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


359 records found for search term Psd
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15197971CV775447single nucleotide variantNM_002779.5(PSD):c.2398-9C>Tnot provided [RCV000934670]likely benign10102405064102405064Humanname
15166509CV778027single nucleotide variantNM_002779.5(PSD):c.2701-5G>Anot provided [RCV000948852]likely benign10102403990102403990Humanname
15202504CV767596single nucleotide variantNM_002779.5(PSD):c.27C>T (p.Cys9=)not provided [RCV000935968]likely benign10102417012102417012Humanname
15134500CV751923single nucleotide variantNM_002779.5(PSD):c.30G>A (p.Ser10=)not provided [RCV000920697]likely benign10102417009102417009Humanname
405661303CV3378268single nucleotide variantNM_002779.5(PSD):c.19C>T (p.Arg7Cys)not specified [RCV004513042]uncertain significance10102417020102417020Humanname
407531474CV3471736single nucleotide variantNM_002779.5(PSD):c.68G>A (p.Arg23His)not specified [RCV004657630]uncertain significance10102416971102416971Humanname
15186524CV701149single nucleotide variantNM_002779.5(PSD):c.825G>A (p.Val275=)not provided [RCV000953308]likely benign10102415162102415162Humanname
15169702CV737309single nucleotide variantNM_002779.5(PSD):c.480C>T (p.Pro160=)not provided [RCV000905112]benign10102416559102416559Humanname
15146766CV751922single nucleotide variantNM_002779.5(PSD):c.465A>C (p.Thr155=)not provided [RCV000922776]likely benign10102416574102416574Humanname
15197590CV767595single nucleotide variantNM_002779.5(PSD):c.774G>A (p.Glu258=)not provided [RCV000934553]likely benign10102415213102415213Humanname
156400737CV2217089single nucleotide variantNM_002779.5(PSD):c.230G>A (p.Arg77His)not specified [RCV004085766]uncertain significance10102416809102416809Humanname
156193267CV2344221single nucleotide variantNM_002779.5(PSD):c.152C>A (p.Ala51Glu)not specified [RCV004197858]uncertain significance10102416887102416887Humanname
329379355CV2456219single nucleotide variantNM_002779.5(PSD):c.247T>G (p.Trp83Gly)not specified [RCV004273403]uncertain significance10102416792102416792Humanname
329382229CV2467564single nucleotide variantNM_002779.5(PSD):c.148G>A (p.Val50Met)not specified [RCV004287157]uncertain significance10102416891102416891Humanname
405661312CV3378271single nucleotide variantNM_002779.5(PSD):c.273G>T (p.Gln91His)not specified [RCV004513045]uncertain significance10102416766102416766Humanname
405661301CV3379582single nucleotide variantNM_002779.5(PSD):c.1749C>T (p.Asn583=)not specified [RCV004513041]likely benign10102412227102412227Humanname
407531468CV3471732single nucleotide variantNM_002779.5(PSD):c.262C>T (p.Pro88Ser)not specified [RCV004657627]uncertain significance10102416777102416777Humanname
407531472CV3471734single nucleotide variantNM_002779.5(PSD):c.280C>G (p.Pro94Ala)not specified [RCV004657629]uncertain significance10102416759102416759Humanname
407490858CV3471735single nucleotide variantNM_002779.5(PSD):c.251C>T (p.Ala84Val)not specified [RCV004666723]uncertain significance10102416788102416788Humanname
598162254CV3898007single nucleotide variantNM_002779.5(PSD):c.215G>C (p.Gly72Ala)not specified [RCV005261345]uncertain significance10102416824102416824Humanname
15151685CV712130single nucleotide variantNM_002779.5(PSD):c.1975C>T (p.Leu659=)not provided [RCV000968193]benign10102411084102411084Humanname
15146002CV751920single nucleotide variantNM_002779.5(PSD):c.2040G>A (p.Gly680=)not provided [RCV000922643]likely benign10102410909102410909Humanname
15105412CV751921single nucleotide variantNM_002779.5(PSD):c.1950C>T (p.Ala650=)not provided [RCV000915540]likely benign10102411109102411109Humanname
156174808CV2326969single nucleotide variantNM_002779.5(PSD):c.785C>A (p.Pro262Gln)not specified [RCV004176777]uncertain significance10102415202102415202Humanname
329352374CV2452936single nucleotide variantNM_002779.5(PSD):c.751A>C (p.Ser251Arg)not specified [RCV004277569]uncertain significance10102416023102416023Humanname
329387154CV2463379single nucleotide variantNM_002779.5(PSD):c.898G>A (p.Asp300Asn)not specified [RCV004277220]uncertain significance10102415089102415089Humanname
401864975CV2757342single nucleotide variantNM_002779.5(PSD):c.745C>G (p.Pro249Ala)not specified [RCV004340748]uncertain significance10102416029102416029Humanname
401892802CV2758073single nucleotide variantNM_002779.5(PSD):c.581A>G (p.Asn194Ser)not specified [RCV004339638]uncertain significance10102416458102416458Humanname
401871537CV2783535single nucleotide variantNM_002779.5(PSD):c.593G>C (p.Gly198Ala)not specified [RCV004365865]uncertain significance10102416446102416446Humanname
405661323CV3378275single nucleotide variantNM_002779.5(PSD):c.311G>A (p.Arg104His)not specified [RCV004513049]uncertain significance10102416728102416728Humanname
405661325CV3378276single nucleotide variantNM_002779.5(PSD):c.484A>G (p.Arg162Gly)not specified [RCV004513050]likely benign10102416555102416555Humanname
405661327CV3378277single nucleotide variantNM_002779.5(PSD):c.845A>G (p.Lys282Arg)not specified [RCV004513051]uncertain significance10102415142102415142Humanname
407531460CV3471728single nucleotide variantNM_002779.5(PSD):c.691C>T (p.His231Tyr)not specified [RCV004657623]uncertain significance10102416083102416083Humanname
597772760CV3581825single nucleotide variantNM_002779.5(PSD):c.437A>G (p.Asn146Ser)not specified [RCV004851591]uncertain significance10102416602102416602Humanname
597772784CV3581830single nucleotide variantNM_002779.5(PSD):c.814G>C (p.Gly272Arg)not specified [RCV004851596]uncertain significance10102415173102415173Humanname
597772791CV3581831single nucleotide variantNM_002779.5(PSD):c.584G>T (p.Gly195Val)not specified [RCV004851597]uncertain significance10102416455102416455Humanname
597772796CV3581832single nucleotide variantNM_002779.5(PSD):c.829G>A (p.Val277Met)not specified [RCV004851598]uncertain significance10102415158102415158Humanname
597772807CV3581834single nucleotide variantNM_002779.5(PSD):c.373C>G (p.Arg125Gly)not specified [RCV004851600]uncertain significance10102416666102416666Humanname
597772813CV3581835single nucleotide variantNM_002779.5(PSD):c.611C>T (p.Ala204Val)not specified [RCV004851601]uncertain significance10102416428102416428Humanname
597772830CV3581838single nucleotide variantNM_002779.5(PSD):c.553G>C (p.Ala185Pro)not specified [RCV004851604]uncertain significance10102416486102416486Humanname
598162249CV3898006single nucleotide variantNM_002779.5(PSD):c.444G>T (p.Lys148Asn)not specified [RCV005261344]uncertain significance10102416595102416595Humanname
598162273CV3898010single nucleotide variantNM_002779.5(PSD):c.440G>A (p.Arg147Gln)not specified [RCV005261348]uncertain significance10102416599102416599Humanname
598162291CV3898013single nucleotide variantNM_002779.5(PSD):c.956C>G (p.Pro319Arg)not specified [RCV005261351]uncertain significance10102415031102415031Humanname
598162307CV3898016single nucleotide variantNM_002779.5(PSD):c.863T>G (p.Leu288Arg)not specified [RCV005261354]uncertain significance10102415124102415124Humanname
598162312CV3898017single nucleotide variantNM_002779.5(PSD):c.350T>C (p.Leu117Pro)not specified [RCV005261355]uncertain significance10102416689102416689Humanname
