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


221 records found for search term Trpm7
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
597710676CV3703950single nucleotide variantNM_017672.6(TRPM7):c.3+2T>AAmyotrophic lateral sclerosis-parkinsonism-dementia complex [RCV005009721]uncertain significance155068652950686529Human1name
150456905CV985811single nucleotide variantNM_017672.6(TRPM7):c.3+1G>CIntestinal hypomagnesemia 1 [RCV001594413]pathogenic155068653050686530Human1name
150461885CV1272938single nucleotide variantNM_017672.6(TRPM7):c.*304T>Cnot provided [RCV001693694]benign155056137450561374Humanname
616935053CV4009268single nucleotide variantNM_017672.6(TRPM7):c.84-2A>Gnot provided [RCV005402440]uncertain significance155065782150657821Humanname
150547437CV1292027single nucleotide variantNM_017672.6(TRPM7):c.536-4A>Gnot provided [RCV004704646]|not specified [RCV001733693]benign|likely benign155063955250639552Humanname
8566411CV32866complexCYP19A1, CYP19A1/TRPM7 FUSIONAromatase excess syndrome [RCV000019405]pathogenic|likely pathogenicHumanname
150501699CV1224257single nucleotide variantNM_017672.6(TRPM7):c.83+217A>Gnot provided [RCV001620898]benign155066275050662750Humanname
150493396CV1257545single nucleotide variantNM_017672.6(TRPM7):c.123-26G>Cnot provided [RCV001675218]benign155064891150648911Humanname
401740027CV2738662single nucleotide variantNM_017672.6(TRPM7):c.4324+5G>Anot provided [RCV003318056]uncertain significance155059190650591906Humanname
401904290CV2817572single nucleotide variantNM_017672.6(TRPM7):c.5309-5T>CTRPM7-related disorder [RCV003984366]|not provided [RCV003394839]benign|likely benign155057016050570160Human1name , trait , alternate_id
401904291CV2817574single nucleotide variantNM_017672.6(TRPM7):c.660+21T>Gnot provided [RCV003394840]benign155063940350639403Humanname
405265399CV3185625single nucleotide variantNM_017672.6(TRPM7):c.5360+4A>Gnot provided [RCV003886189]benign155057010050570100Humanname
405289644CV3205241single nucleotide variantNM_017672.6(TRPM7):c.1635+4T>CTRPM7-related disorder [RCV003961823]benign155061411950614119Humanname , trait , alternate_id
598125671CV3885667single nucleotide variantNM_017672.6(TRPM7):c.5361-4A>Gnot specified [RCV005241180]uncertain significance155056999750569997Humanname
15161189CV778161deletionNM_017672.6(TRPM7):c.2437-9delnot provided [RCV000947627]benign155060973350609733Humanname
15200250CV778252single nucleotide variantNM_017672.6(TRPM7):c.1131+3A>GAmyotrophic lateral sclerosis-parkinsonism-dementia complex [RCV002489330]|TRPM7-related disorder [RCV003926058]|not provided [RCV000957276]benign155063286650632866Human1name , trait , alternate_id
150488892CV1250453single nucleotide variantNM_017672.6(TRPM7):c.3164-41T>Anot provided [RCV001674414]benign155059642250596422Humanname
150506144CV1254796single nucleotide variantNM_017672.6(TRPM7):c.660+191T>Anot provided [RCV001678102]benign155063923350639233Humanname
150500854CV1256179single nucleotide variantNM_017672.6(TRPM7):c.660+198C>Anot provided [RCV001676803]benign155063922650639226Humanname
150476392CV1279245single nucleotide variantNM_017672.6(TRPM7):c.535+230C>Tnot provided [RCV001713976]benign155064311050643110Humanname
150482233CV1279937single nucleotide variantNM_017672.6(TRPM7):c.3476-30C>Anot provided [RCV001714990]benign155059377950593779Humanname
150515778CV1285655single nucleotide variantNM_017672.6(TRPM7):c.1131+71C>Tnot provided [RCV001723108]benign155063279850632798Humanname
401739322CV2738533single nucleotide variantNM_017672.6(TRPM7):c.4557+18A>Gnot specified [RCV003317925]uncertain significance155058307150583071Humanname
408382043CV3525580single nucleotide variantNM_017672.6(TRPM7):c.1636-13A>Gnot specified [RCV004766489]likely benign155061385450613854Humanname
598122493CV3884428single nucleotide variantNM_017672.6(TRPM7):c.3609-11C>Tnot specified [RCV005237120]likely benign155059263750592637Humanname
150339552CV1167632single nucleotide variantNM_017672.6(TRPM7):c.1441-297T>Cnot provided [RCV001534317]benign155062009550620095Humanname
150511611CV1212790single nucleotide variantNM_017672.6(TRPM7):c.3290+277A>Tnot provided [RCV001598022]benign155059597850595978Humanname
150454024CV1219916single nucleotide variantNM_017672.6(TRPM7):c.1441-310A>Gnot provided [RCV001612297]benign155062010850620108Humanname
150496208CV1225269single nucleotide variantNM_017672.6(TRPM7):c.3291-162T>Gnot provided [RCV001619747]benign155059477550594775Humanname
150456492CV1235215single nucleotide variantNM_017672.6(TRPM7):c.1770+124C>Tnot provided [RCV001648631]benign155061358350613583Humanname
