Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


269 records found for search term Nos1
Refine Term:
Assembly:
    Chr  
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405266196CV3201916single nucleotide variantNM_000620.5(NOS1):c.*8C>TNOS1-related disorder [RCV003911405]benign12117215301117215301Humanname , trait , alternate_id
15176396CV730831single nucleotide variantNM_000620.5(NOS1):c.2649-9C>Tnot provided [RCV000884574]likely benign12117247531117247531Humanname
15196913CV730832single nucleotide variantNM_000620.5(NOS1):c.1941+8C>Tnot provided [RCV000889903]likely benign12117268035117268035Humanname
15103053CV760094single nucleotide variantNM_000620.5(NOS1):c.2367+7G>Cnot provided [RCV000915088]likely benign12117260458117260458Humanname
15102776CV777971single nucleotide variantNM_000620.5(NOS1):c.1524+7G>Anot provided [RCV000959350]likely benign12117280718117280718Humanname
15199728CV778052single nucleotide variantNM_000620.5(NOS1):c.3042-6C>TNOS1-related disorder [RCV003915931]|not provided [RCV000957121]benign12117234764117234764Humanname , trait , alternate_id
8634520CV89740single nucleotide variantNM_000620.4(NOS1):c.2137-1G>AMalignant melanoma [RCV000069837]not provided12117263975117263975Humanname
8653583CV130158single nucleotide variantNM_000620.4(NOS1):c.-420-4810C>TLung cancer [RCV000110645]uncertain significance12117336299117336299Humanname
156316127CV2193011single nucleotide variantNM_000620.5(NOS1):c.2532-2185A>Gnot specified [RCV004069562]uncertain significance12117255939117255939Humanname
401726142CV2699117single nucleotide variantNM_000620.5(NOS1):c.2532-2278C>Tnot specified [RCV004303625]uncertain significance12117256032117256032Humanname
405276406CV3193405single nucleotide variantNM_000620.5(NOS1):c.2532-2258C>TNOS1-related disorder [RCV003974572]benign12117256012117256012Humanname , trait , alternate_id
405273242CV3207199single nucleotide variantNM_000620.5(NOS1):c.2532-2233A>GNOS1-related disorder [RCV003914647]benign12117255987117255987Humanname , trait , alternate_id
405290242CV3221281single nucleotide variantNM_000620.5(NOS1):c.2532-2256C>ANOS1-related disorder [RCV003962196]benign12117256010117256010Humanname , trait , alternate_id
405678350CV3355696single nucleotide variantNM_000620.5(NOS1):c.2532-2218T>Anot specified [RCV004488146]uncertain significance12117255972117255972Humanname
407498198CV3469175single nucleotide variantNM_000620.5(NOS1):c.2532-2255C>Tnot specified [RCV004643940]uncertain significance12117256009117256009Humanname
15193947CV753135single nucleotide variantNM_000620.5(NOS1):c.6G>A (p.Glu2=)not provided [RCV000910985]likely benign12117331064117331064Humanname
156392160CV2378330single nucleotide variantNM_000620.5(NOS1):c.19G>A (p.Gly7Ser)not specified [RCV004226357]likely benign12117331051117331051Humanname
597673559CV3563236single nucleotide variantNM_000620.5(NOS1):c.15G>A (p.Met5Ile)not specified [RCV004830074]uncertain significance12117331055117331055Humanname
15139131CV713367single nucleotide variantNM_000620.5(NOS1):c.273C>T (p.Thr91=)NOS1-related disorder [RCV003960773]|not provided [RCV000965913]benign12117330797117330797Humanname , trait , alternate_id
15117405CV753133single nucleotide variantNM_000620.5(NOS1):c.267T>C (p.Ser89=)not provided [RCV000917789]likely benign12117330803117330803Humanname
15119361CV753134single nucleotide variantNM_000620.5(NOS1):c.120C>T (p.Pro40=)not provided [RCV000918132]likely benign12117330950117330950Humanname
15106187CV784284single nucleotide variantNM_000620.5(NOS1):c.111T>C (p.Ser37=)not provided [RCV000976584]likely benign12117330959117330959Humanname
155907246CV2389816single nucleotide variantNM_000620.5(NOS1):c.56G>A (p.Arg19His)not specified [RCV004236042]uncertain significance12117331014117331014Humanname
405275049CV3204615single nucleotide variantNM_000620.5(NOS1):c.987G>A (p.Thr329=)NOS1-related disorder [RCV003952025]likely benign12117288214117288214Humanname , trait , alternate_id
405270894CV3212193single nucleotide variantNM_000620.5(NOS1):c.432A>G (p.Glu144=)NOS1-related disorder [RCV003949550]likely benign12117330638117330638Humanname , trait , alternate_id
15139125CV713365single nucleotide variantNM_000620.5(NOS1):c.420G>A (p.Pro140=)NOS1-related disorder [RCV003926268]|not provided [RCV000965912]benign12117330650117330650Humanname , trait , alternate_id
15121858CV713366single nucleotide variantNM_000620.5(NOS1):c.336A>G (p.Thr112=)not provided [RCV000962970]likely benign12117330734117330734Humanname
15150152CV724914single nucleotide variantNM_000620.5(NOS1):c.765C>T (p.Gly255=)not provided [RCV000879317]benign12117311553117311553Humanname
15191440CV768899single nucleotide variantNM_000620.5(NOS1):c.819C>T (p.Val273=)not provided [RCV000932802]likely benign12117311499117311499Humanname
15142288CV768900single nucleotide variantNM_000620.5(NOS1):c.795A>G (p.Leu265=)not provided [RCV000944052]likely benign12117311523117311523Humanname
15144462CV784283single nucleotide variantNM_000620.5(NOS1):c.459G>A (p.Ser153=)not provided [RCV000983495]likely benign12117330611117330611Humanname
156156278CV2359823single nucleotide variantNM_000620.5(NOS1):c.110G>A (p.Ser37Asn)not specified [RCV004212678]uncertain significance12117330960117330960Humanname
329399224CV2436224single nucleotide variantNM_000620.5(NOS1):c.294G>C (p.Arg98Ser)not specified [RCV004249851]uncertain significance12117330776117330776Humanname
