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123 records found for search term Capn10
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
598128431CV3887636single nucleotide variantNM_023083.4(CAPN10):c.141+2T>Anot provided [RCV005243809]uncertain significance2240587054240587054Humanname
401918405CV2523077single nucleotide variantNM_023083.4(CAPN10):c.1989+1G>ACAPN10-related disorder [RCV003388180]pathogenic2240598398240598398Humanname , trait , alternate_id
405275002CV3199900single nucleotide variantNM_023083.4(CAPN10):c.1990-7T>CCAPN10-related disorder [RCV004554500]benign2240598644240598644Humanname , trait , alternate_id
8558472CV20132single nucleotide variantNM_023083.4(CAPN10):c.471-176G>AType 2 diabetes mellitus 1, susceptibility to [RCV001799496]risk factor2240591757240591757Human1name
8558475CV20135single nucleotide variantNM_023083.4(CAPN10):c.471-187T>CPolycystic ovary syndrome, susceptibility to [RCV000005402]|Type 2 diabetes mellitus 1, susceptibility to [RCV001799499]risk factor2240591746240591746Human2name
15129117CV787112single nucleotide variantNM_023083.4(CAPN10):c.1944-10C>Gnot provided [RCV000980824]likely benign2240598342240598342Humanname
407474953CV3424606single nucleotide variantNM_023083.4(CAPN10):c.8C>T (p.Ala3Val)Inborn genetic diseases [RCV004600755]uncertain significance2240586919240586919Human1name
156075996CV2321840single nucleotide variantNM_023083.4(CAPN10):c.25C>T (p.Pro9Ser)Inborn genetic diseases [RCV002925890]uncertain significance2240586936240586936Human1name
15178297CV697467variationNM_023083.4(CAPN10):c.1996= (p.Ile666=)not provided [RCV000951246]benign2240598657240598657Humanname
15192717CV733320single nucleotide variantNM_023083.4(CAPN10):c.243G>A (p.Ala81=)not provided [RCV000910625]likely benign2240589444240589444Humanname
126912696CV1037169single nucleotide variantNM_023083.4(CAPN10):c.960G>A (p.Pro320=)not provided [RCV001356734]uncertain significance2240594672240594672Humanname
150466509CV1277417single nucleotide variantNM_023083.4(CAPN10):c.711C>T (p.Phe237=)not provided [RCV001710712]benign2240593928240593928Humanname
8558473CV20133duplicationNM_023083.4(CAPN10):c.997+136_998-148dupType 2 diabetes mellitus 1, susceptibility to [RCV001799497]risk factor2240594824240594825Human1name
405258603CV3203938single nucleotide variantNM_023083.4(CAPN10):c.459G>A (p.Lys153=)CAPN10-related disorder [RCV004552709]likely benign2240591000240591000Humanname , trait , alternate_id
405283439CV3217149single nucleotide variantNM_023083.4(CAPN10):c.600A>G (p.Pro200=)CAPN10-related disorder [RCV004554495]benign2240592062240592062Humanname , trait , alternate_id
407474960CV3424608single nucleotide variantNM_023083.4(CAPN10):c.42C>G (p.Phe14Leu)Inborn genetic diseases [RCV004600757]uncertain significance2240586953240586953Human1name
598163745CV3943129single nucleotide variantNM_023083.4(CAPN10):c.64G>T (p.Ala22Ser)Inborn genetic diseases [RCV005307430]likely benign2240586975240586975Human1name
598212834CV3943134single nucleotide variantNM_023083.4(CAPN10):c.44G>A (p.Arg15Gln)Inborn genetic diseases [RCV005316225]uncertain significance2240586955240586955Human1name
15132062CV733321single nucleotide variantNM_023083.4(CAPN10):c.465C>T (p.Tyr155=)not provided [RCV000897889]likely benign2240591006240591006Humanname
15192719CV733322single nucleotide variantNM_023083.4(CAPN10):c.486C>T (p.Tyr162=)not provided [RCV000910626]likely benign2240591948240591948Humanname
15125104CV733324single nucleotide variantNM_023083.4(CAPN10):c.828G>A (p.Glu276=)not provided [RCV000896702]benign2240594045240594045Humanname
15139300CV733326single nucleotide variantNM_023083.4(CAPN10):c.966G>A (p.Thr322=)CAPN10-related disorder [RCV004551706]|not provided [RCV000899124]likely benign2240594678240594678Human1name , trait , alternate_id
