| 150514613 | CV1228574 | single nucleotide variant | NM_005019.7(PDE1A):c.101+113C>T | not provided [RCV001638562] | benign | 2 | 182522163 | 182522163 | Human | | name |
| 150446333 | CV1233324 | duplication | NM_001363871.4(PDE1A):c.54-8dup | not provided [RCV001645998] | benign | 2 | 182264421 | 182264422 | Human | | name |
| 150495719 | CV1225145 | single nucleotide variant | NM_001363871.4(PDE1A):c.776+7C>T | not provided [RCV001619623] | benign | 2 | 182223857 | 182223857 | Human | | name |
| 150339901 | CV1167929 | single nucleotide variant | NM_001363871.4(PDE1A):c.902+87C>T | not provided [RCV001534728] | benign | 2 | 182205853 | 182205853 | Human | | name |
| 150492983 | CV1225576 | single nucleotide variant | NM_001363871.4(PDE1A):c.675+60T>G | not provided [RCV001619092] | benign | 2 | 182229946 | 182229946 | Human | | name |
| 150515914 | CV1227709 | single nucleotide variant | NM_001363871.4(PDE1A):c.54-101T>C | not provided [RCV001638984] | benign | 2 | 182264515 | 182264515 | Human | | name |
| 150479561 | CV1273488 | single nucleotide variant | NM_001363871.4(PDE1A):c.902+48T>A | not provided [RCV001696692] | benign | 2 | 182205892 | 182205892 | Human | | name |
| 150514941 | CV1217326 | deletion | NM_001363871.4(PDE1A):c.675+225del | not provided [RCV001608230] | benign | 2 | 182229781 | 182229781 | Human | | name |
| 150475157 | CV1217907 | single nucleotide variant | NM_001363871.4(PDE1A):c.1004+24G>T | not provided [RCV001615918] | benign | 2 | 182201664 | 182201664 | Human | | name |
| 150491354 | CV1225290 | duplication | NM_001363871.4(PDE1A):c.1004+37dup | not provided [RCV001618805] | benign | 2 | 182201650 | 182201651 | Human | | name |
| 150510985 | CV1229316 | single nucleotide variant | NM_001363871.4(PDE1A):c.777-119C>T | not provided [RCV001637244] | benign | 2 | 182206184 | 182206184 | Human | | name |
| 150505224 | CV1255416 | single nucleotide variant | NM_001363871.4(PDE1A):c.167+202A>G | not provided [RCV001677863] | benign | 2 | 182264099 | 182264099 | Human | | name |
| 150470451 | CV1258588 | single nucleotide variant | NM_001363871.4(PDE1A):c.534+233T>C | not provided [RCV001684133] | benign | 2 | 182230782 | 182230782 | Human | | name |
| 150490013 | CV1279408 | single nucleotide variant | NM_001363871.4(PDE1A):c.1207+62A>T | not provided [RCV001716396] | benign | 2 | 182188917 | 182188917 | Human | | name |
| 150473464 | CV1281493 | single nucleotide variant | NM_001363871.4(PDE1A):c.1207+48G>C | not provided [RCV001713534] | benign | 2 | 182188931 | 182188931 | Human | | name |
| 150451562 | CV1220880 | single nucleotide variant | NM_001363871.4(PDE1A):c.168-1739A>C | not provided [RCV001611974] | benign | 2 | 182242031 | 182242031 | Human | | name |
| 150517306 | CV1226754 | single nucleotide variant | NM_001363871.4(PDE1A):c.168-1408G>C | not provided [RCV001639848] | benign | 2 | 182241700 | 182241700 | Human | | name |
| 150513470 | CV1229020 | single nucleotide variant | NM_001363871.4(PDE1A):c.1208-106T>C | not provided [RCV001637862] | benign | 2 | 182186694 | 182186694 | Human | | name |
| 150454289 | CV1232243 | single nucleotide variant | NM_001363871.4(PDE1A):c.168-1978C>A | not provided [RCV001648256] | benign | 2 | 182242270 | 182242270 | Human | | name |
