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


95 records found for search term Clstn1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15195703CV758954single nucleotide variantNM_001009566.3(CLSTN1):c.2427+9A>Gnot provided [RCV000911490]likely benign197333929733392Humanname
407463266CV3429324single nucleotide variantNM_001009566.3(CLSTN1):c.19C>T (p.Pro7Ser)not specified [RCV004613178]uncertain significance198237159823715Humanname
401907534CV2805670single nucleotide variantNM_001009566.3(CLSTN1):c.681C>T (p.Tyr227=)not provided [RCV003422535]likely benign197498829749882Humanname
597792188CV3656938single nucleotide variantNM_001009566.3(CLSTN1):c.32C>G (p.Pro11Arg)not specified [RCV004902546]uncertain significance198237029823702Humanname
15126384CV707612single nucleotide variantNM_001009566.3(CLSTN1):c.828G>A (p.Pro276=)not provided [RCV000963735]benign197496189749618Humanname
15113428CV719151single nucleotide variantNM_001009566.3(CLSTN1):c.885A>G (p.Pro295=)not provided [RCV000894664]benign197495619749561Humanname
8629737CV84884single nucleotide variantNM_001009566.2(CLSTN1):c.861C>T (p.Ile287=)Malignant melanoma [RCV000064966]not provided197495859749585Humanname
155973123CV2238915single nucleotide variantNM_001009566.3(CLSTN1):c.157G>T (p.Val53Leu)not specified [RCV004109819]uncertain significance197733299773329Humanname
401728147CV2675978single nucleotide variantNM_001009566.3(CLSTN1):c.218G>A (p.Ser73Asn)not specified [RCV004281970]uncertain significance197565079756507Humanname
401907293CV2805669single nucleotide variantNM_001009566.3(CLSTN1):c.1137G>A (p.Ser379=)not provided [RCV003422534]likely benign197444929744492Humanname
405783413CV3305841single nucleotide variantNM_001009566.3(CLSTN1):c.148G>A (p.Asp50Asn)not specified [RCV004437353]uncertain significance197733389773338Humanname
405783423CV3305843single nucleotide variantNM_001009566.3(CLSTN1):c.173C>A (p.Pro58Gln)not specified [RCV004437355]uncertain significance197733139773313Humanname
407463256CV3429321single nucleotide variantNM_001009566.3(CLSTN1):c.296T>A (p.Val99Glu)not specified [RCV004613175]uncertain significance197552589755258Humanname
597792191CV3656939single nucleotide variantNM_001009566.3(CLSTN1):c.190A>G (p.Lys64Glu)not specified [RCV004902547]uncertain significance197732969773296Humanname
597792193CV3656940single nucleotide variantNM_001009566.3(CLSTN1):c.197C>T (p.Ala66Val)not specified [RCV004902548]uncertain significance197732899773289Humanname
598245154CV3944858single nucleotide variantNM_001009566.3(CLSTN1):c.178A>G (p.Ile60Val)not specified [RCV005322144]uncertain significance197733089773308Humanname
15180113CV707613single nucleotide variantNM_001009566.3(CLSTN1):c.209T>A (p.Phe70Tyr)not provided [RCV000974072]benign197732779773277Humanname
156318082CV2200245single nucleotide variantNM_001009566.3(CLSTN1):c.880G>A (p.Glu294Lys)not specified [RCV004076587]uncertain significance197495669749566Humanname
155965892CV2206619single nucleotide variantNM_001009566.3(CLSTN1):c.653A>T (p.Tyr218Phe)not specified [RCV004080960]uncertain significance197499109749910Humanname
156029715CV2238337single nucleotide variantNM_001009566.3(CLSTN1):c.943G>A (p.Asp315Asn)not specified [RCV004113411]uncertain significance197495039749503Humanname
155968825CV2244350single nucleotide variantNM_001009566.3(CLSTN1):c.665C>A (p.Thr222Lys)not specified [RCV004100334]uncertain significance197498989749898Humanname
156161548CV2371488single nucleotide variantNM_001009566.3(CLSTN1):c.322G>A (p.Gly108Arg)not specified [RCV004216741]uncertain significance197552329755232Humanname
156035463CV2376767single nucleotide variantNM_001009566.3(CLSTN1):c.338A>G (p.Lys113Arg)not specified [RCV004227046]uncertain significance197552169755216Humanname
329374586CV2430950single nucleotide variantNM_001009566.3(CLSTN1):c.719A>G (p.Tyr240Cys)not specified [RCV004248545]uncertain significance197498449749844Humanname
