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


214 records found for search term Thsd7a
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15184028CV775122single nucleotide variantNM_015204.3(THSD7A):c.1453+9T>Cnot provided [RCV000930717]likely benign71159045111590451Humanname
15186325CV777810deletionNM_015204.3(THSD7A):c.4890-5delnot provided [RCV000953250]benign71137588311375883Humanname
405282240CV3216299single nucleotide variantNM_015204.3(THSD7A):c.3244-10A>CTHSD7A-related disorder [RCV003956810]likely benign71142668111426681Humanname , trait , alternate_id
15134510CV744174single nucleotide variantNM_015204.3(THSD7A):c.3798+10T>Cnot provided [RCV000898302]likely benign71141119711411197Humanname
15190157CV775275single nucleotide variantNM_015204.3(THSD7A):c.2253-10G>Anot provided [RCV000932442]likely benign71147000411470004Humanname
8590217CV124908single nucleotide variantNM_015204.2(THSD7A):c.3065-4764T>ALung cancer [RCV000105427]uncertain significance71143388911433889Humanname
8590231CV124921single nucleotide variantNM_015204.2(THSD7A):c.1023-4192G>CLung cancer [RCV000105440]uncertain significance71159769411597694Humanname
8590223CV124914single nucleotide variantNM_015204.2(THSD7A):c.1823-12363G>ALung cancer [RCV000105433]uncertain significance71149434511494345Humanname
156261692CV2204922single nucleotide variantNM_015204.3(THSD7A):c.80C>G (p.Pro27Arg)not specified [RCV004075162]uncertain significance71183186711831867Humanname
401739033CV2673208single nucleotide variantNM_015204.3(THSD7A):c.38G>C (p.Arg13Pro)not specified [RCV004286016]likely benign71183190911831909Humanname
404994835CV2851268single nucleotide variantNM_015204.3(THSD7A):c.77T>C (p.Leu26Pro)not provided [RCV003491669]uncertain significance71183187011831870Humanname
405750712CV3335640single nucleotide variantNM_015204.3(THSD7A):c.59G>T (p.Arg20Leu)not specified [RCV004467058]uncertain significance71183188811831888Humanname
407520191CV3479015single nucleotide variantNM_015204.3(THSD7A):c.80C>T (p.Pro27Leu)not specified [RCV004676872]likely benign71183186711831867Humanname
597763590CV3613187single nucleotide variantNM_015204.3(THSD7A):c.46G>A (p.Ala16Thr)not specified [RCV004869894]uncertain significance71183190111831901Humanname
15161837CV710720single nucleotide variantNM_015204.3(THSD7A):c.984T>C (p.Val328=)not provided [RCV000970160]benign71163616811636168Humanname
15135880CV710721single nucleotide variantNM_015204.3(THSD7A):c.708G>A (p.Thr236=)not provided [RCV000965358]benign71163644411636444Humanname
15174640CV710722single nucleotide variantNM_015204.3(THSD7A):c.684A>G (p.Gly228=)not provided [RCV000972760]benign71163646811636468Humanname
15184032CV765994single nucleotide variantNM_015204.3(THSD7A):c.660T>C (p.His220=)not provided [RCV000930718]likely benign71163649211636492Humanname
156335506CV2333537single nucleotide variantNM_015204.3(THSD7A):c.134G>C (p.Gly45Ala)not specified [RCV004190224]uncertain significance71183181311831813Humanname
156089154CV2359335single nucleotide variantNM_015204.3(THSD7A):c.259G>A (p.Ala87Thr)not specified [RCV004212616]uncertain significance71163689311636893Humanname
401752928CV2681060single nucleotide variantNM_015204.3(THSD7A):c.151G>A (p.Gly51Ser)not specified [RCV004296121]uncertain significance71183179611831796Humanname
401742522CV2697798single nucleotide variantNM_015204.3(THSD7A):c.172C>A (p.Leu58Ile)not specified [RCV004300519]uncertain significance71183177511831775Humanname
401925606CV2828322single nucleotide variantNM_015204.3(THSD7A):c.2487G>A (p.Ala829=)not provided [RCV003436658]likely benign71146202511462025Humanname
405750572CV3335620single nucleotide variantNM_015204.3(THSD7A):c.286C>T (p.His96Tyr)not specified [RCV004467038]uncertain significance71163686611636866Humanname
407498317CV3479024single nucleotide variantNM_015204.3(THSD7A):c.236T>A (p.Ile79Asn)not specified [RCV004668629]uncertain significance71163691611636916Humanname
407498329CV3479027single nucleotide variantNM_015204.3(THSD7A):c.133G>C (p.Gly45Arg)not specified [RCV004668632]uncertain significance71183181411831814Humanname
597763519CV3613167single nucleotide variantNM_015204.3(THSD7A):c.130G>A (p.Ala44Thr)not specified [RCV004869878]uncertain significance71183181711831817Humanname
597763550CV3613176single nucleotide variantNM_015204.3(THSD7A):c.260C>T (p.Ala87Val)not specified [RCV004869885]uncertain significance71163689211636892Humanname
