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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


70 records found for search term Pde1a
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150514613CV1228574single nucleotide variantNM_005019.7(PDE1A):c.101+113C>Tnot provided [RCV001638562]benign2182522163182522163Humanname
150446333CV1233324duplicationNM_001363871.4(PDE1A):c.54-8dupnot provided [RCV001645998]benign2182264421182264422Humanname
150495719CV1225145single nucleotide variantNM_001363871.4(PDE1A):c.776+7C>Tnot provided [RCV001619623]benign2182223857182223857Humanname
150339901CV1167929single nucleotide variantNM_001363871.4(PDE1A):c.902+87C>Tnot provided [RCV001534728]benign2182205853182205853Humanname
150492983CV1225576single nucleotide variantNM_001363871.4(PDE1A):c.675+60T>Gnot provided [RCV001619092]benign2182229946182229946Humanname
150515914CV1227709single nucleotide variantNM_001363871.4(PDE1A):c.54-101T>Cnot provided [RCV001638984]benign2182264515182264515Humanname
150479561CV1273488single nucleotide variantNM_001363871.4(PDE1A):c.902+48T>Anot provided [RCV001696692]benign2182205892182205892Humanname
150514941CV1217326deletionNM_001363871.4(PDE1A):c.675+225delnot provided [RCV001608230]benign2182229781182229781Humanname
150475157CV1217907single nucleotide variantNM_001363871.4(PDE1A):c.1004+24G>Tnot provided [RCV001615918]benign2182201664182201664Humanname
150491354CV1225290duplicationNM_001363871.4(PDE1A):c.1004+37dupnot provided [RCV001618805]benign2182201650182201651Humanname
150510985CV1229316single nucleotide variantNM_001363871.4(PDE1A):c.777-119C>Tnot provided [RCV001637244]benign2182206184182206184Humanname
150505224CV1255416single nucleotide variantNM_001363871.4(PDE1A):c.167+202A>Gnot provided [RCV001677863]benign2182264099182264099Humanname
150470451CV1258588single nucleotide variantNM_001363871.4(PDE1A):c.534+233T>Cnot provided [RCV001684133]benign2182230782182230782Humanname
150490013CV1279408single nucleotide variantNM_001363871.4(PDE1A):c.1207+62A>Tnot provided [RCV001716396]benign2182188917182188917Humanname
150473464CV1281493single nucleotide variantNM_001363871.4(PDE1A):c.1207+48G>Cnot provided [RCV001713534]benign2182188931182188931Humanname
150451562CV1220880single nucleotide variantNM_001363871.4(PDE1A):c.168-1739A>Cnot provided [RCV001611974]benign2182242031182242031Humanname
150517306CV1226754single nucleotide variantNM_001363871.4(PDE1A):c.168-1408G>Cnot provided [RCV001639848]benign2182241700182241700Humanname
150513470CV1229020single nucleotide variantNM_001363871.4(PDE1A):c.1208-106T>Cnot provided [RCV001637862]benign2182186694182186694Humanname
150454289CV1232243single nucleotide variantNM_001363871.4(PDE1A):c.168-1978C>Anot provided [RCV001648256]benign2182242270182242270Humanname
150511081CV1242599single nucleotide variantNM_001363871.4(PDE1A):c.168-1806A>Gnot provided [RCV001660951]benign2182242098182242098Humanname
150430607CV1243391single nucleotide variantNM_001363871.4(PDE1A):c.1208-134A>Gnot provided [RCV001663008]benign2182186722182186722Humanname
150499515CV1254371single nucleotide variantNM_001363871.4(PDE1A):c.1329-157G>Cnot provided [RCV001676545]benign2182186236182186236Humanname
405287631CV3210719single nucleotide variantNM_001363871.4(PDE1A):c.168-1621T>GPDE1A-related disorder [RCV003924478]likely benign2182241913182241913Humanname , trait , alternate_id
8630080CV85227single nucleotide variantNM_001003683.2(PDE1A):c.216-1530G>AMalignant melanoma [RCV000065309]not provided2182241822182241822Humanname
150517310CV1226758single nucleotide variantNM_001363871.4(PDE1A):c.1516+17841A>Gnot provided [RCV001639852]benign2182168051182168051Humanname