150496612CV1236867single nucleotide variantNM_017672.6(TRPM7):c.1007+246G>Cnot provided [RCV001655931]benign155063413650634136Humanname
150464705CV1241358single nucleotide variantNM_017672.6(TRPM7):c.4486+111C>Tnot provided [RCV001649869]benign155058628150586281Humanname
150507082CV1242371single nucleotide variantNM_017672.6(TRPM7):c.1440+265T>Cnot provided [RCV001658726]benign155062390150623901Humanname
150473991CV1272262single nucleotide variantNM_017672.6(TRPM7):c.1205-170G>Anot provided [RCV001695800]benign155062841950628419Humanname
150473795CV1281601single nucleotide variantNM_017672.6(TRPM7):c.3476-253C>Gnot provided [RCV001713588]benign155059400250594002Humanname
150442866CV1287795single nucleotide variantNM_017672.6(TRPM7):c.3475+133G>Anot provided [RCV001725516]benign155059429650594296Humanname
405264807CV3190035duplicationNM_017672.6(TRPM7):c.84-3_84-2dupTRPM7-related disorder [RCV003897074]likely benign155065782050657821Humanname , trait , alternate_id
150481669CV1258959microsatelliteNM_017672.6(TRPM7):c.1007+32ATTT[5]not provided [RCV001686089]benign155063432750634330Humanname
407488108CV3488894single nucleotide variantNM_017672.6(TRPM7):c.11A>G (p.Lys4Arg)not specified [RCV004680162]uncertain significance155066303950663039Humanname
597680779CV3622127single nucleotide variantNM_017672.6(TRPM7):c.35C>T (p.Thr12Ile)not specified [RCV004883567]uncertain significance155066301550663015Humanname
598127357CV3888153single nucleotide variantNM_017672.6(TRPM7):c.685T>C (p.Leu229=)not provided [RCV005242839]likely benign155063756950637569Humanname
155942468CV2301184single nucleotide variantNM_017672.6(TRPM7):c.250A>G (p.Thr84Ala)not specified [RCV004160092]uncertain significance155064875850648758Humanname
329391706CV2453054single nucleotide variantNM_017672.6(TRPM7):c.184T>C (p.Tyr62His)not specified [RCV004277665]uncertain significance155064882450648824Humanname
401754219CV2685200single nucleotide variantNM_017672.6(TRPM7):c.221C>T (p.Ala74Val)not specified [RCV004289758]uncertain significance155064878750648787Humanname
401768239CV2735228single nucleotide variantNM_017672.6(TRPM7):c.220G>A (p.Ala74Thr)not specified [RCV004333908]likely benign155064878850648788Humanname
401768242CV2735229single nucleotide variantNM_017672.6(TRPM7):c.223A>T (p.Ile75Leu)not specified [RCV004333909]likely benign155064878550648785Humanname
401904292CV2817575single nucleotide variantNM_017672.6(TRPM7):c.223A>G (p.Ile75Val)not provided [RCV003394841]benign155064878550648785Humanname
405762002CV3344422single nucleotide variantNM_017672.6(TRPM7):c.136C>T (p.Arg46Cys)not specified [RCV004468787]uncertain significance155064887250648872Humanname
15101697CV703244single nucleotide variantNM_017672.6(TRPM7):c.2937T>C (p.Phe979=)TRPM7-related disorder [RCV003905796]|not provided [RCV000959143]benign|likely benign155060491750604917Human1name , trait , alternate_id
15142163CV714481single nucleotide variantNM_017672.6(TRPM7):c.1485C>T (p.Asp495=)TRPM7-related disorder [RCV003962827]|not provided [RCV000966435]benign|likely benign155061975450619754Human1name , trait , alternate_id
150482645CV1247487single nucleotide variantNM_017672.6(TRPM7):c.4986C>T (p.Tyr1662=)not provided [RCV001673313]benign155057488550574885Humanname
150479867CV1273541single nucleotide variantNM_017672.6(TRPM7):c.3174T>C (p.Asn1058=)TRPM7-related disorder [RCV003976024]|not provided [RCV001696745]benign155059637150596371Human1name , trait , alternate_id
156264679CV2282680single nucleotide variantNM_017672.6(TRPM7):c.604A>G (p.Ile202Val)not specified [RCV004135227]uncertain significance155063948050639480Humanname
155905018CV2349660single nucleotide variantNM_017672.6(TRPM7):c.590G>A (p.Arg197Gln)not specified [RCV003317656]uncertain significance155063949450639494Humanname
329350642CV2421760single nucleotide variantNM_017672.6(TRPM7):c.415G>C (p.Val139Leu)not provided [RCV003159463]uncertain significance155064346050643460Humanname
329393649CV2472039single nucleotide variantNM_017672.6(TRPM7):c.349C>T (p.Pro117Ser)not specified [RCV004283185]uncertain significance155064352650643526Humanname
401770948CV2700776single nucleotide variantNM_017672.6(TRPM7):c.862C>G (p.Leu288Val)not specified [RCV004307061]uncertain significance155063452750634527Humanname
401899064CV2785995single nucleotide variantNM_017672.6(TRPM7):c.662T>G (p.Val221Gly)not specified [RCV004359832]uncertain significance155063759250637592Humanname