329371271CV2431941single nucleotide variantNM_001009566.3(CLSTN1):c.536A>G (p.Tyr179Cys)not specified [RCV004249098]uncertain significance197515869751586Humanname
405783458CV3305849single nucleotide variantNM_001009566.3(CLSTN1):c.458A>G (p.Gln153Arg)not specified [RCV004437361]uncertain significance197516649751664Humanname
405662204CV3305850single nucleotide variantNM_001009566.3(CLSTN1):c.601A>G (p.Ser201Gly)not specified [RCV004439428]uncertain significance197515219751521Humanname
405662210CV3305852single nucleotide variantNM_001009566.3(CLSTN1):c.900G>C (p.Gln300His)not specified [RCV004439430]uncertain significance197495469749546Humanname
405662213CV3305853single nucleotide variantNM_001009566.3(CLSTN1):c.908T>C (p.Val303Ala)not specified [RCV004439431]uncertain significance197495389749538Humanname
407463288CV3429329single nucleotide variantNM_001009566.3(CLSTN1):c.594G>C (p.Gln198His)not specified [RCV004613183]uncertain significance197515289751528Humanname
597792177CV3656935single nucleotide variantNM_001009566.3(CLSTN1):c.815T>C (p.Ile272Thr)not specified [RCV004902543]uncertain significance197496319749631Humanname
597792200CV3656942single nucleotide variantNM_001009566.3(CLSTN1):c.665C>G (p.Thr222Arg)not specified [RCV004902550]uncertain significance197498989749898Humanname
597792205CV3656944single nucleotide variantNM_001009566.3(CLSTN1):c.698A>G (p.Tyr233Cys)not specified [RCV004902552]uncertain significance197498659749865Humanname
598245111CV3944851single nucleotide variantNM_001009566.3(CLSTN1):c.641A>C (p.Asp214Ala)not specified [RCV005322138]uncertain significance197514819751481Humanname
598245126CV3944853single nucleotide variantNM_001009566.3(CLSTN1):c.517G>T (p.Val173Phe)not specified [RCV005322140]uncertain significance197516059751605Humanname
598245132CV3944854single nucleotide variantNM_001009566.3(CLSTN1):c.544A>G (p.Ile182Val)not specified [RCV005322141]uncertain significance197515789751578Humanname
15135303CV732679single nucleotide variantNM_001009566.3(CLSTN1):c.325G>A (p.Val109Ile)not provided [RCV000898434]likely benign197552299755229Humanname
156079993CV2198430single nucleotide variantNM_001009566.3(CLSTN1):c.2140G>A (p.Val714Met)not specified [RCV004081960]uncertain significance197341139734113Humanname
156366788CV2269763single nucleotide variantNM_001009566.3(CLSTN1):c.1022C>T (p.Pro341Leu)not specified [RCV004127010]uncertain significance197446079744607Humanname
155986256CV2282526single nucleotide variantNM_001009566.3(CLSTN1):c.2293A>G (p.Met765Val)not specified [RCV004135103]uncertain significance197335359733535Humanname
156327385CV2332097single nucleotide variantNM_001009566.3(CLSTN1):c.2672G>A (p.Arg891Gln)not specified [RCV004189139]uncertain significance197312829731282Humanname
156069636CV2355860single nucleotide variantNM_001009566.3(CLSTN1):c.2131G>A (p.Glu711Lys)not specified [RCV004201254]uncertain significance197341229734122Humanname
156192263CV2356953single nucleotide variantNM_001009566.3(CLSTN1):c.2657A>G (p.His886Arg)not specified [RCV004204323]uncertain significance197312979731297Humanname
156135947CV2357074single nucleotide variantNM_001009566.3(CLSTN1):c.2444C>T (p.Thr815Met)not specified [RCV004206874]uncertain significance197318809731880Humanname
155931665CV2362609single nucleotide variantNM_001009566.3(CLSTN1):c.2066C>T (p.Thr689Met)not specified [RCV004215262]uncertain significance197349929734992Humanname
156385835CV2364581single nucleotide variantNM_001009566.3(CLSTN1):c.1648G>T (p.Ala550Ser)not specified [RCV004217433]uncertain significance197359719735971Humanname
155929316CV2369709single nucleotide variantNM_001009566.3(CLSTN1):c.1210A>G (p.Ile404Val)not specified [RCV004215108]uncertain significance197444199744419Humanname
