| 405266196 | CV3201916 | single nucleotide variant | NM_000620.5(NOS1):c.*8C>T | NOS1-related disorder [RCV003911405] | benign | 12 | 117215301 | 117215301 | Human | | name , trait , alternate_id |
| 15176396 | CV730831 | single nucleotide variant | NM_000620.5(NOS1):c.2649-9C>T | not provided [RCV000884574] | likely benign | 12 | 117247531 | 117247531 | Human | | name |
| 15196913 | CV730832 | single nucleotide variant | NM_000620.5(NOS1):c.1941+8C>T | not provided [RCV000889903] | likely benign | 12 | 117268035 | 117268035 | Human | | name |
| 15103053 | CV760094 | single nucleotide variant | NM_000620.5(NOS1):c.2367+7G>C | not provided [RCV000915088] | likely benign | 12 | 117260458 | 117260458 | Human | | name |
| 15102776 | CV777971 | single nucleotide variant | NM_000620.5(NOS1):c.1524+7G>A | not provided [RCV000959350] | likely benign | 12 | 117280718 | 117280718 | Human | | name |
| 15199728 | CV778052 | single nucleotide variant | NM_000620.5(NOS1):c.3042-6C>T | NOS1-related disorder [RCV003915931]|not provided [RCV000957121] | benign | 12 | 117234764 | 117234764 | Human | | name , trait , alternate_id |
| 8634520 | CV89740 | single nucleotide variant | NM_000620.4(NOS1):c.2137-1G>A | Malignant melanoma [RCV000069837] | not provided | 12 | 117263975 | 117263975 | Human | | name |
| 8653583 | CV130158 | single nucleotide variant | NM_000620.4(NOS1):c.-420-4810C>T | Lung cancer [RCV000110645] | uncertain significance | 12 | 117336299 | 117336299 | Human | | name |
| 156316127 | CV2193011 | single nucleotide variant | NM_000620.5(NOS1):c.2532-2185A>G | not specified [RCV004069562] | uncertain significance | 12 | 117255939 | 117255939 | Human | | name |
| 401726142 | CV2699117 | single nucleotide variant | NM_000620.5(NOS1):c.2532-2278C>T | not specified [RCV004303625] | uncertain significance | 12 | 117256032 | 117256032 | Human | | name |
| 405276406 | CV3193405 | single nucleotide variant | NM_000620.5(NOS1):c.2532-2258C>T | NOS1-related disorder [RCV003974572] | benign | 12 | 117256012 | 117256012 | Human | | name , trait , alternate_id |
| 405273242 | CV3207199 | single nucleotide variant | NM_000620.5(NOS1):c.2532-2233A>G | NOS1-related disorder [RCV003914647] | benign | 12 | 117255987 | 117255987 | Human | | name , trait , alternate_id |
| 405290242 | CV3221281 | single nucleotide variant | NM_000620.5(NOS1):c.2532-2256C>A | NOS1-related disorder [RCV003962196] | benign | 12 | 117256010 | 117256010 | Human | | name , trait , alternate_id |
| 405678350 | CV3355696 | single nucleotide variant | NM_000620.5(NOS1):c.2532-2218T>A | not specified [RCV004488146] | uncertain significance | 12 | 117255972 | 117255972 | Human | | name |
| 407498198 | CV3469175 | single nucleotide variant | NM_000620.5(NOS1):c.2532-2255C>T | not specified [RCV004643940] | uncertain significance | 12 | 117256009 | 117256009 | Human | | name |
| 15193947 | CV753135 | single nucleotide variant | NM_000620.5(NOS1):c.6G>A (p.Glu2=) | not provided [RCV000910985] | likely benign | 12 | 117331064 | 117331064 | Human | | name |
| 156392160 | CV2378330 | single nucleotide variant | NM_000620.5(NOS1):c.19G>A (p.Gly7Ser) | not specified [RCV004226357] | likely benign | 12 | 117331051 | 117331051 | Human | | name |
| 597673559 | CV3563236 | single nucleotide variant | NM_000620.5(NOS1):c.15G>A (p.Met5Ile) | not specified [RCV004830074] | uncertain significance | 12 | 117331055 | 117331055 | Human | | name |
| 15139131 | CV713367 | single nucleotide variant | NM_000620.5(NOS1):c.273C>T (p.Thr91=) | NOS1-related disorder [RCV003960773]|not provided [RCV000965913] | benign | 12 | 117330797 | 117330797 | Human | | name , trait , alternate_id |
| 15117405 | CV753133 | single nucleotide variant | NM_000620.5(NOS1):c.267T>C (p.Ser89=) | not provided [RCV000917789] | likely benign | 12 | 117330803 | 117330803 | Human | | name |
| 15119361 | CV753134 | single nucleotide variant | NM_000620.5(NOS1):c.120C>T (p.Pro40=) | not provided [RCV000918132] | likely benign | 12 | 117330950 | 117330950 | Human | | name |
| 15106187 | CV784284 | single nucleotide variant | NM_000620.5(NOS1):c.111T>C (p.Ser37=) | not provided [RCV000976584] | likely benign | 12 | 117330959 | 117330959 | Human | | name |
| 155907246 | CV2389816 | single nucleotide variant | NM_000620.5(NOS1):c.56G>A (p.Arg19His) | not specified [RCV004236042] | uncertain significance | 12 | 117331014 | 117331014 | Human | | name |
| 405275049 | CV3204615 | single nucleotide variant | NM_000620.5(NOS1):c.987G>A (p.Thr329=) | NOS1-related disorder [RCV003952025] | likely benign | 12 | 117288214 | 117288214 | Human | | name , trait , alternate_id |
| 405270894 | CV3212193 | single nucleotide variant | NM_000620.5(NOS1):c.432A>G (p.Glu144=) | NOS1-related disorder [RCV003949550] | likely benign | 12 | 117330638 | 117330638 | Human | | name , trait , alternate_id |
| 15139125 | CV713365 | single nucleotide variant | NM_000620.5(NOS1):c.420G>A (p.Pro140=) | NOS1-related disorder [RCV003926268]|not provided [RCV000965912] | benign | 12 | 117330650 | 117330650 | Human | | name , trait , alternate_id |
| 15121858 | CV713366 | single nucleotide variant | NM_000620.5(NOS1):c.336A>G (p.Thr112=) | not provided [RCV000962970] | likely benign | 12 | 117330734 | 117330734 | Human | | name |
| 15150152 | CV724914 | single nucleotide variant | NM_000620.5(NOS1):c.765C>T (p.Gly255=) | not provided [RCV000879317] | benign | 12 | 117311553 | 117311553 | Human | | name |
| 15191440 | CV768899 | single nucleotide variant | NM_000620.5(NOS1):c.819C>T (p.Val273=) | not provided [RCV000932802] | likely benign | 12 | 117311499 | 117311499 | Human | | name |
| 15142288 | CV768900 | single nucleotide variant | NM_000620.5(NOS1):c.795A>G (p.Leu265=) | not provided [RCV000944052] | likely benign | 12 | 117311523 | 117311523 | Human | | name |
| 15144462 | CV784283 | single nucleotide variant | NM_000620.5(NOS1):c.459G>A (p.Ser153=) | not provided [RCV000983495] | likely benign | 12 | 117330611 | 117330611 | Human | | name |
| 156156278 | CV2359823 | single nucleotide variant | NM_000620.5(NOS1):c.110G>A (p.Ser37Asn) | not specified [RCV004212678] | uncertain significance | 12 | 117330960 | 117330960 | Human | | name |
| 329399224 | CV2436224 | single nucleotide variant | NM_000620.5(NOS1):c.294G>C (p.Arg98Ser) | not specified [RCV004249851] | uncertain significance | 12 | 117330776 | 117330776 | Human | | name |
| 401932470 | CV2816916 | single nucleotide variant | NM_000620.5(NOS1):c.1425C>T (p.His475=) | NOS1-related disorder [RCV003906739]|not provided [RCV003392066] | benign | 12 | 117280824 | 117280824 | Human | | name , trait , alternate_id |