405272451CV3199334single nucleotide variantNM_017672.6(TRPM7):c.3846T>G (p.Gly1282=)TRPM7-related disorder [RCV003914284]benign155059238950592389Humanname , trait , alternate_id
405279457CV3206966single nucleotide variantNM_017672.6(TRPM7):c.5268C>T (p.Tyr1756=)TRPM7-related disorder [RCV003919521]benign155057431450574314Humanname , trait , alternate_id
405283097CV3216988single nucleotide variantNM_017672.6(TRPM7):c.4926G>A (p.Gly1642=)TRPM7-related disorder [RCV003979136]benign155057494550574945Humanname , trait , alternate_id
405762102CV3344440single nucleotide variantNM_017672.6(TRPM7):c.904G>A (p.Glu302Lys)not specified [RCV004468805]uncertain significance155063448550634485Humanname
405762108CV3344441single nucleotide variantNM_017672.6(TRPM7):c.921C>G (p.Ser307Arg)not specified [RCV004468806]uncertain significance155063446850634468Humanname
407527837CV3488900single nucleotide variantNM_017672.6(TRPM7):c.940G>T (p.Val314Leu)not specified [RCV004680168]uncertain significance155063444950634449Humanname
408388646CV3522751single nucleotide variantNM_017672.6(TRPM7):c.376A>G (p.Lys126Glu)not provided [RCV004769132]uncertain significance155064349950643499Humanname
596929141CV3530974single nucleotide variantNM_017672.6(TRPM7):c.875G>T (p.Gly292Val)not provided [RCV004779548]uncertain significance155063451450634514Humanname
597680661CV3622110single nucleotide variantNM_017672.6(TRPM7):c.806C>G (p.Thr269Ser)not specified [RCV004883550]uncertain significance155063744850637448Humanname
597680676CV3622112single nucleotide variantNM_017672.6(TRPM7):c.616C>T (p.Pro206Ser)not specified [RCV004883552]uncertain significance155063946850639468Humanname
597680690CV3622114single nucleotide variantNM_017672.6(TRPM7):c.680C>G (p.Thr227Ser)not specified [RCV004883554]uncertain significance155063757450637574Humanname
597680698CV3622115single nucleotide variantNM_017672.6(TRPM7):c.358A>G (p.Ile120Val)not specified [RCV004883555]uncertain significance155064351750643517Humanname
597680764CV3622125single nucleotide variantNM_017672.6(TRPM7):c.719A>G (p.Asn240Ser)not specified [RCV004883565]uncertain significance155063753550637535Humanname
597845017CV3880301single nucleotide variantNM_017672.6(TRPM7):c.910C>T (p.Leu304Phe)not provided [RCV005227189]uncertain significance155063447950634479Humanname
598125822CV3885671single nucleotide variantNM_017672.6(TRPM7):c.3774C>T (p.Ser1258=)not specified [RCV005241184]likely benign155059246150592461Humanname
598123233CV3890255single nucleotide variantNM_017672.6(TRPM7):c.299G>T (p.Gly100Val)not provided [RCV005250774]uncertain significance155064870950648709Humanname
598200926CV3892722single nucleotide variantNM_017672.6(TRPM7):c.410T>C (p.Ile137Thr)not provided [RCV005254555]uncertain significance155064346550643465Humanname
598236952CV3932231single nucleotide variantNM_017672.6(TRPM7):c.856G>A (p.Val286Met)not specified [RCV005296145]uncertain significance155063453350634533Humanname
15168655CV739673single nucleotide variantNM_017672.6(TRPM7):c.4941C>A (p.Ile1647=)not provided [RCV000904901]likely benign155057493050574930Humanname
15193048CV770219single nucleotide variantNM_017672.6(TRPM7):c.5124G>A (p.Leu1708=)not provided [RCV000933257]likely benign155057445850574458Humanname
8635494CV90715single nucleotide variantNM_017672.5(TRPM7):c.335C>T (p.Ser112Leu)Malignant melanoma [RCV000070813]not provided155064354050643540Humanname
126746787CV1017928single nucleotide variantNM_017672.6(TRPM7):c.2141A>C (p.Lys714Thr)Amyotrophic lateral sclerosis-parkinsonism-dementia complex [RCV001330971]uncertain significance155061123250611232Human1name
126913343CV1038333single nucleotide variantNM_017672.6(TRPM7):c.2924G>A (p.Arg975His)not provided [RCV001357287]uncertain significance155060493050604930Humanname
126912582CV1038334single nucleotide variantNM_017672.6(TRPM7):c.2659T>A (p.Trp887Arg)not provided [RCV001356633]uncertain significance155060725050607250Humanname
152041886CV1669929single nucleotide variantNM_017672.6(TRPM7):c.1849C>T (p.Arg617Cys)not provided [RCV002224831]uncertain significance155061275150612751Humanname
153348066CV1695115single nucleotide variantNM_017672.6(TRPM7):c.1400A>C (p.Lys467Thr)not provided [RCV002279046]uncertain significance155062420650624206Humanname
156020193CV2230266single nucleotide variantNM_017672.6(TRPM7):c.1646G>A (p.Arg549Gln)not specified [RCV004099882]uncertain significance155061383150613831Humanname
156127892CV2283834single nucleotide variantNM_017672.6(TRPM7):c.1219G>A (p.Ala407Thr)not specified [RCV004142348]uncertain significance155062823550628235Humanname
