| 405275870 | CV3199523 | single nucleotide variant | NM_000921.5(PDE3A):c.-6T>G | PDE3A-related disorder [RCV003916922] | benign | 12 | 20369279 | 20369279 | Human | | name , trait , alternate_id |
| 150450192 | CV1232649 | microsatellite | NM_000921.5(PDE3A):c.-93TG[8] | not provided [RCV001647724] | benign | 12 | 20369191 | 20369194 | Human | | name |
| 150446906 | CV1261434 | microsatellite | NM_000921.5(PDE3A):c.-93TG[11] | not provided [RCV001680108] | benign | 12 | 20369190 | 20369191 | Human | | name |
| 156021612 | CV2040681 | single nucleotide variant | NM_000921.5(PDE3A):c.960+20C>T | not provided [RCV002795613] | likely benign | 12 | 20370264 | 20370264 | Human | | name |
| 402525257 | CV2868522 | single nucleotide variant | NM_000921.5(PDE3A):c.2366-7T>A | not provided [RCV003548060] | likely benign | 12 | 20646744 | 20646744 | Human | | name |
| 402484395 | CV2944879 | single nucleotide variant | NM_000921.5(PDE3A):c.2139+9T>C | not provided [RCV003659936] | likely benign | 12 | 20637246 | 20637246 | Human | | name |
| 408379981 | CV3508161 | single nucleotide variant | NM_000921.5(PDE3A):c.2769+6T>G | PDE3A-related disorder [RCV004753803] | likely benign | 12 | 20648897 | 20648897 | Human | | name , trait , alternate_id |
| 597972435 | CV3790277 | single nucleotide variant | NM_000921.5(PDE3A):c.1540+1G>A | not provided [RCV005142700] | uncertain significance | 12 | 20621412 | 20621412 | Human | | name |
| 15119105 | CV776021 | single nucleotide variant | NM_000921.5(PDE3A):c.2002-8C>T | PDE3A-related disorder [RCV003933207]|not provided [RCV000940126] | benign|likely benign | 12 | 20637092 | 20637092 | Human | 1 | name , trait , alternate_id |
| 15107846 | CV779773 | single nucleotide variant | NM_000921.5(PDE3A):c.2565+4A>G | not provided [RCV000960373] | likely benign | 12 | 20646954 | 20646954 | Human | | name |
| 150334307 | CV1172390 | duplication | NM_000921.5(PDE3A):c.960+155dup | not provided [RCV001539966] | benign | 12 | 20370389 | 20370390 | Human | | name |
| 150333060 | CV1172391 | single nucleotide variant | NM_000921.5(PDE3A):c.1760+38A>C | Brachydactyly-arterial hypertension syndrome [RCV001788588]|not provided [RCV001539297] | benign | 12 | 20630165 | 20630165 | Human | 1 | name |
| 150516350 | CV1216817 | single nucleotide variant | NM_000921.5(PDE3A):c.1760+39C>T | not provided [RCV001608719] | benign | 12 | 20630166 | 20630166 | Human | | name |
| 150469681 | CV1219114 | single nucleotide variant | NM_000921.5(PDE3A):c.2770-56A>C | not provided [RCV001614866] | benign | 12 | 20650389 | 20650389 | Human | | name |
| 150494442 | CV1224900 | duplication | NM_000921.5(PDE3A):c.2769+52dup | not provided [RCV001619378] | benign | 12 | 20648927 | 20648928 | Human | | name |
| 150514028 | CV1228019 | single nucleotide variant | NM_000921.5(PDE3A):c.960+166T>G | not provided [RCV001638297] | benign | 12 | 20370410 | 20370410 | Human | | name |
| 150450853 | CV1232727 | single nucleotide variant | NM_000921.5(PDE3A):c.1011+89G>A | not provided [RCV001647802] | benign | 12 | 20556799 | 20556799 | Human | | name |
| 150444720 | CV1233057 | single nucleotide variant | NM_000921.5(PDE3A):c.2925+15T>C | Brachydactyly-arterial hypertension syndrome [RCV001788670]|not provided [RCV001645730] | benign | 12 | 20650615 | 20650615 | Human | 1 | name |
| 150463837 | CV1237690 | single nucleotide variant | NM_000921.5(PDE3A):c.1269+51G>C | not provided [RCV001649696] | benign | 12 | 20613751 | 20613751 | Human | | name |
| 150437552 | CV1249888 | single nucleotide variant | NM_000921.5(PDE3A):c.960+167T>G | not provided [RCV001665802] | benign | 12 | 20370411 | 20370411 | Human | | name |
| 150497765 | CV1256764 | single nucleotide variant | NM_000921.5(PDE3A):c.1846+95T>G | not provided [RCV001676256] | benign | 12 | 20633873 | 20633873 | Human | | name |
| 150468570 | CV1257070 | single nucleotide variant | NM_000921.5(PDE3A):c.960+165G>T | not provided [RCV001670716] | benign | 12 | 20370409 | 20370409 | Human | | name |
| 150506279 | CV1257299 | single nucleotide variant | NM_000921.5(PDE3A):c.2769+30C>T | Brachydactyly-arterial hypertension syndrome [RCV001788746]|not provided [RCV001678137] | benign | 12 | 20648921 | 20648921 | Human | 1 | name |
| 150441602 | CV1265583 | single nucleotide variant | NM_000921.5(PDE3A):c.1846+75T>C | not provided [RCV001679287] | benign | 12 | 20633853 | 20633853 | Human | | name |
| 150465353 | CV1268595 | deletion | NM_000921.5(PDE3A):c.960+165del | not provided [RCV001694291] | benign | 12 | 20370409 | 20370409 | Human | | name |
| 152058696 | CV1535949 | single nucleotide variant | NM_000921.5(PDE3A):c.2769+16C>T | not provided [RCV002146530] | benign | 12 | 20648907 | 20648907 | Human | | name |
| 152042523 | CV1618065 | single nucleotide variant | NM_000921.5(PDE3A):c.2140-19G>T | not provided [RCV002206535] | benign | 12 | 20639827 | 20639827 | Human | | name |
| 401918758 | CV2794668 | single nucleotide variant | NM_000921.5(PDE3A):c.2139+12A>G | not specified [RCV003388342] | likely benign | 12 | 20637249 | 20637249 | Human | | name |
| 405011146 | CV2933681 | single nucleotide variant | NM_000921.5(PDE3A):c.2565+13A>C | not provided [RCV003576743] | likely benign | 12 | 20646963 | 20646963 | Human | | name |
| 597895452 | CV3744170 | single nucleotide variant | NM_000921.5(PDE3A):c.1847-20T>C | not provided [RCV005071640] | likely benign | 12 | 20634882 | 20634882 | Human | | name |
| 597959346 | CV3752281 | single nucleotide variant | NM_000921.5(PDE3A):c.2139+16A>T | not provided [RCV005081231] | likely benign | 12 | 20637253 | 20637253 | Human | | name |
| 150513119 | CV1211823 | single nucleotide variant | NM_000921.5(PDE3A):c.2565+136C>T | not provided [RCV001598344] | benign | 12 | 20647086 | 20647086 | Human | | name |
| 150443860 | CV1216550 | single nucleotide variant | NM_000921.5(PDE3A):c.2769+214T>G | not provided [RCV001610849] | benign | 12 | 20649105 | 20649105 | Human | | name |
| 150491297 | CV1222733 | single nucleotide variant | NM_000921.5(PDE3A):c.1846+110C>T | not provided [RCV001618795] | benign | 12 | 20633888 | 20633888 | Human | 3 | name |
| 150491297 | CV1222733 | single nucleotide variant | NM_000921.5(PDE3A):c.1846+110C>T | not provided [RCV001618795] | benign | 12 | 20633888 | 20633889 | Human | 3 | name |
| 150504380 | CV1223938 | microsatellite | NM_000921.5(PDE3A):c.-103CGTG[4] | not provided [RCV001621587] | benign | 12 | 20369180 | 20369181 | Human | | name |
| 150491489 | CV1225311 | single nucleotide variant | NM_000921.5(PDE3A):c.3184+218G>A | not provided [RCV001618826] | benign | 12 | 20654423 | 20654423 | Human | | name |
| 150515547 | CV1227593 | single nucleotide variant | NM_000921.5(PDE3A):c.1846+168C>T | not provided [RCV001638867] | benign | 12 | 20633946 | 20633946 | Human | | name |
| 150513272 | CV1228953 | single nucleotide variant | NM_000921.5(PDE3A):c.1540+119A>G | not provided [RCV001637795] | benign | 12 | 20621530 | 20621530 | Human | | name |
| 150472420 | CV1236337 | single nucleotide variant | NM_000921.5(PDE3A):c.1540+194A>G | not provided [RCV001651422] | benign | 12 | 20621605 | 20621605 | Human | | name |
| 150489299 | CV1237631 | single nucleotide variant | NM_000921.5(PDE3A):c.1269+257G>A | not provided [RCV001654480] | benign | 12 | 20613957 | 20613957 | Human | | name |
| 150480532 | CV1239598 | duplication | NM_000921.5(PDE3A):c.2925+228dup | not provided [RCV001652761] | benign | 12 | 20650823 | 20650824 | Human | | name |