| 405290963 | CV3197216 | single nucleotide variant | NM_000620.5(NOS1):c.2706C>T (p.His902=) | NOS1-related disorder [RCV003984779] | benign | 12 | 117247465 | 117247465 | Human | | name , trait , alternate_id |
| 405280514 | CV3200795 | single nucleotide variant | NM_000620.5(NOS1):c.2202T>C (p.Ile734=) | NOS1-related disorder [RCV003977420] | benign | 12 | 117263909 | 117263909 | Human | | name , trait , alternate_id |
| 405285450 | CV3212524 | single nucleotide variant | NM_000620.5(NOS1):c.1596C>T (p.Asn532=) | NOS1-related disorder [RCV003959106] | likely benign | 12 | 117278027 | 117278027 | Human | | name , trait , alternate_id |
| 405292761 | CV3217450 | single nucleotide variant | NM_000620.5(NOS1):c.2154G>A (p.Thr718=) | NOS1-related disorder [RCV003964741] | likely benign | 12 | 117263957 | 117263957 | Human | | name , trait , alternate_id |
| 405278584 | CV3220334 | single nucleotide variant | NM_000620.5(NOS1):c.2601C>T (p.Pro867=) | NOS1-related disorder [RCV003976562] | benign | 12 | 117253685 | 117253685 | Human | | name , trait , alternate_id |
| 405266005 | CV3221035 | single nucleotide variant | NM_000620.5(NOS1):c.2661T>C (p.Phe887=) | NOS1-related disorder [RCV003969167] | likely benign | 12 | 117247510 | 117247510 | Human | | name , trait , alternate_id |
| 405678332 | CV3355691 | single nucleotide variant | NM_000620.5(NOS1):c.143G>A (p.Arg48His) | not specified [RCV004488141] | uncertain significance | 12 | 117330927 | 117330927 | Human | | name |
| 405678339 | CV3355693 | single nucleotide variant | NM_000620.5(NOS1):c.154G>A (p.Ala52Thr) | not specified [RCV004488143] | uncertain significance | 12 | 117330916 | 117330916 | Human | | name |
| 408367282 | CV3509874 | single nucleotide variant | NM_000620.5(NOS1):c.1689G>A (p.Gly563=) | NOS1-related disorder [RCV004758357] | likely benign | 12 | 117272535 | 117272535 | Human | | name , trait , alternate_id |
| 15179570 | CV713360 | single nucleotide variant | NM_000620.5(NOS1):c.1803C>T (p.Arg601=) | not provided [RCV000973941] | likely benign | 12 | 117272421 | 117272421 | Human | | name |
| 15147187 | CV713362 | single nucleotide variant | NM_000620.5(NOS1):c.1461C>T (p.Tyr487=) | NOS1-related disorder [RCV003936037]|not provided [RCV000967291] | benign | 12 | 117280788 | 117280788 | Human | | name , trait , alternate_id |
| 15161190 | CV724912 | single nucleotide variant | NM_000620.5(NOS1):c.2721C>T (p.Leu907=) | NOS1-related disorder [RCV003955835]|not provided [RCV000881527] | benign | 12 | 117247450 | 117247450 | Human | | name , trait , alternate_id |
| 15203281 | CV753128 | single nucleotide variant | NM_000620.5(NOS1):c.2502G>A (p.Arg834=) | not provided [RCV000913826] | likely benign | 12 | 117258426 | 117258426 | Human | | name |
| 15197276 | CV753129 | single nucleotide variant | NM_000620.5(NOS1):c.2313G>A (p.Ser771=) | not provided [RCV000911931] | likely benign | 12 | 117260519 | 117260519 | Human | | name |
| 15119354 | CV753130 | single nucleotide variant | NM_000620.5(NOS1):c.1905G>C (p.Leu635=) | not provided [RCV000918131] | likely benign | 12 | 117268079 | 117268079 | Human | | name |
| 15107519 | CV753131 | single nucleotide variant | NM_000620.5(NOS1):c.1401C>T (p.Phe467=) | not provided [RCV000915973] | likely benign | 12 | 117280848 | 117280848 | Human | | name |
| 15163602 | CV753132 | single nucleotide variant | NM_000620.5(NOS1):c.1107A>G (p.Gln369=) | NOS1-related disorder [RCV003960448]|not provided [RCV000926167] | likely benign | 12 | 117288094 | 117288094 | Human | | name , trait , alternate_id |
| 15133472 | CV768897 | single nucleotide variant | NM_000620.5(NOS1):c.2856T>C (p.Asp952=) | not provided [RCV000942573] | likely benign | 12 | 117243403 | 117243403 | Human | | name |
| 15194179 | CV768898 | single nucleotide variant | NM_000620.5(NOS1):c.1572C>A (p.Val524=) | NOS1-related disorder [RCV003970584]|not provided [RCV000933570] | likely benign | 12 | 117278051 | 117278051 | Human | | name , trait , alternate_id |
| 15127528 | CV784282 | single nucleotide variant | NM_000620.5(NOS1):c.1056C>T (p.Asp352=) | not provided [RCV000980560] | likely benign | 12 | 117288145 | 117288145 | Human | | name |
| 8634521 | CV89741 | single nucleotide variant | NM_000620.4(NOS1):c.1269G>A (p.Arg423=) | Malignant melanoma [RCV000069838] | not provided | 12 | 117286125 | 117286125 | Human | | name |
| 155923575 | CV2280329 | single nucleotide variant | NM_000620.5(NOS1):c.341A>T (p.Asp114Val) | not specified [RCV004140522] | uncertain significance | 12 | 117330729 | 117330729 | Human | | name |
| 155990675 | CV2280981 | single nucleotide variant | NM_000620.5(NOS1):c.911G>A (p.Arg304His) | not specified [RCV004145484] | uncertain significance | 12 | 117290368 | 117290368 | Human | | name |
| 155993861 | CV2286346 | single nucleotide variant | NM_000620.5(NOS1):c.500A>G (p.Gln167Arg) | not specified [RCV004146293] | uncertain significance | 12 | 117330570 | 117330570 | Human | | name |
| 155907850 | CV2302303 | single nucleotide variant | NM_000620.5(NOS1):c.829A>G (p.Asn277Asp) | not specified [RCV004161066] | uncertain significance | 12 | 117311489 | 117311489 | Human | | name |
| 156196111 | CV2319051 | single nucleotide variant | NM_000620.5(NOS1):c.599G>A (p.Gly200Glu) | not specified [RCV004178133] | uncertain significance | 12 | 117330471 | 117330471 | Human | | name |
| 156171748 | CV2337540 | single nucleotide variant | NM_000620.5(NOS1):c.820G>A (p.Val274Ile) | not specified [RCV004187969] | uncertain significance | 12 | 117311498 | 117311498 | Human | | name |
| 156329262 | CV2342380 | single nucleotide variant | NM_000620.5(NOS1):c.659G>A (p.Ser220Asn) | not specified [RCV004191946] | uncertain significance | 12 | 117330411 | 117330411 | Human | | name |
| 155924559 | CV2358172 | single nucleotide variant | NM_000620.5(NOS1):c.766G>A (p.Val256Met) | not specified [RCV004211972] | uncertain significance | 12 | 117311552 | 117311552 | Human | | name |
| 329388448 | CV2437419 | single nucleotide variant | NM_000620.5(NOS1):c.788A>G (p.Asn263Ser) | not specified [RCV004256287] | uncertain significance | 12 | 117311530 | 117311530 | Human | | name |
| 329353364 | CV2468972 | single nucleotide variant | NM_000620.5(NOS1):c.485C>T (p.Ala162Val) | not specified [RCV004274238] | uncertain significance | 12 | 117330585 | 117330585 | Human | | name |
| 401770609 | CV2685801 | single nucleotide variant | NM_000620.5(NOS1):c.334A>G (p.Thr112Ala) | not specified [RCV004294790] | uncertain significance | 12 | 117330736 | 117330736 | Human | | name |
| 401721860 | CV2710201 | single nucleotide variant | NM_000620.5(NOS1):c.804G>T (p.Lys268Asn) | not specified [RCV004317104] | uncertain significance | 12 | 117311514 | 117311514 | Human | | name |