155919155CV2360161single nucleotide variantNM_017672.6(TRPM7):c.2455C>T (p.Arg819Trp)not specified [RCV004215430]uncertain significance155060970650609706Humanname
155928197CV2361879single nucleotide variantNM_017672.6(TRPM7):c.2405A>G (p.Asn802Ser)not specified [RCV004207654]uncertain significance155060983750609837Humanname
329382966CV2434414single nucleotide variantNM_017672.6(TRPM7):c.2875G>T (p.Val959Leu)not specified [RCV004254128]uncertain significance155060497950604979Humanname
329388164CV2468710single nucleotide variantNM_017672.6(TRPM7):c.1741A>G (p.Ile581Val)not specified [RCV004280038]uncertain significance155061373650613736Humanname
401775926CV2706810single nucleotide variantNM_017672.6(TRPM7):c.2949T>A (p.Asn983Lys)not specified [RCV004321448]uncertain significance155060490550604905Humanname
401797212CV2742027single nucleotide variantNM_017672.6(TRPM7):c.1609T>C (p.Tyr537His)not specified [RCV003324203]uncertain significance155061414950614149Humanname
401893642CV2765385single nucleotide variantNM_017672.6(TRPM7):c.1652C>T (p.Thr551Ile)not specified [RCV004339886]uncertain significance155061382550613825Humanname
401884426CV2789680single nucleotide variantNM_017672.6(TRPM7):c.1126G>A (p.Glu376Lys)not specified [RCV004360271]uncertain significance155063287450632874Humanname
401930249CV2817573single nucleotide variantNM_017672.6(TRPM7):c.1448G>A (p.Gly483Asp)not provided [RCV003390491]uncertain significance155061979150619791Humanname
405218875CV2873654single nucleotide variantNM_017672.6(TRPM7):c.2848G>A (p.Ala950Thr)not provided [RCV003553486]uncertain significance155060500650605006Humanname
405281238CV3223976single nucleotide variantNM_017672.6(TRPM7):c.1504C>A (p.Pro502Thr)not specified [RCV003988355]uncertain significance155061425450614254Humanname
405707574CV3225398single nucleotide variantNM_017672.6(TRPM7):c.1729C>T (p.His577Tyr)Amyotrophic lateral sclerosis-parkinsonism-dementia complex [RCV003990452]uncertain significance155061374850613748Human1name
405761996CV3344421single nucleotide variantNM_017672.6(TRPM7):c.1097A>G (p.Gln366Arg)not specified [RCV004468786]uncertain significance155063290350632903Humanname
405762006CV3344423single nucleotide variantNM_017672.6(TRPM7):c.2231C>T (p.Ser744Phe)not specified [RCV004468788]uncertain significance155061114250611142Humanname
405762011CV3344424single nucleotide variantNM_017672.6(TRPM7):c.2281G>A (p.Val761Ile)not specified [RCV004468789]uncertain significance155060996150609961Humanname
405762016CV3344425single nucleotide variantNM_017672.6(TRPM7):c.2387T>C (p.Met796Thr)not specified [RCV004468790]uncertain significance155060985550609855Humanname
405762023CV3344426single nucleotide variantNM_017672.6(TRPM7):c.2393A>G (p.Asp798Gly)not specified [RCV004468791]uncertain significance155060984950609849Humanname
405762030CV3344427single nucleotide variantNM_017672.6(TRPM7):c.2456G>A (p.Arg819Gln)not specified [RCV004468792]uncertain significance155060970550609705Humanname
405762036CV3344428single nucleotide variantNM_017672.6(TRPM7):c.2653C>G (p.Gln885Glu)not specified [RCV004468793]uncertain significance155060725650607256Humanname
405762039CV3344429single nucleotide variantNM_017672.6(TRPM7):c.2745G>T (p.Lys915Asn)not specified [RCV004468794]uncertain significance155060510950605109Humanname
405762046CV3344430single nucleotide variantNM_017672.6(TRPM7):c.2996A>G (p.Asn999Ser)not specified [RCV004468795]uncertain significance155059928950599289Humanname
407527805CV3488889single nucleotide variantNM_017672.6(TRPM7):c.2071G>A (p.Val691Ile)not specified [RCV004680157]uncertain significance155061130250611302Humanname
407527818CV3488893single nucleotide variantNM_017672.6(TRPM7):c.1906G>T (p.Val636Phe)not specified [RCV004680161]uncertain significance155061269450612694Humanname
407574240CV3498613single nucleotide variantNM_017672.6(TRPM7):c.1953A>T (p.Lys651Asn)not specified [RCV004703089]uncertain significance155061264750612647Humanname
408391830CV3523452single nucleotide variantNM_017672.6(TRPM7):c.2604G>C (p.Met868Ile)not provided [RCV004770826]uncertain significance155060730550607305Humanname
408389146CV3529240single nucleotide variantNM_017672.6(TRPM7):c.2440G>T (p.Val814Leu)not provided [RCV004774062]uncertain significance155060972150609721Humanname
596922705CV3530057single nucleotide variantNM_017672.6(TRPM7):c.2144A>G (p.Asn715Ser)not provided [RCV004776656]uncertain significance155061122950611229Humanname
596928588CV3540466deletionNM_017672.6(TRPM7):c.5321del (p.Asn1774fs)not provided [RCV004794793]uncertain significance155057014350570143Humanname