| 150511081 | CV1242599 | single nucleotide variant | NM_001363871.4(PDE1A):c.168-1806A>G | not provided [RCV001660951] | benign | 2 | 182242098 | 182242098 | Human | | name |
| 150430607 | CV1243391 | single nucleotide variant | NM_001363871.4(PDE1A):c.1208-134A>G | not provided [RCV001663008] | benign | 2 | 182186722 | 182186722 | Human | | name |
| 150499515 | CV1254371 | single nucleotide variant | NM_001363871.4(PDE1A):c.1329-157G>C | not provided [RCV001676545] | benign | 2 | 182186236 | 182186236 | Human | | name |
| 405287631 | CV3210719 | single nucleotide variant | NM_001363871.4(PDE1A):c.168-1621T>G | PDE1A-related disorder [RCV003924478] | likely benign | 2 | 182241913 | 182241913 | Human | | name , trait , alternate_id |
| 8630080 | CV85227 | single nucleotide variant | NM_001003683.2(PDE1A):c.216-1530G>A | Malignant melanoma [RCV000065309] | not provided | 2 | 182241822 | 182241822 | Human | | name |
| 150517310 | CV1226758 | single nucleotide variant | NM_001363871.4(PDE1A):c.1516+17841A>G | not provided [RCV001639852] | benign | 2 | 182168051 | 182168051 | Human | | name |
| 150438019 | CV1247116 | single nucleotide variant | NM_001363871.4(PDE1A):c.1516+17417T>C | not provided [RCV001665885] | benign | 2 | 182168475 | 182168475 | Human | | name |
| 150479080 | CV1258196 | deletion | NM_001363871.4(PDE1A):c.1516+17598del | not provided [RCV001685612] | benign | 2 | 182168294 | 182168294 | Human | | name |
| 329350008 | CV2452298 | single nucleotide variant | NM_005019.7(PDE1A):c.67C>G (p.Gln23Glu) | not specified [RCV004278976] | uncertain significance | 2 | 182522310 | 182522310 | Human | | name |
| 150440132 | CV1221405 | duplication | NM_001363871.4(PDE1A):c.1004+36_1004+37dup | not provided [RCV001610100] | benign | 2 | 182201650 | 182201651 | Human | | name |
| 150515469 | CV1227568 | duplication | NM_001363871.4(PDE1A):c.1004+35_1004+37dup | not provided [RCV001638841] | benign | 2 | 182201650 | 182201651 | Human | | name |
| 150451525 | CV1254839 | duplication | NM_001363871.4(PDE1A):c.1004+32_1004+37dup | not provided [RCV001667898] | benign | 2 | 182201650 | 182201651 | Human | | name |
| 150484645 | CV1273861 | duplication | NM_001363871.4(PDE1A):c.1004+33_1004+37dup | not provided [RCV001698541] | benign | 2 | 182201650 | 182201651 | Human | | name |
| 401895432 | CV2786474 | single nucleotide variant | NM_001363871.4(PDE1A):c.56T>C (p.Leu19Pro) | not specified [RCV004362051] | uncertain significance | 2 | 182264412 | 182264412 | Human | | name |
| 405866976 | CV2842518 | single nucleotide variant | NM_001363871.4(PDE1A):c.405C>T (p.Ile135=) | EBV-positive nodal T- and NK-cell lymphoma [RCV004557875] | likely benign | 2 | 182234444 | 182234444 | Human | | name |
| 156223282 | CV2232947 | single nucleotide variant | NM_001363871.4(PDE1A):c.100G>A (p.Val34Ile) | not specified [RCV004103326] | uncertain significance | 2 | 182264368 | 182264368 | Human | | name |
| 401888569 | CV2757714 | single nucleotide variant | NM_001363871.4(PDE1A):c.260G>A (p.Arg87Gln) | not specified [RCV004336867] | uncertain significance | 2 | 182240200 | 182240200 | Human | | name |
| 405775631 | CV3375175 | single nucleotide variant | NM_001363871.4(PDE1A):c.136G>A (p.Val46Met) | not specified [RCV004503051] | uncertain significance | 2 | 182264332 | 182264332 | Human | | name |