| 401725014 | CV2735809 | single nucleotide variant | NM_000620.5(NOS1):c.784T>G (p.Phe262Val) | not provided [RCV003312252] | likely benign | 12 | 117311534 | 117311534 | Human | | name |
| 401890055 | CV2763611 | single nucleotide variant | NM_000620.5(NOS1):c.397G>A (p.Val133Met) | not specified [RCV004343120] | uncertain significance | 12 | 117330673 | 117330673 | Human | | name |
| 401870736 | CV2769317 | single nucleotide variant | NM_000620.5(NOS1):c.899C>T (p.Ser300Phe) | not specified [RCV004357314] | uncertain significance | 12 | 117290380 | 117290380 | Human | | name |
| 401882446 | CV2781517 | single nucleotide variant | NM_000620.5(NOS1):c.599G>C (p.Gly200Ala) | not specified [RCV004354748] | uncertain significance | 12 | 117330471 | 117330471 | Human | | name |
| 401932468 | CV2816913 | single nucleotide variant | NM_000620.5(NOS1):c.4287T>C (p.Asp1429=) | not provided [RCV003392064] | likely benign | 12 | 117218048 | 117218048 | Human | | name |
| 401932469 | CV2816914 | single nucleotide variant | NM_000620.5(NOS1):c.3048A>C (p.Ser1016=) | not provided [RCV003392065] | likely benign | 12 | 117234752 | 117234752 | Human | | name |
| 405281255 | CV3190743 | single nucleotide variant | NM_000620.5(NOS1):c.559C>T (p.Pro187Ser) | NOS1-related disorder [RCV003907178] | likely benign | 12 | 117330511 | 117330511 | Human | | name , trait , alternate_id |
| 405284789 | CV3190844 | single nucleotide variant | NM_000620.5(NOS1):c.3159C>T (p.Ile1053=) | NOS1-related disorder [RCV003909410] | likely benign | 12 | 117234641 | 117234641 | Human | | name , trait , alternate_id |
| 405288422 | CV3197433 | single nucleotide variant | NM_000620.5(NOS1):c.3258C>T (p.Asp1086=) | NOS1-related disorder [RCV003982529] | benign | 12 | 117232109 | 117232109 | Human | 5 | name , trait , alternate_id |
| 405266367 | CV3211828 | single nucleotide variant | NM_000620.5(NOS1):c.3225C>T (p.Asn1075=) | NOS1-related disorder [RCV003947112] | likely benign | 12 | 117234575 | 117234575 | Human | | name , trait , alternate_id |
| 405287765 | CV3217904 | single nucleotide variant | NM_000620.5(NOS1):c.4059C>A (p.Val1353=) | NOS1-related disorder [RCV003982027] | benign | 12 | 117220186 | 117220186 | Human | | name , trait , alternate_id |
| 405678388 | CV3355705 | single nucleotide variant | NM_000620.5(NOS1):c.520C>G (p.His174Asp) | not specified [RCV004488155] | uncertain significance | 12 | 117330550 | 117330550 | Human | | name |
| 405678393 | CV3355706 | single nucleotide variant | NM_000620.5(NOS1):c.647T>C (p.Leu216Pro) | not specified [RCV004488156] | uncertain significance | 12 | 117330423 | 117330423 | Human | | name |
| 405678397 | CV3355707 | single nucleotide variant | NM_000620.5(NOS1):c.769G>C (p.Glu257Gln) | not specified [RCV004488157] | uncertain significance | 12 | 117311549 | 117311549 | Human | | name |
| 405678402 | CV3355708 | single nucleotide variant | NM_000620.5(NOS1):c.904T>C (p.Cys302Arg) | not specified [RCV004488158] | uncertain significance | 12 | 117290375 | 117290375 | Human | | name |
| 407509947 | CV3469173 | single nucleotide variant | NM_000620.5(NOS1):c.335C>T (p.Thr112Ile) | not specified [RCV004647552] | uncertain significance | 12 | 117330735 | 117330735 | Human | | name |
| 407509970 | CV3469182 | single nucleotide variant | NM_000620.5(NOS1):c.490G>A (p.Asp164Asn) | not specified [RCV004647559] | uncertain significance | 12 | 117330580 | 117330580 | Human | | name |
| 407498206 | CV3469183 | single nucleotide variant | NM_000620.5(NOS1):c.782T>C (p.Val261Ala) | not specified [RCV004643942] | uncertain significance | 12 | 117311536 | 117311536 | Human | | name |
| 597673533 | CV3563233 | single nucleotide variant | NM_000620.5(NOS1):c.740A>G (p.Lys247Arg) | not specified [RCV004830071] | uncertain significance | 12 | 117311578 | 117311578 | Human | | name |
| 598240502 | CV4000735 | single nucleotide variant | NM_000620.5(NOS1):c.803A>T (p.Lys268Met) | not specified [RCV005383086] | uncertain significance | 12 | 117311515 | 117311515 | Human | | name |
| 598240496 | CV4000738 | single nucleotide variant | NM_000620.5(NOS1):c.362G>C (p.Arg121Pro) | not specified [RCV005383087] | uncertain significance | 12 | 117330708 | 117330708 | Human | | name |
| 598207529 | CV4000741 | single nucleotide variant | NM_000620.5(NOS1):c.580G>A (p.Val194Ile) | not specified [RCV005377092] | uncertain significance | 12 | 117330490 | 117330490 | Human | | name |
| 15190423 | CV702154 | single nucleotide variant | NM_000620.5(NOS1):c.3522G>A (p.Leu1174=) | NOS1-related disorder [RCV003915842]|not provided [RCV000954470] | benign | 12 | 117227525 | 117227525 | Human | | name , trait , alternate_id |
| 15181768 | CV713356 | single nucleotide variant | NM_000620.5(NOS1):c.4047C>A (p.Gly1349=) | not provided [RCV000974473] | likely benign | 12 | 117220198 | 117220198 | Human | | name |
| 15165090 | CV713357 | single nucleotide variant | NM_000620.5(NOS1):c.3066C>G (p.Leu1022=) | NOS1-related disorder [RCV003918446]|not provided [RCV000970876] | benign | 12 | 117234734 | 117234734 | Human | | name , trait , alternate_id |
| 15176736 | CV713363 | single nucleotide variant | NM_000620.5(NOS1):c.721G>A (p.Asp241Asn) | NOS1-related disorder [RCV003906056]|not provided [RCV000973255] | benign|likely benign | 12 | 117330349 | 117330349 | Human | | name , trait , alternate_id |
| 15157263 | CV713364 | single nucleotide variant | NM_000620.5(NOS1):c.458C>T (p.Ser153Leu) | NOS1-related disorder [RCV003905974]|not provided [RCV000969276] | benign | 12 | 117330612 | 117330612 | Human | | name , trait , alternate_id |
| 15169877 | CV724910 | single nucleotide variant | NM_000620.5(NOS1):c.3453C>T (p.Ile1151=) | NOS1-related disorder [RCV003910422]|not provided [RCV000883362] | benign | 12 | 117227594 | 117227594 | Human | | name , trait , alternate_id |
| 15198173 | CV724911 | single nucleotide variant | NM_000620.5(NOS1):c.3330G>A (p.Thr1110=) | NOS1-related disorder [RCV003910570]|not provided [RCV000890275] | likely benign | 12 | 117232037 | 117232037 | Human | | name , trait , alternate_id |
| 15177975 | CV738467 | single nucleotide variant | NM_000620.5(NOS1):c.3894G>A (p.Arg1298=) | not provided [RCV000906769] | likely benign | 12 | 117222796 | 117222796 | Human | | name |
| 15176311 | CV738468 | single nucleotide variant | NM_000620.5(NOS1):c.3858C>T (p.Phe1286=) | not provided [RCV000906403] | likely benign | 12 | 117222832 | 117222832 | Human | | name |
| 15176378 | CV738469 | single nucleotide variant | NM_000620.5(NOS1):c.3306C>T (p.Tyr1102=) | not provided [RCV000906417] | likely benign | 12 | 117232061 | 117232061 | Human | | name |