401932470CV2816916single nucleotide variantNM_000620.5(NOS1):c.1425C>T (p.His475=)NOS1-related disorder [RCV003906739]|not provided [RCV003392066]benign12117280824117280824Humanname , trait , alternate_id
405290963CV3197216single nucleotide variantNM_000620.5(NOS1):c.2706C>T (p.His902=)NOS1-related disorder [RCV003984779]benign12117247465117247465Humanname , trait , alternate_id
405280514CV3200795single nucleotide variantNM_000620.5(NOS1):c.2202T>C (p.Ile734=)NOS1-related disorder [RCV003977420]benign12117263909117263909Humanname , trait , alternate_id
405285450CV3212524single nucleotide variantNM_000620.5(NOS1):c.1596C>T (p.Asn532=)NOS1-related disorder [RCV003959106]likely benign12117278027117278027Humanname , trait , alternate_id
405292761CV3217450single nucleotide variantNM_000620.5(NOS1):c.2154G>A (p.Thr718=)NOS1-related disorder [RCV003964741]likely benign12117263957117263957Humanname , trait , alternate_id
405278584CV3220334single nucleotide variantNM_000620.5(NOS1):c.2601C>T (p.Pro867=)NOS1-related disorder [RCV003976562]benign12117253685117253685Humanname , trait , alternate_id
405266005CV3221035single nucleotide variantNM_000620.5(NOS1):c.2661T>C (p.Phe887=)NOS1-related disorder [RCV003969167]likely benign12117247510117247510Humanname , trait , alternate_id
405678332CV3355691single nucleotide variantNM_000620.5(NOS1):c.143G>A (p.Arg48His)not specified [RCV004488141]uncertain significance12117330927117330927Humanname
405678339CV3355693single nucleotide variantNM_000620.5(NOS1):c.154G>A (p.Ala52Thr)not specified [RCV004488143]uncertain significance12117330916117330916Humanname
408367282CV3509874single nucleotide variantNM_000620.5(NOS1):c.1689G>A (p.Gly563=)NOS1-related disorder [RCV004758357]likely benign12117272535117272535Humanname , trait , alternate_id
15179570CV713360single nucleotide variantNM_000620.5(NOS1):c.1803C>T (p.Arg601=)not provided [RCV000973941]likely benign12117272421117272421Humanname
15147187CV713362single nucleotide variantNM_000620.5(NOS1):c.1461C>T (p.Tyr487=)NOS1-related disorder [RCV003936037]|not provided [RCV000967291]benign12117280788117280788Humanname , trait , alternate_id
15161190CV724912single nucleotide variantNM_000620.5(NOS1):c.2721C>T (p.Leu907=)NOS1-related disorder [RCV003955835]|not provided [RCV000881527]benign12117247450117247450Humanname , trait , alternate_id
15203281CV753128single nucleotide variantNM_000620.5(NOS1):c.2502G>A (p.Arg834=)not provided [RCV000913826]likely benign12117258426117258426Humanname
15197276CV753129single nucleotide variantNM_000620.5(NOS1):c.2313G>A (p.Ser771=)not provided [RCV000911931]likely benign12117260519117260519Humanname
15119354CV753130single nucleotide variantNM_000620.5(NOS1):c.1905G>C (p.Leu635=)not provided [RCV000918131]likely benign12117268079117268079Humanname
15107519CV753131single nucleotide variantNM_000620.5(NOS1):c.1401C>T (p.Phe467=)not provided [RCV000915973]likely benign12117280848117280848Humanname
15163602CV753132single nucleotide variantNM_000620.5(NOS1):c.1107A>G (p.Gln369=)NOS1-related disorder [RCV003960448]|not provided [RCV000926167]likely benign12117288094117288094Humanname , trait , alternate_id
15133472CV768897single nucleotide variantNM_000620.5(NOS1):c.2856T>C (p.Asp952=)not provided [RCV000942573]likely benign12117243403117243403Humanname
15194179CV768898single nucleotide variantNM_000620.5(NOS1):c.1572C>A (p.Val524=)NOS1-related disorder [RCV003970584]|not provided [RCV000933570]likely benign12117278051117278051Humanname , trait , alternate_id
15127528CV784282single nucleotide variantNM_000620.5(NOS1):c.1056C>T (p.Asp352=)not provided [RCV000980560]likely benign12117288145117288145Humanname
8634521CV89741single nucleotide variantNM_000620.4(NOS1):c.1269G>A (p.Arg423=)Malignant melanoma [RCV000069838]not provided12117286125117286125Humanname
155923575CV2280329single nucleotide variantNM_000620.5(NOS1):c.341A>T (p.Asp114Val)not specified [RCV004140522]uncertain significance12117330729117330729Humanname
155990675CV2280981single nucleotide variantNM_000620.5(NOS1):c.911G>A (p.Arg304His)not specified [RCV004145484]uncertain significance12117290368117290368Humanname
155993861CV2286346single nucleotide variantNM_000620.5(NOS1):c.500A>G (p.Gln167Arg)not specified [RCV004146293]uncertain significance12117330570117330570Humanname
155907850CV2302303single nucleotide variantNM_000620.5(NOS1):c.829A>G (p.Asn277Asp)not specified [RCV004161066]uncertain significance12117311489117311489Humanname
156196111CV2319051single nucleotide variantNM_000620.5(NOS1):c.599G>A (p.Gly200Glu)not specified [RCV004178133]uncertain significance12117330471117330471Humanname
156171748CV2337540single nucleotide variantNM_000620.5(NOS1):c.820G>A (p.Val274Ile)not specified [RCV004187969]uncertain significance12117311498117311498Humanname
156329262CV2342380single nucleotide variantNM_000620.5(NOS1):c.659G>A (p.Ser220Asn)not specified [RCV004191946]uncertain significance12117330411117330411Humanname
155924559CV2358172single nucleotide variantNM_000620.5(NOS1):c.766G>A (p.Val256Met)not specified [RCV004211972]uncertain significance12117311552117311552Humanname
329388448CV2437419single nucleotide variantNM_000620.5(NOS1):c.788A>G (p.Asn263Ser)not specified [RCV004256287]uncertain significance12117311530117311530Humanname
329353364CV2468972single nucleotide variantNM_000620.5(NOS1):c.485C>T (p.Ala162Val)not specified [RCV004274238]uncertain significance12117330585117330585Humanname
401770609CV2685801single nucleotide variantNM_000620.5(NOS1):c.334A>G (p.Thr112Ala)not specified [RCV004294790]uncertain significance12117330736117330736Humanname