597651968CV3552053single nucleotide variantNM_017672.6(TRPM7):c.1592A>G (p.Lys531Arg)not provided [RCV004820766]uncertain significance155061416650614166Humanname
597680629CV3622105single nucleotide variantNM_017672.6(TRPM7):c.1594C>T (p.Arg532Cys)not specified [RCV004883545]uncertain significance155061416450614164Humanname
597680639CV3622107single nucleotide variantNM_017672.6(TRPM7):c.1684C>G (p.His562Asp)not specified [RCV004883547]uncertain significance155061379350613793Humanname
597680712CV3622117single nucleotide variantNM_017672.6(TRPM7):c.1016C>T (p.Pro339Leu)not specified [RCV004883557]uncertain significance155063298450632984Humanname
597680725CV3622119single nucleotide variantNM_017672.6(TRPM7):c.1514A>G (p.Tyr505Cys)not specified [RCV004883559]uncertain significance155061424450614244Humanname
597680745CV3622122single nucleotide variantNM_017672.6(TRPM7):c.2213G>A (p.Cys738Tyr)not specified [RCV004883562]uncertain significance155061116050611160Humanname
597680758CV3622124single nucleotide variantNM_017672.6(TRPM7):c.1076A>G (p.Asn359Ser)not specified [RCV004883564]likely benign155063292450632924Humanname
597680772CV3622126single nucleotide variantNM_017672.6(TRPM7):c.2861A>T (p.Asp954Val)not specified [RCV004883566]uncertain significance155060499350604993Humanname
597632028CV3703949single nucleotide variantNM_017672.6(TRPM7):c.2525C>T (p.Thr842Met)Amyotrophic lateral sclerosis-parkinsonism-dementia complex [RCV005003080]|not specified [RCV005061865]uncertain significance155060963650609636Human1name
597831866CV3863967single nucleotide variantNM_017672.6(TRPM7):c.2704C>T (p.Arg902Cys)Amyotrophic lateral sclerosis-parkinsonism-dementia complex [RCV005208381]uncertain significance155060720550607205Human1name
598123918CV3885115single nucleotide variantNM_017672.6(TRPM7):c.1676G>A (p.Arg559Gln)not specified [RCV005238727]uncertain significance155061380150613801Humanname
598235944CV3893515single nucleotide variantNM_017672.6(TRPM7):c.2815T>C (p.Phe939Leu)not provided [RCV005256248]uncertain significance155060503950605039Humanname
598236927CV3932220single nucleotide variantNM_017672.6(TRPM7):c.1393A>G (p.Met465Val)not specified [RCV005296139]uncertain significance155062421350624213Humanname
598236931CV3932221single nucleotide variantNM_017672.6(TRPM7):c.2530A>C (p.Lys844Gln)not specified [RCV005296140]uncertain significance155060963150609631Humanname
598215342CV3932224single nucleotide variantNM_017672.6(TRPM7):c.2612C>T (p.Thr871Ile)not specified [RCV005292705]uncertain significance155060729750607297Humanname
598215357CV3932228single nucleotide variantNM_017672.6(TRPM7):c.1820T>C (p.Ile607Thr)not specified [RCV005292708]uncertain significance155061278050612780Humanname
598236944CV3932229single nucleotide variantNM_017672.6(TRPM7):c.2449G>A (p.Glu817Lys)not specified [RCV005296143]uncertain significance155060971250609712Humanname
616938055CV4013356single nucleotide variantNM_017672.6(TRPM7):c.1680G>C (p.Lys560Asn)not provided [RCV005410823]uncertain significance155061379750613797Humanname
617149690CV4018735single nucleotide variantNM_017672.6(TRPM7):c.1404C>G (p.Phe468Leu)not provided [RCV005422647]uncertain significance155062420250624202Humanname
12906097CV413891single nucleotide variantNM_017672.6(TRPM7):c.2161T>G (p.Cys721Gly)not provided [RCV000488422]uncertain significance155061121250611212Humanname
15181625CV726120single nucleotide variantNM_017672.6(TRPM7):c.2846T>A (p.Phe949Tyr)TRPM7-related disorder [RCV003920644]|not provided [RCV000885807]benign|likely benign155060500850605008Human1name , trait , alternate_id
8627661CV82805single nucleotide variantNM_017672.5(TRPM7):c.2431C>T (p.Pro811Ser)Malignant melanoma [RCV000062885]not provided155060981150609811Humanname
126912387CV1038332single nucleotide variantNM_017672.6(TRPM7):c.4592T>G (p.Met1531Arg)not provided [RCV001356477]uncertain significance155058087450580874Humanname
152979528CV1675620single nucleotide variantNM_017672.6(TRPM7):c.4928A>G (p.His1643Arg)Amyotrophic lateral sclerosis-parkinsonism-dementia complex [RCV002244210]uncertain significance155057494350574943Human1name
155803745CV1858311single nucleotide variantNM_017672.6(TRPM7):c.3542A>G (p.Tyr1181Cys)not provided [RCV002462620]uncertain significance155059368350593683Humanname
8558298CV19846single nucleotide variantNM_017672.6(TRPM7):c.4445C>T (p.Thr1482Ile)Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to [RCV000005076]|Juvenile amyotrophic lateral sclerosis [RCV001095429]|TRPM7-related disorder [RCV003964793]|not provided [RCV001723538]risk factor|benign|uncertain significance155058643350586433Human6name , trait , alternate_id