| 15129186 | CV738470 | single nucleotide variant | NM_000620.5(NOS1):c.3177G>A (p.Ala1059=) | not provided [RCV000897398] | benign | 12 | 117234623 | 117234623 | Human | | name |
| 15103178 | CV753125 | single nucleotide variant | NM_000620.5(NOS1):c.3678C>T (p.Asp1226=) | not provided [RCV000915114] | likely benign | 12 | 117226709 | 117226709 | Human | | name |
| 15201815 | CV753126 | single nucleotide variant | NM_000620.5(NOS1):c.3477A>G (p.Pro1159=) | not provided [RCV000913253] | likely benign | 12 | 117227570 | 117227570 | Human | | name |
| 15138350 | CV753127 | single nucleotide variant | NM_000620.5(NOS1):c.3420C>T (p.Tyr1140=) | not provided [RCV000921317] | likely benign | 12 | 117227627 | 117227627 | Human | | name |
| 15129634 | CV784281 | single nucleotide variant | NM_000620.5(NOS1):c.4011G>A (p.Ala1337=) | not provided [RCV000980908] | likely benign | 12 | 117220234 | 117220234 | Human | | name |
| 8627195 | CV82339 | single nucleotide variant | NM_000620.4(NOS1):c.866G>A (p.Gly289Glu) | Malignant melanoma [RCV000062418] | not provided | 12 | 117290413 | 117290413 | Human | | name |
| 8634519 | CV89739 | single nucleotide variant | NM_000620.4(NOS1):c.4185C>T (p.Tyr1395=) | Malignant melanoma [RCV000069836] | not provided | 12 | 117218150 | 117218150 | Human | | name |
| 8634522 | CV89742 | single nucleotide variant | NM_000620.4(NOS1):c.556G>A (p.Asp186Asn) | Malignant melanoma [RCV000069839] | not provided | 12 | 117330514 | 117330514 | Human | | name |
| 156035724 | CV2208229 | single nucleotide variant | NM_000620.5(NOS1):c.2303C>T (p.Thr768Ile) | not specified [RCV004088685] | uncertain significance | 12 | 117260529 | 117260529 | Human | | name |
| 156142165 | CV2208502 | single nucleotide variant | NM_000620.5(NOS1):c.1313C>A (p.Thr438Asn) | not specified [RCV004091034] | uncertain significance | 12 | 117285310 | 117285310 | Human | | name |
| 156187405 | CV2226682 | single nucleotide variant | NM_000620.5(NOS1):c.2176G>A (p.Gly726Arg) | not specified [RCV004101913] | uncertain significance | 12 | 117263935 | 117263935 | Human | | name |
| 156307051 | CV2252805 | single nucleotide variant | NM_000620.5(NOS1):c.1858A>G (p.Asn620Asp) | not specified [RCV004118644] | uncertain significance | 12 | 117268126 | 117268126 | Human | | name |
| 156183727 | CV2255375 | single nucleotide variant | NM_000620.5(NOS1):c.1172A>G (p.Lys391Arg) | not specified [RCV004117744] | uncertain significance | 12 | 117286222 | 117286222 | Human | | name |
| 156312712 | CV2256914 | single nucleotide variant | NM_000620.5(NOS1):c.1043G>A (p.Arg348Lys) | not specified [RCV004121115] | uncertain significance | 12 | 117288158 | 117288158 | Human | | name |
| 156171950 | CV2286792 | single nucleotide variant | NM_000620.5(NOS1):c.2101C>T (p.Leu701Phe) | not specified [RCV004142596] | uncertain significance | 12 | 117265351 | 117265351 | Human | | name |
| 155935926 | CV2380166 | single nucleotide variant | NM_000620.5(NOS1):c.2021G>A (p.Arg674Gln) | not specified [RCV004224535] | uncertain significance | 12 | 117265431 | 117265431 | Human | | name |
| 329380604 | CV2464243 | single nucleotide variant | NM_000620.5(NOS1):c.2064G>A (p.Met688Ile) | not specified [RCV004276211] | uncertain significance | 12 | 117265388 | 117265388 | Human | | name |
| 401742958 | CV2697978 | single nucleotide variant | NM_000620.5(NOS1):c.1416C>G (p.Asp472Glu) | not specified [RCV004302465] | uncertain significance | 12 | 117280833 | 117280833 | Human | | name |
| 401874705 | CV2756006 | single nucleotide variant | NM_000620.5(NOS1):c.2863A>G (p.Ile955Val) | not specified [RCV004338134] | uncertain significance | 12 | 117243396 | 117243396 | Human | | name |
| 401873726 | CV2757730 | single nucleotide variant | NM_000620.5(NOS1):c.2596G>A (p.Gly866Arg) | not specified [RCV004336881] | uncertain significance | 12 | 117253690 | 117253690 | Human | | name |
| 401863829 | CV2773381 | single nucleotide variant | NM_000620.5(NOS1):c.1339A>T (p.Ile447Phe) | not specified [RCV004354029] | uncertain significance | 12 | 117285284 | 117285284 | Human | | name |
| 401929638 | CV2816915 | single nucleotide variant | NM_000620.5(NOS1):c.2479G>A (p.Gly827Ser) | not provided [RCV003390313] | likely benign | 12 | 117258449 | 117258449 | Human | | name |
| 405678327 | CV3355690 | single nucleotide variant | NM_000620.5(NOS1):c.1061G>A (p.Arg354His) | not specified [RCV004488140] | uncertain significance | 12 | 117288140 | 117288140 | Human | | name |
| 405678336 | CV3355692 | single nucleotide variant | NM_000620.5(NOS1):c.1514A>C (p.Gln505Pro) | not specified [RCV004488142] | uncertain significance | 12 | 117280735 | 117280735 | Human | | name |
| 405678342 | CV3355694 | single nucleotide variant | NM_000620.5(NOS1):c.1877C>T (p.Thr626Met) | not specified [RCV004488144] | uncertain significance | 12 | 117268107 | 117268107 | Human | | name |
| 405678347 | CV3355695 | single nucleotide variant | NM_000620.5(NOS1):c.2278G>A (p.Ala760Thr) | not specified [RCV004488145] | uncertain significance | 12 | 117260554 | 117260554 | Human | | name |
| 405678355 | CV3355697 | single nucleotide variant | NM_000620.5(NOS1):c.2972A>G (p.Asn991Ser) | not specified [RCV004488147] | likely benign | 12 | 117242696 | 117242696 | Human | | name |
| 407509950 | CV3469174 | single nucleotide variant | NM_000620.5(NOS1):c.1417G>A (p.Gly473Ser) | not specified [RCV004647553] | uncertain significance | 12 | 117280832 | 117280832 | Human | | name |
| 407509961 | CV3469178 | single nucleotide variant | NM_000620.5(NOS1):c.2534G>A (p.Ser845Asn) | not specified [RCV004647556] | uncertain significance | 12 | 117253752 | 117253752 | Human | | name |
| 407509964 | CV3469179 | single nucleotide variant | NM_000620.5(NOS1):c.1597G>A (p.Gly533Ser) | not specified [RCV004647557] | uncertain significance | 12 | 117278026 | 117278026 | Human | | name |
| 407509967 | CV3469180 | single nucleotide variant | NM_000620.5(NOS1):c.2899C>T (p.Arg967Cys) | not specified [RCV004647558] | uncertain significance | 12 | 117243360 | 117243360 | Human | | name |
| 407498202 | CV3469181 | single nucleotide variant | NM_000620.5(NOS1):c.2705A>G (p.His902Arg) | not specified [RCV004643941] | uncertain significance | 12 | 117247466 | 117247466 | Human | | name |
| 408367293 | CV3510133 | deletion | NM_000620.5(NOS1):c.3020del (p.Asn1007fs) | NOS1-related disorder [RCV004758368] | uncertain significance | 12 | 117242648 | 117242648 | Human | | name , trait , alternate_id |
| 597673237 | CV3563225 | single nucleotide variant | NM_000620.5(NOS1):c.2377A>G (p.Met793Val) | not specified [RCV004830063] | uncertain significance | 12 | 117259121 | 117259121 | Human | | name |
