18867920 | 18867920 | Human | | name |
| 155980048 | CV2263612 | single nucleotide variant | NM_032289.4(PSD2):c.2120G>A (p.Arg707His) | not specified [RCV004135616] | uncertain significance | 5 | 139842278 | 139842278 | Human | | name |
| 156147814 | CV2265231 | single nucleotide variant | NM_015310.4(PSD3):c.2590G>A (p.Val864Met) | not specified [RCV004126342] | uncertain significance | 8 | 18575177 | 18575177 | Human | | name |
| 156240710 | CV2265586 | single nucleotide variant | NM_015310.4(PSD3):c.2014G>A (p.Ala672Thr) | not specified [RCV004124322] | uncertain significance | 8 | 18801279 | 18801279 | Human | | name |
| 156363488 | CV2265744 | single nucleotide variant | NM_012455.3(PSD4):c.1639A>G (p.Arg547Gly) | not specified [RCV004124453] | uncertain significance | 2 | 113192390 | 113192390 | Human | | name |
| 156366356 | CV2272282 | single nucleotide variant | NM_012455.3(PSD4):c.2591C>T (p.Thr864Met) | not specified [RCV004126948] | uncertain significance | 2 | 113197880 | 113197880 | Human | | name |
| 156250170 | CV2273248 | single nucleotide variant | NM_015310.4(PSD3):c.2558C>G (p.Ser853Cys) | not specified [RCV004132043] | uncertain significance | 8 | 18575209 | 18575209 | Human | | name |
| 155948509 | CV2273496 | single nucleotide variant | NM_032289.4(PSD2):c.2077G>A (p.Glu693Lys) | not specified [RCV004132240] | uncertain significance | 5 | 139840135 | 139840135 | Human | | name |
| 155916993 | CV2278484 | single nucleotide variant | NM_015310.4(PSD3):c.2055G>T (p.Met685Ile) | not specified [RCV004132926] | uncertain significance | 8 | 18799322 | 18799322 | Human | | name |
| 155928714 | CV2281211 | single nucleotide variant | NM_032289.4(PSD2):c.1827C>G (p.Ser609Arg) | not specified [RCV004147460] | uncertain significance | 5 | 139838631 | 139838631 | Human | | name |
| 156260942 | CV2287458 | single nucleotide variant | NM_032289.4(PSD2):c.2264G>T (p.Gly755Val) | not specified [RCV004140928] | uncertain significance | 5 | 139842422 | 139842422 | Human | | name |
| 156192528 | CV2289429 | single nucleotide variant | NM_015310.4(PSD3):c.2120C>A (p.Ala707Glu) | not specified [RCV004152382] | uncertain significance | 8 | 18765501 | 18765501 | Human | | name |
| 156002274 | CV2292177 | single nucleotide variant | NM_012455.3(PSD4):c.2879A>C (p.Glu960Ala) | not specified [RCV004148232] | uncertain significance | 2 | 113199192 | 113199192 | Human | | name |
| 156274454 | CV2293821 | single nucleotide variant | NM_015310.4(PSD3):c.2755C>G (p.Leu919Val) | not specified [RCV004155088] | uncertain significance | 8 | 18572557 | 18572557 | Human | | name |
| 156277794 | CV2300280 | single nucleotide variant | NM_032289.4(PSD2):c.2003G>A (p.Arg668Lys) | not specified [RCV004153237] | uncertain significance | 5 | 139840061 | 139840061 | Human | | name |
| 156048654 | CV2304444 | single nucleotide variant | NM_032289.4(PSD2):c.1723G>A (p.Val575Met) | not specified [RCV004164539] | uncertain significance | 5 | 139837682 | 139837682 | Human | | name |
| 156247650 | CV2306991 | single nucleotide variant | NM_015310.4(PSD3):c.2726G>A (p.Gly909Asp) | not specified [RCV004157499] | uncertain significance | 8 | 18572586 | 18572586 | Human | | name |
| 155971764 | CV2309337 | single nucleotide variant | NM_032289.4(PSD2):c.1052T>G (p.Leu351Arg) | not specified [RCV004165492] | uncertain significance | 5 | 139817516 | 139817516 | Human | | name |
| 156158845 | CV2314565 | single nucleotide variant | NM_012455.3(PSD4):c.1627C>A (p.His543Asn) | not specified [RCV004168653] | uncertain significance | 2 | 113186254 | 113186254 | Human | | name |