155945687CV2238017single nucleotide variantNM_002779.5(PSD):c.2713C>G (p.Arg905Gly)not specified [RCV004111048]uncertain significance10102403973102403973Humanname
155914975CV2242885single nucleotide variantNM_002779.5(PSD):c.2665C>T (p.Pro889Ser)not specified [RCV004107476]uncertain significance10102404618102404618Humanname
156086939CV2258945single nucleotide variantNM_002779.5(PSD):c.2201G>C (p.Arg734Pro)not specified [RCV004120225]uncertain significance10102405471102405471Humanname
156248607CV2263995single nucleotide variantNM_002779.5(PSD):c.2285C>T (p.Ala762Val)not specified [RCV004138020]uncertain significance10102405387102405387Humanname
156005189CV2290299single nucleotide variantNM_002779.5(PSD):c.2333G>A (p.Arg778Gln)not specified [RCV004154734]uncertain significance10102405247102405247Humanname
156088348CV2295503single nucleotide variantNM_002779.5(PSD):c.2789G>A (p.Gly930Asp)not specified [RCV004160610]uncertain significance10102403897102403897Humanname
156042412CV2310970single nucleotide variantNM_002779.5(PSD):c.2534G>A (p.Arg845Gln)not specified [RCV004164001]uncertain significance10102404919102404919Humanname
156046899CV2315639single nucleotide variantNM_002779.5(PSD):c.1337C>T (p.Pro446Leu)not specified [RCV004169672]uncertain significance10102413985102413985Humanname
155981251CV2337021single nucleotide variantNM_002779.5(PSD):c.1022C>T (p.Pro341Leu)not specified [RCV004192789]uncertain significance10102414965102414965Humanname
156337169CV2343018single nucleotide variantNM_002779.5(PSD):c.1156G>T (p.Val386Leu)not specified [RCV004192620]uncertain significance10102414166102414166Humanname
156132441CV2350127single nucleotide variantNM_002779.5(PSD):c.2950G>A (p.Glu984Lys)not specified [RCV004200047]uncertain significance10102403325102403325Humanname
155902925CV2356554single nucleotide variantNM_002779.5(PSD):c.1136G>A (p.Arg379Gln)not specified [RCV004199463]uncertain significance10102414186102414186Humanname
156305168CV2369368single nucleotide variantNM_002779.5(PSD):c.1369G>A (p.Ala457Thr)not specified [RCV004208270]uncertain significance10102413953102413953Humanname
156188819CV2375423single nucleotide variantNM_002779.5(PSD):c.2305G>A (p.Ala769Thr)not specified [RCV004232815]uncertain significance10102405367102405367Humanname
155993143CV2381708single nucleotide variantNM_002779.5(PSD):c.2770G>A (p.Ala924Thr)not specified [RCV004232169]uncertain significance10102403916102403916Humanname
156250808CV2394246single nucleotide variantNM_002779.5(PSD):c.2251C>T (p.Pro751Ser)not specified [RCV004238480]uncertain significance10102405421102405421Humanname
156261300CV2395618single nucleotide variantNM_002779.5(PSD):c.2713C>T (p.Arg905Trp)not specified [RCV004241463]uncertain significance10102403973102403973Humanname
401770080CV2710875single nucleotide variantNM_002779.5(PSD):c.1723G>A (p.Asp575Asn)not specified [RCV004308786]uncertain significance10102412406102412406Humanname
401723947CV2725100single nucleotide variantNM_002779.5(PSD):c.1612C>T (p.Arg538Trp)not specified [RCV004319846]uncertain significance10102412517102412517Humanname
401866699CV2758976single nucleotide variantNM_002779.5(PSD):c.2941G>A (p.Gly981Arg)not specified [RCV004342289]uncertain significance10102403334102403334Humanname
405661305CV3378269single nucleotide variantNM_002779.5(PSD):c.2234C>A (p.Pro745His)not specified [RCV004513043]uncertain significance10102405438102405438Humanname
405661309CV3378270single nucleotide variantNM_002779.5(PSD):c.2680G>T (p.Ala894Ser)not specified [RCV004513044]uncertain significance10102404603102404603Humanname
405661314CV3378272single nucleotide variantNM_002779.5(PSD):c.2872C>G (p.Leu958Val)not specified [RCV004513046]uncertain significance10102403403102403403Humanname
405661317CV3378273single nucleotide variantNM_002779.5(PSD):c.2962C>T (p.Pro988Ser)not specified [RCV004513047]uncertain significance10102403313102403313Humanname
405661296CV3379580single nucleotide variantNM_002779.5(PSD):c.1175C>T (p.Thr392Met)not specified [RCV004513039]uncertain significance10102414147102414147Humanname
405661298CV3379581single nucleotide variantNM_002779.5(PSD):c.1360G>C (p.Asp454His)not specified [RCV004513040]uncertain significance10102413962102413962Humanname
407490855CV3471727single nucleotide variantNM_002779.5(PSD):c.1135C>T (p.Arg379Trp)not specified [RCV004666722]uncertain significance10102414187102414187Humanname
407531466CV3471731single nucleotide variantNM_002779.5(PSD):c.2131G>A (p.Ala711Thr)not specified [RCV004657626]uncertain significance10102407227102407227Humanname
407531470CV3471733single nucleotide variantNM_002779.5(PSD):c.1092C>A (p.Asp364Glu)not specified [RCV004657628]uncertain significance10102414895102414895Humanname
407490862CV3471737single nucleotide variantNM_002779.5(PSD):c.1036G>A (p.Gly346Ser)not specified [RCV004666724]uncertain significance10102414951102414951Humanname
597772754CV3581824single nucleotide variantNM_002779.5(PSD):c.1901A>G (p.Gln634Arg)not specified [RCV004851590]uncertain significance10102411748102411748Humanname
597772765CV3581826single nucleotide variantNM_002779.5(PSD):c.1390C>T (p.Leu464Phe)not specified [RCV004851592]uncertain significance10102413932102413932Humanname
597772770CV3581827single nucleotide variantNM_002779.5(PSD):c.2756G>A (p.Arg919Gln)not specified [RCV004851593]uncertain significance10102403930102403930Humanname
597772775CV3581828single nucleotide variantNM_002779.5(PSD):c.2915C>T (p.Ala972Val)not specified [RCV004851594]uncertain significance10102403360102403360Humanname
597772779CV3581829single nucleotide variantNM_002779.5(PSD):c.1375G>A (p.Ala459Thr)not specified [RCV004851595]uncertain significance10102413947102413947Humanname
597772802CV3581833single nucleotide variantNM_002779.5(PSD):c.1676A>G (p.Gln559Arg)not specified [RCV004851599]uncertain significance10102412453102412453Humanname
597772817CV3581836single nucleotide variantNM_002779.5(PSD):c.2825A>G (p.Glu942Gly)not specified [RCV004851602]uncertain significance10102403861102403861Humanname
597772824CV3581837single nucleotide variantNM_002779.5(PSD):c.1095C>A (p.Asp365Glu)not specified [RCV004851603]uncertain significance10102414892102414892Humanname
597772835CV3581839single nucleotide variantNM_002779.5(PSD):c.1336C>A (p.Pro446Thr)not specified [RCV004851605]uncertain significance10102413986102413986Humanname
598162260CV3898008single nucleotide variantNM_002779.5(PSD):c.2201G>A (p.Arg734Gln)not specified [RCV005261346]uncertain significance10102405471102405471Humanname
598162278CV3898011single nucleotide variantNM_002779.5(PSD):c.1183T>A (p.Ser395Thr)not specified [RCV005261349]uncertain significance10102414139102414139Humanname
598162284CV3898012single nucleotide variantNM_002779.5(PSD):c.1184C>G (p.Ser395Trp)not specified [RCV005261350]uncertain significance10102414138102414138Humanname
598162297CV3898014single nucleotide variantNM_002779.5(PSD):c.1219G>A (p.Glu407Lys)not specified [RCV005261352]uncertain significance10102414103102414103Humanname
598162301CV3898015single nucleotide variantNM_002779.5(PSD):c.2946C>A (p.Ser982Arg)not specified [RCV005261353]uncertain significance10102403329102403329Humanname