8558298CV19846single nucleotide variantNM_017672.6(TRPM7):c.4445C>T (p.Thr1482Ile)Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to [RCV000005076]|Juvenile amyotrophic lateral sclerosis [RCV001095429]|TRPM7-related disorder [RCV003964793]|not provided [RCV001723538]risk factor|benign|uncertain significance155058643350586434Human6name , trait , alternate_id
156296795CV2240785single nucleotide variantNM_017672.6(TRPM7):c.3656A>G (p.Asn1219Ser)not specified [RCV004102086]uncertain significance155059257950592579Humanname
155924776CV2248863single nucleotide variantNM_017672.6(TRPM7):c.4301A>G (p.Asn1434Ser)not specified [RCV004115873]uncertain significance155059193450591934Humanname
156181763CV2255131single nucleotide variantNM_017672.6(TRPM7):c.3412A>G (p.Ile1138Val)not specified [RCV004115757]uncertain significance155059449250594492Humanname
156033964CV2256579single nucleotide variantNM_017672.6(TRPM7):c.4312G>A (p.Gly1438Arg)not specified [RCV004118772]uncertain significance155059192350591923Humanname
156302812CV2319761single nucleotide variantNM_017672.6(TRPM7):c.4477T>C (p.Ser1493Pro)not specified [RCV004187295]uncertain significance155058640150586401Humanname
155920658CV2340316single nucleotide variantNM_017672.6(TRPM7):c.4144C>A (p.Gln1382Lys)not specified [RCV004195005]uncertain significance155059209150592091Humanname
156329344CV2342391single nucleotide variantNM_017672.6(TRPM7):c.4134T>G (p.Phe1378Leu)not specified [RCV004194004]uncertain significance155059210150592101Humanname
156239308CV2356336single nucleotide variantNM_017672.6(TRPM7):c.4447G>A (p.Asp1483Asn)not specified [RCV004206142]uncertain significance155058643150586431Humanname
156085506CV2366189single nucleotide variantNM_017672.6(TRPM7):c.3400A>G (p.Ile1134Val)not specified [RCV004210214]uncertain significance155059450450594504Humanname
156213143CV2367038single nucleotide variantNM_017672.6(TRPM7):c.4778A>G (p.Asn1593Ser)not specified [RCV004215489]likely benign155057509350575093Humanname
156184304CV2377710single nucleotide variantNM_017672.6(TRPM7):c.4591A>G (p.Met1531Val)not specified [RCV004228254]uncertain significance155058087550580875Humanname
156042753CV2381485single nucleotide variantNM_017672.6(TRPM7):c.5585G>A (p.Arg1862His)not specified [RCV004229965]uncertain significance155056169150561691Humanname
156058194CV2396439single nucleotide variantNM_017672.6(TRPM7):c.4043C>G (p.Ala1348Gly)not specified [RCV004242152]uncertain significance155059219250592192Humanname
156167008CV2398989single nucleotide variantNM_017672.6(TRPM7):c.5515G>A (p.Asp1839Asn)not specified [RCV004245294]uncertain significance155056176150561761Humanname
156451095CV2402472single nucleotide variantNM_017672.6(TRPM7):c.3136G>C (p.Gly1046Arg)not provided [RCV003123273]uncertain significance155059914950599149Humanname
156451302CV2402695single nucleotide variantNM_017672.6(TRPM7):c.4396A>G (p.Asn1466Asp)not specified [RCV003123501]uncertain significance155058648250586482Humanname
329375954CV2431678single nucleotide variantNM_017672.6(TRPM7):c.3880G>A (p.Val1294Ile)not specified [RCV004248846]uncertain significance155059235550592355Humanname
329356237CV2442535single nucleotide variantNM_017672.6(TRPM7):c.3898T>C (p.Ser1300Pro)not specified [RCV004266764]uncertain significance155059233750592337Humanname
329351165CV2477952single nucleotide variantNM_017672.6(TRPM7):c.4775C>T (p.Pro1592Leu)not provided [RCV003224065]uncertain significance155057509650575096Humanname
401723411CV2672119single nucleotide variantNM_017672.6(TRPM7):c.4333G>A (p.Asp1445Asn)not provided [RCV003239020]uncertain significance155058964850589648Humanname
401754213CV2717057single nucleotide variantNM_017672.6(TRPM7):c.4329C>A (p.His1443Gln)not specified [RCV004330087]uncertain significance155058965250589652Humanname
401762931CV2720133single nucleotide variantNM_017672.6(TRPM7):c.4316C>T (p.Ala1439Val)not specified [RCV004323694]uncertain significance155059191950591919Humanname
401768476CV2735318single nucleotide variantNM_017672.6(TRPM7):c.3593G>A (p.Arg1198His)not specified [RCV004333982]uncertain significance155059363250593632Humanname
401867554CV2780544single nucleotide variantNM_017672.6(TRPM7):c.4328A>G (p.His1443Arg)not specified [RCV004358230]uncertain significance155058965350589653Humanname
401917316CV2829791single nucleotide variantNM_017672.6(TRPM7):c.5456T>C (p.Leu1819Pro)not provided [RCV003443835]uncertain significance155056989850569898Humanname