| 156165697 | CV2315186 | single nucleotide variant | NM_015310.4(PSD3):c.1657C>T (p.Arg553Trp) | not specified [RCV004165358] | uncertain significance | 8 | 18804876 | 18804876 | Human | | name |
| 156077648 | CV2318592 | single nucleotide variant | NM_015310.4(PSD3):c.2728T>G (p.Ser910Ala) | not specified [RCV004173495] | uncertain significance | 8 | 18572584 | 18572584 | Human | | name |
| 156352622 | CV2324015 | single nucleotide variant | NM_015310.4(PSD3):c.2125C>G (p.Leu709Val) | not specified [RCV004176528] | uncertain significance | 8 | 18765496 | 18765496 | Human | | name |
| 156177523 | CV2327190 | single nucleotide variant | NM_032289.4(PSD2):c.1549G>A (p.Gly517Ser) | not specified [RCV004174656] | uncertain significance | 5 | 139836956 | 139836956 | Human | | name |
| 155982131 | CV2337128 | single nucleotide variant | NM_012455.3(PSD4):c.2866C>G (p.Arg956Gly) | not specified [RCV004192888] | uncertain significance | 2 | 113199179 | 113199179 | Human | | name |
| 156189307 | CV2356603 | single nucleotide variant | NM_032289.4(PSD2):c.2079G>C (p.Glu693Asp) | not specified [RCV004201969] | uncertain significance | 5 | 139840137 | 139840137 | Human | | name |
| 156104908 | CV2361063 | single nucleotide variant | NM_012455.3(PSD4):c.1712G>A (p.Arg571Lys) | not specified [RCV004216259] | uncertain significance | 2 | 113192463 | 113192463 | Human | | name |
| 156105693 | CV2361305 | single nucleotide variant | NM_012455.3(PSD4):c.2200C>T (p.Arg734Cys) | not specified [RCV004218519] | uncertain significance | 2 | 113195745 | 113195745 | Human | | name |
| 156253620 | CV2366230 | single nucleotide variant | NM_015310.4(PSD3):c.2833G>A (p.Glu945Lys) | not specified [RCV004210246] | uncertain significance | 8 | 18556304 | 18556304 | Human | | name |
| 156402181 | CV2368115 | single nucleotide variant | NM_012455.3(PSD4):c.1376G>A (p.Arg459Lys) | not specified [RCV004216464] | uncertain significance | 2 | 113186003 | 113186003 | Human | | name |
| 156257263 | CV2369337 | single nucleotide variant | NM_012455.3(PSD4):c.2869G>A (p.Glu957Lys) | not specified [RCV004208242] | uncertain significance | 2 | 113199182 | 113199182 | Human | | name |
| 156307983 | CV2369849 | single nucleotide variant | NM_015310.4(PSD3):c.2297G>A (p.Arg766His) | not specified [RCV004208323] | uncertain significance | 8 | 18632726 | 18632726 | Human | | name |
| 155996775 | CV2373112 | single nucleotide variant | NM_012455.3(PSD4):c.2714C>A (p.Ser905Tyr) | not specified [RCV004217804] | uncertain significance | 2 | 113198829 | 113198829 | Human | | name |
| 155935915 | CV2379732 | single nucleotide variant | NM_015310.4(PSD3):c.2348C>G (p.Ala783Gly) | not specified [RCV004219852] | uncertain significance | 8 | 18632675 | 18632675 | Human | | name |
| 156267335 | CV2389293 | single nucleotide variant | NM_032289.4(PSD2):c.1580T>C (p.Met527Thr) | not specified [RCV004235608] | uncertain significance | 5 | 139836987 | 139836987 | Human | | name |
| 156270034 | CV2398643 | single nucleotide variant | NM_032289.4(PSD2):c.1792G>A (p.Ala598Thr) | not specified [RCV004239994] | uncertain significance | 5 | 139837751 | 139837751 | Human | | name |
| 156097375 | CV2399196 | single nucleotide variant | NM_015310.4(PSD3):c.2794C>A (p.Leu932Met) | not specified [RCV004246625] | uncertain significance | 8 | 18556343 | 18556343 | Human | | name |
| 329375853 | CV2431644 | single nucleotide variant | NM_012455.3(PSD4):c.1318C>A (p.Pro440Thr) | not specified [RCV004254789] | uncertain significance | 2 | 113185945 | 113185945 | Human | | name |
| 329354074 | CV2436905 | single nucleotide variant | NM_015310.4(PSD3):c.2326G>A (p.Asp776Asn) | not specified [RCV004260287] | uncertain significance | 8 | 18632697 | 18632697 | Human | | name |