598162318CV3898018single nucleotide variantNM_002779.5(PSD):c.2170T>A (p.Leu724Met)not specified [RCV005261356]uncertain significance10102405502102405502Humanname
15172156CV701147single nucleotide variantNM_002779.5(PSD):c.2714G>A (p.Arg905Gln)not provided [RCV000949966]likely benign10102403972102403972Humanname
15190719CV701148single nucleotide variantNM_002779.5(PSD):c.1006G>A (p.Gly336Ser)not provided [RCV000954559]benign10102414981102414981Humanname
8633468CV88683single nucleotide variantNM_002779.4(PSD):c.2252C>T (p.Pro751Leu)Malignant melanoma [RCV000068776]not provided10102405420102405420Humanname
156396276CV2326190single nucleotide variantNM_002779.5(PSD):c.3013C>G (p.Arg1005Gly)not specified [RCV004180458]uncertain significance10102403262102403262Humanname
156174258CV2334521single nucleotide variantNM_002779.5(PSD):c.3013C>T (p.Arg1005Trp)not specified [RCV004188482]uncertain significance10102403262102403262Humanname
156113550CV2349132single nucleotide variantNM_002779.5(PSD):c.3061C>T (p.Arg1021Trp)not specified [RCV004205973]uncertain significance10102403214102403214Humanname
401727105CV2684471single nucleotide variantNM_002779.5(PSD):c.3014G>A (p.Arg1005Gln)not specified [RCV004291544]uncertain significance10102403261102403261Humanname
405661320CV3378274single nucleotide variantNM_002779.5(PSD):c.3023G>C (p.Arg1008Pro)not specified [RCV004513048]uncertain significance10102403252102403252Humanname
407531458CV3471726single nucleotide variantNM_002779.5(PSD):c.3059G>A (p.Gly1020Glu)not specified [RCV004657622]uncertain significance10102403216102403216Humanname
407531462CV3471729single nucleotide variantNM_002779.5(PSD):c.3065G>A (p.Arg1022Gln)not specified [RCV004657624]uncertain significance10102403210102403210Humanname
598162266CV3898009single nucleotide variantNM_002779.5(PSD):c.3009G>T (p.Gln1003His)not specified [RCV005261347]uncertain significance10102403266102403266Humanname
15117573CV737308single nucleotide variantNM_002779.5(PSD):c.3041G>A (p.Arg1014Gln)not provided [RCV000895401]benign10102403234102403234Humanname
8650196CV126770single nucleotide variantNM_015310.3(PSD3):c.2217-393A>GLung cancer [RCV000107257]uncertain significance81863319918633199Humanname
401925969CV2796605single nucleotide variantNM_015310.4(PSD3):c.1241T>A (p.Ile414Asn)PSD3-related disorder [RCV003405814]uncertain significance81886806718868067Humanname , trait , alternate_id
401931237CV2800632single nucleotide variantNM_015310.4(PSD3):c.2387A>G (p.His796Arg)PSD3-related disorder [RCV003391264]uncertain significance81863263618632636Humanname , trait , alternate_id
405294525CV3208919single nucleotide variantNM_015310.4(PSD3):c.1565C>T (p.Thr522Ile)PSD3-related disorder [RCV003934470]likely benign81886774318867743Humanname , trait , alternate_id
15189247CV700510single nucleotide variantNM_015310.4(PSD3):c.1024C>T (p.Arg342Cys)PSD3-related disorder [RCV003935827]|not provided [RCV000954118]likely benign81887184018871840Humanname , trait , alternate_id
15182410CV722979single nucleotide variantNM_015310.4(PSD3):c.338A>T (p.Asp113Val)PSD3-related disorder [RCV003940539]|not provided [RCV000885986]likely benign81887252618872526Humanname , trait , alternate_id
15156238CV721247single nucleotide variantNM_032289.4(PSD2):c.60C>T (p.Pro20=)not provided [RCV000880586]benign5139809500139809500Humanname
597772872CV3581847single nucleotide variantNM_032289.4(PSD2):c.13A>C (p.Lys5Gln)not specified [RCV004851613]uncertain significance5139809453139809453Humanname
155962177CV2200896single nucleotide variantNM_012455.3(PSD4):c.29A>G (p.His10Arg)not specified [RCV004081515]uncertain significance2113182485113182485Humanname
156401665CV2217493single nucleotide variantNM_032289.4(PSD2):c.52C>T (p.Arg18Cys)not specified [RCV004090039]uncertain significance5139809492139809492Humanname
156236044CV2268081single nucleotide variantNM_032289.4(PSD2):c.91C>T (p.Arg31Trp)not specified [RCV004138411]uncertain significance5139809531139809531Humanname
156245233CV2313332single nucleotide variantNM_012455.3(PSD4):c.70A>G (p.Ser24Gly)not specified [RCV004163362]uncertain significance2113182526113182526Humanname
405661413CV3378307single nucleotide variantNM_012455.3(PSD4):c.32C>A (p.Pro11His)not specified [RCV004513081]uncertain significance2113182488113182488Humanname
597772846CV3581841single nucleotide variantNM_032289.4(PSD2):c.53G>A (p.Arg18His)not specified [RCV004851607]likely benign5139809493139809493Humanname
597772867CV3581846single nucleotide variantNM_032289.4(PSD2):c.64C>T (p.Pro22Ser)not specified [RCV004851612]uncertain significance5139809504139809504Humanname
597772984CV3581871single nucleotide variantNM_012455.3(PSD4):c.42G>T (p.Met14Ile)not specified [RCV004851635]uncertain significance2113182498113182498Humanname
15114314CV709658single nucleotide variantNM_032289.4(PSD2):c.86G>A (p.Gly29Glu)not provided [RCV000961652]benign5139809526139809526Humanname
15114319CV709659single nucleotide variantNM_032289.4(PSD2):c.92G>A (p.Arg31Gln)not provided [RCV000961653]benign5139809532139809532Humanname
15155242CV711435single nucleotide variantNM_015310.4(PSD3):c.441C>T (p.Ser147=)not provided [RCV000968888]benign81887242318872423Humanname
15105119CV722980single nucleotide variantNM_015310.4(PSD3):c.312C>T (p.Leu104=)not provided [RCV000893019]likely benign81887255218872552Humanname
15166708CV751054single nucleotide variantNM_015310.4(PSD3):c.948C>T (p.Thr316=)not provided [RCV000926930]likely benign81887191618871916Humanname
8629800CV84947single nucleotide variantNM_012455.2(PSD4):c.918G>A (p.Leu306=)Malignant melanoma [RCV000065029]not provided2113183374113183374Humanname
155921461CV2208448single nucleotide variantNM_032289.4(PSD2):c.281C>T (p.Ala94Val)not specified [RCV004090987]uncertain significance5139809721139809721Humanname
156209136CV2370071single nucleotide variantNM_032289.4(PSD2):c.256G>A (p.Asp86Asn)not specified [RCV004210966]uncertain significance5139809696139809696Humanname
155961368CV2388024single nucleotide variantNM_012455.3(PSD4):c.220C>T (p.His74Tyr)not specified [RCV004241155]uncertain significance2113182676113182676Humanname
401864263CV2760869single nucleotide variantNM_012455.3(PSD4):c.182A>T (p.Gln61Leu)not specified [RCV004336504]uncertain significance2113182638113182638Humanname
401925701CV2820941single nucleotide variantNM_015310.4(PSD3):c.1173A>G (p.Glu391=)not provided [RCV003436782]likely benign81887169118871691Humanname
405661330CV3378278single nucleotide variantNM_032289.4(PSD2):c.149G>A (p.Arg50Gln)not specified [RCV004513052]uncertain significance5139809589139809589Humanname
405661362CV3378290single nucleotide variantNM_015310.4(PSD3):c.196A>G (p.Met66Val)not specified [RCV004513064]uncertain significance81887266818872668Humanname
405661389CV3378299single nucleotide variantNM_012455.3(PSD4):c.203C>A (p.Ser68Tyr)not specified [RCV004513073]uncertain significance2113182659113182659Humanname
597772882CV3581849single nucleotide variantNM_032289.4(PSD2):c.215G>C (p.Ser72Thr)not specified [RCV004851615]uncertain significance5139809655139809655Humanname
597772980CV3581870single nucleotide variantNM_012455.3(PSD4):c.222C>A (p.His74Gln)not specified [RCV004851634]uncertain significance2113182678113182678Humanname