401721860CV2710201single nucleotide variantNM_000620.5(NOS1):c.804G>T (p.Lys268Asn)not specified [RCV004317104]uncertain significance12117311514117311514Humanname
401725014CV2735809single nucleotide variantNM_000620.5(NOS1):c.784T>G (p.Phe262Val)not provided [RCV003312252]likely benign12117311534117311534Humanname
401890055CV2763611single nucleotide variantNM_000620.5(NOS1):c.397G>A (p.Val133Met)not specified [RCV004343120]uncertain significance12117330673117330673Humanname
401870736CV2769317single nucleotide variantNM_000620.5(NOS1):c.899C>T (p.Ser300Phe)not specified [RCV004357314]uncertain significance12117290380117290380Humanname
401882446CV2781517single nucleotide variantNM_000620.5(NOS1):c.599G>C (p.Gly200Ala)not specified [RCV004354748]uncertain significance12117330471117330471Humanname
401932468CV2816913single nucleotide variantNM_000620.5(NOS1):c.4287T>C (p.Asp1429=)not provided [RCV003392064]likely benign12117218048117218048Humanname
401932469CV2816914single nucleotide variantNM_000620.5(NOS1):c.3048A>C (p.Ser1016=)not provided [RCV003392065]likely benign12117234752117234752Humanname
405281255CV3190743single nucleotide variantNM_000620.5(NOS1):c.559C>T (p.Pro187Ser)NOS1-related disorder [RCV003907178]likely benign12117330511117330511Humanname , trait , alternate_id
405284789CV3190844single nucleotide variantNM_000620.5(NOS1):c.3159C>T (p.Ile1053=)NOS1-related disorder [RCV003909410]likely benign12117234641117234641Humanname , trait , alternate_id
405288422CV3197433single nucleotide variantNM_000620.5(NOS1):c.3258C>T (p.Asp1086=)NOS1-related disorder [RCV003982529]benign12117232109117232109Human5name , trait , alternate_id
405266367CV3211828single nucleotide variantNM_000620.5(NOS1):c.3225C>T (p.Asn1075=)NOS1-related disorder [RCV003947112]likely benign12117234575117234575Humanname , trait , alternate_id
405287765CV3217904single nucleotide variantNM_000620.5(NOS1):c.4059C>A (p.Val1353=)NOS1-related disorder [RCV003982027]benign12117220186117220186Humanname , trait , alternate_id
405678388CV3355705single nucleotide variantNM_000620.5(NOS1):c.520C>G (p.His174Asp)not specified [RCV004488155]uncertain significance12117330550117330550Humanname
405678393CV3355706single nucleotide variantNM_000620.5(NOS1):c.647T>C (p.Leu216Pro)not specified [RCV004488156]uncertain significance12117330423117330423Humanname
405678397CV3355707single nucleotide variantNM_000620.5(NOS1):c.769G>C (p.Glu257Gln)not specified [RCV004488157]uncertain significance12117311549117311549Humanname
405678402CV3355708single nucleotide variantNM_000620.5(NOS1):c.904T>C (p.Cys302Arg)not specified [RCV004488158]uncertain significance12117290375117290375Humanname
407509947CV3469173single nucleotide variantNM_000620.5(NOS1):c.335C>T (p.Thr112Ile)not specified [RCV004647552]uncertain significance12117330735117330735Humanname
407509970CV3469182single nucleotide variantNM_000620.5(NOS1):c.490G>A (p.Asp164Asn)not specified [RCV004647559]uncertain significance12117330580117330580Humanname
407498206CV3469183single nucleotide variantNM_000620.5(NOS1):c.782T>C (p.Val261Ala)not specified [RCV004643942]uncertain significance12117311536117311536Humanname
597673533CV3563233single nucleotide variantNM_000620.5(NOS1):c.740A>G (p.Lys247Arg)not specified [RCV004830071]uncertain significance12117311578117311578Humanname
598240502CV4000735single nucleotide variantNM_000620.5(NOS1):c.803A>T (p.Lys268Met)not specified [RCV005383086]uncertain significance12117311515117311515Humanname
598240496CV4000738single nucleotide variantNM_000620.5(NOS1):c.362G>C (p.Arg121Pro)not specified [RCV005383087]uncertain significance12117330708117330708Humanname
598207529CV4000741single nucleotide variantNM_000620.5(NOS1):c.580G>A (p.Val194Ile)not specified [RCV005377092]uncertain significance12117330490117330490Humanname
15190423CV702154single nucleotide variantNM_000620.5(NOS1):c.3522G>A (p.Leu1174=)NOS1-related disorder [RCV003915842]|not provided [RCV000954470]benign12117227525117227525Humanname , trait , alternate_id
15181768CV713356single nucleotide variantNM_000620.5(NOS1):c.4047C>A (p.Gly1349=)not provided [RCV000974473]likely benign12117220198117220198Humanname
15165090CV713357single nucleotide variantNM_000620.5(NOS1):c.3066C>G (p.Leu1022=)NOS1-related disorder [RCV003918446]|not provided [RCV000970876]benign12117234734117234734Humanname , trait , alternate_id
15176736CV713363single nucleotide variantNM_000620.5(NOS1):c.721G>A (p.Asp241Asn)NOS1-related disorder [RCV003906056]|not provided [RCV000973255]benign|likely benign12117330349117330349Humanname , trait , alternate_id
15157263CV713364single nucleotide variantNM_000620.5(NOS1):c.458C>T (p.Ser153Leu)NOS1-related disorder [RCV003905974]|not provided [RCV000969276]benign12117330612117330612Humanname , trait , alternate_id
15169877CV724910single nucleotide variantNM_000620.5(NOS1):c.3453C>T (p.Ile1151=)NOS1-related disorder [RCV003910422]|not provided [RCV000883362]benign12117227594117227594Humanname , trait , alternate_id
15198173CV724911single nucleotide variantNM_000620.5(NOS1):c.3330G>A (p.Thr1110=)NOS1-related disorder [RCV003910570]|not provided [RCV000890275]likely benign12117232037117232037Humanname , trait , alternate_id
15177975CV738467single nucleotide variantNM_000620.5(NOS1):c.3894G>A (p.Arg1298=)not provided [RCV000906769]likely benign12117222796117222796Humanname
15176311CV738468single nucleotide variantNM_000620.5(NOS1):c.3858C>T (p.Phe1286=)not provided [RCV000906403]likely benign12117222832117222832Humanname