| 150510043 | CV1248484 | single nucleotide variant | NM_000921.5(PDE3A):c.2566-188T>G | not provided [RCV001659552] | benign | 12 | 20648500 | 20648500 | Human | | name |
| 150457175 | CV1248750 | single nucleotide variant | NM_000921.5(PDE3A):c.2770-113G>A | not provided [RCV001668926] | benign | 12 | 20650332 | 20650332 | Human | | name |
| 150469145 | CV1249047 | single nucleotide variant | NM_000921.5(PDE3A):c.3184+314C>G | not provided [RCV001670808] | benign | 12 | 20654519 | 20654519 | Human | | name |
| 150447215 | CV1250794 | single nucleotide variant | NM_000921.5(PDE3A):c.2251+104G>A | not provided [RCV001667299] | benign | 12 | 20640061 | 20640061 | Human | | name |
| 150458276 | CV1259018 | single nucleotide variant | NM_000921.5(PDE3A):c.1425-145A>G | not provided [RCV001681737] | benign | 12 | 20621151 | 20621151 | Human | | name |
| 150451846 | CV1260311 | single nucleotide variant | NM_000921.5(PDE3A):c.2926-158A>G | not provided [RCV001680801] | benign | 12 | 20653789 | 20653789 | Human | | name |
| 150444491 | CV1278002 | single nucleotide variant | NM_000921.5(PDE3A):c.3185-108T>C | not provided [RCV001707145] | benign | 12 | 20679922 | 20679922 | Human | | name |
| 150503680 | CV1285805 | single nucleotide variant | NM_000921.5(PDE3A):c.1846+129T>C | not provided [RCV001719228] | benign | 12 | 20633907 | 20633907 | Human | | name |
| 150503818 | CV1285833 | single nucleotide variant | NM_000921.5(PDE3A):c.2139+187G>A | not provided [RCV001719256] | benign | 12 | 20637424 | 20637424 | Human | | name |
| 150503875 | CV1285844 | single nucleotide variant | NM_000921.5(PDE3A):c.1270-176C>T | not provided [RCV001719267] | benign | 12 | 20616054 | 20616054 | Human | | name |
| 8653802 | CV130377 | single nucleotide variant | NM_000921.4(PDE3A):c.961-46114G>A | Lung cancer [RCV000110864] | uncertain significance | 12 | 20510546 | 20510546 | Human | | name |
| 8653803 | CV130378 | single nucleotide variant | NM_000921.4(PDE3A):c.961-35559T>C | Lung cancer [RCV000110865] | uncertain significance | 12 | 20521101 | 20521101 | Human | | name |
| 8653804 | CV130379 | single nucleotide variant | NM_000921.4(PDE3A):c.961-22350G>T | Lung cancer [RCV000110866] | uncertain significance | 12 | 20534310 | 20534310 | Human | | name |
| 8653805 | CV130380 | single nucleotide variant | NM_000921.4(PDE3A):c.3185-5457T>C | Lung cancer [RCV000110867] | uncertain significance | 12 | 20674573 | 20674573 | Human | | name |
| 401929297 | CV2806783 | single nucleotide variant | NM_000921.5(PDE3A):c.3185-1606G>A | not provided [RCV003390189] | benign | 12 | 20678424 | 20678424 | Human | | name |
| 150433805 | CV1230630 | single nucleotide variant | NM_000921.5(PDE3A):c.1011+15147G>C | not provided [RCV001643576] | benign | 12 | 20571857 | 20571857 | Human | | name |
| 150492623 | CV1268281 | single nucleotide variant | NM_000921.5(PDE3A):c.1011+15344G>A | not provided [RCV001688013] | benign | 12 | 20572054 | 20572054 | Human | | name |
| 155984283 | CV1883854 | single nucleotide variant | NM_000921.5(PDE3A):c.24A>G (p.Ala8=) | PDE3A-related disorder [RCV003943768]|not provided [RCV003075812] | benign | 12 | 20369308 | 20369308 | Human | 1 | name , trait , alternate_id |
| 156039759 | CV2043972 | single nucleotide variant | NM_000921.5(PDE3A):c.5C>T (p.Ala2Val) | not provided [RCV002781446] | uncertain significance | 12 | 20369289 | 20369289 | Human | | name |
| 156105010 | CV2096376 | single nucleotide variant | NM_000921.5(PDE3A):c.246C>T (p.Arg82=) | not provided [RCV002913549] | likely benign | 12 | 20369530 | 20369530 | Human | | name |
| 405199590 | CV2877038 | single nucleotide variant | NM_000921.5(PDE3A):c.285G>A (p.Ala95=) | not provided [RCV003551253] | benign | 12 | 20369569 | 20369569 | Human | | name |
| 405775795 | CV3375203 | single nucleotide variant | NM_000921.5(PDE3A):c.25C>G (p.Arg9Gly) | Inborn genetic diseases [RCV004503079] | uncertain significance | 12 | 20369309 | 20369309 | Human | 1 | name |
| 597926259 | CV3840665 | single nucleotide variant | NM_000921.5(PDE3A):c.102C>T (p.Asp34=) | not provided [RCV005185136] | likely benign | 12 | 20369386 | 20369386 | Human | | name |
| 15197309 | CV725032 | single nucleotide variant | NM_000921.5(PDE3A):c.231G>A (p.Leu77=) | not provided [RCV000890021] | benign | 12 | 20369515 | 20369515 | Human | | name |
| 150514031 | CV1210824 | single nucleotide variant | NM_000921.5(PDE3A):c.34G>A (p.Asp12Asn) | not provided [RCV001598865] | benign | 12 | 20369318 | 20369318 | Human | | name |
| 152055303 | CV1590863 | single nucleotide variant | NM_000921.5(PDE3A):c.402G>T (p.Ala134=) | not provided [RCV002109463] | benign|likely benign | 12 | 20369686 | 20369686 | Human | | name |
| 156021987 | CV1899328 | single nucleotide variant | NM_000921.5(PDE3A):c.465G>A (p.Val155=) | not provided [RCV003100243] | likely benign | 12 | 20369749 | 20369749 | Human | | name |
| 156023450 | CV1899572 | single nucleotide variant | NM_000921.5(PDE3A):c.585C>T (p.Leu195=) | not provided [RCV003100311] | likely benign | 12 | 20369869 | 20369869 | Human | | name |
| 156328367 | CV1956572 | single nucleotide variant | NM_000921.5(PDE3A):c.876C>T (p.Ser292=) | not provided [RCV002579854] | likely benign | 12 | 20370160 | 20370160 | Human | | name |
| 156282186 | CV1964427 | deletion | NM_000921.5(PDE3A):c.1425-19_1425-16del | not provided [RCV002577514] | likely benign | 12 | 20621274 | 20621277 | Human | | name |
| 156142742 | CV2106151 | single nucleotide variant | NM_000921.5(PDE3A):c.459C>T (p.Ala153=) | not provided [RCV002928614] | likely benign | 12 | 20369743 | 20369743 | Human | | name |
| 156100820 | CV2117174 | single nucleotide variant | NM_000921.5(PDE3A):c.633C>T (p.Gly211=) | not provided [RCV002952734] | benign | 12 | 20369917 | 20369917 | Human | | name |
| 243057843 | CV2405935 | single nucleotide variant | NM_000921.5(PDE3A):c.507G>T (p.Gly169=) | Brachydactyly-arterial hypertension syndrome [RCV003134777] | uncertain significance | 12 | 20369791 | 20369791 | Human | 1 | name |
| 329393619 | CV2472004 | single nucleotide variant | NM_000921.5(PDE3A):c.91C>T (p.His31Tyr) | Inborn genetic diseases [RCV003218376] | uncertain significance | 12 | 20369375 | 20369375 | Human | 1 | name |
| 401723708 | CV2675050 | single nucleotide variant | NM_000921.5(PDE3A):c.46C>T (p.His16Tyr) | Inborn genetic diseases [RCV003245256] | uncertain significance | 12 | 20369330 | 20369330 | Human | 1 | name |
| 401745963 | CV2695474 | single nucleotide variant | NM_000921.5(PDE3A):c.80G>A (p.Arg27Gln) | Inborn genetic diseases [RCV003275608] | uncertain significance | 12 | 20369364 | 20369364 | Human | 1 | name |
| 401737925 | CV2714256 | single nucleotide variant | NM_000921.5(PDE3A):c.77G>A (p.Gly26Asp) | Inborn genetic diseases [RCV003273567] | uncertain significance | 12 | 20369361 | 20369361 | Human | 1 | name |
| 405236513 | CV2884646 | single nucleotide variant | NM_000921.5(PDE3A):c.73G>A (p.Ala25Thr) | not provided [RCV003556511] | uncertain significance | 12 | 20369357 | 20369357 | Human | | name |
| 405132570 | CV3051084 | single nucleotide variant | NM_000921.5(PDE3A):c.381C>T (p.Ser127=) | not provided [RCV003724834] | likely benign | 12 | 20369665 | 20369665 | Human | | name |
| 405126954 | CV3053623 | single nucleotide variant | NM_000921.5(PDE3A):c.507G>C (p.Gly169=) | PDE3A-related disorder [RCV003939159]|not provided [RCV003724463] | benign|likely benign | 12 | 20369791 | 20369791 | Human | 1 | name , trait , alternate_id |
| 405194449 | CV3167659 | single nucleotide variant | NM_000921.5(PDE3A):c.324A>G (p.Glu108=) | not provided [RCV003860065] | likely benign | 12 | 20369608 | 20369608 | Human | | name |