| 329400744 | CV2438732 | single nucleotide variant | NM_012455.3(PSD4):c.1922G>A (p.Ser641Asn) | not specified [RCV004261882] | uncertain significance | 2 | 113193260 | 113193260 | Human | | name |
| 329365152 | CV2440082 | single nucleotide variant | NM_012455.3(PSD4):c.1468T>C (p.Ser490Pro) | not specified [RCV004260549] | likely benign | 2 | 113186095 | 113186095 | Human | | name |
| 329381376 | CV2440808 | single nucleotide variant | NM_012455.3(PSD4):c.1210C>T (p.Pro404Ser) | not specified [RCV004258749] | uncertain significance | 2 | 113185401 | 113185401 | Human | | name |
| 329364581 | CV2443713 | single nucleotide variant | NM_032289.4(PSD2):c.2230C>T (p.Arg744Trp) | not specified [RCV004256013] | uncertain significance | 5 | 139842388 | 139842388 | Human | | name |
| 329382777 | CV2445483 | single nucleotide variant | NM_012455.3(PSD4):c.2773G>C (p.Glu925Gln) | not specified [RCV004257542] | uncertain significance | 2 | 113199086 | 113199086 | Human | | name |
| 329373702 | CV2447335 | single nucleotide variant | NM_012455.3(PSD4):c.2251G>A (p.Glu751Lys) | not specified [RCV004262617] | uncertain significance | 2 | 113196172 | 113196172 | Human | | name |
| 329391868 | CV2453202 | single nucleotide variant | NM_012455.3(PSD4):c.2746G>T (p.Val916Leu) | not specified [RCV004279574] | uncertain significance | 2 | 113198861 | 113198861 | Human | | name |
| 329357052 | CV2460674 | single nucleotide variant | NM_015310.4(PSD3):c.2161G>T (p.Asp721Tyr) | not specified [RCV004270714] | uncertain significance | 8 | 18765460 | 18765460 | Human | | name |
| 401730857 | CV2674178 | single nucleotide variant | NM_015310.4(PSD3):c.2009C>T (p.Thr670Ile) | not specified [RCV004289075] | uncertain significance | 8 | 18801284 | 18801284 | Human | | name |
| 401757282 | CV2675210 | single nucleotide variant | NM_015310.4(PSD3):c.1673C>T (p.Ser558Phe) | not specified [RCV004289981] | uncertain significance | 8 | 18804860 | 18804860 | Human | | name |
| 401719805 | CV2675688 | single nucleotide variant | NM_032289.4(PSD2):c.1967A>G (p.Gln656Arg) | not specified [RCV004287939] | uncertain significance | 5 | 139838771 | 139838771 | Human | | name |
| 401723008 | CV2677167 | single nucleotide variant | NM_032289.4(PSD2):c.2134A>G (p.Ile712Val) | not specified [RCV004295799] | uncertain significance | 5 | 139842292 | 139842292 | Human | | name |
| 401735915 | CV2692229 | single nucleotide variant | NM_015310.4(PSD3):c.2746C>T (p.Arg916Cys) | not specified [RCV004303710] | uncertain significance | 8 | 18572566 | 18572566 | Human | | name |
| 401769823 | CV2693041 | single nucleotide variant | NM_012455.3(PSD4):c.2957T>G (p.Leu986Arg) | not specified [RCV004308589] | uncertain significance | 2 | 113201201 | 113201201 | Human | | name |
| 401745292 | CV2698508 | single nucleotide variant | NM_015310.4(PSD3):c.2024A>G (p.Asp675Gly) | not specified [RCV004299006] | uncertain significance | 8 | 18799353 | 18799353 | Human | | name |
| 401732131 | CV2708680 | single nucleotide variant | NM_012455.3(PSD4):c.1391C>T (p.Ser464Leu) | not specified [RCV004307659] | uncertain significance | 2 | 113186018 | 113186018 | Human | | name |
| 401738380 | CV2714434 | single nucleotide variant | NM_032289.4(PSD2):c.1931G>T (p.Arg644Leu) | not specified [RCV004317964] | uncertain significance | 5 | 139838735 | 139838735 | Human | | name |
| 401742732 | CV2715304 | single nucleotide variant | NM_015310.4(PSD3):c.2008A>G (p.Thr670Ala) | not specified [RCV004324640] | uncertain significance | 8 | 18801285 | 18801285 | Human | | name |
| 401780000 | CV2725816 | single nucleotide variant | NM_032289.4(PSD2):c.1456G>A (p.Gly486Arg) | not specified [RCV004316285] | uncertain significance | 5 | 139836863 | 139836863 | Human | | name |