15176378CV738469single nucleotide variantNM_000620.5(NOS1):c.3306C>T (p.Tyr1102=)not provided [RCV000906417]likely benign12117232061117232061Humanname
15129186CV738470single nucleotide variantNM_000620.5(NOS1):c.3177G>A (p.Ala1059=)not provided [RCV000897398]benign12117234623117234623Humanname
15103178CV753125single nucleotide variantNM_000620.5(NOS1):c.3678C>T (p.Asp1226=)not provided [RCV000915114]likely benign12117226709117226709Humanname
15201815CV753126single nucleotide variantNM_000620.5(NOS1):c.3477A>G (p.Pro1159=)not provided [RCV000913253]likely benign12117227570117227570Humanname
15138350CV753127single nucleotide variantNM_000620.5(NOS1):c.3420C>T (p.Tyr1140=)not provided [RCV000921317]likely benign12117227627117227627Humanname
15129634CV784281single nucleotide variantNM_000620.5(NOS1):c.4011G>A (p.Ala1337=)not provided [RCV000980908]likely benign12117220234117220234Humanname
8627195CV82339single nucleotide variantNM_000620.4(NOS1):c.866G>A (p.Gly289Glu)Malignant melanoma [RCV000062418]not provided12117290413117290413Humanname
8634519CV89739single nucleotide variantNM_000620.4(NOS1):c.4185C>T (p.Tyr1395=)Malignant melanoma [RCV000069836]not provided12117218150117218150Humanname
8634522CV89742single nucleotide variantNM_000620.4(NOS1):c.556G>A (p.Asp186Asn)Malignant melanoma [RCV000069839]not provided12117330514117330514Humanname
156035724CV2208229single nucleotide variantNM_000620.5(NOS1):c.2303C>T (p.Thr768Ile)not specified [RCV004088685]uncertain significance12117260529117260529Humanname
156142165CV2208502single nucleotide variantNM_000620.5(NOS1):c.1313C>A (p.Thr438Asn)not specified [RCV004091034]uncertain significance12117285310117285310Humanname
156187405CV2226682single nucleotide variantNM_000620.5(NOS1):c.2176G>A (p.Gly726Arg)not specified [RCV004101913]uncertain significance12117263935117263935Humanname
156307051CV2252805single nucleotide variantNM_000620.5(NOS1):c.1858A>G (p.Asn620Asp)not specified [RCV004118644]uncertain significance12117268126117268126Humanname
156183727CV2255375single nucleotide variantNM_000620.5(NOS1):c.1172A>G (p.Lys391Arg)not specified [RCV004117744]uncertain significance12117286222117286222Humanname
156312712CV2256914single nucleotide variantNM_000620.5(NOS1):c.1043G>A (p.Arg348Lys)not specified [RCV004121115]uncertain significance12117288158117288158Humanname
156171950CV2286792single nucleotide variantNM_000620.5(NOS1):c.2101C>T (p.Leu701Phe)not specified [RCV004142596]uncertain significance12117265351117265351Humanname
155935926CV2380166single nucleotide variantNM_000620.5(NOS1):c.2021G>A (p.Arg674Gln)not specified [RCV004224535]uncertain significance12117265431117265431Humanname
329380604CV2464243single nucleotide variantNM_000620.5(NOS1):c.2064G>A (p.Met688Ile)not specified [RCV004276211]uncertain significance12117265388117265388Humanname
401742958CV2697978single nucleotide variantNM_000620.5(NOS1):c.1416C>G (p.Asp472Glu)not specified [RCV004302465]uncertain significance12117280833117280833Humanname
401874705CV2756006single nucleotide variantNM_000620.5(NOS1):c.2863A>G (p.Ile955Val)not specified [RCV004338134]uncertain significance12117243396117243396Humanname
401873726CV2757730single nucleotide variantNM_000620.5(NOS1):c.2596G>A (p.Gly866Arg)not specified [RCV004336881]uncertain significance12117253690117253690Humanname
401863829CV2773381single nucleotide variantNM_000620.5(NOS1):c.1339A>T (p.Ile447Phe)not specified [RCV004354029]uncertain significance12117285284117285284Humanname
401929638CV2816915single nucleotide variantNM_000620.5(NOS1):c.2479G>A (p.Gly827Ser)not provided [RCV003390313]likely benign12117258449117258449Humanname
405678327CV3355690single nucleotide variantNM_000620.5(NOS1):c.1061G>A (p.Arg354His)not specified [RCV004488140]uncertain significance12117288140117288140Humanname
405678336CV3355692single nucleotide variantNM_000620.5(NOS1):c.1514A>C (p.Gln505Pro)not specified [RCV004488142]uncertain significance12117280735117280735Humanname
405678342CV3355694single nucleotide variantNM_000620.5(NOS1):c.1877C>T (p.Thr626Met)not specified [RCV004488144]uncertain significance12117268107117268107Humanname
405678347CV3355695single nucleotide variantNM_000620.5(NOS1):c.2278G>A (p.Ala760Thr)not specified [RCV004488145]uncertain significance12117260554117260554Humanname
405678355CV3355697single nucleotide variantNM_000620.5(NOS1):c.2972A>G (p.Asn991Ser)not specified [RCV004488147]likely benign12117242696117242696Humanname
407509950CV3469174single nucleotide variantNM_000620.5(NOS1):c.1417G>A (p.Gly473Ser)not specified [RCV004647553]uncertain significance12117280832117280832Humanname
407509961CV3469178single nucleotide variantNM_000620.5(NOS1):c.2534G>A (p.Ser845Asn)not specified [RCV004647556]uncertain significance12117253752117253752Humanname
407509964CV3469179single nucleotide variantNM_000620.5(NOS1):c.1597G>A (p.Gly533Ser)not specified [RCV004647557]uncertain significance12117278026117278026Humanname
407509967CV3469180single nucleotide variantNM_000620.5(NOS1):c.2899C>T (p.Arg967Cys)not specified [RCV004647558]uncertain significance12117243360117243360Humanname
407498202CV3469181single nucleotide variantNM_000620.5(NOS1):c.2705A>G (p.His902Arg)not specified [RCV004643941]uncertain significance12117247466117247466Humanname
408367293CV3510133deletionNM_000620.5(NOS1):c.3020del (p.Asn1007fs)NOS1-related disorder [RCV004758368]uncertain significance12117242648117242648Humanname , trait , alternate_id