| 597703334 | CV3713971 | single nucleotide variant | NM_000921.5(PDE3A):c.94C>A (p.Arg32Ser) | Brachydactyly-arterial hypertension syndrome [RCV005008994] | uncertain significance | 12 | 20369378 | 20369378 | Human | 1 | name |
| 597831522 | CV3759777 | single nucleotide variant | NM_000921.5(PDE3A):c.490C>T (p.Leu164=) | not provided [RCV005084715] | likely benign | 12 | 20369774 | 20369774 | Human | | name |
| 597974476 | CV3801806 | single nucleotide variant | NM_000921.5(PDE3A):c.40C>T (p.Pro14Ser) | not provided [RCV005143795] | uncertain significance | 12 | 20369324 | 20369324 | Human | | name |
| 597861573 | CV3822526 | single nucleotide variant | NM_000921.5(PDE3A):c.475C>T (p.Leu159=) | not provided [RCV005175056] | likely benign | 12 | 20369759 | 20369759 | Human | | name |
| 597954207 | CV3844367 | single nucleotide variant | NM_000921.5(PDE3A):c.388C>T (p.Leu130=) | not provided [RCV005191040] | likely benign | 12 | 20369672 | 20369672 | Human | | name |
| 598209032 | CV4007814 | single nucleotide variant | NM_000921.5(PDE3A):c.41C>A (p.Pro14His) | Brachydactyly-arterial hypertension syndrome [RCV005400128] | uncertain significance | 12 | 20369325 | 20369325 | Human | 1 | name |
| 15172855 | CV713471 | single nucleotide variant | NM_000921.5(PDE3A):c.660G>T (p.Ala220=) | PDE3A-related disorder [RCV003943220]|not provided [RCV000972496] | benign | 12 | 20369944 | 20369944 | Human | 1 | name , trait , alternate_id |
| 15197511 | CV725033 | single nucleotide variant | NM_000921.5(PDE3A):c.318A>G (p.Gly106=) | not provided [RCV000890078] | benign | 12 | 20369602 | 20369602 | Human | | name |
| 15103664 | CV753291 | single nucleotide variant | NM_000921.5(PDE3A):c.732C>T (p.Ala244=) | not provided [RCV000915207] | likely benign | 12 | 20370016 | 20370016 | Human | | name |
| 15112495 | CV784352 | single nucleotide variant | NM_000921.5(PDE3A):c.519C>A (p.Leu173=) | not provided [RCV000977830] | likely benign | 12 | 20369803 | 20369803 | Human | | name |
| 15120053 | CV784353 | single nucleotide variant | NM_000921.5(PDE3A):c.792G>A (p.Glu264=) | not provided [RCV000979223] | likely benign | 12 | 20370076 | 20370076 | Human | | name |
| 150475654 | CV1216697 | single nucleotide variant | NM_000921.5(PDE3A):c.1194C>T (p.Val398=) | Brachydactyly-arterial hypertension syndrome [RCV001788608]|not provided [RCV001615990] | benign | 12 | 20613625 | 20613625 | Human | 1 | name |
| 151775482 | CV1402585 | single nucleotide variant | NM_000921.5(PDE3A):c.293C>G (p.Ala98Gly) | not provided [RCV001929937] | uncertain significance | 12 | 20369577 | 20369577 | Human | | name |
| 151749366 | CV1460532 | single nucleotide variant | NM_000921.5(PDE3A):c.141G>A (p.Trp47Ter) | not provided [RCV001894170] | uncertain significance | 12 | 20369425 | 20369425 | Human | | name |
| 151876408 | CV1484312 | duplication | NM_000921.5(PDE3A):c.511dup (p.Glu171fs) | not provided [RCV001981955] | uncertain significance | 12 | 20369788 | 20369789 | Human | | name |
| 152165720 | CV1536778 | single nucleotide variant | NM_000921.5(PDE3A):c.2508C>T (p.His836=) | not provided [RCV002160504] | likely benign | 12 | 20646893 | 20646893 | Human | | name |
| 152165071 | CV1611260 | single nucleotide variant | NM_000921.5(PDE3A):c.2073T>C (p.Thr691=) | not provided [RCV002141648] | likely benign | 12 | 20637171 | 20637171 | Human | | name |
| 152125736 | CV1630289 | single nucleotide variant | NM_000921.5(PDE3A):c.1080C>G (p.Leu360=) | not provided [RCV002154846] | likely benign | 12 | 20613511 | 20613511 | Human | | name |
| 152112673 | CV1640641 | single nucleotide variant | NM_000921.5(PDE3A):c.2580C>T (p.Asn860=) | not provided [RCV002174531] | benign | 12 | 20648702 | 20648702 | Human | | name |
| 156251412 | CV1887179 | single nucleotide variant | NM_000921.5(PDE3A):c.1044C>T (p.Ala348=) | not provided [RCV003086116] | likely benign | 12 | 20613475 | 20613475 | Human | | name |
| 156267410 | CV1919017 | single nucleotide variant | NM_000921.5(PDE3A):c.2049C>T (p.Asp683=) | not provided [RCV002627977] | likely benign | 12 | 20637147 | 20637147 | Human | | name |
| 156231761 | CV1965704 | single nucleotide variant | NM_000921.5(PDE3A):c.2172C>G (p.Leu724=) | not provided [RCV002596836] | likely benign | 12 | 20639878 | 20639878 | Human | | name |
| 156327861 | CV1982364 | single nucleotide variant | NM_000921.5(PDE3A):c.200C>T (p.Ala67Val) | not provided [RCV002649657] | uncertain significance | 12 | 20369484 | 20369484 | Human | | name |
| 156099161 | CV2004828 | single nucleotide variant | NM_000921.5(PDE3A):c.2748C>T (p.Phe916=) | not provided [RCV002639515] | likely benign | 12 | 20648870 | 20648870 | Human | | name |
| 156003531 | CV2106910 | single nucleotide variant | NM_000921.5(PDE3A):c.293C>A (p.Ala98Glu) | not provided [RCV002947903] | uncertain significance | 12 | 20369577 | 20369577 | Human | | name |
| 156230093 | CV2235024 | single nucleotide variant | NM_000921.5(PDE3A):c.103C>T (p.Pro35Ser) | Inborn genetic diseases [RCV002767596] | uncertain significance | 12 | 20369387 | 20369387 | Human | 1 | name |
| 156093199 | CV2309912 | single nucleotide variant | NM_000921.5(PDE3A):c.242T>C (p.Val81Ala) | Inborn genetic diseases [RCV002888150] | uncertain significance | 12 | 20369526 | 20369526 | Human | 1 | name |
| 329352941 | CV2468048 | single nucleotide variant | NM_000921.5(PDE3A):c.169A>G (p.Ser57Gly) | Inborn genetic diseases [RCV003200872] | uncertain significance | 12 | 20369453 | 20369453 | Human | 1 | name |
| 405020168 | CV2866250 | single nucleotide variant | NM_000921.5(PDE3A):c.1797T>C (p.Asp599=) | not provided [RCV003577503] | likely benign | 12 | 20633729 | 20633729 | Human | | name |
| 402498151 | CV2871686 | single nucleotide variant | NM_000921.5(PDE3A):c.269A>G (p.Glu90Gly) | Inborn genetic diseases [RCV004369026]|PDE3A-related disorder [RCV003954234]|not provided [RCV003545602] | likely benign|uncertain significance | 12 | 20369553 | 20369553 | Human | 2 | name , trait , alternate_id |
| 405126780 | CV3053583 | single nucleotide variant | NM_000921.5(PDE3A):c.1962G>A (p.Ser654=) | not provided [RCV003724447] | likely benign | 12 | 20635017 | 20635017 | Human | | name |
| 405173800 | CV3150496 | single nucleotide variant | NM_000921.5(PDE3A):c.2427G>A (p.Val809=) | not provided [RCV003841770] | likely benign | 12 | 20646812 | 20646812 | Human | | name |
| 405270238 | CV3187658 | single nucleotide variant | NM_000921.5(PDE3A):c.212C>G (p.Ser71Cys) | not provided [RCV003887742] | uncertain significance | 12 | 20369496 | 20369496 | Human | | name |
| 405291816 | CV3207704 | single nucleotide variant | NM_000921.5(PDE3A):c.1338G>C (p.Ser446=) | PDE3A-related disorder [RCV003929398] | likely benign | 12 | 20616298 | 20616298 | Human | | name , trait , alternate_id |
| 405775790 | CV3375202 | single nucleotide variant | NM_000921.5(PDE3A):c.230T>A (p.Leu77Gln) | Inborn genetic diseases [RCV004503078] | uncertain significance | 12 | 20369514 | 20369514 | Human | 1 | name |
| 597705761 | CV3568778 | single nucleotide variant | NM_000921.5(PDE3A):c.281A>G (p.Glu94Gly) | Inborn genetic diseases [RCV004957185] | uncertain significance | 12 | 20369565 | 20369565 | Human | 1 | name |
| 597705014 | CV3568787 | single nucleotide variant | NM_000921.5(PDE3A):c.137G>T (p.Cys46Phe) | Inborn genetic diseases [RCV004957194] | uncertain significance | 12 | 20369421 | 20369421 | Human | 1 | name |
| 597705022 | CV3568788 | single nucleotide variant | NM_000921.5(PDE3A):c.104C>T (p.Pro35Leu) | Inborn genetic diseases [RCV004957195] | uncertain significance | 12 | 20369388 | 20369388 | Human | 1 | name |