597772994CV3581873single nucleotide variantNM_012455.3(PSD4):c.179G>A (p.Arg60Lys)not specified [RCV004851637]uncertain significance2113182635113182635Humanname
15197794CV700507single nucleotide variantNM_015310.4(PSD3):c.1644G>A (p.Gly548=)not provided [RCV000956565]benign81880488918804889Humanname
15102994CV722977single nucleotide variantNM_015310.4(PSD3):c.2862C>T (p.Pro954=)not provided [RCV000892586]benign81855627518556275Humanname
8629798CV84945single nucleotide variantNM_012455.2(PSD4):c.248G>A (p.Gly83Glu)Malignant melanoma [RCV000065027]not provided2113182704113182704Humanname
8629804CV84951single nucleotide variantNM_012455.2(PSD4):c.2016G>A (p.Gly672=)Malignant melanoma [RCV000065033]not provided2113193354113193354Humanname
156269885CV2195119single nucleotide variantNM_032289.4(PSD2):c.689G>A (p.Arg230His)not specified [RCV004078025]uncertain significance5139813626139813626Humanname
156400234CV2199053single nucleotide variantNM_032289.4(PSD2):c.650A>G (p.Glu217Gly)not specified [RCV004080454]uncertain significance5139813587139813587Humanname
156238555CV2217055single nucleotide variantNM_015310.4(PSD3):c.532C>T (p.Arg178Cys)not specified [RCV004085738]uncertain significance81887233218872332Humanname
156379730CV2217957single nucleotide variantNM_012455.3(PSD4):c.415C>T (p.His139Tyr)not specified [RCV004086410]uncertain significance2113182871113182871Humanname
156291563CV2226340single nucleotide variantNM_015310.4(PSD3):c.496G>T (p.Val166Phe)not specified [RCV004099572]uncertain significance81887236818872368Humanname
156306724CV2252768single nucleotide variantNM_032289.4(PSD2):c.917G>T (p.Gly306Val)not specified [RCV004118611]uncertain significance5139814265139814265Humanname
156177480CV2258173single nucleotide variantNM_032289.4(PSD2):c.844C>A (p.Leu282Met)not specified [RCV004121558]uncertain significance5139814192139814192Humanname
155971314CV2262324single nucleotide variantNM_012455.3(PSD4):c.655G>C (p.Glu219Gln)not specified [RCV004128519]uncertain significance2113183111113183111Humanname
156346730CV2300679single nucleotide variantNM_012455.3(PSD4):c.614C>T (p.Pro205Leu)not specified [RCV004155621]uncertain significance2113183070113183070Humanname
155908739CV2307136single nucleotide variantNM_032289.4(PSD2):c.847T>C (p.Ser283Pro)not specified [RCV004159616]uncertain significance5139814195139814195Humanname
156325217CV2335196single nucleotide variantNM_032289.4(PSD2):c.500C>T (p.Thr167Met)not specified [RCV004186769]uncertain significance5139813437139813437Humanname
156331340CV2339621single nucleotide variantNM_032289.4(PSD2):c.801C>G (p.Asp267Glu)not specified [RCV004196330]uncertain significance5139813738139813738Humanname
156192862CV2350448single nucleotide variantNM_032289.4(PSD2):c.793G>A (p.Asp265Asn)not specified [RCV004204821]uncertain significance5139813730139813730Humanname
156275039CV2351784single nucleotide variantNM_032289.4(PSD2):c.973G>A (p.Glu325Lys)not specified [RCV004197940]uncertain significance5139814321139814321Humanname
156131364CV2358251single nucleotide variantNM_032289.4(PSD2):c.559C>T (p.Arg187Trp)not specified [RCV004212040]uncertain significance5139813496139813496Humanname
156162818CV2368297single nucleotide variantNM_032289.4(PSD2):c.905C>T (p.Pro302Leu)not specified [RCV004219080]uncertain significance5139814253139814253Humanname
156055550CV2370872single nucleotide variantNM_032289.4(PSD2):c.721A>G (p.Met241Val)not specified [RCV004218613]uncertain significance5139813658139813658Humanname
156064404CV2375975single nucleotide variantNM_015310.4(PSD3):c.635G>T (p.Ser212Ile)not specified [RCV004218180]uncertain significance81887222918872229Humanname
156259934CV2381057single nucleotide variantNM_012455.3(PSD4):c.443G>A (p.Arg148Gln)not specified [RCV004225094]likely benign2113182899113182899Humanname
156145051CV2393751single nucleotide variantNM_012455.3(PSD4):c.526A>G (p.Lys176Glu)not specified [RCV004233591]uncertain significance2113182982113182982Humanname
329396943CV2463680single nucleotide variantNM_032289.4(PSD2):c.969C>G (p.His323Gln)not specified [RCV004279255]uncertain significance5139814317139814317Humanname
401731178CV2674286single nucleotide variantNM_032289.4(PSD2):c.818C>G (p.Ala273Gly)not specified [RCV004289165]uncertain significance5139813755139813755Humanname
401741315CV2690461single nucleotide variantNM_012455.3(PSD4):c.854C>T (p.Ala285Val)not specified [RCV004304231]uncertain significance2113183310113183310Humanname
401731070CV2697541single nucleotide variantNM_012455.3(PSD4):c.442C>T (p.Arg148Trp)not specified [RCV004297927]uncertain significance2113182898113182898Humanname
401763776CV2717118single nucleotide variantNM_012455.3(PSD4):c.874C>T (p.Pro292Ser)not specified [RCV004324001]uncertain significance2113183330113183330Humanname
401746870CV2732011single nucleotide variantNM_032289.4(PSD2):c.332C>T (p.Ser111Phe)not specified [RCV004333246]uncertain significance5139809772139809772Humanname
401886000CV2771003single nucleotide variantNM_012455.3(PSD4):c.569C>T (p.Thr190Met)not specified [RCV004344019]uncertain significance2113183025113183025Humanname
401897842CV2772984single nucleotide variantNM_012455.3(PSD4):c.514G>A (p.Glu172Lys)not specified [RCV004351440]uncertain significance2113182970113182970Humanname
401892424CV2781924single nucleotide variantNM_032289.4(PSD2):c.531G>T (p.Glu177Asp)not specified [RCV004357165]uncertain significance5139813468139813468Humanname
405661343CV3378283single nucleotide variantNM_032289.4(PSD2):c.385G>A (p.Gly129Arg)not specified [RCV004513057]uncertain significance5139813322139813322Humanname
405661346CV3378284single nucleotide variantNM_032289.4(PSD2):c.401G>A (p.Arg134Gln)not specified [RCV004513058]uncertain significance5139813338139813338Humanname
405661349CV3378285single nucleotide variantNM_032289.4(PSD2):c.607A>T (p.Met203Leu)not specified [RCV004513059]uncertain significance5139813544139813544Humanname
405661355CV3378287single nucleotide variantNM_032289.4(PSD2):c.767G>C (p.Gly256Ala)not specified [RCV004513061]uncertain significance5139813704139813704Humanname
405661356CV3378288single nucleotide variantNM_032289.4(PSD2):c.860C>G (p.Ser287Cys)not specified [RCV004513062]uncertain significance5139814208139814208Humanname
405661384CV3378297single nucleotide variantNM_015310.4(PSD3):c.781C>T (p.His261Tyr)not specified [RCV004513071]uncertain significance81887208318872083Humanname
405661414CV3378308single nucleotide variantNM_012455.3(PSD4):c.530C>T (p.Thr177Met)not specified [RCV004513082]uncertain significance2113182986113182986Humanname
405661417CV3378309single nucleotide variantNM_012455.3(PSD4):c.535G>A (p.Gly179Arg)not specified [RCV004513083]uncertain significance2113182991113182991Humanname
405661420CV3378310single nucleotide variantNM_012455.3(PSD4):c.608C>A (p.Ser203Tyr)not specified [RCV004513084]uncertain significance2113183064113183064Humanname
405661423CV3378311single nucleotide variantNM_012455.3(PSD4):c.703C>T (p.Pro235Ser)not specified [RCV004513085]uncertain significance2113183159113183159Humanname
405661425CV3378312single nucleotide variantNM_012455.3(PSD4):c.757G>A (p.Ala253Thr)not specified [RCV004513086]uncertain significance2113183213113183213Humanname
405661427CV3378313single nucleotide variantNM_012455.3(PSD4):c.808G>A (p.Ala270Thr)not specified [RCV004513087]uncertain significance2113183264113183264Humanname