597673237CV3563225single nucleotide variantNM_000620.5(NOS1):c.2377A>G (p.Met793Val)not specified [RCV004830063]uncertain significance12117259121117259121Humanname
597673243CV3563226single nucleotide variantNM_000620.5(NOS1):c.2535C>A (p.Ser845Arg)not specified [RCV004830064]uncertain significance12117253751117253751Humanname
597673250CV3563227single nucleotide variantNM_000620.5(NOS1):c.1106A>G (p.Gln369Arg)not specified [RCV004830065]uncertain significance12117288095117288095Humanname
597673262CV3563228single nucleotide variantNM_000620.5(NOS1):c.2168G>T (p.Gly723Val)not specified [RCV004830066]uncertain significance12117263943117263943Humanname
597673504CV3563230single nucleotide variantNM_000620.5(NOS1):c.1223A>T (p.Tyr408Phe)not specified [RCV004830068]uncertain significance12117286171117286171Humanname
597673524CV3563232single nucleotide variantNM_000620.5(NOS1):c.1930T>A (p.Tyr644Asn)not specified [RCV004830070]uncertain significance12117268054117268054Humanname
597673542CV3563234single nucleotide variantNM_000620.5(NOS1):c.2914A>G (p.Asn972Asp)not specified [RCV004830072]uncertain significance12117243345117243345Humanname
597673568CV3563237single nucleotide variantNM_000620.5(NOS1):c.1957A>G (p.Ile653Val)not specified [RCV004830075]uncertain significance12117265495117265495Humanname
598207561CV4000733single nucleotide variantNM_000620.5(NOS1):c.2017T>A (p.Cys673Ser)not specified [RCV005377087]uncertain significance12117265435117265435Humanname
598240490CV4000740single nucleotide variantNM_000620.5(NOS1):c.1204A>G (p.Lys402Glu)not specified [RCV005383088]uncertain significance12117286190117286190Humanname
15191761CV702155single nucleotide variantNM_000620.5(NOS1):c.1181A>C (p.Asp394Ala)NOS1-related disorder [RCV003970771]|not provided [RCV000954872]benign|likely benign12117286213117286213Humanname , trait , alternate_id
15166940CV713358single nucleotide variantNM_000620.5(NOS1):c.2591G>A (p.Gly864Asp)NOS1-related disorder [RCV003936116]|not provided [RCV000971295]benign|likely benign12117253695117253695Humanname , trait , alternate_id
15175093CV713359single nucleotide variantNM_000620.5(NOS1):c.2173A>G (p.Asn725Asp)NOS1-related disorder [RCV003918513]|not provided [RCV000972863]benign12117263938117263938Humanname , trait , alternate_id
15171283CV713361single nucleotide variantNM_000620.5(NOS1):c.1783G>A (p.Gly595Ser)NOS1-related disorder [RCV003928530]|not provided [RCV000972167]benign|likely benign12117272441117272441Humanname , trait , alternate_id
15188119CV724913single nucleotide variantNM_000620.5(NOS1):c.1855A>T (p.Met619Leu)NOS1-related disorder [RCV003910505]|not provided [RCV000887441]likely benign|uncertain significance12117268129117268129Humanname , trait , alternate_id
15114366CV738471single nucleotide variantNM_000620.5(NOS1):c.2606T>C (p.Leu869Pro)not provided [RCV000894843]benign12117253680117253680Humanname
8627194CV82338single nucleotide variantNM_000620.4(NOS1):c.2312C>T (p.Ser771Leu)Malignant melanoma [RCV000062417]not provided12117260520117260520Humanname
10401368CV205061single nucleotide variantNM_000620.5(NOS1):c.3606C>G (p.Tyr1202Ter)not provided [RCV000190549]uncertain significance12117227441117227441Humanname
156257534CV2219895single nucleotide variantNM_000620.5(NOS1):c.4078G>T (p.Ala1360Ser)not specified [RCV004095525]uncertain significance12117220167117220167Humanname
156220991CV2222432single nucleotide variantNM_000620.5(NOS1):c.3259G>A (p.Glu1087Lys)not specified [RCV004099288]uncertain significance12117232108117232108Humanname
155917720CV2236632single nucleotide variantNM_000620.5(NOS1):c.3614G>A (p.Arg1205Gln)not specified [RCV004110607]uncertain significance12117227433117227433Humanname
156244836CV2243226single nucleotide variantNM_000620.5(NOS1):c.4018G>A (p.Val1340Met)not specified [RCV004110115]uncertain significance12117220227117220227Humanname
156184224CV2255426single nucleotide variantNM_000620.5(NOS1):c.3182C>T (p.Pro1061Leu)not specified [RCV004117783]uncertain significance12117234618117234618Humanname
156070448CV2267164single nucleotide variantNM_000620.5(NOS1):c.3908A>G (p.Gln1303Arg)not specified [RCV004133852]uncertain significance12117222782117222782Humanname
156161092CV2272562single nucleotide variantNM_000620.5(NOS1):c.3329C>T (p.Thr1110Met)not specified [RCV004133453]uncertain significance12117232038117232038Humanname
156333373CV2335979single nucleotide variantNM_000620.5(NOS1):c.3164G>A (p.Arg1055Gln)not specified [RCV004189588]uncertain significance12117234636117234636Humanname
156209640CV2370139single nucleotide variantNM_000620.5(NOS1):c.3608G>A (p.Arg1203His)not specified [RCV004211023]likely benign12117227439117227439Humanname
329370111CV2435478single nucleotide variantNM_000620.5(NOS1):c.3061C>T (p.Arg1021Cys)not specified [RCV004253124]uncertain significance12117234739117234739Humanname
401776400CV2692697single nucleotide variantNM_000620.5(NOS1):c.4291G>A (p.Val1431Ile)not specified [RCV004312411]uncertain significance12117215323117215323Humanname
401747676CV2696765single nucleotide variantNM_000620.5(NOS1):c.3676G>A (p.Asp1226Asn)not specified [RCV004290737]uncertain significance12117226711117226711Humanname
405278238CV3216453single nucleotide variantNM_000620.5(NOS1):c.4057G>A (p.Val1353Ile)NOS1-related disorder [RCV003954389]|not specified [RCV004828012]likely benign|uncertain significance12117220188117220188Humanname , trait , alternate_id
405678359CV3355698single nucleotide variantNM_000620.5(NOS1):c.3058G>A (p.Val1020Met)not specified [RCV004488148]uncertain significance12117234742117234742Humanname