| 597705057 | CV3568792 | single nucleotide variant | NM_000921.5(PDE3A):c.248G>A (p.Gly83Glu) | Inborn genetic diseases [RCV004957199] | uncertain significance | 12 | 20369532 | 20369532 | Human | 1 | name |
| 597848317 | CV3736765 | single nucleotide variant | NM_000921.5(PDE3A):c.295G>A (p.Glu99Lys) | not provided [RCV005065924] | uncertain significance | 12 | 20369579 | 20369579 | Human | | name |
| 597876302 | CV3747846 | single nucleotide variant | NM_000921.5(PDE3A):c.2853C>A (p.Ile951=) | not provided [RCV005069337] | likely benign | 12 | 20650528 | 20650528 | Human | | name |
| 597891061 | CV3805057 | single nucleotide variant | NM_000921.5(PDE3A):c.1032T>C (p.Thr344=) | not provided [RCV005151319] | likely benign | 12 | 20613463 | 20613463 | Human | | name |
| 598166766 | CV4006216 | single nucleotide variant | NM_000921.5(PDE3A):c.178A>C (p.Lys60Gln) | Inborn genetic diseases [RCV005391431] | uncertain significance | 12 | 20369462 | 20369462 | Human | 1 | name |
| 598166760 | CV4006217 | single nucleotide variant | NM_000921.5(PDE3A):c.176G>A (p.Arg59Gln) | Inborn genetic diseases [RCV005391432] | uncertain significance | 12 | 20369460 | 20369460 | Human | 1 | name |
| 598166731 | CV4006222 | single nucleotide variant | NM_000921.5(PDE3A):c.239T>C (p.Leu80Pro) | Inborn genetic diseases [RCV005391437] | uncertain significance | 12 | 20369523 | 20369523 | Human | 1 | name |
| 15101419 | CV702269 | single nucleotide variant | NM_000921.5(PDE3A):c.296A>C (p.Glu99Ala) | not provided [RCV000959086] | benign|likely benign | 12 | 20369580 | 20369580 | Human | | name |
| 15117681 | CV713474 | single nucleotide variant | NM_000921.5(PDE3A):c.2568G>C (p.Ala856=) | PDE3A-related disorder [RCV003943115]|not provided [RCV000962245] | benign | 12 | 20648690 | 20648690 | Human | 1 | name , trait , alternate_id |
| 15158011 | CV725035 | single nucleotide variant | NM_000921.5(PDE3A):c.1512T>C (p.His504=) | PDE3A-related disorder [RCV003910382]|not provided [RCV000880927] | benign | 12 | 20621383 | 20621383 | Human | 1 | name , trait , alternate_id |
| 15178541 | CV725036 | single nucleotide variant | NM_000921.5(PDE3A):c.2742T>C (p.Phe914=) | not provided [RCV000885085] | benign | 12 | 20648864 | 20648864 | Human | | name |
| 15100098 | CV753292 | single nucleotide variant | NM_000921.5(PDE3A):c.1779C>T (p.Ser593=) | not provided [RCV000914556] | benign | 12 | 20633711 | 20633711 | Human | | name |
| 15112829 | CV753293 | single nucleotide variant | NM_000921.5(PDE3A):c.2775T>C (p.Asn925=) | not provided [RCV000916984] | likely benign | 12 | 20650450 | 20650450 | Human | | name |
| 150512086 | CV1228420 | microsatellite | NM_000921.5(PDE3A):c.3185-119_3185-117del | not provided [RCV001637552] | benign | 12 | 20679908 | 20679910 | Human | | name |
| 150503078 | CV1257707 | deletion | NM_000921.5(PDE3A):c.3185-166_3185-111del | not provided [RCV001677395] | benign | 12 | 20679864 | 20679919 | Human | | name |
| 151757822 | CV1475238 | single nucleotide variant | NM_000921.5(PDE3A):c.973T>C (p.Ser325Pro) | Inborn genetic diseases [RCV002562825]|not provided [RCV001969845] | uncertain significance | 12 | 20556672 | 20556672 | Human | 1 | name |
| 152033798 | CV1573049 | single nucleotide variant | NM_000921.5(PDE3A):c.505G>T (p.Gly169Trp) | PDE3A-related disorder [RCV003978534]|not provided [RCV002187154] | likely benign | 12 | 20369789 | 20369789 | Human | 1 | name , trait , alternate_id |
| 152114036 | CV1624041 | single nucleotide variant | NM_000921.5(PDE3A):c.3090C>T (p.Ser1030=) | not provided [RCV002134862] | benign | 12 | 20654111 | 20654111 | Human | | name |
| 155266476 | CV1699042 | single nucleotide variant | NM_000921.5(PDE3A):c.905G>A (p.Gly302Asp) | not provided [RCV005096027]|not specified [RCV002282836] | uncertain significance | 12 | 20370189 | 20370189 | Human | | name |
| 156004128 | CV2057639 | single nucleotide variant | NM_000921.5(PDE3A):c.3234C>T (p.His1078=) | not provided [RCV002819794] | uncertain significance | 12 | 20680079 | 20680079 | Human | | name |
| 156099302 | CV2087915 | single nucleotide variant | NM_000921.5(PDE3A):c.875C>G (p.Ser292Cys) | not provided [RCV002848021] | uncertain significance | 12 | 20370159 | 20370159 | Human | | name |
| 156000126 | CV2106708 | single nucleotide variant | NM_000921.5(PDE3A):c.617T>C (p.Leu206Pro) | not provided [RCV002947745] | likely benign|uncertain significance | 12 | 20369901 | 20369901 | Human | | name |
| 156203253 | CV2110152 | single nucleotide variant | NM_000921.5(PDE3A):c.3012C>T (p.Phe1004=) | not provided [RCV002957459] | benign | 12 | 20654033 | 20654033 | Human | | name |
| 155900774 | CV2126902 | single nucleotide variant | NM_000921.5(PDE3A):c.506G>C (p.Gly169Ala) | Inborn genetic diseases [RCV002949664]|not provided [RCV002967403] | uncertain significance | 12 | 20369790 | 20369790 | Human | 1 | name |
| 155998871 | CV2153111 | single nucleotide variant | NM_000921.5(PDE3A):c.577G>C (p.Val193Leu) | not provided [RCV002996922] | uncertain significance | 12 | 20369861 | 20369861 | Human | | name |
| 156347634 | CV2172780 | single nucleotide variant | NM_000921.5(PDE3A):c.718C>G (p.Leu240Val) | not provided [RCV003030646] | uncertain significance | 12 | 20370002 | 20370002 | Human | | name |
| 155974642 | CV2211192 | single nucleotide variant | NM_000921.5(PDE3A):c.661G>A (p.Val221Ile) | Inborn genetic diseases [RCV002687809] | uncertain significance | 12 | 20369945 | 20369945 | Human | 1 | name |
| 156035506 | CV2246785 | single nucleotide variant | NM_000921.5(PDE3A):c.846T>A (p.Asp282Glu) | Inborn genetic diseases [RCV002758377] | likely benign | 12 | 20370130 | 20370130 | Human | 1 | name |
| 156001206 | CV2257829 | single nucleotide variant | NM_000921.5(PDE3A):c.609G>T (p.Trp203Cys) | Inborn genetic diseases [RCV002794530] | uncertain significance | 12 | 20369893 | 20369893 | Human | 1 | name |
| 156110027 | CV2261557 | single nucleotide variant | NM_000921.5(PDE3A):c.703G>T (p.Ala235Ser) | Inborn genetic diseases [RCV002799667] | uncertain significance | 12 | 20369987 | 20369987 | Human | 1 | name |
| 156178129 | CV2298270 | single nucleotide variant | NM_000921.5(PDE3A):c.596C>T (p.Ala199Val) | Inborn genetic diseases [RCV002891806] | uncertain significance | 12 | 20369880 | 20369880 | Human | 1 | name |
| 156155401 | CV2314295 | single nucleotide variant | NM_000921.5(PDE3A):c.782A>G (p.Gln261Arg) | Inborn genetic diseases [RCV002915645] | uncertain significance | 12 | 20370066 | 20370066 | Human | 1 | name |
| 156169872 | CV2315487 | single nucleotide variant | NM_000921.5(PDE3A):c.920C>T (p.Ser307Phe) | Inborn genetic diseases [RCV002916493] | uncertain significance | 12 | 20370204 | 20370204 | Human | 1 | name |
| 156281054 | CV2338436 | single nucleotide variant | NM_000921.5(PDE3A):c.438G>A (p.Met146Ile) | Inborn genetic diseases [RCV002960956] | uncertain significance | 12 | 20369722 | 20369722 | Human | 1 | name |
| 156188658 | CV2375407 | single nucleotide variant | NM_000921.5(PDE3A):c.695T>A (p.Phe232Tyr) | Inborn genetic diseases [RCV002699816] | uncertain significance | 12 | 20369979 | 20369979 | Human | 1 | name |
| 329401973 | CV2467707 | single nucleotide variant | NM_000921.5(PDE3A):c.787G>A (p.Ala263Thr) | Inborn genetic diseases [RCV003221170] | uncertain significance | 12 | 20370071 | 20370071 | Human | 1 | name |
| 401722993 | CV2677162 | single nucleotide variant | NM_000921.5(PDE3A):c.640A>G (p.Met214Val) | Inborn genetic diseases [RCV003245031] | uncertain significance | 12 | 20369924 | 20369924 | Human | 1 | name |