| 401870399 | CV2765938 | single nucleotide variant | NM_032289.4(PSD2):c.1673A>G (p.Tyr558Cys) | not specified [RCV004337963] | uncertain significance | 5 | 139837632 | 139837632 | Human | | name |
| 401895654 | CV2768150 | single nucleotide variant | NM_032289.4(PSD2):c.1478C>T (p.Thr493Met) | not specified [RCV004350164] | uncertain significance | 5 | 139836885 | 139836885 | Human | | name |
| 401893977 | CV2770179 | single nucleotide variant | NM_032289.4(PSD2):c.2182C>G (p.Arg728Gly) | not specified [RCV004356073] | uncertain significance | 5 | 139842340 | 139842340 | Human | | name |
| 401887730 | CV2772118 | single nucleotide variant | NM_015310.4(PSD3):c.1714G>A (p.Glu572Lys) | not specified [RCV004344770] | uncertain significance | 8 | 18804819 | 18804819 | Human | | name |
| 401882976 | CV2788697 | single nucleotide variant | NM_012455.3(PSD4):c.2846C>T (p.Pro949Leu) | not specified [RCV004361176] | uncertain significance | 2 | 113199159 | 113199159 | Human | | name |
| 405661335 | CV3378280 | single nucleotide variant | NM_032289.4(PSD2):c.1604G>A (p.Gly535Glu) | not specified [RCV004513054] | uncertain significance | 5 | 139837177 | 139837177 | Human | | name |
| 405661338 | CV3378281 | single nucleotide variant | NM_032289.4(PSD2):c.2183G>A (p.Arg728Gln) | not specified [RCV004513055] | uncertain significance | 5 | 139842341 | 139842341 | Human | | name |
| 405661359 | CV3378289 | single nucleotide variant | NM_015310.4(PSD3):c.1712C>A (p.Pro571Gln) | not specified [RCV004513063] | uncertain significance | 8 | 18804821 | 18804821 | Human | | name |
| 405661364 | CV3378291 | single nucleotide variant | NM_015310.4(PSD3):c.2255C>G (p.Thr752Ser) | not specified [RCV004513065] | uncertain significance | 8 | 18632768 | 18632768 | Human | | name |
| 405661368 | CV3378292 | single nucleotide variant | NM_015310.4(PSD3):c.2489A>C (p.Tyr830Ser) | not specified [RCV004513066] | uncertain significance | 8 | 18575278 | 18575278 | Human | | name |
| 405661371 | CV3378293 | single nucleotide variant | NM_015310.4(PSD3):c.2606C>G (p.Thr869Ser) | not specified [RCV004513067] | uncertain significance | 8 | 18575161 | 18575161 | Human | | name |
| 405661375 | CV3378294 | single nucleotide variant | NM_015310.4(PSD3):c.2647G>A (p.Glu883Lys) | not specified [RCV004513068] | uncertain significance | 8 | 18572665 | 18572665 | Human | | name |
| 405661378 | CV3378295 | single nucleotide variant | NM_015310.4(PSD3):c.2823G>T (p.Gln941His) | not specified [RCV004513069] | uncertain significance | 8 | 18556314 | 18556314 | Human | | name |
| 405661386 | CV3378298 | single nucleotide variant | NM_012455.3(PSD4):c.1801T>C (p.Phe601Leu) | not specified [RCV004513072] | uncertain significance | 2 | 113192552 | 113192552 | Human | | name |
| 405661392 | CV3378300 | single nucleotide variant | NM_012455.3(PSD4):c.2264C>T (p.Pro755Leu) | not specified [RCV004513074] | likely benign | 2 | 113196185 | 113196185 | Human | | name |
| 405661394 | CV3378301 | single nucleotide variant | NM_012455.3(PSD4):c.2443C>T (p.Leu815Phe) | not specified [RCV004513075] | uncertain significance | 2 | 113197620 | 113197620 | Human | | name |
| 405661398 | CV3378302 | single nucleotide variant | NM_012455.3(PSD4):c.2518G>A (p.Val840Met) | not specified [RCV004513076] | uncertain significance | 2 | 113197807 | 113197807 | Human | | name |
| 405661401 | CV3378303 | single nucleotide variant | NM_012455.3(PSD4):c.2960A>G (p.His987Arg) | not specified [RCV004513077] | uncertain significance | 2 | 113201204 | 113201204 | Human | | name |