597763577CV3613183single nucleotide variantNM_015204.3(THSD7A):c.215A>G (p.Asp72Gly)not specified [RCV004869891]uncertain significance71163693711636937Humanname
597763586CV3613186single nucleotide variantNM_015204.3(THSD7A):c.143C>T (p.Ala48Val)not specified [RCV004869893]uncertain significance71183180411831804Humanname
597763599CV3613189single nucleotide variantNM_015204.3(THSD7A):c.170C>T (p.Thr57Ile)not specified [RCV004869896]uncertain significance71183177711831777Humanname
598176270CV3913663single nucleotide variantNM_015204.3(THSD7A):c.1668C>T (p.Thr556=)not specified [RCV005285609]likely benign71154157311541573Humanname
598185496CV3913665single nucleotide variantNM_015204.3(THSD7A):c.1962G>T (p.Thr654=)not specified [RCV005287443]likely benign71148184311481843Humanname
15158052CV699763single nucleotide variantNM_015204.3(THSD7A):c.2487G>T (p.Ala829=)not provided [RCV000947001]benign71146202511462025Humanname
15185055CV722260single nucleotide variantNM_015204.3(THSD7A):c.2235C>G (p.Gly745=)not provided [RCV000886592]likely benign71147435111474351Humanname
15112497CV750355single nucleotide variantNM_015204.3(THSD7A):c.1578T>C (p.Tyr526=)not provided [RCV000916921]likely benign71154299311542993Humanname
156149969CV2234933single nucleotide variantNM_015204.3(THSD7A):c.655C>T (p.Arg219Cys)not specified [RCV004113136]uncertain significance71163649711636497Humanname
156174858CV2290402single nucleotide variantNM_015204.3(THSD7A):c.869G>T (p.Gly290Val)not specified [RCV004154822]uncertain significance71163628311636283Humanname
156069348CV2320619single nucleotide variantNM_015204.3(THSD7A):c.314C>T (p.Pro105Leu)not specified [RCV004172234]uncertain significance71163683811636838Humanname
155907108CV2354366single nucleotide variantNM_015204.3(THSD7A):c.997A>G (p.Lys333Glu)not specified [RCV004200320]uncertain significance71163615511636155Humanname
329390758CV2455439single nucleotide variantNM_015204.3(THSD7A):c.589G>C (p.Val197Leu)not specified [RCV004276711]uncertain significance71163656311636563Humanname
329389170CV2469714single nucleotide variantNM_015204.3(THSD7A):c.574C>G (p.Gln192Glu)not specified [RCV004283124]uncertain significance71163657811636578Humanname
401739894CV2683199single nucleotide variantNM_015204.3(THSD7A):c.745G>A (p.Glu249Lys)not specified [RCV004286195]uncertain significance71163640711636407Humanname
401734322CV2690551single nucleotide variantNM_015204.3(THSD7A):c.389A>G (p.Asn130Ser)not specified [RCV004304656]uncertain significance71163676311636763Humanname
401735971CV2703005single nucleotide variantNM_015204.3(THSD7A):c.775C>T (p.Pro259Ser)not specified [RCV004321316]uncertain significance71163637711636377Humanname
401879554CV2755206single nucleotide variantNM_015204.3(THSD7A):c.539A>G (p.Lys180Arg)not specified [RCV004337396]uncertain significance71163661311636613Humanname
401908149CV2801222single nucleotide variantNM_015204.3(THSD7A):c.526T>C (p.Tyr176His)THSD7A-related disorder [RCV003397463]uncertain significance71163662611636626Humanname , trait , alternate_id
405750659CV3335632single nucleotide variantNM_015204.3(THSD7A):c.401C>T (p.Pro134Leu)not specified [RCV004467050]uncertain significance71163675111636751Humanname
405750665CV3335633single nucleotide variantNM_015204.3(THSD7A):c.413A>G (p.Lys138Arg)not specified [RCV004467051]uncertain significance71163673911636739Humanname
405750682CV3335635single nucleotide variantNM_015204.3(THSD7A):c.463G>C (p.Val155Leu)not specified [RCV004467053]uncertain significance71163668911636689Humanname
405750721CV3335641single nucleotide variantNM_015204.3(THSD7A):c.812T>G (p.Val271Gly)not specified [RCV004467059]uncertain significance71163634011636340Humanname
407520179CV3479010single nucleotide variantNM_015204.3(THSD7A):c.304G>A (p.Ala102Thr)not specified [RCV004676868]uncertain significance71163684811636848Humanname
407520188CV3479013single nucleotide variantNM_015204.3(THSD7A):c.439A>G (p.Ile147Val)not specified [RCV004676871]likely benign71163671311636713Humanname
407498289CV3479016single nucleotide variantNM_015204.3(THSD7A):c.887C>T (p.Ala296Val)not specified [RCV004668623]uncertain significance71163626511636265Humanname
407498293CV3479017single nucleotide variantNM_015204.3(THSD7A):c.907A>C (p.Lys303Gln)not specified [RCV004668624]uncertain significance71163624511636245Humanname