405661433CV3378315single nucleotide variantNM_012455.3(PSD4):c.860T>C (p.Leu287Pro)not specified [RCV004513089]uncertain significance2113183316113183316Humanname
407531476CV3471738single nucleotide variantNM_032289.4(PSD2):c.383C>T (p.Pro128Leu)not specified [RCV004657631]uncertain significance5139813320139813320Humanname
407490868CV3471740single nucleotide variantNM_032289.4(PSD2):c.451C>T (p.Arg151Trp)not specified [RCV004666726]uncertain significance5139813388139813388Humanname
407490877CV3471745single nucleotide variantNM_032289.4(PSD2):c.328G>T (p.Ala110Ser)not specified [RCV004666729]uncertain significance5139809768139809768Humanname
407531486CV3471748single nucleotide variantNM_032289.4(PSD2):c.455G>A (p.Gly152Asp)not specified [RCV004657636]uncertain significance5139813392139813392Humanname
407531488CV3471749single nucleotide variantNM_032289.4(PSD2):c.361C>G (p.Pro121Ala)not specified [RCV004657637]uncertain significance5139809801139809801Humanname
407531509CV3471761single nucleotide variantNM_012455.3(PSD4):c.388G>A (p.Ala130Thr)not specified [RCV004657647]uncertain significance2113182844113182844Humanname
597772838CV3581840single nucleotide variantNM_032289.4(PSD2):c.812A>C (p.Asn271Thr)not specified [RCV004851606]uncertain significance5139813749139813749Humanname
597772853CV3581843single nucleotide variantNM_032289.4(PSD2):c.875C>T (p.Ser292Leu)not specified [RCV004851609]uncertain significance5139814223139814223Humanname
597772967CV3581868single nucleotide variantNM_012455.3(PSD4):c.422C>T (p.Pro141Leu)not specified [RCV004851632]likely benign2113182878113182878Humanname
597772974CV3581869single nucleotide variantNM_012455.3(PSD4):c.841C>T (p.Pro281Ser)not specified [RCV004851633]uncertain significance2113183297113183297Humanname
597772989CV3581872single nucleotide variantNM_012455.3(PSD4):c.430C>G (p.Pro144Ala)not specified [RCV004851636]uncertain significance2113182886113182886Humanname
598162323CV3898019single nucleotide variantNM_032289.4(PSD2):c.307G>A (p.Val103Met)not specified [RCV005261357]uncertain significance5139809747139809747Humanname
598162333CV3898021single nucleotide variantNM_032289.4(PSD2):c.668G>A (p.Arg223Gln)not specified [RCV005261359]uncertain significance5139813605139813605Humanname
598162425CV3898037single nucleotide variantNM_012455.3(PSD4):c.928G>A (p.Ala310Thr)not specified [RCV005261375]uncertain significance2113183384113183384Humanname
598162443CV3898040single nucleotide variantNM_012455.3(PSD4):c.827G>T (p.Gly276Val)not specified [RCV005261378]uncertain significance2113183283113183283Humanname
15118072CV711436single nucleotide variantNM_015310.4(PSD3):c.419C>T (p.Ala140Val)not provided [RCV000962310]benign81887244518872445Humanname
15177162CV736568single nucleotide variantNM_015310.4(PSD3):c.672C>G (p.Asp224Glu)not provided [RCV000906586]benign81887219218872192Humanname
25317021CV805012single nucleotide variantNM_015310.4(PSD3):c.437T>C (p.Ile146Thr)Flexion contracture [RCV001007779]uncertain significance81887242718872427Human2name
8629799CV84946single nucleotide variantNM_012455.2(PSD4):c.848G>A (p.Ser283Asn)Malignant melanoma [RCV000065028]not provided2113183304113183304Humanname
155959236CV2193830single nucleotide variantNM_012455.3(PSD4):c.2215G>C (p.Glu739Gln)not specified [RCV004074579]uncertain significance2113195760113195760Humanname
155978181CV2214983single nucleotide variantNM_015310.4(PSD3):c.2105G>T (p.Cys702Phe)not specified [RCV004084761]uncertain significance81876551618765516Humanname
155927895CV2218500single nucleotide variantNM_012455.3(PSD4):c.2575G>A (p.Val859Ile)not specified [RCV004090779]uncertain significance2113197864113197864Humanname
155927931CV2218510single nucleotide variantNM_032289.4(PSD2):c.1523C>T (p.Ala508Val)not specified [RCV004090789]uncertain significance5139836930139836930Humanname
156388015CV2221688single nucleotide variantNM_012455.3(PSD4):c.1192G>A (p.Gly398Ser)not specified [RCV004098457]uncertain significance2113185383113185383Humanname
156280214CV2224106single nucleotide variantNM_015310.4(PSD3):c.1631G>A (p.Gly544Glu)not specified [RCV004095970]uncertain significance81886767718867677Humanname
156337270CV2228666single nucleotide variantNM_012455.3(PSD4):c.1409C>T (p.Pro470Leu)not specified [RCV004092887]uncertain significance2113186036113186036Humanname
156229560CV2234982single nucleotide variantNM_032289.4(PSD2):c.2191G>A (p.Ala731Thr)not specified [RCV004113178]uncertain significance5139842349139842349Humanname
156298322CV2251939single nucleotide variantNM_032289.4(PSD2):c.1552G>A (p.Val518Ile)not specified [RCV004119907]uncertain significance5139836959139836959Humanname
156199370CV2255991single nucleotide variantNM_015310.4(PSD3):c.1388C>T (p.Thr463Ile)not specified [RCV004122435]uncertain significance81886792018867920Humanname
155980048CV2263612single nucleotide variantNM_032289.4(PSD2):c.2120G>A (p.Arg707His)not specified [RCV004135616]uncertain significance5139842278139842278Humanname
156147814CV2265231single nucleotide variantNM_015310.4(PSD3):c.2590G>A (p.Val864Met)not specified [RCV004126342]uncertain significance81857517718575177Humanname
156240710CV2265586single nucleotide variantNM_015310.4(PSD3):c.2014G>A (p.Ala672Thr)not specified [RCV004124322]uncertain significance81880127918801279Humanname
156363488CV2265744single nucleotide variantNM_012455.3(PSD4):c.1639A>G (p.Arg547Gly)not specified [RCV004124453]uncertain significance2113192390113192390Humanname
156366356CV2272282single nucleotide variantNM_012455.3(PSD4):c.2591C>T (p.Thr864Met)not specified [RCV004126948]uncertain significance2113197880113197880Humanname
156250170CV2273248single nucleotide variantNM_015310.4(PSD3):c.2558C>G (p.Ser853Cys)not specified [RCV004132043]uncertain significance81857520918575209Humanname
155948509CV2273496single nucleotide variantNM_032289.4(PSD2):c.2077G>A (p.Glu693Lys)not specified [RCV004132240]uncertain significance5139840135139840135Humanname
155916993CV2278484single nucleotide variantNM_015310.4(PSD3):c.2055G>T (p.Met685Ile)not specified [RCV004132926]uncertain significance81879932218799322Humanname
155928714CV2281211single nucleotide variantNM_032289.4(PSD2):c.1827C>G (p.Ser609Arg)not specified [RCV004147460]uncertain significance5139838631139838631Humanname
156260942CV2287458single nucleotide variantNM_032289.4(PSD2):c.2264G>T (p.Gly755Val)not specified [RCV004140928]uncertain significance5139842422139842422Humanname
156192528CV2289429single nucleotide variantNM_015310.4(PSD3):c.2120C>A (p.Ala707Glu)not specified [RCV004152382]uncertain significance81876550118765501Humanname
156002274CV2292177single nucleotide variantNM_012455.3(PSD4):c.2879A>C (p.Glu960Ala)not specified [RCV004148232]uncertain significance2113199192113199192Humanname
156274454CV2293821single nucleotide variantNM_015310.4(PSD3):c.2755C>G (p.Leu919Val)not specified [RCV004155088]uncertain significance81857255718572557Humanname
156277794CV2300280single nucleotide variantNM_032289.4(PSD2):c.2003G>A (p.Arg668Lys)not specified [RCV004153237]uncertain significance5139840061139840061Humanname