156166151CV2373564single nucleotide variantNM_001009566.3(CLSTN1):c.2852A>G (p.Glu951Gly)not specified [RCV004222664]uncertain significance197306029730602Humanname
156388442CV2380420single nucleotide variantNM_001009566.3(CLSTN1):c.1294C>T (p.Arg432Cys)not specified [RCV004218023]uncertain significance197439469743946Humanname
329376106CV2431731single nucleotide variantNM_001009566.3(CLSTN1):c.1484T>C (p.Ile495Thr)not specified [RCV004248893]uncertain significance197411299741129Humanname
329355512CV2445514single nucleotide variantNM_001009566.3(CLSTN1):c.1627A>G (p.Thr543Ala)not specified [RCV004257569]uncertain significance197359929735992Humanname
329393781CV2472118single nucleotide variantNM_001009566.3(CLSTN1):c.2732C>G (p.Thr911Ser)not specified [RCV004283253]uncertain significance197312229731222Humanname
401780567CV2674083single nucleotide variantNM_001009566.3(CLSTN1):c.1613A>G (p.Asn538Ser)not specified [RCV004295489]uncertain significance197360069736006Humanname
401741103CV2680547single nucleotide variantNM_001009566.3(CLSTN1):c.1973G>A (p.Ser658Asn)not specified [RCV004291181]uncertain significance197350859735085Humanname
401756317CV2687087single nucleotide variantNM_001009566.3(CLSTN1):c.1910C>T (p.Ser637Leu)not specified [RCV004304403]uncertain significance197351489735148Humanname
401774619CV2691800single nucleotide variantNM_001009566.3(CLSTN1):c.1795G>C (p.Asp599His)not specified [RCV004299251]uncertain significance197355559735555Humanname
401758781CV2694275single nucleotide variantNM_001009566.3(CLSTN1):c.2686G>A (p.Gly896Arg)not specified [RCV004304475]uncertain significance197312689731268Humanname
401759009CV2694386single nucleotide variantNM_001009566.3(CLSTN1):c.2371A>C (p.Lys791Gln)not specified [RCV004304573]uncertain significance197334579733457Humanname
401720919CV2702192single nucleotide variantNM_001009566.3(CLSTN1):c.1775G>T (p.Gly592Val)not specified [RCV004314540]uncertain significance197355759735575Humanname
401765854CV2717894single nucleotide variantNM_001009566.3(CLSTN1):c.1276C>T (p.Arg426Trp)not specified [RCV004321861]uncertain significance197439649743964Humanname
401774124CV2727740single nucleotide variantNM_001009566.3(CLSTN1):c.1239G>C (p.Met413Ile)not specified [RCV004323774]uncertain significance197440019744001Humanname
401876879CV2767748single nucleotide variantNM_001009566.3(CLSTN1):c.1633C>T (p.Arg545Cys)not specified [RCV004345876]uncertain significance197359869735986Humanname
401887482CV2771963single nucleotide variantNM_001009566.3(CLSTN1):c.2815G>A (p.Gly939Ser)not specified [RCV004344654]uncertain significance197306399730639Humanname
401890608CV2778251single nucleotide variantNM_001009566.3(CLSTN1):c.2350T>A (p.Ser784Thr)not specified [RCV004350313]uncertain significance197334789733478Humanname
401890610CV2778252single nucleotide variantNM_001009566.3(CLSTN1):c.2351C>A (p.Ser784Tyr)not specified [RCV004350314]uncertain significance197334779733477Humanname
401869600CV2782421single nucleotide variantNM_001009566.3(CLSTN1):c.1919C>G (p.Pro640Arg)not specified [RCV004365154]uncertain significance197351399735139Humanname
401885635CV2783263single nucleotide variantNM_001009566.3(CLSTN1):c.1038C>G (p.Asn346Lys)not specified [RCV004363876]uncertain significance197445919744591Humanname
401907292CV2805668single nucleotide variantNM_001009566.3(CLSTN1):c.2853G>C (p.Glu951Asp)not provided [RCV003422533]likely benign197306019730601Humanname
405783402CV3305839single nucleotide variantNM_001009566.3(CLSTN1):c.1304C>T (p.Pro435Leu)not specified [RCV004437351]uncertain significance197439369743936Humanname
405783407CV3305840single nucleotide variantNM_001009566.3(CLSTN1):c.1448C>T (p.Ser483Phe)not specified [RCV004437352]uncertain significance197411659741165Humanname
405783417CV3305842single nucleotide variantNM_001009566.3(CLSTN1):c.1666G>A (p.Asp556Asn)not specified [RCV004437354]uncertain significance197359539735953Humanname