407498304CV3479019single nucleotide variantNM_015204.3(THSD7A):c.875A>C (p.Lys292Thr)not specified [RCV004668626]uncertain significance71163627711636277Humanname
407498325CV3479026single nucleotide variantNM_015204.3(THSD7A):c.318T>A (p.Asn106Lys)not specified [RCV004668631]uncertain significance71163683411636834Humanname
597795105CV3613158single nucleotide variantNM_015204.3(THSD7A):c.313C>T (p.Pro105Ser)not specified [RCV004878077]uncertain significance71163683911636839Humanname
597763523CV3613168single nucleotide variantNM_015204.3(THSD7A):c.535C>T (p.Pro179Ser)not specified [RCV004869879]uncertain significance71163661711636617Humanname
597763535CV3613172single nucleotide variantNM_015204.3(THSD7A):c.962T>C (p.Ile321Thr)not specified [RCV004869882]uncertain significance71163619011636190Humanname
597763546CV3613175single nucleotide variantNM_015204.3(THSD7A):c.369C>A (p.Asp123Glu)not specified [RCV004869884]uncertain significance71163678311636783Humanname
597763568CV3613181single nucleotide variantNM_015204.3(THSD7A):c.637G>A (p.Gly213Arg)not specified [RCV004869889]uncertain significance71163651511636515Humanname
597763573CV3613182single nucleotide variantNM_015204.3(THSD7A):c.806G>A (p.Arg269Gln)not specified [RCV004869890]uncertain significance71163634611636346Humanname
598185445CV3913656single nucleotide variantNM_015204.3(THSD7A):c.595G>A (p.Glu199Lys)not specified [RCV005287435]uncertain significance71163655711636557Humanname
15193440CV699760single nucleotide variantNM_015204.3(THSD7A):c.4956T>C (p.Asp1652=)not provided [RCV000955370]benign71137581211375812Humanname
15197443CV699762single nucleotide variantNM_015204.3(THSD7A):c.4560G>A (p.Pro1520=)not provided [RCV000956466]benign71137966011379660Humanname
15191667CV722257single nucleotide variantNM_015204.3(THSD7A):c.4806G>A (p.Gly1602=)not provided [RCV000888443]likely benign71137665311376653Humanname
156314518CV2196654single nucleotide variantNM_015204.3(THSD7A):c.1531A>T (p.Thr511Ser)not specified [RCV004073918]uncertain significance71154304011543040Humanname
156192698CV2202415single nucleotide variantNM_015204.3(THSD7A):c.2861A>C (p.Gln954Pro)not specified [RCV004080726]uncertain significance71144626411446264Humanname
156273694CV2202533single nucleotide variantNM_015204.3(THSD7A):c.1489C>T (p.Pro497Ser)not specified [RCV004080826]uncertain significance71154308211543082Humanname
155923203CV2215505single nucleotide variantNM_015204.3(THSD7A):c.2467G>T (p.Ala823Ser)not specified [RCV004089292]uncertain significance71146204511462045Humanname
156256220CV2219740single nucleotide variantNM_015204.3(THSD7A):c.1628G>A (p.Arg543Gln)not specified [RCV004095437]uncertain significance71154161311541613Humanname
155918576CV2236862single nucleotide variantNM_015204.3(THSD7A):c.2270G>A (p.Arg757Gln)not specified [RCV004112619]uncertain significance71146997711469977Humanname
156031229CV2239082single nucleotide variantNM_015204.3(THSD7A):c.2164T>C (p.Trp722Arg)not specified [RCV004112086]uncertain significance71147442211474422Humanname
156296062CV2239880single nucleotide variantNM_015204.3(THSD7A):c.1715C>G (p.Ala572Gly)not specified [RCV004108389]uncertain significance71154152611541526Humanname
156244467CV2243111single nucleotide variantNM_015204.3(THSD7A):c.2189T>C (p.Val730Ala)not specified [RCV004110020]uncertain significance71147439711474397Humanname
156299702CV2244790single nucleotide variantNM_015204.3(THSD7A):c.1331A>G (p.Gln444Arg)not specified [RCV004102771]uncertain significance71159058211590582Humanname
156234793CV2245371single nucleotide variantNM_015204.3(THSD7A):c.1410C>G (p.Asn470Lys)not specified [RCV004109166]uncertain significance71159050311590503Humanname
156138038CV2280632single nucleotide variantNM_015204.3(THSD7A):c.1987C>G (p.Arg663Gly)not specified [RCV004143107]uncertain significance71148181811481818Humanname
155992480CV2281214single nucleotide variantNM_015204.3(THSD7A):c.1109G>T (p.Ser370Ile)not specified [RCV004147463]uncertain significance71159341611593416Humanname
156076408CV2281584single nucleotide variantNM_015204.3(THSD7A):c.1640A>G (p.Asn547Ser)not specified [RCV004153882]uncertain significance71154160111541601Humanname
156279154CV2297610single nucleotide variantNM_015204.3(THSD7A):c.2060G>A (p.Arg687Gln)not specified [RCV004155307]uncertain significance71147452611474526Humanname