156048654CV2304444single nucleotide variantNM_032289.4(PSD2):c.1723G>A (p.Val575Met)not specified [RCV004164539]uncertain significance5139837682139837682Humanname
156247650CV2306991single nucleotide variantNM_015310.4(PSD3):c.2726G>A (p.Gly909Asp)not specified [RCV004157499]uncertain significance81857258618572586Humanname
155971764CV2309337single nucleotide variantNM_032289.4(PSD2):c.1052T>G (p.Leu351Arg)not specified [RCV004165492]uncertain significance5139817516139817516Humanname
156158845CV2314565single nucleotide variantNM_012455.3(PSD4):c.1627C>A (p.His543Asn)not specified [RCV004168653]uncertain significance2113186254113186254Humanname
156165697CV2315186single nucleotide variantNM_015310.4(PSD3):c.1657C>T (p.Arg553Trp)not specified [RCV004165358]uncertain significance81880487618804876Humanname
156077648CV2318592single nucleotide variantNM_015310.4(PSD3):c.2728T>G (p.Ser910Ala)not specified [RCV004173495]uncertain significance81857258418572584Humanname
156352622CV2324015single nucleotide variantNM_015310.4(PSD3):c.2125C>G (p.Leu709Val)not specified [RCV004176528]uncertain significance81876549618765496Humanname
156177523CV2327190single nucleotide variantNM_032289.4(PSD2):c.1549G>A (p.Gly517Ser)not specified [RCV004174656]uncertain significance5139836956139836956Humanname
155982131CV2337128single nucleotide variantNM_012455.3(PSD4):c.2866C>G (p.Arg956Gly)not specified [RCV004192888]uncertain significance2113199179113199179Humanname
156189307CV2356603single nucleotide variantNM_032289.4(PSD2):c.2079G>C (p.Glu693Asp)not specified [RCV004201969]uncertain significance5139840137139840137Humanname
156104908CV2361063single nucleotide variantNM_012455.3(PSD4):c.1712G>A (p.Arg571Lys)not specified [RCV004216259]uncertain significance2113192463113192463Humanname
156105693CV2361305single nucleotide variantNM_012455.3(PSD4):c.2200C>T (p.Arg734Cys)not specified [RCV004218519]uncertain significance2113195745113195745Humanname
156253620CV2366230single nucleotide variantNM_015310.4(PSD3):c.2833G>A (p.Glu945Lys)not specified [RCV004210246]uncertain significance81855630418556304Humanname
156402181CV2368115single nucleotide variantNM_012455.3(PSD4):c.1376G>A (p.Arg459Lys)not specified [RCV004216464]uncertain significance2113186003113186003Humanname
156257263CV2369337single nucleotide variantNM_012455.3(PSD4):c.2869G>A (p.Glu957Lys)not specified [RCV004208242]uncertain significance2113199182113199182Humanname
156307983CV2369849single nucleotide variantNM_015310.4(PSD3):c.2297G>A (p.Arg766His)not specified [RCV004208323]uncertain significance81863272618632726Humanname
155996775CV2373112single nucleotide variantNM_012455.3(PSD4):c.2714C>A (p.Ser905Tyr)not specified [RCV004217804]uncertain significance2113198829113198829Humanname
155935915CV2379732single nucleotide variantNM_015310.4(PSD3):c.2348C>G (p.Ala783Gly)not specified [RCV004219852]uncertain significance81863267518632675Humanname
156267335CV2389293single nucleotide variantNM_032289.4(PSD2):c.1580T>C (p.Met527Thr)not specified [RCV004235608]uncertain significance5139836987139836987Humanname
156270034CV2398643single nucleotide variantNM_032289.4(PSD2):c.1792G>A (p.Ala598Thr)not specified [RCV004239994]uncertain significance5139837751139837751Humanname
156097375CV2399196single nucleotide variantNM_015310.4(PSD3):c.2794C>A (p.Leu932Met)not specified [RCV004246625]uncertain significance81855634318556343Humanname
329375853CV2431644single nucleotide variantNM_012455.3(PSD4):c.1318C>A (p.Pro440Thr)not specified [RCV004254789]uncertain significance2113185945113185945Humanname
329354074CV2436905single nucleotide variantNM_015310.4(PSD3):c.2326G>A (p.Asp776Asn)not specified [RCV004260287]uncertain significance81863269718632697Humanname
329400744CV2438732single nucleotide variantNM_012455.3(PSD4):c.1922G>A (p.Ser641Asn)not specified [RCV004261882]uncertain significance2113193260113193260Humanname
329365152CV2440082single nucleotide variantNM_012455.3(PSD4):c.1468T>C (p.Ser490Pro)not specified [RCV004260549]likely benign2113186095113186095Humanname
329381376CV2440808single nucleotide variantNM_012455.3(PSD4):c.1210C>T (p.Pro404Ser)not specified [RCV004258749]uncertain significance2113185401113185401Humanname
329364581CV2443713single nucleotide variantNM_032289.4(PSD2):c.2230C>T (p.Arg744Trp)not specified [RCV004256013]uncertain significance5139842388139842388Humanname
329382777CV2445483single nucleotide variantNM_012455.3(PSD4):c.2773G>C (p.Glu925Gln)not specified [RCV004257542]uncertain significance2113199086113199086Humanname
329373702CV2447335single nucleotide variantNM_012455.3(PSD4):c.2251G>A (p.Glu751Lys)not specified [RCV004262617]uncertain significance2113196172113196172Humanname
329391868CV2453202single nucleotide variantNM_012455.3(PSD4):c.2746G>T (p.Val916Leu)not specified [RCV004279574]uncertain significance2113198861113198861Humanname
329357052CV2460674single nucleotide variantNM_015310.4(PSD3):c.2161G>T (p.Asp721Tyr)not specified [RCV004270714]uncertain significance81876546018765460Humanname
401730857CV2674178single nucleotide variantNM_015310.4(PSD3):c.2009C>T (p.Thr670Ile)not specified [RCV004289075]uncertain significance81880128418801284Humanname
401757282CV2675210single nucleotide variantNM_015310.4(PSD3):c.1673C>T (p.Ser558Phe)not specified [RCV004289981]uncertain significance81880486018804860Humanname
401719805CV2675688single nucleotide variantNM_032289.4(PSD2):c.1967A>G (p.Gln656Arg)not specified [RCV004287939]uncertain significance5139838771139838771Humanname
401723008CV2677167single nucleotide variantNM_032289.4(PSD2):c.2134A>G (p.Ile712Val)not specified [RCV004295799]uncertain significance5139842292139842292Humanname
401735915CV2692229single nucleotide variantNM_015310.4(PSD3):c.2746C>T (p.Arg916Cys)not specified [RCV004303710]uncertain significance81857256618572566Humanname
401769823CV2693041single nucleotide variantNM_012455.3(PSD4):c.2957T>G (p.Leu986Arg)not specified [RCV004308589]uncertain significance2113201201113201201Humanname
401745292CV2698508single nucleotide variantNM_015310.4(PSD3):c.2024A>G (p.Asp675Gly)not specified [RCV004299006]uncertain significance81879935318799353Humanname
401732131CV2708680single nucleotide variantNM_012455.3(PSD4):c.1391C>T (p.Ser464Leu)not specified [RCV004307659]uncertain significance2113186018113186018Humanname
401738380CV2714434single nucleotide variantNM_032289.4(PSD2):c.1931G>T (p.Arg644Leu)not specified [RCV004317964]uncertain significance5139838735139838735Humanname
401742732CV2715304single nucleotide variantNM_015310.4(PSD3):c.2008A>G (p.Thr670Ala)not specified [RCV004324640]uncertain significance81880128518801285Humanname
401780000CV2725816single nucleotide variantNM_032289.4(PSD2):c.1456G>A (p.Gly486Arg)not specified [RCV004316285]uncertain significance5139836863139836863Humanname
401870399CV2765938single nucleotide variantNM_032289.4(PSD2):c.1673A>G (p.Tyr558Cys)not specified [RCV004337963]uncertain significance5139837632139837632Humanname
401895654CV2768150single nucleotide variantNM_032289.4(PSD2):c.1478C>T (p.Thr493Met)not specified [RCV004350164]uncertain significance5139836885139836885Humanname
401893977CV2770179single nucleotide variantNM_032289.4(PSD2):c.2182C>G (p.Arg728Gly)not specified [RCV004356073]uncertain significance5139842340139842340Humanname