| 405775639 | CV3375176 | single nucleotide variant | NM_001363871.4(PDE1A):c.211G>T (p.Asp71Tyr) | not specified [RCV004503052] | uncertain significance | 2 | 182240249 | 182240249 | Human | | name |
| 405775646 | CV3375177 | single nucleotide variant | NM_001363871.4(PDE1A):c.287C>G (p.Pro96Arg) | not specified [RCV004503053] | uncertain significance | 2 | 182240173 | 182240173 | Human | | name |
| 597698881 | CV3568747 | single nucleotide variant | NM_001363871.4(PDE1A):c.233G>A (p.Arg78Gln) | not specified [RCV004839518] | uncertain significance | 2 | 182240227 | 182240227 | Human | | name |
| 8630079 | CV85226 | single nucleotide variant | NM_001003683.2(PDE1A):c.1167C>T (p.Phe389=) | Malignant melanoma [RCV000065308] | not provided | 2 | 182201445 | 182201445 | Human | | name |
| 150467635 | CV1277604 | insertion | NM_001363871.4(PDE1A):c.675+224_675+225insAG | not provided [RCV001710899] | benign | 2 | 182229781 | 182229782 | Human | | name |
| 156384722 | CV2231170 | single nucleotide variant | NM_001363871.4(PDE1A):c.982A>G (p.Asn328Asp) | not specified [RCV004094376] | uncertain significance | 2 | 182201710 | 182201710 | Human | | name |
| 156232347 | CV2273690 | single nucleotide variant | NM_001363871.4(PDE1A):c.571T>G (p.Leu191Val) | not specified [RCV004132346] | uncertain significance | 2 | 182230110 | 182230110 | Human | | name |
| 329402408 | CV2454252 | single nucleotide variant | NM_001363871.4(PDE1A):c.526C>T (p.Arg176Cys) | not specified [RCV004265726] | uncertain significance | 2 | 182231023 | 182231023 | Human | | name |
| 401749526 | CV2710791 | single nucleotide variant | NM_001363871.4(PDE1A):c.739C>T (p.His247Tyr) | not specified [RCV004308720] | uncertain significance | 2 | 182223901 | 182223901 | Human | | name |
| 405238697 | CV3081297 | microsatellite | NM_001363871.4(PDE1A):c.53+38808_53+38811del | not provided [RCV003736401] | benign | 2 | 182387767 | 182387770 | Human | | name |
| 405284755 | CV3190529 | single nucleotide variant | NM_001363871.4(PDE1A):c.527G>A (p.Arg176His) | PDE1A-related disorder [RCV003909335] | likely benign | 2 | 182231022 | 182231022 | Human | | name , trait , alternate_id |
| 405775652 | CV3375178 | single nucleotide variant | NM_001363871.4(PDE1A):c.406G>A (p.Val136Ile) | not specified [RCV004503054] | uncertain significance | 2 | 182234443 | 182234443 | Human | | name |
| 405775658 | CV3375179 | single nucleotide variant | NM_001363871.4(PDE1A):c.682C>T (p.Leu228Phe) | not specified [RCV004503055] | uncertain significance | 2 | 182223958 | 182223958 | Human | | name |
| 407463281 | CV3460146 | single nucleotide variant | NM_001363871.4(PDE1A):c.682C>G (p.Leu228Val) | not specified [RCV004659641] | uncertain significance | 2 | 182223958 | 182223958 | Human | | name |
| 407463285 | CV3460147 | single nucleotide variant | NM_001363871.4(PDE1A):c.486T>A (p.Phe162Leu) | not specified [RCV004659642] | uncertain significance | 2 | 182231063 | 182231063 | Human | | name |
| 407463291 | CV3460148 | single nucleotide variant | NM_001363871.4(PDE1A):c.869A>T (p.Asn290Ile) | not specified [RCV004659643] | uncertain significance | 2 | 182205973 | 182205973 | Human | | name |
| 597698872 | CV3568745 | single nucleotide variant | NM_001363871.4(PDE1A):c.351A>T (p.Arg117Ser) | not specified [RCV004839517] | uncertain significance | 2 | 182234498 | 182234498 | Human | | name |