401948452CV2832523single nucleotide variantNM_017672.6(TRPM7):c.2999T>C (p.Met1000Thr)See cases [RCV003448503]pathogenic155059928650599286Humanname
401948455CV2832524single nucleotide variantNM_017672.6(TRPM7):c.3242T>G (p.Leu1081Arg)See cases [RCV003448504]pathogenic155059630350596303Humanname
405275911CV3199496single nucleotide variantNM_017672.6(TRPM7):c.4979G>A (p.Ser1660Asn)TRPM7-related disorder [RCV003916895]benign155057489250574892Humanname , trait , alternate_id
405285363CV3212411single nucleotide variantNM_017672.6(TRPM7):c.4262A>G (p.Asp1421Gly)TRPM7-related disorder [RCV003959016]|not provided [RCV004703354]likely benign155059197350591973Human1name , trait , alternate_id
405281183CV3223954single nucleotide variantNM_017672.6(TRPM7):c.5156T>C (p.Val1719Ala)not specified [RCV003988333]uncertain significance155057442650574426Humanname
405762051CV3344431single nucleotide variantNM_017672.6(TRPM7):c.3092C>T (p.Thr1031Ile)not specified [RCV004468796]uncertain significance155059919350599193Humanname
405762059CV3344432single nucleotide variantNM_017672.6(TRPM7):c.3808A>C (p.Ile1270Leu)not specified [RCV004468797]uncertain significance155059242750592427Humanname
405762064CV3344433single nucleotide variantNM_017672.6(TRPM7):c.4051T>C (p.Ser1351Pro)not specified [RCV004468798]uncertain significance155059218450592184Humanname
405762068CV3344434single nucleotide variantNM_017672.6(TRPM7):c.4225C>T (p.Pro1409Ser)not specified [RCV004468799]uncertain significance155059201050592010Humanname
405762073CV3344435single nucleotide variantNM_017672.6(TRPM7):c.4334A>G (p.Asp1445Gly)not specified [RCV004468800]uncertain significance155058964750589647Humanname
405762080CV3344436single nucleotide variantNM_017672.6(TRPM7):c.4400C>T (p.Thr1467Ile)not specified [RCV004468801]uncertain significance155058647850586478Humanname
405762084CV3344437single nucleotide variantNM_017672.6(TRPM7):c.4469C>T (p.Pro1490Leu)not specified [RCV004468802]uncertain significance155058640950586409Humanname
405762091CV3344438single nucleotide variantNM_017672.6(TRPM7):c.4609A>G (p.Thr1537Ala)not specified [RCV004468803]uncertain significance155057864850578648Humanname
405762097CV3344439single nucleotide variantNM_017672.6(TRPM7):c.4847A>G (p.Lys1616Arg)not specified [RCV004468804]uncertain significance155057502450575024Humanname
405854142CV3393804single nucleotide variantNM_017672.6(TRPM7):c.3754C>T (p.Gln1252Ter)not provided [RCV004547030]uncertain significance155059248150592481Humanname
405872336CV3398382single nucleotide variantNM_017672.6(TRPM7):c.5135C>T (p.Ser1712Leu)not provided [RCV004575383]uncertain significance155057444750574447Humanname
407527799CV3488887single nucleotide variantNM_017672.6(TRPM7):c.5221A>G (p.Thr1741Ala)not specified [RCV004680155]uncertain significance155057436150574361Humanname
407527802CV3488888single nucleotide variantNM_017672.6(TRPM7):c.4376T>C (p.Ile1459Thr)not specified [RCV004680156]uncertain significance155058960550589605Humanname
407527808CV3488890single nucleotide variantNM_017672.6(TRPM7):c.4109A>G (p.His1370Arg)not specified [RCV004680158]uncertain significance155059212650592126Humanname
407527811CV3488891single nucleotide variantNM_017672.6(TRPM7):c.4364C>T (p.Thr1455Ile)not specified [RCV004680159]uncertain significance155058961750589617Humanname
407527815CV3488892single nucleotide variantNM_017672.6(TRPM7):c.5533A>G (p.Asn1845Asp)not specified [RCV004680160]uncertain significance155056174350561743Humanname
407527823CV3488896single nucleotide variantNM_017672.6(TRPM7):c.3567T>G (p.Phe1189Leu)not specified [RCV004680164]uncertain significance155059365850593658Humanname
407527827CV3488897single nucleotide variantNM_017672.6(TRPM7):c.5407A>G (p.Ile1803Val)not specified [RCV004680165]uncertain significance155056994750569947Humanname
407527830CV3488898single nucleotide variantNM_017672.6(TRPM7):c.3650G>A (p.Arg1217His)not specified [RCV004680166]uncertain significance155059258550592585Humanname
407527833CV3488899single nucleotide variantNM_017672.6(TRPM7):c.3130A>G (p.Ile1044Val)not specified [RCV004680167]uncertain significance155059915550599155Humanname
407475653CV3494748single nucleotide variantNM_017672.6(TRPM7):c.4074T>G (p.Ser1358Arg)not specified [RCV004690647]uncertain significance155059216150592161Humanname
408393857CV3526249single nucleotide variantNM_017672.6(TRPM7):c.3868A>C (p.Lys1290Gln)Amyotrophic lateral sclerosis-parkinsonism-dementia complex [RCV004771681]uncertain significance155059236750592367Human1name