156042170CV2310950single nucleotide variantNM_015204.3(THSD7A):c.2399A>G (p.His800Arg)not specified [RCV004163984]uncertain significance71146211311462113Humanname
156101121CV2313462single nucleotide variantNM_015204.3(THSD7A):c.2669G>A (p.Gly890Asp)not specified [RCV004163775]uncertain significance71144736111447361Humanname
156268948CV2326339single nucleotide variantNM_015204.3(THSD7A):c.1360C>T (p.Leu454Phe)not specified [RCV004180879]uncertain significance71159055311590553Humanname
156168817CV2345475single nucleotide variantNM_015204.3(THSD7A):c.2548G>A (p.Val850Met)not specified [RCV004198244]uncertain significance71146071911460719Humanname
155928436CV2346664single nucleotide variantNM_015204.3(THSD7A):c.2618G>A (p.Arg873His)not specified [RCV004199687]uncertain significance71144741211447412Humanname
156117595CV2349485single nucleotide variantNM_015204.3(THSD7A):c.2407A>G (p.Ile803Val)THSD7A-related disorder [RCV003963768]|not specified [RCV004201454]likely benign|uncertain significance71146210511462105Humanname , trait , alternate_id
156135792CV2357038single nucleotide variantNM_015204.3(THSD7A):c.2027G>A (p.Arg676His)not specified [RCV004206842]likely benign71147455911474559Humanname
156385708CV2364545single nucleotide variantNM_015204.3(THSD7A):c.1753G>A (p.Glu585Lys)not specified [RCV004217404]uncertain significance71154148811541488Humanname
156165893CV2398870single nucleotide variantNM_015204.3(THSD7A):c.1004G>A (p.Gly335Glu)not specified [RCV004245191]uncertain significance71163614811636148Humanname
329398879CV2443049single nucleotide variantNM_015204.3(THSD7A):c.2265C>A (p.Ser755Arg)not specified [RCV004253637]uncertain significance71146998211469982Humanname
329353480CV2466745single nucleotide variantNM_015204.3(THSD7A):c.2081G>A (p.Cys694Tyr)not specified [RCV004280700]uncertain significance71147450511474505Humanname
329375868CV2468877single nucleotide variantNM_015204.3(THSD7A):c.1531A>G (p.Thr511Ala)not specified [RCV004280180]uncertain significance71154304011543040Humanname
401728993CV2673115single nucleotide variantNM_015204.3(THSD7A):c.1189A>T (p.Ile397Phe)not specified [RCV004284099]uncertain significance71159333611593336Humanname
401760657CV2695117single nucleotide variantNM_015204.3(THSD7A):c.1838G>C (p.Arg613Thr)not specified [RCV004303273]uncertain significance71148196711481967Humanname
401733065CV2712960single nucleotide variantNM_015204.3(THSD7A):c.1870C>T (p.Pro624Ser)not specified [RCV004314669]uncertain significance71148193511481935Humanname
401782550CV2719873single nucleotide variantNM_015204.3(THSD7A):c.2480C>A (p.Pro827His)not specified [RCV004329282]uncertain significance71146203211462032Humanname
401780627CV2727480single nucleotide variantNM_015204.3(THSD7A):c.2108C>A (p.Pro703His)not specified [RCV004329681]uncertain significance71147447811474478Humanname
401769679CV2731534single nucleotide variantNM_015204.3(THSD7A):c.2741A>G (p.Lys914Arg)not specified [RCV004330882]uncertain significance71144728911447289Humanname
401878750CV2754809single nucleotide variantNM_015204.3(THSD7A):c.1826A>G (p.Glu609Gly)not specified [RCV004341287]uncertain significance71148197911481979Humanname
401893312CV2765099single nucleotide variantNM_015204.3(THSD7A):c.2942T>C (p.Val981Ala)not provided [RCV003491367]|not specified [RCV004337595]uncertain significance71144618311446183Humanname
401892068CV2777206single nucleotide variantNM_015204.3(THSD7A):c.1151G>T (p.Gly384Val)not specified [RCV004354241]uncertain significance71159337411593374Humanname
401882325CV2781659single nucleotide variantNM_015204.3(THSD7A):c.2402G>A (p.Arg801Gln)not specified [RCV004354858]uncertain significance71146211011462110Humanname
401875477CV2789064single nucleotide variantNM_015204.3(THSD7A):c.1658C>G (p.Ser553Cys)not specified [RCV004363362]uncertain significance71154158311541583Humanname
405284369CV3213697single nucleotide variantNM_015204.3(THSD7A):c.1925C>T (p.Thr642Met)THSD7A-related disorder [RCV003922257]likely benign71148188011481880Humanname , trait , alternate_id
405750305CV3335606single nucleotide variantNM_015204.3(THSD7A):c.1636A>G (p.Thr546Ala)not specified [RCV004467024]uncertain significance71154160511541605Humanname
405750312CV3335607single nucleotide variantNM_015204.3(THSD7A):c.1669G>A (p.Gly557Arg)not specified [RCV004467025]uncertain significance71154157211541572Humanname