| 401772150 | CV2708150 | single nucleotide variant | NM_000921.5(PDE3A):c.569C>T (p.Ala190Val) | Inborn genetic diseases [RCV003261741] | uncertain significance | 12 | 20369853 | 20369853 | Human | 1 | name |
| 401861967 | CV2766524 | single nucleotide variant | NM_000921.5(PDE3A):c.575G>A (p.Gly192Glu) | Inborn genetic diseases [RCV003342983] | uncertain significance | 12 | 20369859 | 20369859 | Human | 1 | name |
| 401864309 | CV2767870 | single nucleotide variant | NM_000921.5(PDE3A):c.593T>G (p.Leu198Trp) | Inborn genetic diseases [RCV003359318] | uncertain significance | 12 | 20369877 | 20369877 | Human | 1 | name |
| 401882014 | CV2784932 | single nucleotide variant | NM_000921.5(PDE3A):c.838A>C (p.Lys280Gln) | Inborn genetic diseases [RCV003365130] | uncertain significance | 12 | 20370122 | 20370122 | Human | 1 | name |
| 401892400 | CV2785395 | single nucleotide variant | NM_000921.5(PDE3A):c.458C>T (p.Ala153Val) | Inborn genetic diseases [RCV003369977] | uncertain significance | 12 | 20369742 | 20369742 | Human | 1 | name |
| 401905886 | CV2804664 | single nucleotide variant | NM_000921.5(PDE3A):c.454C>A (p.Arg152Ser) | PDE3A-related disorder [RCV003420939] | uncertain significance | 12 | 20369738 | 20369738 | Human | | name , trait , alternate_id |
| 405022447 | CV2877523 | single nucleotide variant | NM_000921.5(PDE3A):c.3378A>G (p.Lys1126=) | not provided [RCV003577719] | likely benign | 12 | 20680223 | 20680223 | Human | | name |
| 405166777 | CV2902207 | single nucleotide variant | NM_000921.5(PDE3A):c.761A>G (p.Tyr254Cys) | PDE3A-related disorder [RCV003939113]|not provided [RCV003562747] | benign|likely benign | 12 | 20370045 | 20370045 | Human | 1 | name , trait , alternate_id |
| 402467590 | CV2910448 | single nucleotide variant | NM_000921.5(PDE3A):c.3336T>C (p.Ser1112=) | not provided [RCV003569653] | likely benign | 12 | 20680181 | 20680181 | Human | | name |
| 405080865 | CV3046640 | single nucleotide variant | NM_000921.5(PDE3A):c.506G>T (p.Gly169Val) | Inborn genetic diseases [RCV004953433]|not provided [RCV003717125]|not specified [RCV005407228] | likely benign|uncertain significance | 12 | 20369790 | 20369790 | Human | 1 | name |
| 405088184 | CV3047853 | single nucleotide variant | NM_000921.5(PDE3A):c.419T>A (p.Leu140Gln) | not provided [RCV003717546] | uncertain significance | 12 | 20369703 | 20369703 | Human | | name |
| 405147182 | CV3067328 | single nucleotide variant | NM_000921.5(PDE3A):c.803G>A (p.Arg268Lys) | not provided [RCV003726146] | uncertain significance | 12 | 20370087 | 20370087 | Human | | name |
| 405154579 | CV3068782 | single nucleotide variant | NM_000921.5(PDE3A):c.3267C>G (p.Val1089=) | not provided [RCV003726654] | likely benign | 12 | 20680112 | 20680112 | Human | | name |
| 405168126 | CV3122298 | single nucleotide variant | NM_000921.5(PDE3A):c.340G>A (p.Gly114Arg) | not provided [RCV003818887] | uncertain significance | 12 | 20369624 | 20369624 | Human | | name |
| 405080737 | CV3137197 | single nucleotide variant | NM_000921.5(PDE3A):c.946A>G (p.Ile316Val) | not provided [RCV003834096] | uncertain significance | 12 | 20370230 | 20370230 | Human | | name |
| 405775806 | CV3375205 | single nucleotide variant | NM_000921.5(PDE3A):c.311C>T (p.Ala104Val) | Inborn genetic diseases [RCV004503081] | uncertain significance | 12 | 20369595 | 20369595 | Human | 1 | name |
| 405775831 | CV3375209 | single nucleotide variant | NM_000921.5(PDE3A):c.344C>G (p.Pro115Arg) | Inborn genetic diseases [RCV004503085] | uncertain significance | 12 | 20369628 | 20369628 | Human | 1 | name |
| 405775842 | CV3375211 | single nucleotide variant | NM_000921.5(PDE3A):c.931A>G (p.Thr311Ala) | Inborn genetic diseases [RCV004503087] | uncertain significance | 12 | 20370215 | 20370215 | Human | 1 | name |
| 407524009 | CV3460170 | single nucleotide variant | NM_000921.5(PDE3A):c.673T>C (p.Ser225Pro) | Inborn genetic diseases [RCV004653498] | uncertain significance | 12 | 20369957 | 20369957 | Human | 1 | name |
| 407524011 | CV3460171 | single nucleotide variant | NM_000921.5(PDE3A):c.634G>C (p.Val212Leu) | Inborn genetic diseases [RCV004653499] | uncertain significance | 12 | 20369918 | 20369918 | Human | 1 | name |
| 407524013 | CV3460174 | single nucleotide variant | NM_000921.5(PDE3A):c.494C>A (p.Ala165Asp) | Inborn genetic diseases [RCV004653500] | uncertain significance | 12 | 20369778 | 20369778 | Human | 1 | name |
| 407463339 | CV3460176 | single nucleotide variant | NM_000921.5(PDE3A):c.970C>A (p.His324Asn) | Inborn genetic diseases [RCV004659657] | uncertain significance | 12 | 20556669 | 20556669 | Human | 1 | name |
| 407501356 | CV3495591 | single nucleotide variant | NM_000921.5(PDE3A):c.401C>T (p.Ala134Val) | not provided [RCV004697431] | uncertain significance | 12 | 20369685 | 20369685 | Human | | name |
| 596948204 | CV3549285 | single nucleotide variant | NM_000921.5(PDE3A):c.710G>A (p.Arg237Lys) | not provided [RCV004812105] | uncertain significance | 12 | 20369994 | 20369994 | Human | | name |
| 597705774 | CV3568776 | single nucleotide variant | NM_000921.5(PDE3A):c.343C>T (p.Pro115Ser) | Inborn genetic diseases [RCV004957183] | uncertain significance | 12 | 20369627 | 20369627 | Human | 1 | name |
| 597705730 | CV3568782 | single nucleotide variant | NM_000921.5(PDE3A):c.958C>G (p.Gln320Glu) | Inborn genetic diseases [RCV004957189] | uncertain significance | 12 | 20370242 | 20370242 | Human | 1 | name |
| 597705722 | CV3568783 | single nucleotide variant | NM_000921.5(PDE3A):c.736G>C (p.Val246Leu) | Inborn genetic diseases [RCV004957190] | uncertain significance | 12 | 20370020 | 20370020 | Human | 1 | name |
| 597705048 | CV3568791 | single nucleotide variant | NM_000921.5(PDE3A):c.643A>G (p.Ile215Val) | Inborn genetic diseases [RCV004957198] | uncertain significance | 12 | 20369927 | 20369927 | Human | 1 | name |
| 597705068 | CV3568794 | single nucleotide variant | NM_000921.5(PDE3A):c.413G>C (p.Ser138Thr) | Inborn genetic diseases [RCV004957201] | uncertain significance | 12 | 20369697 | 20369697 | Human | 1 | name |
| 597943512 | CV3812353 | single nucleotide variant | NM_000921.5(PDE3A):c.717C>G (p.Tyr239Ter) | not provided [RCV005159563] | uncertain significance | 12 | 20370001 | 20370001 | Human | | name |
| 597934032 | CV3844801 | single nucleotide variant | NM_000921.5(PDE3A):c.3339A>G (p.Ser1113=) | not provided [RCV005186307] | benign | 12 | 20680184 | 20680184 | Human | | name |
| 598166742 | CV4006220 | single nucleotide variant | NM_000921.5(PDE3A):c.542G>C (p.Gly181Ala) | Inborn genetic diseases [RCV005391435] | uncertain significance | 12 | 20369826 | 20369826 | Human | 1 | name |
| 15198767 | CV725034 | single nucleotide variant | NM_000921.5(PDE3A):c.578T>C (p.Val193Ala) | not provided [RCV000890451] | benign|likely benign | 12 | 20369862 | 20369862 | Human | | name |
| 15144586 | CV738583 | single nucleotide variant | NM_000921.5(PDE3A):c.3174T>C (p.Asn1058=) | not provided [RCV000900026] | benign | 12 | 20654195 | 20654195 | Human | | name |
| 15152458 | CV753294 | single nucleotide variant | NM_000921.5(PDE3A):c.3237C>G (p.Leu1079=) | not provided [RCV000923876] | likely benign | 12 | 20680082 | 20680082 | Human | | name |
| 126912261 | CV1038141 | single nucleotide variant | NM_000921.5(PDE3A):c.1450A>T (p.Met484Leu) | not provided [RCV001356330] | uncertain significance | 12 | 20621321 | 20621321 | Human | | name |