596926023CV3530668single nucleotide variantNM_017672.6(TRPM7):c.3229C>T (p.Gln1077Ter)not provided [RCV004778253]uncertain significance155059631650596316Humanname
596920544CV3534017single nucleotide variantNM_017672.6(TRPM7):c.4568A>G (p.Gln1523Arg)not specified [RCV004783235]uncertain significance155058089850580898Humanname
596944888CV3543551single nucleotide variantNM_017672.6(TRPM7):c.3283T>C (p.Phe1095Leu)not provided [RCV004801673]uncertain significance155059626250596262Humanname
597651980CV3552054single nucleotide variantNM_017672.6(TRPM7):c.4669G>A (p.Ala1557Thr)not provided [RCV004820767]uncertain significance155057586950575869Humanname
597680635CV3622106single nucleotide variantNM_017672.6(TRPM7):c.4319T>C (p.Phe1440Ser)not specified [RCV004883546]uncertain significance155059191650591916Humanname
597680647CV3622108single nucleotide variantNM_017672.6(TRPM7):c.3157A>G (p.Ile1053Val)not specified [RCV004883548]uncertain significance155059912850599128Humanname
597681245CV3622109single nucleotide variantNM_017672.6(TRPM7):c.4027T>C (p.Phe1343Leu)not specified [RCV004883549]uncertain significance155059220850592208Humanname
597680669CV3622111single nucleotide variantNM_017672.6(TRPM7):c.4397A>G (p.Asn1466Ser)not specified [RCV004883551]likely benign155058648150586481Humanname
597680684CV3622113single nucleotide variantNM_017672.6(TRPM7):c.3556G>A (p.Asp1186Asn)not specified [RCV004883553]uncertain significance155059366950593669Humanname
597680704CV3622116single nucleotide variantNM_017672.6(TRPM7):c.4723G>A (p.Val1575Met)not specified [RCV004883556]uncertain significance155057573650575736Humanname
597680718CV3622118single nucleotide variantNM_017672.6(TRPM7):c.3169G>A (p.Ala1057Thr)not specified [RCV004883558]uncertain significance155059637650596376Humanname
597680733CV3622120single nucleotide variantNM_017672.6(TRPM7):c.3492A>C (p.Glu1164Asp)not specified [RCV004883560]uncertain significance155059373350593733Humanname
597680738CV3622121single nucleotide variantNM_017672.6(TRPM7):c.3019A>G (p.Met1007Val)not specified [RCV004883561]uncertain significance155059926650599266Humanname
597680752CV3622123single nucleotide variantNM_017672.6(TRPM7):c.5309G>A (p.Gly1770Asp)not specified [RCV004883563]uncertain significance155057015550570155Humanname
597664443CV3732525single nucleotide variantNM_017672.6(TRPM7):c.5150T>G (p.Phe1717Cys)not provided [RCV005003994]uncertain significance155057443250574432Humanname
598126623CV3882078single nucleotide variantNM_017672.6(TRPM7):c.4974G>T (p.Trp1658Cys)not provided [RCV005233629]uncertain significance155057489750574897Humanname
598236936CV3932222single nucleotide variantNM_017672.6(TRPM7):c.3578G>A (p.Ser1193Asn)not specified [RCV005296141]uncertain significance155059364750593647Humanname
598215337CV3932223single nucleotide variantNM_017672.6(TRPM7):c.4223A>G (p.Gln1408Arg)not specified [RCV005292704]uncertain significance155059201250592012Humanname
598215347CV3932225single nucleotide variantNM_017672.6(TRPM7):c.5368G>A (p.Asp1790Asn)not specified [RCV005292706]uncertain significance155056998650569986Humanname
598215352CV3932227single nucleotide variantNM_017672.6(TRPM7):c.3098C>A (p.Ala1033Asp)not specified [RCV005292707]uncertain significance155059918750599187Humanname
598236948CV3932230single nucleotide variantNM_017672.6(TRPM7):c.3964G>A (p.Asp1322Asn)not specified [RCV005296144]uncertain significance155059227150592271Humanname
598215362CV3932232single nucleotide variantNM_017672.6(TRPM7):c.3860C>G (p.Ser1287Cys)not specified [RCV005292709]uncertain significance155059237550592375Humanname
616938503CV4014996single nucleotide variantNM_017672.6(TRPM7):c.4327C>T (p.His1443Tyr)not provided [RCV005412012]uncertain significance155058965450589654Humanname
15196405CV754514single nucleotide variantNM_017672.6(TRPM7):c.3968A>G (p.Lys1323Arg)not provided [RCV000911688]likely benign155059226750592267Humanname
8635493CV90714single nucleotide variantNM_017672.5(TRPM7):c.3907C>T (p.Pro1303Ser)Malignant melanoma [RCV000070812]not provided155059232850592328Humanname
38597970CV963079single nucleotide variantNM_017672.6(TRPM7):c.3137G>A (p.Gly1046Asp)Intestinal hypomagnesemia 1 [RCV001251044]pathogenic155059914850599148Human1name
405282754CV3220682deletionNM_017672.6(TRPM7):c.4500_4502del (p.Ser1500del)TRPM7-related disorder [RCV003978987]benign155058314450583146Humanname , trait , alternate_id
153305708CV1688753microsatelliteNM_017672.6(TRPM7):c.4333_4334del (p.Arg1444_Asp1445insTer)not specified [RCV002266492]uncertain significance155058964750589648Humanname