405750318CV3335608single nucleotide variantNM_015204.3(THSD7A):c.1694C>T (p.Ala565Val)not specified [RCV004467026]uncertain significance71154154711541547Humanname
405750492CV3335609single nucleotide variantNM_015204.3(THSD7A):c.1732G>A (p.Ala578Thr)not specified [RCV004467027]uncertain significance71154150911541509Humanname
405750500CV3335610single nucleotide variantNM_015204.3(THSD7A):c.1924A>C (p.Thr642Pro)not specified [RCV004467028]uncertain significance71148188111481881Humanname
405750507CV3335611single nucleotide variantNM_015204.3(THSD7A):c.1984G>A (p.Ala662Thr)not specified [RCV004467029]uncertain significance71148182111481821Humanname
405750515CV3335612single nucleotide variantNM_015204.3(THSD7A):c.2212A>G (p.Ile738Val)not specified [RCV004467030]uncertain significance71147437411474374Humanname
405750520CV3335613single nucleotide variantNM_015204.3(THSD7A):c.2362A>G (p.Lys788Glu)not specified [RCV004467031]uncertain significance71146988511469885Humanname
405750530CV3335614single nucleotide variantNM_015204.3(THSD7A):c.2456A>G (p.Tyr819Cys)not specified [RCV004467032]uncertain significance71146205611462056Humanname
405750536CV3335615single nucleotide variantNM_015204.3(THSD7A):c.2476G>T (p.Ala826Ser)not specified [RCV004467033]uncertain significance71146203611462036Humanname
405750541CV3335616single nucleotide variantNM_015204.3(THSD7A):c.2570C>T (p.Ala857Val)not specified [RCV004467034]uncertain significance71146069711460697Humanname
405750552CV3335617single nucleotide variantNM_015204.3(THSD7A):c.2678C>T (p.Pro893Leu)not specified [RCV004467035]uncertain significance71144735211447352Humanname
405750558CV3335618single nucleotide variantNM_015204.3(THSD7A):c.2696G>T (p.Cys899Phe)not specified [RCV004467036]uncertain significance71144733411447334Humanname
405750563CV3335619single nucleotide variantNM_015204.3(THSD7A):c.2756A>G (p.Asn919Ser)not specified [RCV004467037]uncertain significance71144727411447274Humanname
407498278CV3479009single nucleotide variantNM_015204.3(THSD7A):c.2435G>A (p.Arg812Gln)not specified [RCV004668621]uncertain significance71146207711462077Humanname
407498299CV3479018single nucleotide variantNM_015204.3(THSD7A):c.2477C>A (p.Ala826Glu)not specified [RCV004668625]uncertain significance71146203511462035Humanname
407520197CV3479021single nucleotide variantNM_015204.3(THSD7A):c.2837A>G (p.His946Arg)not specified [RCV004676874]uncertain significance71144628811446288Humanname
407498312CV3479023single nucleotide variantNM_015204.3(THSD7A):c.1342C>T (p.Arg448Cys)not specified [RCV004668628]uncertain significance71159057111590571Humanname
407498321CV3479025single nucleotide variantNM_015204.3(THSD7A):c.2714A>G (p.Asp905Gly)not specified [RCV004668630]uncertain significance71144731611447316Humanname
597763469CV3613155single nucleotide variantNM_015204.3(THSD7A):c.2622G>C (p.Lys874Asn)not specified [RCV004869867]uncertain significance71144740811447408Humanname
597763474CV3613156single nucleotide variantNM_015204.3(THSD7A):c.2831A>G (p.Asn944Ser)not specified [RCV004869868]uncertain significance71144629411446294Humanname
597763491CV3613161single nucleotide variantNM_015204.3(THSD7A):c.1178G>A (p.Arg393Lys)not specified [RCV004869872]uncertain significance71159334711593347Humanname
597763499CV3613163single nucleotide variantNM_015204.3(THSD7A):c.1441A>G (p.Lys481Glu)not specified [RCV004869874]uncertain significance71159047211590472Humanname
597763510CV3613165single nucleotide variantNM_015204.3(THSD7A):c.1231C>T (p.Pro411Ser)not specified [RCV004869876]uncertain significance71159329411593294Humanname
597763527CV3613170single nucleotide variantNM_015204.3(THSD7A):c.1306C>G (p.Arg436Gly)not specified [RCV004869880]uncertain significance71159060711590607Humanname
597763541CV3613173single nucleotide variantNM_015204.3(THSD7A):c.2808T>G (p.Ser936Arg)not specified [RCV004869883]uncertain significance71144631711446317Humanname
597763554CV3613177single nucleotide variantNM_015204.3(THSD7A):c.2849T>C (p.Leu950Pro)not specified [RCV004869886]uncertain significance71144627611446276Humanname
597763558CV3613178single nucleotide variantNM_015204.3(THSD7A):c.1469A>T (p.Asp490Val)not specified [RCV004869887]uncertain significance71154310211543102Humanname
598185423CV3913651single nucleotide variantNM_015204.3(THSD7A):c.1999G>T (p.Ala667Ser)not specified [RCV005287431]uncertain significance71148180611481806Humanname