401887730CV2772118single nucleotide variantNM_015310.4(PSD3):c.1714G>A (p.Glu572Lys)not specified [RCV004344770]uncertain significance81880481918804819Humanname
401882976CV2788697single nucleotide variantNM_012455.3(PSD4):c.2846C>T (p.Pro949Leu)not specified [RCV004361176]uncertain significance2113199159113199159Humanname
405661335CV3378280single nucleotide variantNM_032289.4(PSD2):c.1604G>A (p.Gly535Glu)not specified [RCV004513054]uncertain significance5139837177139837177Humanname
405661338CV3378281single nucleotide variantNM_032289.4(PSD2):c.2183G>A (p.Arg728Gln)not specified [RCV004513055]uncertain significance5139842341139842341Humanname
405661359CV3378289single nucleotide variantNM_015310.4(PSD3):c.1712C>A (p.Pro571Gln)not specified [RCV004513063]uncertain significance81880482118804821Humanname
405661364CV3378291single nucleotide variantNM_015310.4(PSD3):c.2255C>G (p.Thr752Ser)not specified [RCV004513065]uncertain significance81863276818632768Humanname
405661368CV3378292single nucleotide variantNM_015310.4(PSD3):c.2489A>C (p.Tyr830Ser)not specified [RCV004513066]uncertain significance81857527818575278Humanname
405661371CV3378293single nucleotide variantNM_015310.4(PSD3):c.2606C>G (p.Thr869Ser)not specified [RCV004513067]uncertain significance81857516118575161Humanname
405661375CV3378294single nucleotide variantNM_015310.4(PSD3):c.2647G>A (p.Glu883Lys)not specified [RCV004513068]uncertain significance81857266518572665Humanname
405661378CV3378295single nucleotide variantNM_015310.4(PSD3):c.2823G>T (p.Gln941His)not specified [RCV004513069]uncertain significance81855631418556314Humanname
405661386CV3378298single nucleotide variantNM_012455.3(PSD4):c.1801T>C (p.Phe601Leu)not specified [RCV004513072]uncertain significance2113192552113192552Humanname
405661392CV3378300single nucleotide variantNM_012455.3(PSD4):c.2264C>T (p.Pro755Leu)not specified [RCV004513074]likely benign2113196185113196185Humanname
405661394CV3378301single nucleotide variantNM_012455.3(PSD4):c.2443C>T (p.Leu815Phe)not specified [RCV004513075]uncertain significance2113197620113197620Humanname
405661398CV3378302single nucleotide variantNM_012455.3(PSD4):c.2518G>A (p.Val840Met)not specified [RCV004513076]uncertain significance2113197807113197807Humanname
405661401CV3378303single nucleotide variantNM_012455.3(PSD4):c.2960A>G (p.His987Arg)not specified [RCV004513077]uncertain significance2113201204113201204Humanname
407490865CV3471739single nucleotide variantNM_032289.4(PSD2):c.2210A>T (p.Glu737Val)not specified [RCV004666725]uncertain significance5139842368139842368Humanname
407531480CV3471742single nucleotide variantNM_032289.4(PSD2):c.1930C>T (p.Arg644Trp)not specified [RCV004657633]uncertain significance5139838734139838734Humanname
407490871CV3471743single nucleotide variantNM_032289.4(PSD2):c.1735C>G (p.Leu579Val)not specified [RCV004666727]uncertain significance5139837694139837694Humanname
407490874CV3471744single nucleotide variantNM_032289.4(PSD2):c.1000C>T (p.Arg334Trp)not specified [RCV004666728]uncertain significance5139814348139814348Humanname
407531482CV3471746single nucleotide variantNM_032289.4(PSD2):c.1957C>T (p.Arg653Cys)not specified [RCV004657634]uncertain significance5139838761139838761Humanname
407531484CV3471747single nucleotide variantNM_032289.4(PSD2):c.2231G>A (p.Arg744Gln)not specified [RCV004657635]uncertain significance5139842389139842389Humanname
407531490CV3471750single nucleotide variantNM_015310.4(PSD3):c.2228A>C (p.Glu743Ala)not specified [RCV004657638]uncertain significance81863279518632795Humanname
407490880CV3471752single nucleotide variantNM_015310.4(PSD3):c.2659G>A (p.Gly887Arg)not specified [RCV004666730]uncertain significance81857265318572653Humanname
407531494CV3471753single nucleotide variantNM_015310.4(PSD3):c.2327A>G (p.Asp776Gly)not specified [RCV004657640]uncertain significance81863269618632696Humanname
407531496CV3471754single nucleotide variantNM_015310.4(PSD3):c.1705G>C (p.Glu569Gln)not specified [RCV004657641]uncertain significance81880482818804828Humanname
407531499CV3471755single nucleotide variantNM_015310.4(PSD3):c.1931C>G (p.Ser644Cys)not specified [RCV004657642]uncertain significance81880136218801362Humanname
407490883CV3471756single nucleotide variantNM_015310.4(PSD3):c.2041A>G (p.Thr681Ala)not specified [RCV004666731]uncertain significance81879933618799336Humanname
407531501CV3471757single nucleotide variantNM_012455.3(PSD4):c.1715C>T (p.Pro572Leu)not specified [RCV004657643]uncertain significance2113192466113192466Humanname
407531503CV3471758single nucleotide variantNM_012455.3(PSD4):c.2045C>G (p.Thr682Ser)not specified [RCV004657644]uncertain significance2113193604113193604Humanname
407531505CV3471759single nucleotide variantNM_012455.3(PSD4):c.1654T>A (p.Ser552Thr)not specified [RCV004657645]uncertain significance2113192405113192405Humanname
407531507CV3471760single nucleotide variantNM_012455.3(PSD4):c.2602C>T (p.Arg868Cys)not specified [RCV004657646]uncertain significance2113197891113197891Humanname
597772848CV3581842single nucleotide variantNM_032289.4(PSD2):c.1001G>A (p.Arg334Gln)not specified [RCV004851608]uncertain significance5139814349139814349Humanname
597772858CV3581844single nucleotide variantNM_032289.4(PSD2):c.1661A>G (p.Gln554Arg)not specified [RCV004851610]uncertain significance5139837234139837234Humanname
597772862CV3581845single nucleotide variantNM_032289.4(PSD2):c.2275G>C (p.Gly759Arg)not specified [RCV004851611]uncertain significance5139842433139842433Humanname
597772877CV3581848single nucleotide variantNM_032289.4(PSD2):c.2110G>A (p.Glu704Lys)not specified [RCV004851614]uncertain significance5139840168139840168Humanname
597772886CV3581850single nucleotide variantNM_032289.4(PSD2):c.1169G>A (p.Arg390His)not specified [RCV004851616]uncertain significance5139821964139821964Humanname
597772891CV3581851single nucleotide variantNM_015310.4(PSD3):c.1771C>T (p.Arg591Cys)not specified [RCV004851617]uncertain significance81880476218804762Humanname
597772901CV3581853single nucleotide variantNM_015310.4(PSD3):c.2849G>A (p.Arg950His)not specified [RCV004851619]uncertain significance81855628818556288Humanname
597772906CV3581854single nucleotide variantNM_015310.4(PSD3):c.2548G>A (p.Ala850Thr)not specified [RCV004851620]uncertain significance81857521918575219Humanname
597772911CV3581856single nucleotide variantNM_015310.4(PSD3):c.2129A>G (p.Gln710Arg)not specified [RCV004851621]uncertain significance81876549218765492Humanname
597772916CV3581857single nucleotide variantNM_015310.4(PSD3):c.2717C>G (p.Ala906Gly)not specified [RCV004851622]uncertain significance81857259518572595Humanname
597772921CV3581858single nucleotide variantNM_015310.4(PSD3):c.1872T>G (p.Phe624Leu)not specified [RCV004851623]uncertain significance81880456018804560Humanname
597772926CV3581859single nucleotide variantNM_015310.4(PSD3):c.2074C>T (p.His692Tyr)not specified [RCV004851624]uncertain significance81879930318799303Humanname
597772933CV3581860single nucleotide variantNM_015310.4(PSD3):c.2305A>T (p.Ser769Cys)not specified [RCV004851625]uncertain significance81863271818632718Humanname
597772938CV3581861single nucleotide variantNM_015310.4(PSD3):c.1804G>A (p.Asp602Asn)not specified [RCV004851626]uncertain significance81880472918804729Humanname