405783429CV3305844single nucleotide variantNM_001009566.3(CLSTN1):c.2233C>G (p.Gln745Glu)not specified [RCV004437356]uncertain significance197340209734020Humanname
405783432CV3305845single nucleotide variantNM_001009566.3(CLSTN1):c.2303A>G (p.Tyr768Cys)not specified [RCV004437357]uncertain significance197335259733525Humanname
405783446CV3305847single nucleotide variantNM_001009566.3(CLSTN1):c.2546A>G (p.Asn849Ser)not specified [RCV004437359]likely benign197317789731778Humanname
405783452CV3305848single nucleotide variantNM_001009566.3(CLSTN1):c.2933C>T (p.Thr978Ile)not specified [RCV004437360]uncertain significance197305219730521Humanname
407463260CV3429322single nucleotide variantNM_001009566.3(CLSTN1):c.1154C>T (p.Pro385Leu)not specified [RCV004613176]uncertain significance197444759744475Humanname
407463263CV3429323single nucleotide variantNM_001009566.3(CLSTN1):c.1000A>G (p.Thr334Ala)not specified [RCV004613177]uncertain significance197446299744629Humanname
407463275CV3429326single nucleotide variantNM_001009566.3(CLSTN1):c.1192G>A (p.Gly398Ser)not specified [RCV004613180]uncertain significance197444379744437Humanname
407463279CV3429327single nucleotide variantNM_001009566.3(CLSTN1):c.1591A>G (p.Met531Val)not specified [RCV004613181]uncertain significance197360289736028Humanname
407463284CV3429328single nucleotide variantNM_001009566.3(CLSTN1):c.1203G>C (p.Lys401Asn)not specified [RCV004613182]uncertain significance197444269744426Humanname
597792174CV3656934single nucleotide variantNM_001009566.3(CLSTN1):c.1634G>A (p.Arg545His)not specified [RCV004902542]uncertain significance197359859735985Humanname
597792180CV3656936single nucleotide variantNM_001009566.3(CLSTN1):c.2225G>A (p.Arg742His)not specified [RCV004902544]uncertain significance197340289734028Humanname
597792185CV3656937single nucleotide variantNM_001009566.3(CLSTN1):c.2906A>G (p.Gln969Arg)not specified [RCV004902545]uncertain significance197305489730548Humanname
597792197CV3656941single nucleotide variantNM_001009566.3(CLSTN1):c.1955A>G (p.Glu652Gly)not specified [RCV004902549]uncertain significance197351039735103Humanname
597792203CV3656943single nucleotide variantNM_001009566.3(CLSTN1):c.1379A>G (p.His460Arg)not specified [RCV004902551]uncertain significance197412349741234Humanname
597792209CV3656945single nucleotide variantNM_001009566.3(CLSTN1):c.1729G>A (p.Val577Met)not specified [RCV004902553]uncertain significance197358909735890Humanname
598245101CV3944849single nucleotide variantNM_001009566.3(CLSTN1):c.2762A>T (p.Gln921Leu)not specified [RCV005322136]uncertain significance197306929730692Humanname
598245107CV3944850single nucleotide variantNM_001009566.3(CLSTN1):c.2896G>A (p.Ala966Thr)not specified [RCV005322137]uncertain significance197305589730558Humanname
598245140CV3944855single nucleotide variantNM_001009566.3(CLSTN1):c.2602G>T (p.Val868Phe)not specified [RCV005322142]uncertain significance197313529731352Humanname
598245147CV3944856single nucleotide variantNM_001009566.3(CLSTN1):c.1639G>A (p.Gly547Arg)not specified [RCV005322143]uncertain significance197359809735980Humanname
598264632CV3944857single nucleotide variantNM_001009566.3(CLSTN1):c.2170G>T (p.Val724Leu)not specified [RCV005326172]uncertain significance197340839734083Humanname
598245161CV3944859single nucleotide variantNM_001009566.3(CLSTN1):c.2284G>A (p.Val762Met)not specified [RCV005322145]uncertain significance197335449733544Humanname
15160044CV746703single nucleotide variantNM_001009566.3(CLSTN1):c.1438G>A (p.Glu480Lys)not provided [RCV000925404]likely benign197411759741175Humanname
8625076CV80195single nucleotide variantNM_001009566.2(CLSTN1):c.1031C>T (p.Ser344Phe)Malignant melanoma [RCV000060271]not provided197445989744598Humanname
8629736CV84883single nucleotide variantNM_001009566.2(CLSTN1):c.1136C>T (p.Ser379Leu)Malignant melanoma [RCV000064965]not provided197444939744493Humanname