| 407490865 | CV3471739 | single nucleotide variant | NM_032289.4(PSD2):c.2210A>T (p.Glu737Val) | not specified [RCV004666725] | uncertain significance | 5 | 139842368 | 139842368 | Human | | name |
| 407531480 | CV3471742 | single nucleotide variant | NM_032289.4(PSD2):c.1930C>T (p.Arg644Trp) | not specified [RCV004657633] | uncertain significance | 5 | 139838734 | 139838734 | Human | | name |
| 407490871 | CV3471743 | single nucleotide variant | NM_032289.4(PSD2):c.1735C>G (p.Leu579Val) | not specified [RCV004666727] | uncertain significance | 5 | 139837694 | 139837694 | Human | | name |
| 407490874 | CV3471744 | single nucleotide variant | NM_032289.4(PSD2):c.1000C>T (p.Arg334Trp) | not specified [RCV004666728] | uncertain significance | 5 | 139814348 | 139814348 | Human | | name |
| 407531482 | CV3471746 | single nucleotide variant | NM_032289.4(PSD2):c.1957C>T (p.Arg653Cys) | not specified [RCV004657634] | uncertain significance | 5 | 139838761 | 139838761 | Human | | name |
| 407531484 | CV3471747 | single nucleotide variant | NM_032289.4(PSD2):c.2231G>A (p.Arg744Gln) | not specified [RCV004657635] | uncertain significance | 5 | 139842389 | 139842389 | Human | | name |
| 407531490 | CV3471750 | single nucleotide variant | NM_015310.4(PSD3):c.2228A>C (p.Glu743Ala) | not specified [RCV004657638] | uncertain significance | 8 | 18632795 | 18632795 | Human | | name |
| 407490880 | CV3471752 | single nucleotide variant | NM_015310.4(PSD3):c.2659G>A (p.Gly887Arg) | not specified [RCV004666730] | uncertain significance | 8 | 18572653 | 18572653 | Human | | name |
| 407531494 | CV3471753 | single nucleotide variant | NM_015310.4(PSD3):c.2327A>G (p.Asp776Gly) | not specified [RCV004657640] | uncertain significance | 8 | 18632696 | 18632696 | Human | | name |
| 407531496 | CV3471754 | single nucleotide variant | NM_015310.4(PSD3):c.1705G>C (p.Glu569Gln) | not specified [RCV004657641] | uncertain significance | 8 | 18804828 | 18804828 | Human | | name |
| 407531499 | CV3471755 | single nucleotide variant | NM_015310.4(PSD3):c.1931C>G (p.Ser644Cys) | not specified [RCV004657642] | uncertain significance | 8 | 18801362 | 18801362 | Human | | name |
| 407490883 | CV3471756 | single nucleotide variant | NM_015310.4(PSD3):c.2041A>G (p.Thr681Ala) | not specified [RCV004666731] | uncertain significance | 8 | 18799336 | 18799336 | Human | | name |
| 407531501 | CV3471757 | single nucleotide variant | NM_012455.3(PSD4):c.1715C>T (p.Pro572Leu) | not specified [RCV004657643] | uncertain significance | 2 | 113192466 | 113192466 | Human | | name |
| 407531503 | CV3471758 | single nucleotide variant | NM_012455.3(PSD4):c.2045C>G (p.Thr682Ser) | not specified [RCV004657644] | uncertain significance | 2 | 113193604 | 113193604 | Human | | name |
| 407531505 | CV3471759 | single nucleotide variant | NM_012455.3(PSD4):c.1654T>A (p.Ser552Thr) | not specified [RCV004657645] | uncertain significance | 2 | 113192405 | 113192405 | Human | | name |
| 407531507 | CV3471760 | single nucleotide variant | NM_012455.3(PSD4):c.2602C>T (p.Arg868Cys) | not specified [RCV004657646] | uncertain significance | 2 | 113197891 | 113197891 | Human | | name |
| 597772848 | CV3581842 | single nucleotide variant | NM_032289.4(PSD2):c.1001G>A (p.Arg334Gln) | not specified [RCV004851608] | uncertain significance | 5 | 139814349 | 139814349 | Human | | name |
| 597772858 | CV3581844 | single nucleotide variant | NM_032289.4(PSD2):c.1661A>G (p.Gln554Arg) | not specified [RCV004851610] | uncertain significance | 5 | 139837234 | 139837234 | Human | | name |
| 597772862 | CV3581845 | single nucleotide variant | NM_032289.4(PSD2):c.2275G>C (p.Gly759Arg) | not specified [RCV004851611] | uncertain significance | 5 | 139842433 | 139842433 | Human | | name |