598185439CV3913655single nucleotide variantNM_015204.3(THSD7A):c.2032C>G (p.Pro678Ala)not specified [RCV005287434]uncertain significance71147455411474554Humanname
598185451CV3913657single nucleotide variantNM_015204.3(THSD7A):c.1142C>T (p.Ser381Phe)not specified [RCV005287436]uncertain significance71159338311593383Humanname
598185464CV3913659single nucleotide variantNM_015204.3(THSD7A):c.1333G>A (p.Asp445Asn)not specified [RCV005287438]uncertain significance71159058011590580Humanname
598185470CV3913660single nucleotide variantNM_015204.3(THSD7A):c.2449C>T (p.Pro817Ser)not specified [RCV005287439]uncertain significance71146206311462063Humanname
598185481CV3913662single nucleotide variantNM_015204.3(THSD7A):c.2290T>C (p.Cys764Arg)not specified [RCV005287441]uncertain significance71146995711469957Humanname
15176200CV710717single nucleotide variantNM_015204.3(THSD7A):c.1036G>A (p.Glu346Lys)not provided [RCV000973132]likely benign71159348911593489Humanname
155959096CV2193740single nucleotide variantNM_015204.3(THSD7A):c.4672G>A (p.Val1558Met)not specified [RCV004074503]uncertain significance71137919911379199Humanname
156152596CV2194308single nucleotide variantNM_015204.3(THSD7A):c.3504A>G (p.Ile1168Met)not specified [RCV004079424]uncertain significance71141748311417483Humanname
156371465CV2200772single nucleotide variantNM_015204.3(THSD7A):c.4871C>G (p.Ser1624Cys)not specified [RCV004081412]uncertain significance71137658811376588Humanname
156030124CV2206222single nucleotide variantNM_015204.3(THSD7A):c.3343C>T (p.Arg1115Trp)not specified [RCV004080655]uncertain significance71142473611424736Humanname
156132059CV2206506single nucleotide variantNM_015204.3(THSD7A):c.4964C>T (p.Ala1655Val)not specified [RCV004080862]uncertain significance71137580411375804Humanname
156248066CV2215391single nucleotide variantNM_015204.3(THSD7A):c.4067C>T (p.Ala1356Val)not specified [RCV004089197]uncertain significance71140647011406470Humanname
155939700CV2221776single nucleotide variantNM_015204.3(THSD7A):c.3497G>A (p.Cys1166Tyr)not specified [RCV004102814]uncertain significance71141749011417490Humanname
156226799CV2226518single nucleotide variantNM_015204.3(THSD7A):c.4787A>G (p.Gln1596Arg)not specified [RCV004099711]uncertain significance71137908411379084Humanname
156385567CV2227964single nucleotide variantNM_015204.3(THSD7A):c.3398C>T (p.Thr1133Ile)not specified [RCV004096212]uncertain significance71141758911417589Humanname
156273442CV2247667single nucleotide variantNM_015204.3(THSD7A):c.3616A>C (p.Asn1206His)not specified [RCV004115083]uncertain significance71141272211412722Humanname
155992490CV2281215single nucleotide variantNM_015204.3(THSD7A):c.4570C>T (p.Pro1524Ser)not specified [RCV004147464]uncertain significance71137965011379650Humanname
156153445CV2328532single nucleotide variantNM_015204.3(THSD7A):c.3530G>A (p.Cys1177Tyr)not specified [RCV004175902]uncertain significance71141745711417457Humanname
156186494CV2332557single nucleotide variantNM_015204.3(THSD7A):c.3500T>C (p.Val1167Ala)not specified [RCV004196272]uncertain significance71141748711417487Humanname
156288345CV2332832single nucleotide variantNM_015204.3(THSD7A):c.4691T>C (p.Met1564Thr)not specified [RCV004192096]uncertain significance71137918011379180Humanname
156186707CV2346627single nucleotide variantNM_015204.3(THSD7A):c.3635C>G (p.Pro1212Arg)not specified [RCV004199655]uncertain significance71141270311412703Humanname
156277473CV2352051single nucleotide variantNM_015204.3(THSD7A):c.3758G>A (p.Arg1253Gln)not specified [RCV004191146]uncertain significance71141124711411247Humanname
156390866CV2383510single nucleotide variantNM_015204.3(THSD7A):c.3467G>A (p.Arg1156Lys)not specified [RCV004222518]uncertain significance71141752011417520Humanname
156005233CV2393968single nucleotide variantNM_015204.3(THSD7A):c.4362G>C (p.Glu1454Asp)not specified [RCV004236196]uncertain significance71140184411401844Humanname
329378057CV2461058single nucleotide variantNM_015204.3(THSD7A):c.3775G>C (p.Val1259Leu)not specified [RCV004265208]uncertain significance71141123011411230Humanname
329376489CV2472079single nucleotide variantNM_015204.3(THSD7A):c.3890A>C (p.Glu1297Ala)not specified [RCV004283217]uncertain significance71140733211407332Humanname