15165305CV747451single nucleotide variantNM_023083.4(CAPN10):c.768C>T (p.Ile256=)not provided [RCV000926591]likely benign2240593985240593985Humanname
15180965CV763097single nucleotide variantNM_023083.4(CAPN10):c.756G>A (p.Ala252=)not provided [RCV000930013]likely benign2240593973240593973Humanname
156377479CV2207101single nucleotide variantNM_023083.4(CAPN10):c.148T>C (p.Cys50Arg)Inborn genetic diseases [RCV002678021]uncertain significance2240589349240589349Human1name
156075755CV2248118single nucleotide variantNM_023083.4(CAPN10):c.238G>A (p.Ala80Thr)Inborn genetic diseases [RCV002797656]uncertain significance2240589439240589439Human1name
156027214CV2278414single nucleotide variantNM_023083.4(CAPN10):c.187G>A (p.Gly63Arg)Inborn genetic diseases [RCV002845111]uncertain significance2240589388240589388Human1name
155927154CV2285068single nucleotide variantNM_023083.4(CAPN10):c.125C>T (p.Thr42Met)Inborn genetic diseases [RCV002860467]uncertain significance2240587036240587036Human1name
405266471CV3202001single nucleotide variantNM_023083.4(CAPN10):c.1647C>T (p.Pro549=)CAPN10-related disorder [RCV004550836]likely benign2240596846240596846Humanname , trait , alternate_id
405256369CV3203625single nucleotide variantNM_023083.4(CAPN10):c.1350A>T (p.Ala450=)CAPN10-related disorder [RCV004552700]likely benign2240596390240596390Humanname , trait , alternate_id
405289410CV3205158single nucleotide variantNM_023083.4(CAPN10):c.1533G>A (p.Ala511=)CAPN10-related disorder [RCV004552868]likely benign2240596732240596732Humanname , trait , alternate_id
405276171CV3206613single nucleotide variantNM_023083.4(CAPN10):c.1341G>A (p.Ala447=)CAPN10-related disorder [RCV004550949]likely benign2240596381240596381Humanname , trait , alternate_id
405295201CV3211102single nucleotide variantNM_023083.4(CAPN10):c.1170G>A (p.Ala390=)CAPN10-related disorder [RCV004552671]likely benign2240595196240595196Humanname , trait , alternate_id
405768512CV3298857single nucleotide variantNM_023083.4(CAPN10):c.136C>T (p.Pro46Ser)Inborn genetic diseases [RCV004434872]uncertain significance2240587047240587047Human1name
405768531CV3298860single nucleotide variantNM_023083.4(CAPN10):c.293C>T (p.Pro98Leu)Inborn genetic diseases [RCV004434875]uncertain significance2240590834240590834Human1name
597645264CV3647671single nucleotide variantNM_023083.4(CAPN10):c.161G>A (p.Arg54Gln)Inborn genetic diseases [RCV004972581]uncertain significance2240589362240589362Human1name
597645269CV3647672single nucleotide variantNM_023083.4(CAPN10):c.160C>T (p.Arg54Trp)Inborn genetic diseases [RCV004972582]uncertain significance2240589361240589361Human1name
12847757CV366474single nucleotide variantNM_023083.4(CAPN10):c.1776C>T (p.Pro592=)not specified [RCV000444055]likely benign2240597920240597920Humanname
598209821CV3894982single nucleotide variantNM_023083.4(CAPN10):c.1140C>T (p.Ala380=)CAPN10-related disorder [RCV005358446]uncertain significance2240595166240595166Humanname , trait , alternate_id
598163750CV3943130single nucleotide variantNM_023083.4(CAPN10):c.241G>A (p.Ala81Thr)Inborn genetic diseases [RCV005307431]uncertain significance2240589442240589442Human1name
15195291CV719750single nucleotide variantNM_023083.4(CAPN10):c.100C>G (p.Leu34Val)not provided [RCV000889461]benign2240587011240587011Humanname
15162809CV733328single nucleotide variantNM_023083.4(CAPN10):c.1710C>T (p.Thr570=)not provided [RCV000903635]benign2240596909240596909Humanname
15148234CV747452single nucleotide variantNM_023083.4(CAPN10):c.1188C>T (p.Ala396=)not provided [RCV000923058]likely benign2240595214240595214Humanname
15198858CV747453single nucleotide variantNM_023083.4(CAPN10):c.1431G>A (p.Ala477=)CAPN10-related disorder [RCV004551793]|not provided [RCV000912376]benign|likely benign2240596471240596471Human1name , trait , alternate_id