| 597673243 | CV3563226 | single nucleotide variant | NM_000620.5(NOS1):c.2535C>A (p.Ser845Arg) | not specified [RCV004830064] | uncertain significance | 12 | 117253751 | 117253751 | Human | | name |
| 597673250 | CV3563227 | single nucleotide variant | NM_000620.5(NOS1):c.1106A>G (p.Gln369Arg) | not specified [RCV004830065] | uncertain significance | 12 | 117288095 | 117288095 | Human | | name |
| 597673262 | CV3563228 | single nucleotide variant | NM_000620.5(NOS1):c.2168G>T (p.Gly723Val) | not specified [RCV004830066] | uncertain significance | 12 | 117263943 | 117263943 | Human | | name |
| 597673504 | CV3563230 | single nucleotide variant | NM_000620.5(NOS1):c.1223A>T (p.Tyr408Phe) | not specified [RCV004830068] | uncertain significance | 12 | 117286171 | 117286171 | Human | | name |
| 597673524 | CV3563232 | single nucleotide variant | NM_000620.5(NOS1):c.1930T>A (p.Tyr644Asn) | not specified [RCV004830070] | uncertain significance | 12 | 117268054 | 117268054 | Human | | name |
| 597673542 | CV3563234 | single nucleotide variant | NM_000620.5(NOS1):c.2914A>G (p.Asn972Asp) | not specified [RCV004830072] | uncertain significance | 12 | 117243345 | 117243345 | Human | | name |
| 597673568 | CV3563237 | single nucleotide variant | NM_000620.5(NOS1):c.1957A>G (p.Ile653Val) | not specified [RCV004830075] | uncertain significance | 12 | 117265495 | 117265495 | Human | | name |
| 598207561 | CV4000733 | single nucleotide variant | NM_000620.5(NOS1):c.2017T>A (p.Cys673Ser) | not specified [RCV005377087] | uncertain significance | 12 | 117265435 | 117265435 | Human | | name |
| 598240490 | CV4000740 | single nucleotide variant | NM_000620.5(NOS1):c.1204A>G (p.Lys402Glu) | not specified [RCV005383088] | uncertain significance | 12 | 117286190 | 117286190 | Human | | name |
| 15191761 | CV702155 | single nucleotide variant | NM_000620.5(NOS1):c.1181A>C (p.Asp394Ala) | NOS1-related disorder [RCV003970771]|not provided [RCV000954872] | benign|likely benign | 12 | 117286213 | 117286213 | Human | | name , trait , alternate_id |
| 15166940 | CV713358 | single nucleotide variant | NM_000620.5(NOS1):c.2591G>A (p.Gly864Asp) | NOS1-related disorder [RCV003936116]|not provided [RCV000971295] | benign|likely benign | 12 | 117253695 | 117253695 | Human | | name , trait , alternate_id |
| 15175093 | CV713359 | single nucleotide variant | NM_000620.5(NOS1):c.2173A>G (p.Asn725Asp) | NOS1-related disorder [RCV003918513]|not provided [RCV000972863] | benign | 12 | 117263938 | 117263938 | Human | | name , trait , alternate_id |
| 15171283 | CV713361 | single nucleotide variant | NM_000620.5(NOS1):c.1783G>A (p.Gly595Ser) | NOS1-related disorder [RCV003928530]|not provided [RCV000972167] | benign|likely benign | 12 | 117272441 | 117272441 | Human | | name , trait , alternate_id |
| 15188119 | CV724913 | single nucleotide variant | NM_000620.5(NOS1):c.1855A>T (p.Met619Leu) | NOS1-related disorder [RCV003910505]|not provided [RCV000887441] | likely benign|uncertain significance | 12 | 117268129 | 117268129 | Human | | name , trait , alternate_id |
| 15114366 | CV738471 | single nucleotide variant | NM_000620.5(NOS1):c.2606T>C (p.Leu869Pro) | not provided [RCV000894843] | benign | 12 | 117253680 | 117253680 | Human | | name |
| 8627194 | CV82338 | single nucleotide variant | NM_000620.4(NOS1):c.2312C>T (p.Ser771Leu) | Malignant melanoma [RCV000062417] | not provided | 12 | 117260520 | 117260520 | Human | | name |
| 10401368 | CV205061 | single nucleotide variant | NM_000620.5(NOS1):c.3606C>G (p.Tyr1202Ter) | not provided [RCV000190549] | uncertain significance | 12 | 117227441 | 117227441 | Human | | name |
| 156257534 | CV2219895 | single nucleotide variant | NM_000620.5(NOS1):c.4078G>T (p.Ala1360Ser) | not specified [RCV004095525] | uncertain significance | 12 | 117220167 | 117220167 | Human | | name |
| 156220991 | CV2222432 | single nucleotide variant | NM_000620.5(NOS1):c.3259G>A (p.Glu1087Lys) | not specified [RCV004099288] | uncertain significance | 12 | 117232108 | 117232108 | Human | | name |
| 155917720 | CV2236632 | single nucleotide variant | NM_000620.5(NOS1):c.3614G>A (p.Arg1205Gln) | not specified [RCV004110607] | uncertain significance | 12 | 117227433 | 117227433 | Human | | name |
| 156244836 | CV2243226 | single nucleotide variant | NM_000620.5(NOS1):c.4018G>A (p.Val1340Met) | not specified [RCV004110115] | uncertain significance | 12 | 117220227 | 117220227 | Human | | name |
| 156184224 | CV2255426 | single nucleotide variant | NM_000620.5(NOS1):c.3182C>T (p.Pro1061Leu) | not specified [RCV004117783] | uncertain significance | 12 | 117234618 | 117234618 | Human | | name |
| 156070448 | CV2267164 | single nucleotide variant | NM_000620.5(NOS1):c.3908A>G (p.Gln1303Arg) | not specified [RCV004133852] | uncertain significance | 12 | 117222782 | 117222782 | Human | | name |
| 156161092 | CV2272562 | single nucleotide variant | NM_000620.5(NOS1):c.3329C>T (p.Thr1110Met) | not specified [RCV004133453] | uncertain significance | 12 | 117232038 | 117232038 | Human | | name |
| 156333373 | CV2335979 | single nucleotide variant | NM_000620.5(NOS1):c.3164G>A (p.Arg1055Gln) | not specified [RCV004189588] | uncertain significance | 12 | 117234636 | 117234636 | Human | | name |
| 156209640 | CV2370139 | single nucleotide variant | NM_000620.5(NOS1):c.3608G>A (p.Arg1203His) | not specified [RCV004211023] | likely benign | 12 | 117227439 | 117227439 | Human | | name |
| 329370111 | CV2435478 | single nucleotide variant | NM_000620.5(NOS1):c.3061C>T (p.Arg1021Cys) | not specified [RCV004253124] | uncertain significance | 12 | 117234739 | 117234739 | Human | | name |
| 401776400 | CV2692697 | single nucleotide variant | NM_000620.5(NOS1):c.4291G>A (p.Val1431Ile) | not specified [RCV004312411] | uncertain significance | 12 | 117215323 | 117215323 | Human | | name |
| 401747676 | CV2696765 | single nucleotide variant | NM_000620.5(NOS1):c.3676G>A (p.Asp1226Asn) | not specified [RCV004290737] | uncertain significance | 12 | 117226711 | 117226711 | Human | | name |
| 405278238 | CV3216453 | single nucleotide variant | NM_000620.5(NOS1):c.4057G>A (p.Val1353Ile) | NOS1-related disorder [RCV003954389]|not specified [RCV004828012] | likely benign|uncertain significance | 12 | 117220188 | 117220188 | Human | | name , trait , alternate_id |
| 405678359 | CV3355698 | single nucleotide variant | NM_000620.5(NOS1):c.3058G>A (p.Val1020Met) | not specified [RCV004488148] | uncertain significance | 12 | 117234742 | 117234742 | Human | | name |
| 405678361 | CV3355699 | single nucleotide variant | NM_000620.5(NOS1):c.3637C>T (p.His1213Tyr) | not specified [RCV004488149] | uncertain significance | 12 | 117226750 | 117226750 | Human | | name |