405678361CV3355699single nucleotide variantNM_000620.5(NOS1):c.3637C>T (p.His1213Tyr)not specified [RCV004488149]uncertain significance12117226750117226750Humanname
405678365CV3355700single nucleotide variantNM_000620.5(NOS1):c.3769G>A (p.Gly1257Ser)not specified [RCV004488150]uncertain significance12117225073117225073Humanname
405678374CV3355702single nucleotide variantNM_000620.5(NOS1):c.4147G>A (p.Gly1383Ser)not specified [RCV004488152]uncertain significance12117220098117220098Humanname
405678379CV3355703single nucleotide variantNM_000620.5(NOS1):c.4234C>T (p.Arg1412Cys)not specified [RCV004488153]uncertain significance12117218101117218101Humanname
405678383CV3355704single nucleotide variantNM_000620.5(NOS1):c.4262T>C (p.Ile1421Thr)not specified [RCV004488154]uncertain significance12117218073117218073Humanname
407509957CV3469177single nucleotide variantNM_000620.5(NOS1):c.3491C>T (p.Pro1164Leu)not specified [RCV004647555]uncertain significance12117227556117227556Humanname
597673494CV3563229single nucleotide variantNM_000620.5(NOS1):c.3925G>A (p.Val1309Ile)not specified [RCV004830067]uncertain significance12117222765117222765Humanname
597673514CV3563231single nucleotide variantNM_000620.5(NOS1):c.3001C>T (p.Arg1001Trp)not specified [RCV004830069]uncertain significance12117242667117242667Humanname
597673550CV3563235single nucleotide variantNM_000620.5(NOS1):c.3539A>G (p.Tyr1180Cys)not specified [RCV004830073]uncertain significance12117227508117227508Humanname
598207556CV4000734single nucleotide variantNM_000620.5(NOS1):c.3265C>T (p.Arg1089Cys)not specified [RCV005377088]uncertain significance12117232102117232102Humanname
598207548CV4000736single nucleotide variantNM_000620.5(NOS1):c.3728G>A (p.Arg1243Gln)not specified [RCV005377089]uncertain significance12117225114117225114Humanname
598207542CV4000737single nucleotide variantNM_000620.5(NOS1):c.4105C>T (p.Arg1369Cys)not specified [RCV005377090]uncertain significance12117220140117220140Humanname
617153967CV4022076single nucleotide variantNM_000620.5(NOS1):c.4181G>A (p.Arg1394Gln)not provided [RCV005429130]not provided12117218154117218154Humanname
15171209CV738466single nucleotide variantNM_000620.5(NOS1):c.4264G>C (p.Glu1422Gln)not provided [RCV000905421]likely benign12117218071117218071Humanname
150466499CV1268783single nucleotide variantNM_014697.3(NOS1AP):c.-273C>Tnot provided [RCV001694480]benign1162069905162069905Humanname
127292475CV1162032single nucleotide variantNM_014697.3(NOS1AP):c.454-6T>Anot specified [RCV001526937]uncertain significance1162343829162343829Humanname
401867959CV2749160single nucleotide variantNM_014697.3(NOS1AP):c.596-5T>Gnot specified [RCV003331986]benign1162355182162355182Humanname
14691392CV621705single nucleotide variantNM_014697.3(NOS1AP):c.762+8A>Gnot specified [RCV000781668]uncertain significance1162355361162355361Humanname
41407722CV983543single nucleotide variantNM_014697.3(NOS1AP):c.345-3T>GNephrotic syndrome, type 22 [RCV001290109]pathogenic1162333014162333014Human1name
150337846CV1170619single nucleotide variantNM_014697.3(NOS1AP):c.454-28T>Cnot provided [RCV001541880]benign1162343807162343807Humanname
150433429CV1216907single nucleotide variantNM_014697.3(NOS1AP):c.270+55A>Gnot provided [RCV001608809]benign1162287491162287491Humanname
156451285CV2402678single nucleotide variantNM_014697.3(NOS1AP):c.453+18G>Anot specified [RCV003123484]uncertain significance1162333143162333143Humanname
150506252CV1213732single nucleotide variantNM_014697.3(NOS1AP):c.106-250G>Cnot provided [RCV001595989]benign1162154155162154155Humanname
150497394CV1219399single nucleotide variantNM_014697.3(NOS1AP):c.454-240T>Anot provided [RCV001620068]benign1162343595162343595Humanname
150481494CV1222173single nucleotide variantNM_014697.3(NOS1AP):c.345-242G>Anot provided [RCV001616971]benign1162332775162332775Humanname
150503882CV1223839single nucleotide variantNM_014697.3(NOS1AP):c.454-107A>Gnot provided [RCV001621488]benign1162343728162343728Humanname
150517072CV1227809single nucleotide variantNM_014697.3(NOS1AP):c.940-142C>Tnot provided [RCV001639612]benign1162365262162365262Humanname
150511692CV1229525single nucleotide variantNM_014697.3(NOS1AP):c.762+127G>Anot provided [RCV001637454]benign1162355480162355480Humanname
150508442CV1229645single nucleotide variantNM_014697.3(NOS1AP):c.762+226G>Anot provided [RCV001636223]benign1162355579162355579Humanname
150463526CV1235069single nucleotide variantNM_014697.3(NOS1AP):c.178-259A>Gnot provided [RCV001649651]benign1162287085162287085Humanname
150491661CV1239315single nucleotide variantNM_014697.3(NOS1AP):c.178-101C>Gnot provided [RCV001654883]benign1162287243162287243Humanname
150504555CV1240777single nucleotide variantNM_014697.3(NOS1AP):c.1105+65T>Cnot provided [RCV001657620]benign1162365634162365634Humanname
150496170CV1272815duplicationNM_014697.3(NOS1AP):c.270+264dupnot provided [RCV001688738]benign1162287694162287695Humanname
150443697CV1277892single nucleotide variantNM_014697.3(NOS1AP):c.270+265T>Cnot provided [RCV001707035]benign1162287701162287701Humanname
150495970CV1283122single nucleotide variantNM_014697.3(NOS1AP):c.345-118C>Tnot provided [RCV001717510]benign1162332899162332899Humanname
150444515CV1288033single nucleotide variantNM_014697.3(NOS1AP):c.345-172T>Cnot provided [RCV001725755]benign1162332845162332845Humanname
150444517CV1288034single nucleotide variantNM_014697.3(NOS1AP):c.105+233C>Anot provided [RCV001725756]benign1162070515162070515Humanname