127263031CV1059263duplicationNM_023083.4(CAPN10):c.1070dup (p.Asn357fs)not provided [RCV001387864]pathogenic2240595094240595095Humanname
156404235CV1898169single nucleotide variantNM_023083.4(CAPN10):c.379C>T (p.Arg127Cys)not provided [RCV002585361]uncertain significance2240590920240590920Humanname
155925922CV2230529single nucleotide variantNM_023083.4(CAPN10):c.706G>C (p.Glu236Gln)Inborn genetic diseases [RCV002728088]uncertain significance2240593923240593923Human1name
156159226CV2236201single nucleotide variantNM_023083.4(CAPN10):c.929G>A (p.Arg310Lys)Inborn genetic diseases [RCV002787380]uncertain significance2240594641240594641Human1name
156083742CV2289620single nucleotide variantNM_023083.4(CAPN10):c.604C>A (p.Arg202Ser)Inborn genetic diseases [RCV002869414]uncertain significance2240592066240592066Human1name
156274610CV2334124single nucleotide variantNM_023083.4(CAPN10):c.873G>T (p.Glu291Asp)Inborn genetic diseases [RCV002960562]uncertain significance2240594585240594585Human1name
155934251CV2372424single nucleotide variantNM_023083.4(CAPN10):c.415C>T (p.Arg139Cys)Inborn genetic diseases [RCV002684620]uncertain significance2240590956240590956Human1name
156347898CV2375582single nucleotide variantNM_023083.4(CAPN10):c.605G>A (p.Arg202His)Inborn genetic diseases [RCV002719940]uncertain significance2240592067240592067Human1name
156181488CV2384079single nucleotide variantNM_023083.4(CAPN10):c.652T>C (p.Cys218Arg)Inborn genetic diseases [RCV002699406]uncertain significance2240592114240592114Human1name
329354435CV2448172single nucleotide variantNM_023083.4(CAPN10):c.835G>A (p.Glu279Lys)Inborn genetic diseases [RCV003202211]uncertain significance2240594547240594547Human1name
329394563CV2461413single nucleotide variantNM_023083.4(CAPN10):c.680C>T (p.Pro227Leu)Inborn genetic diseases [RCV003193739]uncertain significance2240592142240592142Human1name
401740179CV2683282single nucleotide variantNM_023083.4(CAPN10):c.644A>G (p.Lys215Arg)Inborn genetic diseases [RCV003251155]uncertain significance2240592106240592106Human1name
401747744CV2691673single nucleotide variantNM_023083.4(CAPN10):c.429G>C (p.Glu143Asp)Inborn genetic diseases [RCV003242319]uncertain significance2240590970240590970Human1name
405768537CV3298861single nucleotide variantNM_023083.4(CAPN10):c.353G>A (p.Arg118His)Inborn genetic diseases [RCV004434876]likely benign2240590894240590894Human1name
405768545CV3298862single nucleotide variantNM_023083.4(CAPN10):c.416G>A (p.Arg139His)Inborn genetic diseases [RCV004434877]uncertain significance2240590957240590957Human1name
405768558CV3298864single nucleotide variantNM_023083.4(CAPN10):c.476A>G (p.His159Arg)Inborn genetic diseases [RCV004434879]uncertain significance2240591938240591938Human1name
405768563CV3298865single nucleotide variantNM_023083.4(CAPN10):c.752A>G (p.Gln251Arg)Inborn genetic diseases [RCV004434880]likely benign2240593969240593969Human1name
597645318CV3647681single nucleotide variantNM_023083.4(CAPN10):c.445C>T (p.Pro149Ser)Inborn genetic diseases [RCV004972591]uncertain significance2240590986240590986Human1name
597645328CV3647683single nucleotide variantNM_023083.4(CAPN10):c.850G>T (p.Val284Leu)Inborn genetic diseases [RCV004972593]uncertain significance2240594562240594562Human1name
598163755CV3943131single nucleotide variantNM_023083.4(CAPN10):c.358G>A (p.Val120Met)Inborn genetic diseases [RCV005307432]uncertain significance2240590899240590899Human1name
15150760CV733323single nucleotide variantNM_023083.4(CAPN10):c.598C>A (p.Pro200Thr)not provided [RCV000901222]benign2240592060240592060Humanname
15169340CV733325single nucleotide variantNM_023083.4(CAPN10):c.959C>T (p.Pro320Leu)not provided [RCV000905037]likely benign2240594671240594671Humanname
40886534CV973289single nucleotide variantNM_023083.4(CAPN10):c.466G>A (p.Ala156Thr)Inborn genetic diseases [RCV001265657]uncertain significance2240591007240591007Human1name