| 597772877 | CV3581848 | single nucleotide variant | NM_032289.4(PSD2):c.2110G>A (p.Glu704Lys) | not specified [RCV004851614] | uncertain significance | 5 | 139840168 | 139840168 | Human | | name |
| 597772886 | CV3581850 | single nucleotide variant | NM_032289.4(PSD2):c.1169G>A (p.Arg390His) | not specified [RCV004851616] | uncertain significance | 5 | 139821964 | 139821964 | Human | | name |
| 597772891 | CV3581851 | single nucleotide variant | NM_015310.4(PSD3):c.1771C>T (p.Arg591Cys) | not specified [RCV004851617] | uncertain significance | 8 | 18804762 | 18804762 | Human | | name |
| 597772901 | CV3581853 | single nucleotide variant | NM_015310.4(PSD3):c.2849G>A (p.Arg950His) | not specified [RCV004851619] | uncertain significance | 8 | 18556288 | 18556288 | Human | | name |
| 597772906 | CV3581854 | single nucleotide variant | NM_015310.4(PSD3):c.2548G>A (p.Ala850Thr) | not specified [RCV004851620] | uncertain significance | 8 | 18575219 | 18575219 | Human | | name |
| 597772911 | CV3581856 | single nucleotide variant | NM_015310.4(PSD3):c.2129A>G (p.Gln710Arg) | not specified [RCV004851621] | uncertain significance | 8 | 18765492 | 18765492 | Human | | name |
| 597772916 | CV3581857 | single nucleotide variant | NM_015310.4(PSD3):c.2717C>G (p.Ala906Gly) | not specified [RCV004851622] | uncertain significance | 8 | 18572595 | 18572595 | Human | | name |
| 597772921 | CV3581858 | single nucleotide variant | NM_015310.4(PSD3):c.1872T>G (p.Phe624Leu) | not specified [RCV004851623] | uncertain significance | 8 | 18804560 | 18804560 | Human | | name |
| 597772926 | CV3581859 | single nucleotide variant | NM_015310.4(PSD3):c.2074C>T (p.His692Tyr) | not specified [RCV004851624] | uncertain significance | 8 | 18799303 | 18799303 | Human | | name |
| 597772933 | CV3581860 | single nucleotide variant | NM_015310.4(PSD3):c.2305A>T (p.Ser769Cys) | not specified [RCV004851625] | uncertain significance | 8 | 18632718 | 18632718 | Human | | name |
| 597772938 | CV3581861 | single nucleotide variant | NM_015310.4(PSD3):c.1804G>A (p.Asp602Asn) | not specified [RCV004851626] | uncertain significance | 8 | 18804729 | 18804729 | Human | | name |
| 597772947 | CV3581863 | single nucleotide variant | NM_012455.3(PSD4):c.1993C>T (p.Arg665Cys) | not specified [RCV004851628] | uncertain significance | 2 | 113193331 | 113193331 | Human | | name |
| 597772953 | CV3581864 | single nucleotide variant | NM_012455.3(PSD4):c.2860C>G (p.Arg954Gly) | not specified [RCV004851629] | uncertain significance | 2 | 113199173 | 113199173 | Human | | name |
| 597772958 | CV3581866 | single nucleotide variant | NM_012455.3(PSD4):c.2192G>T (p.Trp731Leu) | not specified [RCV004851630] | uncertain significance | 2 | 113195737 | 113195737 | Human | | name |
| 597772962 | CV3581867 | single nucleotide variant | NM_012455.3(PSD4):c.2494G>A (p.Val832Met) | not specified [RCV004851631] | uncertain significance | 2 | 113197783 | 113197783 | Human | | name |
| 598162328 | CV3898020 | single nucleotide variant | NM_032289.4(PSD2):c.2053G>A (p.Gly685Ser) | not specified [RCV005261358] | uncertain significance | 5 | 139840111 | 139840111 | Human | | name |
| 598162338 | CV3898022 | single nucleotide variant | NM_032289.4(PSD2):c.2117G>A (p.Ser706Asn) | not specified [RCV005261360] | uncertain significance | 5 | 139842275 | 139842275 | Human | | name |
| 598162343 | CV3898023 | single nucleotide variant | NM_032289.4(PSD2):c.2084G>A (p.Arg695Gln) | not specified [RCV005261361] | uncertain significance | 5 | 139840142 | 139840142 | Human | | name |