| 405678365 | CV3355700 | single nucleotide variant | NM_000620.5(NOS1):c.3769G>A (p.Gly1257Ser) | not specified [RCV004488150] | uncertain significance | 12 | 117225073 | 117225073 | Human | | name |
| 405678374 | CV3355702 | single nucleotide variant | NM_000620.5(NOS1):c.4147G>A (p.Gly1383Ser) | not specified [RCV004488152] | uncertain significance | 12 | 117220098 | 117220098 | Human | | name |
| 405678379 | CV3355703 | single nucleotide variant | NM_000620.5(NOS1):c.4234C>T (p.Arg1412Cys) | not specified [RCV004488153] | uncertain significance | 12 | 117218101 | 117218101 | Human | | name |
| 405678383 | CV3355704 | single nucleotide variant | NM_000620.5(NOS1):c.4262T>C (p.Ile1421Thr) | not specified [RCV004488154] | uncertain significance | 12 | 117218073 | 117218073 | Human | | name |
| 407509957 | CV3469177 | single nucleotide variant | NM_000620.5(NOS1):c.3491C>T (p.Pro1164Leu) | not specified [RCV004647555] | uncertain significance | 12 | 117227556 | 117227556 | Human | | name |
| 597673494 | CV3563229 | single nucleotide variant | NM_000620.5(NOS1):c.3925G>A (p.Val1309Ile) | not specified [RCV004830067] | uncertain significance | 12 | 117222765 | 117222765 | Human | | name |
| 597673514 | CV3563231 | single nucleotide variant | NM_000620.5(NOS1):c.3001C>T (p.Arg1001Trp) | not specified [RCV004830069] | uncertain significance | 12 | 117242667 | 117242667 | Human | | name |
| 597673550 | CV3563235 | single nucleotide variant | NM_000620.5(NOS1):c.3539A>G (p.Tyr1180Cys) | not specified [RCV004830073] | uncertain significance | 12 | 117227508 | 117227508 | Human | | name |
| 598207556 | CV4000734 | single nucleotide variant | NM_000620.5(NOS1):c.3265C>T (p.Arg1089Cys) | not specified [RCV005377088] | uncertain significance | 12 | 117232102 | 117232102 | Human | | name |
| 598207548 | CV4000736 | single nucleotide variant | NM_000620.5(NOS1):c.3728G>A (p.Arg1243Gln) | not specified [RCV005377089] | uncertain significance | 12 | 117225114 | 117225114 | Human | | name |
| 598207542 | CV4000737 | single nucleotide variant | NM_000620.5(NOS1):c.4105C>T (p.Arg1369Cys) | not specified [RCV005377090] | uncertain significance | 12 | 117220140 | 117220140 | Human | | name |
| 617153967 | CV4022076 | single nucleotide variant | NM_000620.5(NOS1):c.4181G>A (p.Arg1394Gln) | not provided [RCV005429130] | not provided | 12 | 117218154 | 117218154 | Human | | name |
| 15171209 | CV738466 | single nucleotide variant | NM_000620.5(NOS1):c.4264G>C (p.Glu1422Gln) | not provided [RCV000905421] | likely benign | 12 | 117218071 | 117218071 | Human | | name |
| 150466499 | CV1268783 | single nucleotide variant | NM_014697.3(NOS1AP):c.-273C>T | not provided [RCV001694480] | benign | 1 | 162069905 | 162069905 | Human | | name |
| 127292475 | CV1162032 | single nucleotide variant | NM_014697.3(NOS1AP):c.454-6T>A | not specified [RCV001526937] | uncertain significance | 1 | 162343829 | 162343829 | Human | | name |
| 401867959 | CV2749160 | single nucleotide variant | NM_014697.3(NOS1AP):c.596-5T>G | not specified [RCV003331986] | benign | 1 | 162355182 | 162355182 | Human | | name |
| 14691392 | CV621705 | single nucleotide variant | NM_014697.3(NOS1AP):c.762+8A>G | not specified [RCV000781668] | uncertain significance | 1 | 162355361 | 162355361 | Human | | name |
| 41407722 | CV983543 | single nucleotide variant | NM_014697.3(NOS1AP):c.345-3T>G | Nephrotic syndrome, type 22 [RCV001290109] | pathogenic | 1 | 162333014 | 162333014 | Human | 1 | name |
| 150337846 | CV1170619 | single nucleotide variant | NM_014697.3(NOS1AP):c.454-28T>C | not provided [RCV001541880] | benign | 1 | 162343807 | 162343807 | Human | | name |
| 150433429 | CV1216907 | single nucleotide variant | NM_014697.3(NOS1AP):c.270+55A>G | not provided [RCV001608809] | benign | 1 | 162287491 | 162287491 | Human | | name |
| 156451285 | CV2402678 | single nucleotide variant | NM_014697.3(NOS1AP):c.453+18G>A | not specified [RCV003123484] | uncertain significance | 1 | 162333143 | 162333143 | Human | | name |
| 150506252 | CV1213732 | single nucleotide variant | NM_014697.3(NOS1AP):c.106-250G>C | not provided [RCV001595989] | benign | 1 | 162154155 | 162154155 | Human | | name |
| 150497394 | CV1219399 | single nucleotide variant | NM_014697.3(NOS1AP):c.454-240T>A | not provided [RCV001620068] | benign | 1 | 162343595 | 162343595 | Human | | name |
| 150481494 | CV1222173 | single nucleotide variant | NM_014697.3(NOS1AP):c.345-242G>A | not provided [RCV001616971] | benign | 1 | 162332775 | 162332775 | Human | | name |
| 150503882 | CV1223839 | single nucleotide variant | NM_014697.3(NOS1AP):c.454-107A>G | not provided [RCV001621488] | benign | 1 | 162343728 | 162343728 | Human | | name |
| 150517072 | CV1227809 | single nucleotide variant | NM_014697.3(NOS1AP):c.940-142C>T | not provided [RCV001639612] | benign | 1 | 162365262 | 162365262 | Human | | name |
| 150511692 | CV1229525 | single nucleotide variant | NM_014697.3(NOS1AP):c.762+127G>A | not provided [RCV001637454] | benign | 1 | 162355480 | 162355480 | Human | | name |
| 150508442 | CV1229645 | single nucleotide variant | NM_014697.3(NOS1AP):c.762+226G>A | not provided [RCV001636223] | benign | 1 | 162355579 | 162355579 | Human | | name |
| 150463526 | CV1235069 | single nucleotide variant | NM_014697.3(NOS1AP):c.178-259A>G | not provided [RCV001649651] | benign | 1 | 162287085 | 162287085 | Human | | name |
| 150491661 | CV1239315 | single nucleotide variant | NM_014697.3(NOS1AP):c.178-101C>G | not provided [RCV001654883] | benign | 1 | 162287243 | 162287243 | Human | | name |
| 150504555 | CV1240777 | single nucleotide variant | NM_014697.3(NOS1AP):c.1105+65T>C | not provided [RCV001657620] | benign | 1 | 162365634 | 162365634 | Human | | name |
| 150496170 | CV1272815 | duplication | NM_014697.3(NOS1AP):c.270+264dup | not provided [RCV001688738] | benign | 1 | 162287694 | 162287695 | Human | | name |
| 150443697 | CV1277892 | single nucleotide variant | NM_014697.3(NOS1AP):c.270+265T>C | not provided [RCV001707035] | benign | 1 | 162287701 | 162287701 | Human | | name |
| 150495970 | CV1283122 | single nucleotide variant | NM_014697.3(NOS1AP):c.345-118C>T | not provided [RCV001717510] | benign | 1 | 162332899 | 162332899 | Human | | name |
| 150444515 | CV1288033 | single nucleotide variant | NM_014697.3(NOS1AP):c.345-172T>C | not provided [RCV001725755] | benign | 1 | 162332845 | 162332845 | Human | | name |
| 150444517 | CV1288034 | single nucleotide variant | NM_014697.3(NOS1AP):c.105+233C>A | not provided [RCV001725756] | benign | 1 | 162070515 | 162070515 | Human | | name |