150542346CV1307740single nucleotide variantNM_014697.3(NOS1AP):c.940-313T>Cnot provided [RCV001769515]likely benign1162365091162365091Humanname
150539317CV1308651single nucleotide variantNM_014697.3(NOS1AP):c.345-228C>Tnot provided [RCV001766155]likely benign1162332789162332789Humanname
8574986CV109326single nucleotide variantNM_014697.2(NOS1AP):c.106-2067A>TLung cancer [RCV000089851]uncertain significance1162152338162152338Humanname
8574987CV109327single nucleotide variantNM_014697.2(NOS1AP):c.454-1521G>ALung cancer [RCV000089852]uncertain significance1162342314162342314Humanname
150468270CV1218891single nucleotide variantNM_014697.3(NOS1AP):c.940-2673T>Anot provided [RCV001614643]benign1162362731162362731Humanname
150460902CV1231408single nucleotide variantNM_014697.3(NOS1AP):c.1106-303A>Gnot provided [RCV001640973]benign1162366749162366749Humanname
150439733CV1287082single nucleotide variantNM_014697.3(NOS1AP):c.1105+141T>Cnot provided [RCV001724997]benign1162365710162365710Humanname
150485487CV1223007insertionNM_014697.3(NOS1AP):c.940-318_940-317insCACGnot provided [RCV001617719]benign1162365085162365086Humanname
150442695CV1233742insertionNM_014697.3(NOS1AP):c.940-313_940-312insGTGCnot provided [RCV001645430]benign1162365091162365092Humanname
401923022CV2796679single nucleotide variantNM_014697.3(NOS1AP):c.1349G>C (p.Gly450Ala)NOS1AP-related disorder [RCV003404298]uncertain significance1162367295162367295Humanname , trait , alternate_id
15124571CV731827single nucleotide variantNM_014697.3(NOS1AP):c.1003G>A (p.Val335Met)NOS1AP-related disorder [RCV003975680]|not provided [RCV000896616]likely benign1162365467162365467Human1name , trait , alternate_id
150499943CV1283124single nucleotide variantNM_014697.3(NOS1AP):c.564C>T (p.Ser188=)not provided [RCV001718291]benign1162343945162343945Humanname
150546766CV1291650single nucleotide variantNM_014697.3(NOS1AP):c.400C>A (p.Arg134=)not specified [RCV001733400]benign1162333072162333072Humanname
329394325CV2469813single nucleotide variantNM_014697.3(NOS1AP):c.46C>G (p.Leu16Val)not specified [RCV004285306]uncertain significance1162070223162070223Humanname
401933124CV2806127single nucleotide variantNM_014697.3(NOS1AP):c.654C>T (p.Ile218=)not provided [RCV003409213]likely benign1162355245162355245Humanname
401933125CV2806128single nucleotide variantNM_014697.3(NOS1AP):c.771C>T (p.His257=)not provided [RCV003409214]likely benign1162356968162356968Humanname
8603002CV45323single nucleotide variantNM_014697.3(NOS1AP):c.864C>T (p.Ser288=)Cardiac arrhythmia [RCV001841538]|Nephrotic syndrome, type 22 [RCV002504833]|not provided [RCV000958052]benign|likely benign1162357061162357061Human3name
13520570CV486842single nucleotide variantNM_014697.3(NOS1AP):c.384C>T (p.Ile128=)not provided [RCV000587982]benign|likely benign1162333056162333056Humanname
13519539CV486850single nucleotide variantNM_014697.3(NOS1AP):c.40C>A (p.His14Asn)not provided [RCV000586086]uncertain significance1162070217162070217Humanname
13521709CV486855single nucleotide variantNM_014697.3(NOS1AP):c.528G>A (p.Thr176=)not specified [RCV000589958]likely benign|uncertain significance1162343909162343909Humanname
14689949CV621063single nucleotide variantNM_014697.3(NOS1AP):c.300G>A (p.Thr100=)not specified [RCV000780550]benign1162300662162300662Humanname
15163994CV696225single nucleotide variantNM_014697.3(NOS1AP):c.615C>T (p.Ala205=)not provided [RCV000948228]benign1162355206162355206Humanname
34896010CV916801single nucleotide variantNM_014697.3(NOS1AP):c.92G>A (p.Cys31Tyr)not specified [RCV001193263]uncertain significance1162070269162070269Humanname
34896011CV916802single nucleotide variantNM_014697.3(NOS1AP):c.576C>T (p.Ser192=)not specified [RCV001193264]benign1162343957162343957Humanname
150482865CV1223495single nucleotide variantNM_014697.3(NOS1AP):c.1002C>T (p.Arg334=)Nephrotic syndrome, type 22 [RCV002495968]|not provided [RCV001617208]benign1162365466162365466Human1name
150534988CV1311728single nucleotide variantNM_014697.3(NOS1AP):c.1317C>A (p.Thr439=)not specified [RCV001779539]benign1162367263162367263Humanname
155730209CV1780754single nucleotide variantNM_014697.3(NOS1AP):c.1350C>T (p.Gly450=)not specified [RCV002308538]benign1162367296162367296Humanname
401742691CV2715294single nucleotide variantNM_014697.3(NOS1AP):c.275T>A (p.Leu92His)not specified [RCV004324632]uncertain significance1162300637162300637Humanname
401886613CV2776657single nucleotide variantNM_014697.3(NOS1AP):c.151A>G (p.Ile51Val)not specified [RCV004357827]uncertain significance1162154450162154450Humanname
405678414CV3355710single nucleotide variantNM_014697.3(NOS1AP):c.195G>C (p.Lys65Asn)not specified [RCV004488160]uncertain significance1162287361162287361Humanname
405678418CV3355711single nucleotide variantNM_014697.3(NOS1AP):c.220A>T (p.Ile74Phe)not specified [RCV004488161]uncertain significance1162287386162287386Humanname
13519445CV486845single nucleotide variantNM_014697.3(NOS1AP):c.1434G>C (p.Ser478=)not provided [RCV000585936]benign1162367380162367380Humanname
13542070CV511045single nucleotide variantNM_014697.3(NOS1AP):c.268A>G (p.Lys90Glu)not specified [RCV000623880]uncertain significance1162287434162287434Humanname
126728761CV985583single nucleotide variantNM_014697.3(NOS1AP):c.1275G>A (p.Leu425=)not specified [RCV001293514]likely benign1162367221162367221Humanname
10398646CV204067single nucleotide variantNM_014697.3(NOS1AP):c.824C>T (p.Ser275Phe)Long QT syndrome [RCV000190226]uncertain significance1162357021162357021Human2name