401781505CV2682020single nucleotide variantNM_015204.3(THSD7A):c.3528A>C (p.Gln1176His)not specified [RCV004290087]uncertain significance71141745911417459Humanname
401736773CV2689425single nucleotide variantNM_015204.3(THSD7A):c.3689G>A (p.Ser1230Asn)not specified [RCV004306233]uncertain significance71141131611411316Humanname
401766672CV2732441single nucleotide variantNM_015204.3(THSD7A):c.3032G>A (p.Arg1011Lys)not specified [RCV004331514]uncertain significance71144609311446093Humanname
401899821CV2758873single nucleotide variantNM_015204.3(THSD7A):c.3910C>T (p.Leu1304Phe)not specified [RCV004339961]uncertain significance71140731211407312Humanname
401887474CV2773334single nucleotide variantNM_015204.3(THSD7A):c.4196A>T (p.Lys1399Ile)not specified [RCV004353991]uncertain significance71140634111406341Humanname
401871586CV2783548single nucleotide variantNM_015204.3(THSD7A):c.4445G>C (p.Ser1482Thr)not specified [RCV004365877]uncertain significance71138258311382583Humanname
405275323CV3204703single nucleotide variantNM_015204.3(THSD7A):c.3941T>C (p.Val1314Ala)THSD7A-related disorder [RCV003952097]likely benign71140703111407031Humanname , trait , alternate_id
405750580CV3335621single nucleotide variantNM_015204.3(THSD7A):c.3019G>A (p.Asp1007Asn)not specified [RCV004467039]uncertain significance71144610611446106Humanname
405750589CV3335622single nucleotide variantNM_015204.3(THSD7A):c.3034C>G (p.Leu1012Val)not specified [RCV004467040]uncertain significance71144609111446091Humanname
405750594CV3335623single nucleotide variantNM_015204.3(THSD7A):c.3173G>A (p.Arg1058His)not specified [RCV004467041]uncertain significance71142901711429017Humanname
405750600CV3335624single nucleotide variantNM_015204.3(THSD7A):c.3279C>G (p.Asp1093Glu)not specified [RCV004467042]uncertain significance71142480011424800Humanname
405750619CV3335626single nucleotide variantNM_015204.3(THSD7A):c.3379G>T (p.Val1127Leu)not specified [RCV004467044]uncertain significance71142470011424700Humanname
405750624CV3335627single nucleotide variantNM_015204.3(THSD7A):c.3443C>A (p.Pro1148Gln)not specified [RCV004467045]uncertain significance71141754411417544Humanname
405750632CV3335628single nucleotide variantNM_015204.3(THSD7A):c.3505T>C (p.Ser1169Pro)not specified [RCV004467046]uncertain significance71141748211417482Humanname
405750640CV3335629single nucleotide variantNM_015204.3(THSD7A):c.3560G>A (p.Arg1187Gln)not specified [RCV004467047]uncertain significance71141277811412778Humanname
405750647CV3335630single nucleotide variantNM_015204.3(THSD7A):c.3661C>A (p.His1221Asn)not specified [RCV004467048]uncertain significance71141267711412677Humanname
405750654CV3335631single nucleotide variantNM_015204.3(THSD7A):c.3943A>G (p.Thr1315Ala)not specified [RCV004467049]uncertain significance71140702911407029Humanname
405750675CV3335634single nucleotide variantNM_015204.3(THSD7A):c.4588G>A (p.Glu1530Lys)not specified [RCV004467052]uncertain significance71137963211379632Humanname
405750688CV3335636single nucleotide variantNM_015204.3(THSD7A):c.4733A>C (p.His1578Pro)not specified [RCV004467054]uncertain significance71137913811379138Humanname
405750694CV3335637single nucleotide variantNM_015204.3(THSD7A):c.4849G>T (p.Val1617Leu)not specified [RCV004467055]uncertain significance71137661011376610Humanname
405750701CV3335638single nucleotide variantNM_015204.3(THSD7A):c.4916G>A (p.Arg1639Lys)not specified [RCV004467056]uncertain significance71137585211375852Humanname
405750708CV3335639single nucleotide variantNM_015204.3(THSD7A):c.4945T>G (p.Leu1649Val)not specified [RCV004467057]uncertain significance71137582311375823Humanname
407520185CV3479012single nucleotide variantNM_015204.3(THSD7A):c.4598C>T (p.Thr1533Ile)not specified [RCV004676870]uncertain significance71137927311379273Humanname
407498281CV3479014single nucleotide variantNM_015204.3(THSD7A):c.4445G>A (p.Ser1482Asn)not specified [RCV004668622]uncertain significance71138258311382583Humanname
407520194CV3479020single nucleotide variantNM_015204.3(THSD7A):c.4814A>C (p.Lys1605Thr)not specified [RCV004676873]uncertain significance71137664511376645Humanname
407498308CV3479022single nucleotide variantNM_015204.3(THSD7A):c.3567G>C (p.Arg1189Ser)not specified [RCV004668627]uncertain significance71141277111412771Humanname
407520200CV3479028single nucleotide variantNM_015204.3(THSD7A):c.4040A>G (p.Gln1347Arg)not specified [RCV004676875]uncertain significance71140693211406932Humanname