| 150542346 | CV1307740 | single nucleotide variant | NM_014697.3(NOS1AP):c.940-313T>C | not provided [RCV001769515] | likely benign | 1 | 162365091 | 162365091 | Human | | name |
| 150539317 | CV1308651 | single nucleotide variant | NM_014697.3(NOS1AP):c.345-228C>T | not provided [RCV001766155] | likely benign | 1 | 162332789 | 162332789 | Human | | name |
| 8574986 | CV109326 | single nucleotide variant | NM_014697.2(NOS1AP):c.106-2067A>T | Lung cancer [RCV000089851] | uncertain significance | 1 | 162152338 | 162152338 | Human | | name |
| 8574987 | CV109327 | single nucleotide variant | NM_014697.2(NOS1AP):c.454-1521G>A | Lung cancer [RCV000089852] | uncertain significance | 1 | 162342314 | 162342314 | Human | | name |
| 150468270 | CV1218891 | single nucleotide variant | NM_014697.3(NOS1AP):c.940-2673T>A | not provided [RCV001614643] | benign | 1 | 162362731 | 162362731 | Human | | name |
| 150460902 | CV1231408 | single nucleotide variant | NM_014697.3(NOS1AP):c.1106-303A>G | not provided [RCV001640973] | benign | 1 | 162366749 | 162366749 | Human | | name |
| 150439733 | CV1287082 | single nucleotide variant | NM_014697.3(NOS1AP):c.1105+141T>C | not provided [RCV001724997] | benign | 1 | 162365710 | 162365710 | Human | | name |
| 150485487 | CV1223007 | insertion | NM_014697.3(NOS1AP):c.940-318_940-317insCACG | not provided [RCV001617719] | benign | 1 | 162365085 | 162365086 | Human | | name |
| 150442695 | CV1233742 | insertion | NM_014697.3(NOS1AP):c.940-313_940-312insGTGC | not provided [RCV001645430] | benign | 1 | 162365091 | 162365092 | Human | | name |
| 401923022 | CV2796679 | single nucleotide variant | NM_014697.3(NOS1AP):c.1349G>C (p.Gly450Ala) | NOS1AP-related disorder [RCV003404298] | uncertain significance | 1 | 162367295 | 162367295 | Human | | name , trait , alternate_id |
| 15124571 | CV731827 | single nucleotide variant | NM_014697.3(NOS1AP):c.1003G>A (p.Val335Met) | NOS1AP-related disorder [RCV003975680]|not provided [RCV000896616] | likely benign | 1 | 162365467 | 162365467 | Human | 1 | name , trait , alternate_id |
| 150499943 | CV1283124 | single nucleotide variant | NM_014697.3(NOS1AP):c.564C>T (p.Ser188=) | not provided [RCV001718291] | benign | 1 | 162343945 | 162343945 | Human | | name |
| 150546766 | CV1291650 | single nucleotide variant | NM_014697.3(NOS1AP):c.400C>A (p.Arg134=) | not specified [RCV001733400] | benign | 1 | 162333072 | 162333072 | Human | | name |
| 329394325 | CV2469813 | single nucleotide variant | NM_014697.3(NOS1AP):c.46C>G (p.Leu16Val) | not specified [RCV004285306] | uncertain significance | 1 | 162070223 | 162070223 | Human | | name |
| 401933124 | CV2806127 | single nucleotide variant | NM_014697.3(NOS1AP):c.654C>T (p.Ile218=) | not provided [RCV003409213] | likely benign | 1 | 162355245 | 162355245 | Human | | name |
| 401933125 | CV2806128 | single nucleotide variant | NM_014697.3(NOS1AP):c.771C>T (p.His257=) | not provided [RCV003409214] | likely benign | 1 | 162356968 | 162356968 | Human | | name |
| 8603002 | CV45323 | single nucleotide variant | NM_014697.3(NOS1AP):c.864C>T (p.Ser288=) | Cardiac arrhythmia [RCV001841538]|Nephrotic syndrome, type 22 [RCV002504833]|not provided [RCV000958052] | benign|likely benign | 1 | 162357061 | 162357061 | Human | 3 | name |
| 13520570 | CV486842 | single nucleotide variant | NM_014697.3(NOS1AP):c.384C>T (p.Ile128=) | not provided [RCV000587982] | benign|likely benign | 1 | 162333056 | 162333056 | Human | | name |
| 13519539 | CV486850 | single nucleotide variant | NM_014697.3(NOS1AP):c.40C>A (p.His14Asn) | not provided [RCV000586086] | uncertain significance | 1 | 162070217 | 162070217 | Human | | name |
| 13521709 | CV486855 | single nucleotide variant | NM_014697.3(NOS1AP):c.528G>A (p.Thr176=) | not specified [RCV000589958] | likely benign|uncertain significance | 1 | 162343909 | 162343909 | Human | | name |
| 14689949 | CV621063 | single nucleotide variant | NM_014697.3(NOS1AP):c.300G>A (p.Thr100=) | not specified [RCV000780550] | benign | 1 | 162300662 | 162300662 | Human | | name |
| 15163994 | CV696225 | single nucleotide variant | NM_014697.3(NOS1AP):c.615C>T (p.Ala205=) | not provided [RCV000948228] | benign | 1 | 162355206 | 162355206 | Human | | name |
| 34896010 | CV916801 | single nucleotide variant | NM_014697.3(NOS1AP):c.92G>A (p.Cys31Tyr) | not specified [RCV001193263] | uncertain significance | 1 | 162070269 | 162070269 | Human | | name |
| 34896011 | CV916802 | single nucleotide variant | NM_014697.3(NOS1AP):c.576C>T (p.Ser192=) | not specified [RCV001193264] | benign | 1 | 162343957 | 162343957 | Human | | name |
| 150482865 | CV1223495 | single nucleotide variant | NM_014697.3(NOS1AP):c.1002C>T (p.Arg334=) | Nephrotic syndrome, type 22 [RCV002495968]|not provided [RCV001617208] | benign | 1 | 162365466 | 162365466 | Human | 1 | name |
| 150534988 | CV1311728 | single nucleotide variant | NM_014697.3(NOS1AP):c.1317C>A (p.Thr439=) | not specified [RCV001779539] | benign | 1 | 162367263 | 162367263 | Human | | name |
| 155730209 | CV1780754 | single nucleotide variant | NM_014697.3(NOS1AP):c.1350C>T (p.Gly450=) | not specified [RCV002308538] | benign | 1 | 162367296 | 162367296 | Human | | name |
| 401742691 | CV2715294 | single nucleotide variant | NM_014697.3(NOS1AP):c.275T>A (p.Leu92His) | not specified [RCV004324632] | uncertain significance | 1 | 162300637 | 162300637 | Human | | name |
| 401886613 | CV2776657 | single nucleotide variant | NM_014697.3(NOS1AP):c.151A>G (p.Ile51Val) | not specified [RCV004357827] | uncertain significance | 1 | 162154450 | 162154450 | Human | | name |
| 405678414 | CV3355710 | single nucleotide variant | NM_014697.3(NOS1AP):c.195G>C (p.Lys65Asn) | not specified [RCV004488160] | uncertain significance | 1 | 162287361 | 162287361 | Human | | name |
| 405678418 | CV3355711 | single nucleotide variant | NM_014697.3(NOS1AP):c.220A>T (p.Ile74Phe) | not specified [RCV004488161] | uncertain significance | 1 | 162287386 | 162287386 | Human | | name |
| 13519445 | CV486845 | single nucleotide variant | NM_014697.3(NOS1AP):c.1434G>C (p.Ser478=) | not provided [RCV000585936] | benign | 1 | 162367380 | 162367380 | Human | | name |
| 13542070 | CV511045 | single nucleotide variant | NM_014697.3(NOS1AP):c.268A>G (p.Lys90Glu) | not specified [RCV000623880] | uncertain significance | 1 | 162287434 | 162287434 | Human | | name |
| 126728761 | CV985583 | single nucleotide variant | NM_014697.3(NOS1AP):c.1275G>A (p.Leu425=) | not specified [RCV001293514] | likely benign | 1 | 162367221 | 162367221 | Human | | name |
| 10398646 | CV204067 | single nucleotide variant | NM_014697.3(NOS1AP):c.824C>T (p.Ser275Phe) | Long QT syndrome [RCV000190226] | uncertain significance | 1 | 162357021 | 162357021 | Human | 2 | name |