| 126913540 | CV1038142 | single nucleotide variant | NM_000921.5(PDE3A):c.1657A>G (p.Thr553Ala) | not provided [RCV001357457] | uncertain significance | 12 | 20630024 | 20630024 | Human | | name |
| 150474612 | CV1234477 | insertion | NM_000921.5(PDE3A):c.3185-109_3185-108insC | not provided [RCV001651797] | benign | 12 | 20679921 | 20679922 | Human | | name |
| 150528607 | CV1288403 | single nucleotide variant | NM_000921.5(PDE3A):c.2551A>G (p.Thr851Ala) | not provided [RCV001726871] | likely pathogenic | 12 | 20646936 | 20646936 | Human | | name |
| 152131162 | CV1523707 | single nucleotide variant | NM_000921.5(PDE3A):c.1512T>A (p.His504Gln) | PDE3A-related disorder [RCV003913748]|not provided [RCV002136934] | benign|likely benign | 12 | 20621383 | 20621383 | Human | 1 | name , trait , alternate_id |
| 152030393 | CV1622165 | single nucleotide variant | NM_000921.5(PDE3A):c.2119T>C (p.Cys707Arg) | not provided [RCV002186458] | benign | 12 | 20637217 | 20637217 | Human | | name |
| 10049295 | CV190181 | single nucleotide variant | NM_000921.5(PDE3A):c.1334C>A (p.Thr445Asn) | Brachydactyly-arterial hypertension syndrome [RCV000173038] | pathogenic | 12 | 20616294 | 20616294 | Human | 1 | name |
| 10049296 | CV190182 | single nucleotide variant | NM_000921.5(PDE3A):c.1333A>G (p.Thr445Ala) | Brachydactyly-arterial hypertension syndrome [RCV000173039] | pathogenic | 12 | 20616293 | 20616293 | Human | 1 | name |
| 10047448 | CV190183 | single nucleotide variant | NM_000921.5(PDE3A):c.1334C>G (p.Thr445Ser) | Brachydactyly-arterial hypertension syndrome [RCV000173040] | pathogenic | 12 | 20616294 | 20616294 | Human | 1 | name |
| 10049297 | CV190184 | single nucleotide variant | NM_000921.5(PDE3A):c.1339G>A (p.Ala447Thr) | Brachydactyly-arterial hypertension syndrome [RCV000173041]|Inborn genetic diseases [RCV001265739] | pathogenic | 12 | 20616299 | 20616299 | Human | 2 | name |
| 10049298 | CV190185 | single nucleotide variant | NM_000921.5(PDE3A):c.1340C>T (p.Ala447Val) | Brachydactyly-arterial hypertension syndrome [RCV000173042] | pathogenic | 12 | 20616300 | 20616300 | Human | 1 | name |
| 10049299 | CV190186 | single nucleotide variant | NM_000921.5(PDE3A):c.1346G>T (p.Gly449Val) | Brachydactyly-arterial hypertension syndrome [RCV000173043]|not provided [RCV003556219] | pathogenic | 12 | 20616306 | 20616306 | Human | 1 | name |
| 156418672 | CV1922475 | single nucleotide variant | NM_000921.5(PDE3A):c.1289C>T (p.Pro430Leu) | Brachydactyly-arterial hypertension syndrome [RCV005399133]|Inborn genetic diseases [RCV003161985]|not provided [RCV002611873] | uncertain significance | 12 | 20616249 | 20616249 | Human | 2 | name |
| 156287242 | CV1929806 | single nucleotide variant | NM_000921.5(PDE3A):c.2420A>G (p.Tyr807Cys) | not provided [RCV002628667] | likely benign|uncertain significance | 12 | 20646805 | 20646805 | Human | | name |
| 156257349 | CV1957101 | single nucleotide variant | NM_000921.5(PDE3A):c.1271G>A (p.Arg424His) | not provided [RCV002576729] | uncertain significance | 12 | 20616231 | 20616231 | Human | | name |
| 156021456 | CV2105738 | single nucleotide variant | NM_000921.5(PDE3A):c.1898G>T (p.Ser633Ile) | Inborn genetic diseases [RCV002923084]|not provided [RCV002923085] | uncertain significance | 12 | 20634953 | 20634953 | Human | 1 | name |
| 156239917 | CV2203700 | single nucleotide variant | NM_000921.5(PDE3A):c.2053A>G (p.Ile685Val) | Inborn genetic diseases [RCV002645494]|not provided [RCV004546770] | likely benign|uncertain significance | 12 | 20637151 | 20637151 | Human | 1 | name |
| 10767386 | CV221036 | single nucleotide variant | NM_000921.5(PDE3A):c.2832G>C (p.Met944Ile) | Prostate cancer [RCV000204616] | uncertain significance | 12 | 20650507 | 20650507 | Human | 2 | name |
| 156140119 | CV2246993 | single nucleotide variant | NM_000921.5(PDE3A):c.1025G>A (p.Ser342Asn) | Inborn genetic diseases [RCV002763477] | uncertain significance | 12 | 20613456 | 20613456 | Human | 1 | name |
| 156291491 | CV2306086 | single nucleotide variant | NM_000921.5(PDE3A):c.1828C>T (p.Arg610Trp) | Inborn genetic diseases [RCV002897212] | uncertain significance | 12 | 20633760 | 20633760 | Human | 1 | name |
| 156043980 | CV2307966 | single nucleotide variant | NM_000921.5(PDE3A):c.1493C>A (p.Ala498Asp) | Inborn genetic diseases [RCV002910809] | uncertain significance | 12 | 20621364 | 20621364 | Human | 1 | name |
| 156202441 | CV2313220 | single nucleotide variant | NM_000921.5(PDE3A):c.1177C>A (p.Pro393Thr) | Inborn genetic diseases [RCV002893221] | uncertain significance | 12 | 20613608 | 20613608 | Human | 1 | name |
| 155970966 | CV2392398 | single nucleotide variant | NM_000921.5(PDE3A):c.1192G>A (p.Val398Ile) | Inborn genetic diseases [RCV002754882] | uncertain significance | 12 | 20613623 | 20613623 | Human | 1 | name |
| 243055114 | CV2405934 | single nucleotide variant | NM_000921.5(PDE3A):c.1903G>C (p.Asp635His) | Brachydactyly-arterial hypertension syndrome [RCV003131891] | uncertain significance | 12 | 20634958 | 20634958 | Human | 1 | name |
| 329361853 | CV2448096 | single nucleotide variant | NM_000921.5(PDE3A):c.1133G>A (p.Ser378Asn) | Inborn genetic diseases [RCV003180638] | uncertain significance | 12 | 20613564 | 20613564 | Human | 1 | name |
| 329954078 | CV2669404 | single nucleotide variant | NM_000921.5(PDE3A):c.1358T>G (p.Leu453Trp) | not provided [RCV003231912] | uncertain significance | 12 | 20616318 | 20616318 | Human | | name |
| 401757374 | CV2692961 | single nucleotide variant | NM_000921.5(PDE3A):c.1394G>A (p.Ser465Asn) | Inborn genetic diseases [RCV003256020] | uncertain significance | 12 | 20616354 | 20616354 | Human | 1 | name |
| 401777848 | CV2734242 | single nucleotide variant | NM_000921.5(PDE3A):c.1943A>T (p.Glu648Val) | Brachydactyly-arterial hypertension syndrome [RCV005399320]|Inborn genetic diseases [RCV003306537] | uncertain significance | 12 | 20634998 | 20634998 | Human | 2 | name |
| 401894697 | CV2785195 | single nucleotide variant | NM_000921.5(PDE3A):c.1157C>A (p.Thr386Asn) | Inborn genetic diseases [RCV003371781] | uncertain significance | 12 | 20613588 | 20613588 | Human | 1 | name |
| 401924573 | CV2804963 | single nucleotide variant | NM_000921.5(PDE3A):c.1801C>T (p.Pro601Ser) | not specified [RCV003404782] | uncertain significance | 12 | 20633733 | 20633733 | Human | | name |
| 401906005 | CV2806781 | single nucleotide variant | NM_000921.5(PDE3A):c.1253A>G (p.Lys418Arg) | not provided [RCV003396267] | uncertain significance | 12 | 20613684 | 20613684 | Human | | name |
| 401906006 | CV2806782 | single nucleotide variant | NM_000921.5(PDE3A):c.2455G>C (p.Gly819Arg) | not provided [RCV003396268] | uncertain significance | 12 | 20646840 | 20646840 | Human | | name |
| 401916961 | CV2829588 | single nucleotide variant | NM_000921.5(PDE3A):c.1182A>C (p.Arg394Ser) | not provided [RCV003443632] | uncertain significance | 12 | 20613613 | 20613613 | Human | | name |
| 401964222 | CV2843562 | single nucleotide variant | NM_000921.5(PDE3A):c.1955A>C (p.Lys652Thr) | not specified [RCV003479905] | uncertain significance | 12 | 20635010 | 20635010 | Human | | name |
| 405157957 | CV2961065 | single nucleotide variant | NM_000921.5(PDE3A):c.2584C>T (p.Arg862Cys) | not provided [RCV003670524] | uncertain significance | 12 | 20648706 | 20648706 | Human | | name |
| 405196205 | CV2975991 | single nucleotide variant | NM_000921.5(PDE3A):c.1252A>C (p.Lys418Gln) | not provided [RCV003677683] | uncertain significance | 12 | 20613683 | 20613683 | Human | | name |