150438019CV1247116single nucleotide variantNM_001363871.4(PDE1A):c.1516+17417T>Cnot provided [RCV001665885]benign2182168475182168475Humanname
150479080CV1258196deletionNM_001363871.4(PDE1A):c.1516+17598delnot provided [RCV001685612]benign2182168294182168294Humanname
329350008CV2452298single nucleotide variantNM_005019.7(PDE1A):c.67C>G (p.Gln23Glu)not specified [RCV004278976]uncertain significance2182522310182522310Humanname
150440132CV1221405duplicationNM_001363871.4(PDE1A):c.1004+36_1004+37dupnot provided [RCV001610100]benign2182201650182201651Humanname
150515469CV1227568duplicationNM_001363871.4(PDE1A):c.1004+35_1004+37dupnot provided [RCV001638841]benign2182201650182201651Humanname
150451525CV1254839duplicationNM_001363871.4(PDE1A):c.1004+32_1004+37dupnot provided [RCV001667898]benign2182201650182201651Humanname
150484645CV1273861duplicationNM_001363871.4(PDE1A):c.1004+33_1004+37dupnot provided [RCV001698541]benign2182201650182201651Humanname
401895432CV2786474single nucleotide variantNM_001363871.4(PDE1A):c.56T>C (p.Leu19Pro)not specified [RCV004362051]uncertain significance2182264412182264412Humanname
405866976CV2842518single nucleotide variantNM_001363871.4(PDE1A):c.405C>T (p.Ile135=)EBV-positive nodal T- and NK-cell lymphoma [RCV004557875]likely benign2182234444182234444Humanname
156223282CV2232947single nucleotide variantNM_001363871.4(PDE1A):c.100G>A (p.Val34Ile)not specified [RCV004103326]uncertain significance2182264368182264368Humanname
401888569CV2757714single nucleotide variantNM_001363871.4(PDE1A):c.260G>A (p.Arg87Gln)not specified [RCV004336867]uncertain significance2182240200182240200Humanname
405775631CV3375175single nucleotide variantNM_001363871.4(PDE1A):c.136G>A (p.Val46Met)not specified [RCV004503051]uncertain significance2182264332182264332Humanname
405775639CV3375176single nucleotide variantNM_001363871.4(PDE1A):c.211G>T (p.Asp71Tyr)not specified [RCV004503052]uncertain significance2182240249182240249Humanname
405775646CV3375177single nucleotide variantNM_001363871.4(PDE1A):c.287C>G (p.Pro96Arg)not specified [RCV004503053]uncertain significance2182240173182240173Humanname
597698881CV3568747single nucleotide variantNM_001363871.4(PDE1A):c.233G>A (p.Arg78Gln)not specified [RCV004839518]uncertain significance2182240227182240227Humanname
8630079CV85226single nucleotide variantNM_001003683.2(PDE1A):c.1167C>T (p.Phe389=)Malignant melanoma [RCV000065308]not provided2182201445182201445Humanname
150467635CV1277604insertionNM_001363871.4(PDE1A):c.675+224_675+225insAGnot provided [RCV001710899]benign2182229781182229782Humanname
156384722CV2231170single nucleotide variantNM_001363871.4(PDE1A):c.982A>G (p.Asn328Asp)not specified [RCV004094376]uncertain significance2182201710182201710Humanname
156232347CV2273690single nucleotide variantNM_001363871.4(PDE1A):c.571T>G (p.Leu191Val)not specified [RCV004132346]uncertain significance2182230110182230110Humanname
329402408CV2454252single nucleotide variantNM_001363871.4(PDE1A):c.526C>T (p.Arg176Cys)not specified [RCV004265726]uncertain significance2182231023182231023Humanname
401749526CV2710791single nucleotide variantNM_001363871.4(PDE1A):c.739C>T (p.His247Tyr)not specified [RCV004308720]uncertain significance2182223901182223901Humanname
405238697CV3081297microsatelliteNM_001363871.4(PDE1A):c.53+38808_53+38811delnot provided [RCV003736401]benign2182387767182387770Humanname
405284755CV3190529single nucleotide variantNM_001363871.4(PDE1A):c.527G>A (p.Arg176His)PDE1A-related disorder [RCV003909335]likely benign2182231022182231022Humanname , trait , alternate_id