| 598162349 | CV3898024 | single nucleotide variant | NM_032289.4(PSD2):c.2114A>G (p.Lys705Arg) | not specified [RCV005261362] | uncertain significance | 5 | 139842272 | 139842272 | Human | | name |
| 598162354 | CV3898025 | single nucleotide variant | NM_032289.4(PSD2):c.1815C>G (p.Phe605Leu) | not specified [RCV005261363] | uncertain significance | 5 | 139837774 | 139837774 | Human | | name |
| 598162360 | CV3898026 | single nucleotide variant | NM_015310.4(PSD3):c.2087T>C (p.Ile696Thr) | not specified [RCV005261364] | uncertain significance | 8 | 18765534 | 18765534 | Human | | name |
| 598162364 | CV3898027 | single nucleotide variant | NM_015310.4(PSD3):c.2946G>A (p.Met982Ile) | not specified [RCV005261365] | likely benign | 8 | 18535941 | 18535941 | Human | | name |
| 598162370 | CV3898028 | single nucleotide variant | NM_015310.4(PSD3):c.1822G>C (p.Gly608Arg) | not specified [RCV005261366] | uncertain significance | 8 | 18804711 | 18804711 | Human | | name |
| 598162378 | CV3898029 | single nucleotide variant | NM_015310.4(PSD3):c.1794C>G (p.Phe598Leu) | not specified [RCV005261367] | uncertain significance | 8 | 18804739 | 18804739 | Human | | name |
| 598162384 | CV3898030 | single nucleotide variant | NM_015310.4(PSD3):c.2548G>T (p.Ala850Ser) | not specified [RCV005261368] | uncertain significance | 8 | 18575219 | 18575219 | Human | | name |
| 598162389 | CV3898031 | single nucleotide variant | NM_015310.4(PSD3):c.2252G>A (p.Ser751Asn) | not specified [RCV005261369] | uncertain significance | 8 | 18632771 | 18632771 | Human | | name |
| 598162395 | CV3898032 | single nucleotide variant | NM_015310.4(PSD3):c.1853C>A (p.Ala618Glu) | not specified [RCV005261370] | uncertain significance | 8 | 18804579 | 18804579 | Human | | name |
| 598162400 | CV3898033 | single nucleotide variant | NM_015310.4(PSD3):c.2308A>G (p.Thr770Ala) | not specified [RCV005261371] | uncertain significance | 8 | 18632715 | 18632715 | Human | | name |
| 598162406 | CV3898034 | single nucleotide variant | NM_015310.4(PSD3):c.2487A>C (p.Glu829Asp) | not specified [RCV005261372] | uncertain significance | 8 | 18575280 | 18575280 | Human | | name |
| 598162413 | CV3898035 | single nucleotide variant | NM_012455.3(PSD4):c.1337C>G (p.Pro446Arg) | not specified [RCV005261373] | uncertain significance | 2 | 113185964 | 113185964 | Human | | name |
| 598162419 | CV3898036 | single nucleotide variant | NM_012455.3(PSD4):c.2927A>G (p.Glu976Gly) | not specified [RCV005261374] | uncertain significance | 2 | 113201171 | 113201171 | Human | | name |
| 598162431 | CV3898038 | single nucleotide variant | NM_012455.3(PSD4):c.1244A>G (p.Asp415Gly) | not specified [RCV005261376] | uncertain significance | 2 | 113185435 | 113185435 | Human | | name |
| 598162448 | CV3898041 | single nucleotide variant | NM_012455.3(PSD4):c.1844A>G (p.Asp615Gly) | not specified [RCV005261379] | uncertain significance | 2 | 113193053 | 113193053 | Human | | name |
| 598162453 | CV3898042 | single nucleotide variant | NM_012455.3(PSD4):c.2077G>C (p.Asp693His) | not specified [RCV005261380] | uncertain significance | 2 | 113193636 | 113193636 | Human | | name |
| 15170911 | CV700506 | single nucleotide variant | NM_015310.4(PSD3):c.1925C>A (p.Ala642Glu) | not provided [RCV000949737] | benign | 8 | 18801368 | 18801368 | Human | | name |
| 15197796 | CV700508 | single nucleotide variant | NM_015310.4(PSD3):c.1147C>T (p.Arg383Cys) | not provided [RCV000956566] | benign | 8 | 18871717 | 18871717 | Human | | name |
| 15202959 | CV700509 | single nucleotide variant | NM_015310.4(PSD3):c.1046G>T (p.Gly349Val) | not provided [RCV000958132] | benign | 8 | 18871818 | 18871818 | Human | | name |