| 156146034 | CV2196848 | single nucleotide variant | NM_014697.3(NOS1AP):c.857C>T (p.Pro286Leu) | not specified [RCV004069857] | uncertain significance | 1 | 162357054 | 162357054 | Human | | name |
| 155985729 | CV2282388 | single nucleotide variant | NM_014697.3(NOS1AP):c.696A>C (p.Glu232Asp) | not specified [RCV004133206] | uncertain significance | 1 | 162355287 | 162355287 | Human | | name |
| 156259620 | CV2322245 | single nucleotide variant | NM_014697.3(NOS1AP):c.346A>G (p.Ile116Val) | not specified [RCV004176016] | uncertain significance | 1 | 162333018 | 162333018 | Human | | name |
| 156082422 | CV2384852 | single nucleotide variant | NM_014697.3(NOS1AP):c.771C>A (p.His257Gln) | not specified [RCV004225733] | uncertain significance | 1 | 162356968 | 162356968 | Human | | name |
| 401881123 | CV2788028 | single nucleotide variant | NM_014697.3(NOS1AP):c.617A>G (p.Glu206Gly) | not specified [RCV004358680] | uncertain significance | 1 | 162355208 | 162355208 | Human | | name |
| 405678433 | CV3351863 | single nucleotide variant | NM_014697.3(NOS1AP):c.587G>T (p.Gly196Val) | not specified [RCV004488164] | uncertain significance | 1 | 162343968 | 162343968 | Human | | name |
| 405678438 | CV3351864 | single nucleotide variant | NM_014697.3(NOS1AP):c.620G>A (p.Arg207Lys) | not specified [RCV004488165] | uncertain significance | 1 | 162355211 | 162355211 | Human | | name |
| 405678442 | CV3351865 | single nucleotide variant | NM_014697.3(NOS1AP):c.659C>T (p.Ala220Val) | not specified [RCV004488166] | uncertain significance | 1 | 162355250 | 162355250 | Human | | name |
| 405678451 | CV3351867 | single nucleotide variant | NM_014697.3(NOS1AP):c.833C>T (p.Pro278Leu) | not specified [RCV004488168] | uncertain significance | 1 | 162357030 | 162357030 | Human | | name |
| 405678422 | CV3355712 | single nucleotide variant | NM_014697.3(NOS1AP):c.414C>G (p.Ser138Arg) | not specified [RCV004488162] | uncertain significance | 1 | 162333086 | 162333086 | Human | | name |
| 405678427 | CV3355713 | single nucleotide variant | NM_014697.3(NOS1AP):c.535A>G (p.Asn179Asp) | not specified [RCV004488163] | uncertain significance | 1 | 162343916 | 162343916 | Human | | name |
| 597673576 | CV3563238 | single nucleotide variant | NM_014697.3(NOS1AP):c.591C>A (p.Asp197Glu) | not specified [RCV004830076] | uncertain significance | 1 | 162343972 | 162343972 | Human | | name |
| 597673582 | CV3563239 | single nucleotide variant | NM_014697.3(NOS1AP):c.616G>A (p.Glu206Lys) | not specified [RCV004830077] | uncertain significance | 1 | 162355207 | 162355207 | Human | | name |
| 597673589 | CV3563240 | single nucleotide variant | NM_014697.3(NOS1AP):c.767C>T (p.Ser256Leu) | not specified [RCV004830078] | uncertain significance | 1 | 162356964 | 162356964 | Human | | name |
| 598207516 | CV4000744 | single nucleotide variant | NM_014697.3(NOS1AP):c.638C>G (p.Ala213Gly) | not specified [RCV005377094] | uncertain significance | 1 | 162355229 | 162355229 | Human | | name |
| 598207509 | CV4000745 | single nucleotide variant | NM_014697.3(NOS1AP):c.786G>A (p.Met262Ile) | not specified [RCV005377095] | uncertain significance | 1 | 162356983 | 162356983 | Human | | name |
| 598207503 | CV4000746 | single nucleotide variant | NM_014697.3(NOS1AP):c.866C>T (p.Thr289Ile) | not specified [RCV005377096] | uncertain significance | 1 | 162357063 | 162357063 | Human | | name |
| 598207496 | CV4000747 | single nucleotide variant | NM_014697.3(NOS1AP):c.313A>G (p.Lys105Glu) | not specified [RCV005377097] | uncertain significance | 1 | 162300675 | 162300675 | Human | | name |
| 15184924 | CV718339 | single nucleotide variant | NM_014697.3(NOS1AP):c.311G>A (p.Ser104Asn) | not provided [RCV000886557] | benign | 1 | 162300673 | 162300673 | Human | | name |
| 41407720 | CV983542 | single nucleotide variant | NM_014697.3(NOS1AP):c.428G>A (p.Cys143Tyr) | Nephrotic syndrome, type 22 [RCV001290108] | pathogenic | 1 | 162333100 | 162333100 | Human | 1 | name |
| 150534985 | CV1311727 | single nucleotide variant | NM_014697.3(NOS1AP):c.1309G>A (p.Glu437Lys) | not specified [RCV001779538] | likely benign | 1 | 162367255 | 162367255 | Human | | name |
| 151348294 | CV1323972 | single nucleotide variant | NM_014697.3(NOS1AP):c.1259G>C (p.Gly420Ala) | Nephrotic syndrome, type 22 [RCV001807882] | uncertain significance | 1 | 162367205 | 162367205 | Human | 1 | name |
| 10398645 | CV204068 | single nucleotide variant | NM_014697.3(NOS1AP):c.1276G>A (p.Val426Met) | Long QT syndrome [RCV000190225] | uncertain significance | 1 | 162367222 | 162367222 | Human | 2 | name |
| 156339725 | CV2229328 | single nucleotide variant | NM_014697.3(NOS1AP):c.1034T>G (p.Met345Arg) | not specified [RCV004101120] | uncertain significance | 1 | 162365498 | 162365498 | Human | | name |
| 156164893 | CV2389743 | single nucleotide variant | NM_014697.3(NOS1AP):c.1001G>A (p.Arg334His) | not specified [RCV004243789] | uncertain significance | 1 | 162365465 | 162365465 | Human | | name |
| 401770347 | CV2715145 | single nucleotide variant | NM_014697.3(NOS1AP):c.1285G>C (p.Glu429Gln) | not specified [RCV004322715] | uncertain significance | 1 | 162367231 | 162367231 | Human | | name |
| 405678407 | CV3355709 | single nucleotide variant | NM_014697.3(NOS1AP):c.1175C>T (p.Thr392Met) | not specified [RCV004488159] | uncertain significance | 1 | 162367121 | 162367121 | Human | | name |
| 407509973 | CV3469184 | single nucleotide variant | NM_014697.3(NOS1AP):c.1219G>A (p.Gly407Ser) | not specified [RCV004647560] | uncertain significance | 1 | 162367165 | 162367165 | Human | | name |
| 597673599 | CV3563241 | single nucleotide variant | NM_014697.3(NOS1AP):c.1184A>G (p.Lys395Arg) | not specified [RCV004830079] | uncertain significance | 1 | 162367130 | 162367130 | Human | | name |
| 598240484 | CV4000742 | single nucleotide variant | NM_014697.3(NOS1AP):c.1140C>A (p.Phe380Leu) | not specified [RCV005383089] | uncertain significance | 1 | 162367086 | 162367086 | Human | | name |
| 598207522 | CV4000743 | single nucleotide variant | NM_014697.3(NOS1AP):c.1502A>G (p.Asp501Gly) | not specified [RCV005377093] | uncertain significance | 1 | 162367448 | 162367448 | Human | | name |
| 8603001 | CV45322 | single nucleotide variant | NM_014697.3(NOS1AP):c.1217C>T (p.Ala406Val) | not provided [RCV003221787]|not specified [RCV000030340] | benign|likely benign|uncertain significance | 1 | 162367163 | 162367163 | Human | | name |
| 13521567 | CV486869 | single nucleotide variant | NM_014697.3(NOS1AP):c.1205C>T (p.Pro402Leu) | not specified [RCV001804173] | uncertain significance | 1 | 162367151 | 162367151 | Human | | name |