| 405231040 | CV2988273 | single nucleotide variant | NM_000921.5(PDE3A):c.1792G>A (p.Ala598Thr) | not provided [RCV003711526] | uncertain significance | 12 | 20633724 | 20633724 | Human | | name |
| 405253487 | CV3054248 | single nucleotide variant | NM_000921.5(PDE3A):c.1385G>A (p.Arg462His) | not provided [RCV003722551] | uncertain significance | 12 | 20616345 | 20616345 | Human | | name |
| 405193858 | CV3066353 | single nucleotide variant | NM_000921.5(PDE3A):c.1751T>C (p.Ile584Thr) | not provided [RCV003729977] | uncertain significance | 12 | 20630118 | 20630118 | Human | | name |
| 405134856 | CV3115612 | single nucleotide variant | NM_000921.5(PDE3A):c.1826C>G (p.Thr609Ser) | Inborn genetic diseases [RCV005387267]|not provided [RCV003816269] | uncertain significance | 12 | 20633758 | 20633758 | Human | 1 | name |
| 405144270 | CV3126143 | single nucleotide variant | NM_000921.5(PDE3A):c.2397G>A (p.Met799Ile) | not provided [RCV003817059] | uncertain significance | 12 | 20646782 | 20646782 | Human | | name |
| 405204058 | CV3144054 | single nucleotide variant | NM_000921.5(PDE3A):c.1543G>A (p.Ala515Thr) | not provided [RCV003844844] | uncertain significance | 12 | 20629910 | 20629910 | Human | | name |
| 402521320 | CV3179521 | single nucleotide variant | NM_000921.5(PDE3A):c.1964C>T (p.Ala655Val) | not provided [RCV003879773] | uncertain significance | 12 | 20635019 | 20635019 | Human | | name |
| 405691612 | CV3227567 | single nucleotide variant | NM_000921.5(PDE3A):c.2593T>G (p.Leu865Val) | Brachydactyly-arterial hypertension syndrome [RCV003991912] | uncertain significance | 12 | 20648715 | 20648715 | Human | 1 | name |
| 405775754 | CV3375196 | single nucleotide variant | NM_000921.5(PDE3A):c.1298T>C (p.Leu433Ser) | Inborn genetic diseases [RCV004503072] | uncertain significance | 12 | 20616258 | 20616258 | Human | 1 | name |
| 405775759 | CV3375197 | single nucleotide variant | NM_000921.5(PDE3A):c.1525A>C (p.Lys509Gln) | Inborn genetic diseases [RCV004503073] | uncertain significance | 12 | 20621396 | 20621396 | Human | 1 | name |
| 405775765 | CV3375198 | single nucleotide variant | NM_000921.5(PDE3A):c.1814G>A (p.Ser605Asn) | Inborn genetic diseases [RCV004503074] | uncertain significance | 12 | 20633746 | 20633746 | Human | 1 | name |
| 405775773 | CV3375199 | single nucleotide variant | NM_000921.5(PDE3A):c.1901G>A (p.Ser634Asn) | Inborn genetic diseases [RCV004503075] | uncertain significance | 12 | 20634956 | 20634956 | Human | 1 | name |
| 405775779 | CV3375200 | single nucleotide variant | NM_000921.5(PDE3A):c.2108T>C (p.Ile703Thr) | Inborn genetic diseases [RCV004503076] | uncertain significance | 12 | 20637206 | 20637206 | Human | 1 | name |
| 405775784 | CV3375201 | single nucleotide variant | NM_000921.5(PDE3A):c.2219A>G (p.His740Arg) | Inborn genetic diseases [RCV004503077] | uncertain significance | 12 | 20639925 | 20639925 | Human | 1 | name |
| 407524005 | CV3460167 | single nucleotide variant | NM_000921.5(PDE3A):c.1214A>C (p.Tyr405Ser) | Inborn genetic diseases [RCV004653496] | uncertain significance | 12 | 20613645 | 20613645 | Human | 1 | name |
| 407463330 | CV3460168 | single nucleotide variant | NM_000921.5(PDE3A):c.2909A>G (p.Asn970Ser) | Inborn genetic diseases [RCV004659654] | uncertain significance | 12 | 20650584 | 20650584 | Human | 1 | name |
| 407524007 | CV3460169 | single nucleotide variant | NM_000921.5(PDE3A):c.1766G>T (p.Gly589Val) | Inborn genetic diseases [RCV004653497] | uncertain significance | 12 | 20633698 | 20633698 | Human | 1 | name |
| 407463333 | CV3460172 | single nucleotide variant | NM_000921.5(PDE3A):c.1805T>C (p.Leu602Pro) | Inborn genetic diseases [RCV004659655] | uncertain significance | 12 | 20633737 | 20633737 | Human | 1 | name |
| 407463336 | CV3460173 | single nucleotide variant | NM_000921.5(PDE3A):c.1228T>C (p.Ser410Pro) | Inborn genetic diseases [RCV004659656] | uncertain significance | 12 | 20613659 | 20613659 | Human | 1 | name |
| 407524016 | CV3460175 | single nucleotide variant | NM_000921.5(PDE3A):c.1802C>A (p.Pro601His) | Inborn genetic diseases [RCV004653501] | uncertain significance | 12 | 20633734 | 20633734 | Human | 1 | name |
| 407463341 | CV3460177 | single nucleotide variant | NM_000921.5(PDE3A):c.1523A>C (p.Lys508Thr) | Inborn genetic diseases [RCV004659658] | uncertain significance | 12 | 20621394 | 20621394 | Human | 1 | name |
| 407506092 | CV3496106 | single nucleotide variant | NM_000921.5(PDE3A):c.1307G>A (p.Arg436Gln) | not provided [RCV004697946] | uncertain significance | 12 | 20616267 | 20616267 | Human | | name |
| 408383619 | CV3506964 | single nucleotide variant | NM_000921.5(PDE3A):c.1532G>C (p.Ser511Thr) | PDE3A-related disorder [RCV004730760] | uncertain significance | 12 | 20621403 | 20621403 | Human | | name , trait , alternate_id |
| 408379983 | CV3509303 | single nucleotide variant | NM_000921.5(PDE3A):c.2467G>T (p.Ala823Ser) | Inborn genetic diseases [RCV005387310]|PDE3A-related disorder [RCV004753862] | uncertain significance | 12 | 20646852 | 20646852 | Human | 2 | name , trait , alternate_id |
| 596946850 | CV3548684 | single nucleotide variant | NM_000921.5(PDE3A):c.2514T>A (p.Tyr838Ter) | not provided [RCV004810512] | uncertain significance | 12 | 20646899 | 20646899 | Human | | name |
| 597623041 | CV3552368 | single nucleotide variant | NM_000921.5(PDE3A):c.1564C>T (p.Leu522Phe) | Brachydactyly-arterial hypertension syndrome [RCV004821226] | uncertain significance | 12 | 20629931 | 20629931 | Human | 1 | name |
| 597705751 | CV3568779 | single nucleotide variant | NM_000921.5(PDE3A):c.2357G>C (p.Ser786Thr) | Inborn genetic diseases [RCV004957186] | uncertain significance | 12 | 20646595 | 20646595 | Human | 1 | name |
| 597705741 | CV3568780 | single nucleotide variant | NM_000921.5(PDE3A):c.2639G>A (p.Arg880Gln) | Inborn genetic diseases [RCV004957187] | uncertain significance | 12 | 20648761 | 20648761 | Human | 1 | name |
| 597705736 | CV3568781 | single nucleotide variant | NM_000921.5(PDE3A):c.1108G>A (p.Val370Met) | Inborn genetic diseases [RCV004957188] | uncertain significance | 12 | 20613539 | 20613539 | Human | 1 | name |
| 597705506 | CV3568784 | single nucleotide variant | NM_000921.5(PDE3A):c.2834G>A (p.Cys945Tyr) | Inborn genetic diseases [RCV004957191] | uncertain significance | 12 | 20650509 | 20650509 | Human | 1 | name |
| 597705319 | CV3568785 | single nucleotide variant | NM_000921.5(PDE3A):c.2126G>A (p.Arg709His) | Inborn genetic diseases [RCV004957192] | uncertain significance | 12 | 20637224 | 20637224 | Human | 1 | name |
| 597705152 | CV3568786 | single nucleotide variant | NM_000921.5(PDE3A):c.2305A>G (p.Thr769Ala) | Inborn genetic diseases [RCV004957193] | uncertain significance | 12 | 20646543 | 20646543 | Human | 1 | name |
| 597705030 | CV3568789 | single nucleotide variant | NM_000921.5(PDE3A):c.2906T>C (p.Val969Ala) | Inborn genetic diseases [RCV004957196] | uncertain significance | 12 | 20650581 | 20650581 | Human | 1 | name |
| 597705039 | CV3568790 | single nucleotide variant | NM_000921.5(PDE3A):c.1718A>G (p.Asp573Gly) | Inborn genetic diseases [RCV004957197] | uncertain significance | 12 | 20630085 | 20630085 | Human | 1 | name |
| 597705061 | CV3568793 | single nucleotide variant | NM_000921.5(PDE3A):c.2630T>G (p.Phe877Cys) | Inborn genetic diseases [RCV004957200] | uncertain significance | 12 | 20648752 | 20648752 | Human | 1 | name |
| 597703345 | CV3713972 | single nucleotide variant | NM_000921.5(PDE3A):c.1306C>T (p.Arg436Ter) | Brachydactyly-arterial hypertension syndrome [RCV005008995] | uncertain significance | 12 | 20616266 | 20616266 | Human | 1 | name |