408377474CV3507923single nucleotide variantNM_015204.3(THSD7A):c.4070A>G (p.Gln1357Arg)THSD7A-related disorder [RCV004751013]uncertain significance71140646711406467Humanname , trait , alternate_id
597763478CV3613157single nucleotide variantNM_015204.3(THSD7A):c.4071G>C (p.Gln1357His)not specified [RCV004869869]uncertain significance71140646611406466Humanname
597763483CV3613159single nucleotide variantNM_015204.3(THSD7A):c.4280A>T (p.Gln1427Leu)not specified [RCV004869870]uncertain significance71140192611401926Humanname
597763487CV3613160single nucleotide variantNM_015204.3(THSD7A):c.3920A>C (p.Lys1307Thr)not specified [RCV004869871]uncertain significance71140705211407052Humanname
597763495CV3613162single nucleotide variantNM_015204.3(THSD7A):c.4340C>T (p.Pro1447Leu)not specified [RCV004869873]uncertain significance71140186611401866Humanname
597763515CV3613166single nucleotide variantNM_015204.3(THSD7A):c.4765C>T (p.Arg1589Trp)not specified [RCV004869877]uncertain significance71137910611379106Humanname
597795107CV3613169single nucleotide variantNM_015204.3(THSD7A):c.3700C>A (p.Leu1234Met)not specified [RCV004878078]uncertain significance71141130511411305Humanname
597763531CV3613171single nucleotide variantNM_015204.3(THSD7A):c.3112C>A (p.Leu1038Ile)not specified [RCV004869881]uncertain significance71142907811429078Humanname
597795111CV3613179single nucleotide variantNM_015204.3(THSD7A):c.3155G>T (p.Gly1052Val)not specified [RCV004878079]uncertain significance71142903511429035Humanname
597763563CV3613180single nucleotide variantNM_015204.3(THSD7A):c.3935G>A (p.Arg1312Gln)not specified [RCV004869888]uncertain significance71140703711407037Humanname
597763581CV3613184single nucleotide variantNM_015204.3(THSD7A):c.3434T>C (p.Leu1145Pro)not specified [RCV004869892]uncertain significance71141755311417553Humanname
597763594CV3613188single nucleotide variantNM_015204.3(THSD7A):c.4587C>A (p.Ser1529Arg)not specified [RCV004869895]uncertain significance71137963311379633Humanname
598185428CV3913652single nucleotide variantNM_015204.3(THSD7A):c.3140G>T (p.Cys1047Phe)not specified [RCV005287432]uncertain significance71142905011429050Humanname
598185433CV3913653single nucleotide variantNM_015204.3(THSD7A):c.4828G>A (p.Gly1610Ser)not specified [RCV005287433]uncertain significance71137663111376631Humanname
598176262CV3913654single nucleotide variantNM_015204.3(THSD7A):c.3332T>C (p.Phe1111Ser)not specified [RCV005285608]uncertain significance71142474711424747Humanname
598185458CV3913658single nucleotide variantNM_015204.3(THSD7A):c.4762G>A (p.Gly1588Arg)not specified [RCV005287437]uncertain significance71137910911379109Humanname
598185489CV3913664single nucleotide variantNM_015204.3(THSD7A):c.3601G>A (p.Gly1201Arg)not specified [RCV005287442]uncertain significance71141273711412737Humanname
598185502CV3913666single nucleotide variantNM_015204.3(THSD7A):c.4184T>C (p.Ile1395Thr)not specified [RCV005287444]uncertain significance71140635311406353Humanname
15197440CV699761single nucleotide variantNM_015204.3(THSD7A):c.4598C>A (p.Thr1533Lys)not provided [RCV000956465]|not specified [RCV005286259]likely benign|uncertain significance71137927311379273Humanname
15123218CV710716single nucleotide variantNM_015204.3(THSD7A):c.4025G>A (p.Arg1342Gln)not provided [RCV000963201]benign71140694711406947Humanname
15120514CV735895single nucleotide variantNM_015204.3(THSD7A):c.4134T>A (p.Asp1378Glu)not provided [RCV000895907]likely benign71140640311406403Humanname
405292322CV3196203microsatelliteNM_015204.3(THSD7A):c.80CGCTGC[2] (p.27PL[2])THSD7A-related disorder [RCV003964488]likely benign71183184411831855Humanname , trait , alternate_id
15166127CV699776microsatelliteNM_015204.3(THSD7A):c.80CGCTGC[5] (p.27PL[5])not provided [RCV000948759]benign71183184311831844Humanname
401934696CV2802733duplicationNM_015204.3(THSD7A):c.4775_4779dup (p.Phe1594fs)THSD7A-related disorder [RCV003412122]uncertain significance71137909111379092Humanname , trait , alternate_id
598129405CV3888702microsatelliteNM_015204.3(THSD7A):c.83TGC[3] (p.Leu28_Pro29insLeuLeu)not provided [RCV005244876]uncertain significance71183186111831862Humanname
15167359CV722258duplicationNM_015204.3(THSD7A):c.2564_2566dup (p.Pro855_Gly856insAla)not provided [RCV000882831]likely benign71146070011460701Humanname