| 15180189 | CV711434 | single nucleotide variant | NM_015310.4(PSD3):c.1261G>T (p.Val421Phe) | not provided [RCV000974091] | benign | 8 | 18868047 | 18868047 | Human | | name |
| 15149877 | CV736567 | single nucleotide variant | NM_015310.4(PSD3):c.1594A>C (p.Ile532Leu) | not provided [RCV000901030] | benign | 8 | 18867714 | 18867714 | Human | | name |
| 8629801 | CV84948 | single nucleotide variant | NM_012455.2(PSD4):c.1141C>T (p.Leu381Phe) | Malignant melanoma [RCV000065030] | not provided | 2 | 113185041 | 113185041 | Human | | name |
| 8629802 | CV84949 | single nucleotide variant | NM_012455.2(PSD4):c.1369G>A (p.Gly457Ser) | Malignant melanoma [RCV000065031] | not provided | 2 | 113185996 | 113185996 | Human | | name |
| 8629803 | CV84950 | single nucleotide variant | NM_012455.2(PSD4):c.1370G>A (p.Gly457Asp) | Malignant melanoma [RCV000065032] | not provided | 2 | 113185997 | 113185997 | Human | | name |
| 156030814 | CV2202550 | single nucleotide variant | NM_015310.4(PSD3):c.3023C>T (p.Ser1008Leu) | not specified [RCV004080836] | uncertain significance | 8 | 18535864 | 18535864 | Human | | name |
| 156293418 | CV2233543 | single nucleotide variant | NM_015310.4(PSD3):c.3050A>C (p.Asp1017Ala) | not specified [RCV004100021] | uncertain significance | 8 | 18535837 | 18535837 | Human | | name |
| 156099416 | CV2250674 | single nucleotide variant | NM_015310.4(PSD3):c.3026A>C (p.His1009Pro) | not specified [RCV004129300] | uncertain significance | 8 | 18535861 | 18535861 | Human | | name |
| 156159437 | CV2262571 | single nucleotide variant | NM_015310.4(PSD3):c.3047C>T (p.Pro1016Leu) | not specified [RCV004130779] | uncertain significance | 8 | 18535840 | 18535840 | Human | | name |
| 155916235 | CV2336110 | single nucleotide variant | NM_012455.3(PSD4):c.3023G>C (p.Arg1008Pro) | not specified [RCV004189705] | uncertain significance | 2 | 113201267 | 113201267 | Human | | name |
| 156071289 | CV2337747 | single nucleotide variant | NM_015310.4(PSD3):c.3107G>A (p.Arg1036Gln) | not specified [RCV004183768] | uncertain significance | 8 | 18535780 | 18535780 | Human | | name |
| 401724452 | CV2677883 | single nucleotide variant | NM_015310.4(PSD3):c.3080G>A (p.Arg1027His) | not specified [RCV004294375] | uncertain significance | 8 | 18535807 | 18535807 | Human | | name |
| 401874518 | CV2774013 | single nucleotide variant | NM_012455.3(PSD4):c.3081G>C (p.Glu1027Asp) | not specified [RCV004358421] | uncertain significance | 2 | 113201325 | 113201325 | Human | | name |
| 405661380 | CV3378296 | single nucleotide variant | NM_015310.4(PSD3):c.3001G>A (p.Glu1001Lys) | not specified [RCV004513070] | uncertain significance | 8 | 18535886 | 18535886 | Human | | name |
| 405661407 | CV3378305 | single nucleotide variant | NM_012455.3(PSD4):c.3076G>A (p.Asp1026Asn) | not specified [RCV004513079] | uncertain significance | 2 | 113201320 | 113201320 | Human | | name |
| 405661410 | CV3378306 | single nucleotide variant | NM_012455.3(PSD4):c.3158G>A (p.Arg1053His) | not specified [RCV004513080] | uncertain significance | 2 | 113201402 | 113201402 | Human | | name |
| 597772896 | CV3581852 | single nucleotide variant | NM_015310.4(PSD3):c.3065C>G (p.Thr1022Ser) | not specified [RCV004851618] | uncertain significance | 8 | 18535822 | 18535822 | Human | | name |
| 597772942 | CV3581862 | single nucleotide variant | NM_012455.3(PSD4):c.3131A>C (p.Tyr1044Ser) | not specified [RCV004851627] | uncertain significance | 2 | 113201375 | 113201375 | Human | | name |
| 597772999 | CV3581874 | single nucleotide variant | NM_012455.3(PSD4):c.3121C>T (p.Arg1041Cys) | not specified [RCV004851638] | uncertain significance | 2 | 113201365 | 113201365 | Human | | name |