405775652CV3375178single nucleotide variantNM_001363871.4(PDE1A):c.406G>A (p.Val136Ile)not specified [RCV004503054]uncertain significance2182234443182234443Humanname
405775658CV3375179single nucleotide variantNM_001363871.4(PDE1A):c.682C>T (p.Leu228Phe)not specified [RCV004503055]uncertain significance2182223958182223958Humanname
407463281CV3460146single nucleotide variantNM_001363871.4(PDE1A):c.682C>G (p.Leu228Val)not specified [RCV004659641]uncertain significance2182223958182223958Humanname
407463285CV3460147single nucleotide variantNM_001363871.4(PDE1A):c.486T>A (p.Phe162Leu)not specified [RCV004659642]uncertain significance2182231063182231063Humanname
407463291CV3460148single nucleotide variantNM_001363871.4(PDE1A):c.869A>T (p.Asn290Ile)not specified [RCV004659643]uncertain significance2182205973182205973Humanname
597698872CV3568745single nucleotide variantNM_001363871.4(PDE1A):c.351A>T (p.Arg117Ser)not specified [RCV004839517]uncertain significance2182234498182234498Humanname
597698890CV3568748single nucleotide variantNM_001363871.4(PDE1A):c.331G>C (p.Ala111Pro)not specified [RCV004839519]uncertain significance2182240129182240129Humanname
598165972CV4006196single nucleotide variantNM_001363871.4(PDE1A):c.806G>A (p.Arg269His)not specified [RCV005391416]uncertain significance2182206036182206036Humanname
8625222CV80341single nucleotide variantNM_001003683.2(PDE1A):c.340G>A (p.Glu114Lys)Malignant melanoma [RCV000060418]not provided2182240168182240168Humanname
156180855CV2201772single nucleotide variantNM_001363871.4(PDE1A):c.1333A>G (p.Thr445Ala)not specified [RCV004082214]uncertain significance2182186075182186075Humanname
156087855CV2337049single nucleotide variantNM_001363871.4(PDE1A):c.1340T>C (p.Ile447Thr)not specified [RCV004192814]uncertain significance2182186068182186068Humanname
329379121CV2460174single nucleotide variantNM_001363871.4(PDE1A):c.1276C>T (p.Pro426Ser)not specified [RCV004273273]uncertain significance2182186520182186520Humanname
401724248CV2714769single nucleotide variantNM_001363871.4(PDE1A):c.1354A>G (p.Ile452Val)not specified [RCV004320335]likely benign2182186054182186054Humanname
401779591CV2731912single nucleotide variantNM_001363871.4(PDE1A):c.1313C>T (p.Ser438Phe)not specified [RCV004333154]uncertain significance2182186483182186483Humanname
401892124CV2775949single nucleotide variantNM_001363871.4(PDE1A):c.1453A>C (p.Lys485Gln)not specified [RCV004344968]uncertain significance2182185955182185955Humanname
405775601CV3375170single nucleotide variantNM_001363871.4(PDE1A):c.1224A>G (p.Ile408Met)not specified [RCV004503046]uncertain significance2182186572182186572Humanname
405775614CV3375172single nucleotide variantNM_001363871.4(PDE1A):c.1435G>A (p.Val479Met)not specified [RCV004503048]uncertain significance2182185973182185973Humanname
405775620CV3375173single nucleotide variantNM_001363871.4(PDE1A):c.1508C>A (p.Ala503Asp)not specified [RCV004503049]uncertain significance2182185900182185900Humanname
405775626CV3375174single nucleotide variantNM_001363871.4(PDE1A):c.1523C>T (p.Ser508Phe)not specified [RCV004503050]uncertain significance2182147146182147146Humanname
597756763CV3568743single nucleotide variantNM_001363871.4(PDE1A):c.1088G>A (p.Arg363Gln)not specified [RCV004848189]uncertain significance2182201476182201476Humanname
597756769CV3568744single nucleotide variantNM_001363871.4(PDE1A):c.1042G>A (p.Ala348Thr)not specified [RCV004848190]uncertain significance2182201522182201522Humanname
598165979CV4006197single nucleotide variantNM_001363871.4(PDE1A):c.1556A>G (p.Asn519Ser)not specified [RCV005391417]uncertain significance2182147113182147113Humanname