156146034CV2196848single nucleotide variantNM_014697.3(NOS1AP):c.857C>T (p.Pro286Leu)not specified [RCV004069857]uncertain significance1162357054162357054Humanname
155985729CV2282388single nucleotide variantNM_014697.3(NOS1AP):c.696A>C (p.Glu232Asp)not specified [RCV004133206]uncertain significance1162355287162355287Humanname
156259620CV2322245single nucleotide variantNM_014697.3(NOS1AP):c.346A>G (p.Ile116Val)not specified [RCV004176016]uncertain significance1162333018162333018Humanname
156082422CV2384852single nucleotide variantNM_014697.3(NOS1AP):c.771C>A (p.His257Gln)not specified [RCV004225733]uncertain significance1162356968162356968Humanname
401881123CV2788028single nucleotide variantNM_014697.3(NOS1AP):c.617A>G (p.Glu206Gly)not specified [RCV004358680]uncertain significance1162355208162355208Humanname
405678433CV3351863single nucleotide variantNM_014697.3(NOS1AP):c.587G>T (p.Gly196Val)not specified [RCV004488164]uncertain significance1162343968162343968Humanname
405678438CV3351864single nucleotide variantNM_014697.3(NOS1AP):c.620G>A (p.Arg207Lys)not specified [RCV004488165]uncertain significance1162355211162355211Humanname
405678442CV3351865single nucleotide variantNM_014697.3(NOS1AP):c.659C>T (p.Ala220Val)not specified [RCV004488166]uncertain significance1162355250162355250Humanname
405678451CV3351867single nucleotide variantNM_014697.3(NOS1AP):c.833C>T (p.Pro278Leu)not specified [RCV004488168]uncertain significance1162357030162357030Humanname
405678422CV3355712single nucleotide variantNM_014697.3(NOS1AP):c.414C>G (p.Ser138Arg)not specified [RCV004488162]uncertain significance1162333086162333086Humanname
405678427CV3355713single nucleotide variantNM_014697.3(NOS1AP):c.535A>G (p.Asn179Asp)not specified [RCV004488163]uncertain significance1162343916162343916Humanname
597673576CV3563238single nucleotide variantNM_014697.3(NOS1AP):c.591C>A (p.Asp197Glu)not specified [RCV004830076]uncertain significance1162343972162343972Humanname
597673582CV3563239single nucleotide variantNM_014697.3(NOS1AP):c.616G>A (p.Glu206Lys)not specified [RCV004830077]uncertain significance1162355207162355207Humanname
597673589CV3563240single nucleotide variantNM_014697.3(NOS1AP):c.767C>T (p.Ser256Leu)not specified [RCV004830078]uncertain significance1162356964162356964Humanname
598207516CV4000744single nucleotide variantNM_014697.3(NOS1AP):c.638C>G (p.Ala213Gly)not specified [RCV005377094]uncertain significance1162355229162355229Humanname
598207509CV4000745single nucleotide variantNM_014697.3(NOS1AP):c.786G>A (p.Met262Ile)not specified [RCV005377095]uncertain significance1162356983162356983Humanname
598207503CV4000746single nucleotide variantNM_014697.3(NOS1AP):c.866C>T (p.Thr289Ile)not specified [RCV005377096]uncertain significance1162357063162357063Humanname
598207496CV4000747single nucleotide variantNM_014697.3(NOS1AP):c.313A>G (p.Lys105Glu)not specified [RCV005377097]uncertain significance1162300675162300675Humanname
15184924CV718339single nucleotide variantNM_014697.3(NOS1AP):c.311G>A (p.Ser104Asn)not provided [RCV000886557]benign1162300673162300673Humanname
41407720CV983542single nucleotide variantNM_014697.3(NOS1AP):c.428G>A (p.Cys143Tyr)Nephrotic syndrome, type 22 [RCV001290108]pathogenic1162333100162333100Human1name
150534985CV1311727single nucleotide variantNM_014697.3(NOS1AP):c.1309G>A (p.Glu437Lys)not specified [RCV001779538]likely benign1162367255162367255Humanname
151348294CV1323972single nucleotide variantNM_014697.3(NOS1AP):c.1259G>C (p.Gly420Ala)Nephrotic syndrome, type 22 [RCV001807882]uncertain significance1162367205162367205Human1name
10398645CV204068single nucleotide variantNM_014697.3(NOS1AP):c.1276G>A (p.Val426Met)Long QT syndrome [RCV000190225]uncertain significance1162367222162367222Human2name
156339725CV2229328single nucleotide variantNM_014697.3(NOS1AP):c.1034T>G (p.Met345Arg)not specified [RCV004101120]uncertain significance1162365498162365498Humanname
156164893CV2389743single nucleotide variantNM_014697.3(NOS1AP):c.1001G>A (p.Arg334His)not specified [RCV004243789]uncertain significance1162365465162365465Humanname
401770347CV2715145single nucleotide variantNM_014697.3(NOS1AP):c.1285G>C (p.Glu429Gln)not specified [RCV004322715]uncertain significance1162367231162367231Humanname
405678407CV3355709single nucleotide variantNM_014697.3(NOS1AP):c.1175C>T (p.Thr392Met)not specified [RCV004488159]uncertain significance1162367121162367121Humanname
407509973CV3469184single nucleotide variantNM_014697.3(NOS1AP):c.1219G>A (p.Gly407Ser)not specified [RCV004647560]uncertain significance1162367165162367165Humanname
597673599CV3563241single nucleotide variantNM_014697.3(NOS1AP):c.1184A>G (p.Lys395Arg)not specified [RCV004830079]uncertain significance1162367130162367130Humanname
598240484CV4000742single nucleotide variantNM_014697.3(NOS1AP):c.1140C>A (p.Phe380Leu)not specified [RCV005383089]uncertain significance1162367086162367086Humanname
598207522CV4000743single nucleotide variantNM_014697.3(NOS1AP):c.1502A>G (p.Asp501Gly)not specified [RCV005377093]uncertain significance1162367448162367448Humanname
8603001CV45322single nucleotide variantNM_014697.3(NOS1AP):c.1217C>T (p.Ala406Val)not provided [RCV003221787]|not specified [RCV000030340]benign|likely benign|uncertain significance1162367163162367163Humanname
13521567CV486869single nucleotide variantNM_014697.3(NOS1AP):c.1205C>T (p.Pro402Leu)not specified [RCV001804173]uncertain significance1162367151162367151Humanname