| 597698890 | CV3568748 | single nucleotide variant | NM_001363871.4(PDE1A):c.331G>C (p.Ala111Pro) | not specified [RCV004839519] | uncertain significance | 2 | 182240129 | 182240129 | Human | | name |
| 598165972 | CV4006196 | single nucleotide variant | NM_001363871.4(PDE1A):c.806G>A (p.Arg269His) | not specified [RCV005391416] | uncertain significance | 2 | 182206036 | 182206036 | Human | | name |
| 8625222 | CV80341 | single nucleotide variant | NM_001003683.2(PDE1A):c.340G>A (p.Glu114Lys) | Malignant melanoma [RCV000060418] | not provided | 2 | 182240168 | 182240168 | Human | | name |
| 156180855 | CV2201772 | single nucleotide variant | NM_001363871.4(PDE1A):c.1333A>G (p.Thr445Ala) | not specified [RCV004082214] | uncertain significance | 2 | 182186075 | 182186075 | Human | | name |
| 156087855 | CV2337049 | single nucleotide variant | NM_001363871.4(PDE1A):c.1340T>C (p.Ile447Thr) | not specified [RCV004192814] | uncertain significance | 2 | 182186068 | 182186068 | Human | | name |
| 329379121 | CV2460174 | single nucleotide variant | NM_001363871.4(PDE1A):c.1276C>T (p.Pro426Ser) | not specified [RCV004273273] | uncertain significance | 2 | 182186520 | 182186520 | Human | | name |
| 401724248 | CV2714769 | single nucleotide variant | NM_001363871.4(PDE1A):c.1354A>G (p.Ile452Val) | not specified [RCV004320335] | likely benign | 2 | 182186054 | 182186054 | Human | | name |
| 401779591 | CV2731912 | single nucleotide variant | NM_001363871.4(PDE1A):c.1313C>T (p.Ser438Phe) | not specified [RCV004333154] | uncertain significance | 2 | 182186483 | 182186483 | Human | | name |
| 401892124 | CV2775949 | single nucleotide variant | NM_001363871.4(PDE1A):c.1453A>C (p.Lys485Gln) | not specified [RCV004344968] | uncertain significance | 2 | 182185955 | 182185955 | Human | | name |
| 405775601 | CV3375170 | single nucleotide variant | NM_001363871.4(PDE1A):c.1224A>G (p.Ile408Met) | not specified [RCV004503046] | uncertain significance | 2 | 182186572 | 182186572 | Human | | name |
| 405775614 | CV3375172 | single nucleotide variant | NM_001363871.4(PDE1A):c.1435G>A (p.Val479Met) | not specified [RCV004503048] | uncertain significance | 2 | 182185973 | 182185973 | Human | | name |
| 405775620 | CV3375173 | single nucleotide variant | NM_001363871.4(PDE1A):c.1508C>A (p.Ala503Asp) | not specified [RCV004503049] | uncertain significance | 2 | 182185900 | 182185900 | Human | | name |
| 405775626 | CV3375174 | single nucleotide variant | NM_001363871.4(PDE1A):c.1523C>T (p.Ser508Phe) | not specified [RCV004503050] | uncertain significance | 2 | 182147146 | 182147146 | Human | | name |
| 597756763 | CV3568743 | single nucleotide variant | NM_001363871.4(PDE1A):c.1088G>A (p.Arg363Gln) | not specified [RCV004848189] | uncertain significance | 2 | 182201476 | 182201476 | Human | | name |
| 597756769 | CV3568744 | single nucleotide variant | NM_001363871.4(PDE1A):c.1042G>A (p.Ala348Thr) | not specified [RCV004848190] | uncertain significance | 2 | 182201522 | 182201522 | Human | | name |
| 598165979 | CV4006197 | single nucleotide variant | NM_001363871.4(PDE1A):c.1556A>G (p.Asn519Ser) | not specified [RCV005391417] | uncertain significance | 2 | 182147113 | 182147113 | Human | | name |