597772947CV3581863single nucleotide variantNM_012455.3(PSD4):c.1993C>T (p.Arg665Cys)not specified [RCV004851628]uncertain significance2113193331113193331Humanname
597772953CV3581864single nucleotide variantNM_012455.3(PSD4):c.2860C>G (p.Arg954Gly)not specified [RCV004851629]uncertain significance2113199173113199173Humanname
597772958CV3581866single nucleotide variantNM_012455.3(PSD4):c.2192G>T (p.Trp731Leu)not specified [RCV004851630]uncertain significance2113195737113195737Humanname
597772962CV3581867single nucleotide variantNM_012455.3(PSD4):c.2494G>A (p.Val832Met)not specified [RCV004851631]uncertain significance2113197783113197783Humanname
598162328CV3898020single nucleotide variantNM_032289.4(PSD2):c.2053G>A (p.Gly685Ser)not specified [RCV005261358]uncertain significance5139840111139840111Humanname
598162338CV3898022single nucleotide variantNM_032289.4(PSD2):c.2117G>A (p.Ser706Asn)not specified [RCV005261360]uncertain significance5139842275139842275Humanname
598162343CV3898023single nucleotide variantNM_032289.4(PSD2):c.2084G>A (p.Arg695Gln)not specified [RCV005261361]uncertain significance5139840142139840142Humanname
598162349CV3898024single nucleotide variantNM_032289.4(PSD2):c.2114A>G (p.Lys705Arg)not specified [RCV005261362]uncertain significance5139842272139842272Humanname
598162354CV3898025single nucleotide variantNM_032289.4(PSD2):c.1815C>G (p.Phe605Leu)not specified [RCV005261363]uncertain significance5139837774139837774Humanname
598162360CV3898026single nucleotide variantNM_015310.4(PSD3):c.2087T>C (p.Ile696Thr)not specified [RCV005261364]uncertain significance81876553418765534Humanname
598162364CV3898027single nucleotide variantNM_015310.4(PSD3):c.2946G>A (p.Met982Ile)not specified [RCV005261365]likely benign81853594118535941Humanname
598162370CV3898028single nucleotide variantNM_015310.4(PSD3):c.1822G>C (p.Gly608Arg)not specified [RCV005261366]uncertain significance81880471118804711Humanname
598162378CV3898029single nucleotide variantNM_015310.4(PSD3):c.1794C>G (p.Phe598Leu)not specified [RCV005261367]uncertain significance81880473918804739Humanname
598162384CV3898030single nucleotide variantNM_015310.4(PSD3):c.2548G>T (p.Ala850Ser)not specified [RCV005261368]uncertain significance81857521918575219Humanname
598162389CV3898031single nucleotide variantNM_015310.4(PSD3):c.2252G>A (p.Ser751Asn)not specified [RCV005261369]uncertain significance81863277118632771Humanname
598162395CV3898032single nucleotide variantNM_015310.4(PSD3):c.1853C>A (p.Ala618Glu)not specified [RCV005261370]uncertain significance81880457918804579Humanname
598162400CV3898033single nucleotide variantNM_015310.4(PSD3):c.2308A>G (p.Thr770Ala)not specified [RCV005261371]uncertain significance81863271518632715Humanname
598162406CV3898034single nucleotide variantNM_015310.4(PSD3):c.2487A>C (p.Glu829Asp)not specified [RCV005261372]uncertain significance81857528018575280Humanname
598162413CV3898035single nucleotide variantNM_012455.3(PSD4):c.1337C>G (p.Pro446Arg)not specified [RCV005261373]uncertain significance2113185964113185964Humanname
598162419CV3898036single nucleotide variantNM_012455.3(PSD4):c.2927A>G (p.Glu976Gly)not specified [RCV005261374]uncertain significance2113201171113201171Humanname
598162431CV3898038single nucleotide variantNM_012455.3(PSD4):c.1244A>G (p.Asp415Gly)not specified [RCV005261376]uncertain significance2113185435113185435Humanname
598162448CV3898041single nucleotide variantNM_012455.3(PSD4):c.1844A>G (p.Asp615Gly)not specified [RCV005261379]uncertain significance2113193053113193053Humanname
598162453CV3898042single nucleotide variantNM_012455.3(PSD4):c.2077G>C (p.Asp693His)not specified [RCV005261380]uncertain significance2113193636113193636Humanname
15170911CV700506single nucleotide variantNM_015310.4(PSD3):c.1925C>A (p.Ala642Glu)not provided [RCV000949737]benign81880136818801368Humanname
15197796CV700508single nucleotide variantNM_015310.4(PSD3):c.1147C>T (p.Arg383Cys)not provided [RCV000956566]benign81887171718871717Humanname
15202959CV700509single nucleotide variantNM_015310.4(PSD3):c.1046G>T (p.Gly349Val)not provided [RCV000958132]benign81887181818871818Humanname
15180189CV711434single nucleotide variantNM_015310.4(PSD3):c.1261G>T (p.Val421Phe)not provided [RCV000974091]benign81886804718868047Humanname
15149877CV736567single nucleotide variantNM_015310.4(PSD3):c.1594A>C (p.Ile532Leu)not provided [RCV000901030]benign81886771418867714Humanname
8629801CV84948single nucleotide variantNM_012455.2(PSD4):c.1141C>T (p.Leu381Phe)Malignant melanoma [RCV000065030]not provided2113185041113185041Humanname
8629802CV84949single nucleotide variantNM_012455.2(PSD4):c.1369G>A (p.Gly457Ser)Malignant melanoma [RCV000065031]not provided2113185996113185996Humanname
8629803CV84950single nucleotide variantNM_012455.2(PSD4):c.1370G>A (p.Gly457Asp)Malignant melanoma [RCV000065032]not provided2113185997113185997Humanname
156030814CV2202550single nucleotide variantNM_015310.4(PSD3):c.3023C>T (p.Ser1008Leu)not specified [RCV004080836]uncertain significance81853586418535864Humanname
156293418CV2233543single nucleotide variantNM_015310.4(PSD3):c.3050A>C (p.Asp1017Ala)not specified [RCV004100021]uncertain significance81853583718535837Humanname
156099416CV2250674single nucleotide variantNM_015310.4(PSD3):c.3026A>C (p.His1009Pro)not specified [RCV004129300]uncertain significance81853586118535861Humanname
156159437CV2262571single nucleotide variantNM_015310.4(PSD3):c.3047C>T (p.Pro1016Leu)not specified [RCV004130779]uncertain significance81853584018535840Humanname
155916235CV2336110single nucleotide variantNM_012455.3(PSD4):c.3023G>C (p.Arg1008Pro)not specified [RCV004189705]uncertain significance2113201267113201267Humanname
156071289CV2337747single nucleotide variantNM_015310.4(PSD3):c.3107G>A (p.Arg1036Gln)not specified [RCV004183768]uncertain significance81853578018535780Humanname
401724452CV2677883single nucleotide variantNM_015310.4(PSD3):c.3080G>A (p.Arg1027His)not specified [RCV004294375]uncertain significance81853580718535807Humanname
401874518CV2774013single nucleotide variantNM_012455.3(PSD4):c.3081G>C (p.Glu1027Asp)not specified [RCV004358421]uncertain significance2113201325113201325Humanname
405661380CV3378296single nucleotide variantNM_015310.4(PSD3):c.3001G>A (p.Glu1001Lys)not specified [RCV004513070]uncertain significance81853588618535886Humanname
405661407CV3378305single nucleotide variantNM_012455.3(PSD4):c.3076G>A (p.Asp1026Asn)not specified [RCV004513079]uncertain significance2113201320113201320Humanname
405661410CV3378306single nucleotide variantNM_012455.3(PSD4):c.3158G>A (p.Arg1053His)not specified [RCV004513080]uncertain significance2113201402113201402Humanname
597772896CV3581852single nucleotide variantNM_015310.4(PSD3):c.3065C>G (p.Thr1022Ser)not specified [RCV004851618]uncertain significance81853582218535822Humanname
597772942CV3581862single nucleotide variantNM_012455.3(PSD4):c.3131A>C (p.Tyr1044Ser)not specified [RCV004851627]uncertain significance2113201375113201375Humanname
597772999CV3581874single nucleotide variantNM_012455.3(PSD4):c.3121C>T (p.Arg1041Cys)not specified [RCV004851638]uncertain significance2113201365113201365Humanname