| 597655851 | CV3731520 | single nucleotide variant | NM_000921.5(PDE3A):c.2728C>G (p.Leu910Val) | not provided [RCV005001701] | uncertain significance | 12 | 20648850 | 20648850 | Human | | name |
| 597865414 | CV3767398 | single nucleotide variant | NM_000921.5(PDE3A):c.1207G>A (p.Glu403Lys) | not provided [RCV005106734] | uncertain significance | 12 | 20613638 | 20613638 | Human | | name |
| 597861353 | CV3770214 | single nucleotide variant | NM_000921.5(PDE3A):c.1561C>T (p.Pro521Ser) | not provided [RCV005106066] | uncertain significance | 12 | 20629928 | 20629928 | Human | | name |
| 598166747 | CV4006219 | single nucleotide variant | NM_000921.5(PDE3A):c.2374A>C (p.Ser792Arg) | Inborn genetic diseases [RCV005391434] | uncertain significance | 12 | 20646759 | 20646759 | Human | 1 | name |
| 598166735 | CV4006221 | single nucleotide variant | NM_000921.5(PDE3A):c.1367C>A (p.Ala456Glu) | Inborn genetic diseases [RCV005391436] | uncertain significance | 12 | 20616327 | 20616327 | Human | 1 | name |
| 598166725 | CV4006223 | single nucleotide variant | NM_000921.5(PDE3A):c.1384C>A (p.Arg462Ser) | Inborn genetic diseases [RCV005391438] | uncertain significance | 12 | 20616344 | 20616344 | Human | 1 | name |
| 598166713 | CV4006225 | single nucleotide variant | NM_000921.5(PDE3A):c.2207T>C (p.Met736Thr) | Inborn genetic diseases [RCV005391440] | uncertain significance | 12 | 20639913 | 20639913 | Human | 1 | name |
| 598209022 | CV4007812 | single nucleotide variant | NM_000921.5(PDE3A):c.2255A>G (p.His752Arg) | Brachydactyly-arterial hypertension syndrome [RCV005400126] | uncertain significance | 12 | 20646493 | 20646493 | Human | 1 | name |
| 598209027 | CV4007813 | single nucleotide variant | NM_000921.5(PDE3A):c.2863G>C (p.Ala955Pro) | Brachydactyly-arterial hypertension syndrome [RCV005400127] | uncertain significance | 12 | 20650538 | 20650538 | Human | 1 | name |
| 617150450 | CV4018988 | single nucleotide variant | NM_000921.5(PDE3A):c.1343C>A (p.Thr448Lys) | not provided [RCV005423396] | uncertain significance | 12 | 20616303 | 20616303 | Human | | name |
| 15199489 | CV702270 | single nucleotide variant | NM_000921.5(PDE3A):c.1801C>A (p.Pro601Thr) | not provided [RCV000957052] | benign|conflicting interpretations of pathogenicity | 12 | 20633733 | 20633733 | Human | | name |
| 15158949 | CV713473 | single nucleotide variant | NM_000921.5(PDE3A):c.1045G>A (p.Val349Ile) | PDE3A-related disorder [RCV003918411]|not provided [RCV000969619] | likely benign | 12 | 20613476 | 20613476 | Human | 1 | name , trait , alternate_id |
| 15144818 | CV738582 | single nucleotide variant | NM_000921.5(PDE3A):c.1376G>A (p.Arg459Gln) | Brachydactyly-arterial hypertension syndrome [RCV002495445]|PDE3A-related disorder [RCV003922950]|not provided [RCV000900063] | benign|likely benign | 12 | 20616336 | 20616336 | Human | 8 | name , trait , alternate_id |
| 15109738 | CV784354 | single nucleotide variant | NM_000921.5(PDE3A):c.1490A>G (p.Tyr497Cys) | PDE3A-related disorder [RCV003943261]|not provided [RCV000977298] | benign | 12 | 20621361 | 20621361 | Human | 1 | name , trait , alternate_id |
| 39456362 | CV964119 | single nucleotide variant | NM_000921.5(PDE3A):c.1346G>A (p.Gly449Asp) | Brachydactyly-arterial hypertension syndrome [RCV001254931]|not provided [RCV003727957] | pathogenic | 12 | 20616306 | 20616306 | Human | 1 | name |
| 151888633 | CV1402191 | single nucleotide variant | NM_000921.5(PDE3A):c.3392G>A (p.Gly1131Asp) | not provided [RCV001942625] | likely benign|uncertain significance | 12 | 20680237 | 20680237 | Human | | name |
| 151788534 | CV1479303 | single nucleotide variant | NM_000921.5(PDE3A):c.3283C>T (p.Arg1095Trp) | not provided [RCV002046871] | uncertain significance | 12 | 20680128 | 20680128 | Human | | name |
| 156385153 | CV1874821 | single nucleotide variant | NM_000921.5(PDE3A):c.3161C>T (p.Thr1054Ile) | not provided [RCV003050800] | uncertain significance | 12 | 20654182 | 20654182 | Human | | name |
| 329383260 | CV2434483 | single nucleotide variant | NM_000921.5(PDE3A):c.3163T>A (p.Cys1055Ser) | Inborn genetic diseases [RCV003188710] | uncertain significance | 12 | 20654184 | 20654184 | Human | 1 | name |
| 401931423 | CV2798492 | single nucleotide variant | NM_000921.5(PDE3A):c.3025G>T (p.Val1009Leu) | PDE3A-related disorder [RCV003391396] | uncertain significance | 12 | 20654046 | 20654046 | Human | | name , trait , alternate_id |
| 405192169 | CV3157164 | single nucleotide variant | NM_000921.5(PDE3A):c.3023T>C (p.Ile1008Thr) | not provided [RCV003859852] | uncertain significance | 12 | 20654044 | 20654044 | Human | | name |
| 405775801 | CV3375204 | single nucleotide variant | NM_000921.5(PDE3A):c.3088A>G (p.Ser1030Gly) | Inborn genetic diseases [RCV004503080] | uncertain significance | 12 | 20654109 | 20654109 | Human | 1 | name |
| 405775812 | CV3375206 | single nucleotide variant | NM_000921.5(PDE3A):c.3190A>G (p.Lys1064Glu) | Inborn genetic diseases [RCV004503082] | uncertain significance | 12 | 20680035 | 20680035 | Human | 1 | name |
| 405775818 | CV3375207 | single nucleotide variant | NM_000921.5(PDE3A):c.3193A>G (p.Thr1065Ala) | Inborn genetic diseases [RCV004503083] | uncertain significance | 12 | 20680038 | 20680038 | Human | 1 | name |
| 405775824 | CV3375208 | single nucleotide variant | NM_000921.5(PDE3A):c.3379G>A (p.Gly1127Arg) | Inborn genetic diseases [RCV004503084] | uncertain significance | 12 | 20680224 | 20680224 | Human | 1 | name |
| 408379989 | CV3509369 | single nucleotide variant | NM_000921.5(PDE3A):c.3320C>A (p.Thr1107Asn) | PDE3A-related disorder [RCV004753866] | uncertain significance | 12 | 20680165 | 20680165 | Human | | name , trait , alternate_id |
| 597705769 | CV3568777 | single nucleotide variant | NM_000921.5(PDE3A):c.3058G>C (p.Gly1020Arg) | Inborn genetic diseases [RCV004957184] | uncertain significance | 12 | 20654079 | 20654079 | Human | 1 | name |
| 597703353 | CV3713973 | single nucleotide variant | NM_000921.5(PDE3A):c.3329C>T (p.Ser1110Leu) | Brachydactyly-arterial hypertension syndrome [RCV005008996] | uncertain significance | 12 | 20680174 | 20680174 | Human | 1 | name |
| 597889480 | CV3739410 | single nucleotide variant | NM_000921.5(PDE3A):c.3289G>A (p.Ala1097Thr) | not provided [RCV005070957] | uncertain significance | 12 | 20680134 | 20680134 | Human | | name |
| 597964535 | CV3754379 | single nucleotide variant | NM_000921.5(PDE3A):c.3200A>G (p.Lys1067Arg) | not provided [RCV005082486] | uncertain significance | 12 | 20680045 | 20680045 | Human | | name |
| 597891769 | CV3763052 | single nucleotide variant | NM_000921.5(PDE3A):c.3394G>A (p.Glu1132Lys) | not provided [RCV005110825] | uncertain significance | 12 | 20680239 | 20680239 | Human | | name |
| 598166753 | CV4006218 | single nucleotide variant | NM_000921.5(PDE3A):c.3391G>A (p.Gly1131Ser) | Inborn genetic diseases [RCV005391433] | uncertain significance | 12 | 20680236 | 20680236 | Human | 1 | name |
| 15015398 | CV678051 | microsatellite | NM_000921.5(PDE3A):c.1324ACC[3] (p.Thr445del) | Brachydactyly-arterial hypertension syndrome [RCV000853625] | likely pathogenic | 12 | 20616284 | 20616286 | Human | | name |
| 597830621 | CV3743158 | microsatellite | NM_000921.5(PDE3A):c.3363AGA[3] (p.Glu1125del) | not provided [RCV005062166] | uncertain significance | 12 | 20680206 | 20680208 | Human | | name |
| 405035775 | CV2923591 | microsatellite | NM_000921.5(PDE3A):c.284CGG[5] (p.Ala98_Glu99insAla) | not provided [RCV003578690] | likely benign | 12 | 20369565 | 20369566 | Human | | name |