150509999CV1286331single nucleotide variantNM_023083.4(CAPN10):c.1510A>G (p.Thr504Ala)CAPN10-related disorder [RCV004551988]|not provided [RCV001720859]benign2240596709240596709Human1name , trait , alternate_id
155266403CV1698904single nucleotide variantNM_023083.4(CAPN10):c.1720C>G (p.Pro574Ala)Diabetes mellitus, noninsulin-dependent, 1 [RCV002282758]uncertain significance2240596919240596919Human1name
156419008CV1929189single nucleotide variantNM_023083.4(CAPN10):c.1016C>T (p.Thr339Met)Inborn genetic diseases [RCV003162017]|not provided [RCV002612220]uncertain significance2240595042240595042Human1name
156247122CV2202831single nucleotide variantNM_023083.4(CAPN10):c.1292G>A (p.Arg431Gln)Inborn genetic diseases [RCV002668152]uncertain significance2240596332240596332Human1name
156147013CV2212805single nucleotide variantNM_023083.4(CAPN10):c.1849C>T (p.Leu617Phe)Inborn genetic diseases [RCV002697407]uncertain significance2240597993240597993Human1name
156329871CV2213923single nucleotide variantNM_023083.4(CAPN10):c.1580A>G (p.Gln527Arg)Inborn genetic diseases [RCV002673177]uncertain significance2240596779240596779Human1name
156240151CV2221310single nucleotide variantNM_023083.4(CAPN10):c.1451G>C (p.Arg484Pro)Inborn genetic diseases [RCV002713323]uncertain significance2240596491240596491Human1name
156127883CV2223854single nucleotide variantNM_023083.4(CAPN10):c.1583C>A (p.Thr528Lys)Inborn genetic diseases [RCV002708268]uncertain significance2240596782240596782Human1name
155921909CV2240597single nucleotide variantNM_023083.4(CAPN10):c.1531G>A (p.Ala511Thr)Inborn genetic diseases [RCV002773116]likely benign2240596730240596730Human1name
155991371CV2256438single nucleotide variantNM_023083.4(CAPN10):c.1504A>G (p.Asn502Asp)Inborn genetic diseases [RCV002793704]uncertain significance2240596703240596703Human1name
156275092CV2279908single nucleotide variantNM_023083.4(CAPN10):c.1825G>A (p.Ala609Thr)Inborn genetic diseases [RCV002832550]uncertain significance2240597969240597969Human1name
155905226CV2285907single nucleotide variantNM_023083.4(CAPN10):c.1040T>C (p.Val347Ala)Inborn genetic diseases [RCV002837113]uncertain significance2240595066240595066Human1name
156192752CV2289458single nucleotide variantNM_023083.4(CAPN10):c.1304C>T (p.Pro435Leu)Inborn genetic diseases [RCV002874341]uncertain significance2240596344240596344Human1name
156092875CV2309890single nucleotide variantNM_023083.4(CAPN10):c.1697G>A (p.Arg566Gln)Inborn genetic diseases [RCV002888130]likely benign2240596896240596896Human1name
155966409CV2329797single nucleotide variantNM_023083.4(CAPN10):c.1640C>T (p.Ser547Leu)Inborn genetic diseases [RCV002945392]uncertain significance2240596839240596839Human1name
156362659CV2330294single nucleotide variantNM_023083.4(CAPN10):c.1669G>A (p.Val557Ile)Inborn genetic diseases [RCV002941582]uncertain significance2240596868240596868Human1name
156042098CV2342198single nucleotide variantNM_023083.4(CAPN10):c.1183C>T (p.Arg395Trp)Inborn genetic diseases [RCV002977279]uncertain significance2240595209240595209Human1name
156054344CV2344625single nucleotide variantNM_023083.4(CAPN10):c.1895C>T (p.Pro632Leu)Inborn genetic diseases [RCV002977978]uncertain significance2240598039240598039Human1name
156097856CV2392736single nucleotide variantNM_023083.4(CAPN10):c.1078G>A (p.Gly360Ser)Inborn genetic diseases [RCV002784723]uncertain significance2240595104240595104Human1name
156196098CV2400584single nucleotide variantNM_023083.4(CAPN10):c.1465G>A (p.Gly489Arg)Inborn genetic diseases [RCV002789474]uncertain significance2240596505240596505Human1name
156198510CV2400871single nucleotide variantNM_023083.4(CAPN10):c.1166C>T (p.Ala389Val)Inborn genetic diseases [RCV002789618]uncertain significance2240595192240595192Human1name
329372961CV2428726single nucleotide variantNM_023083.4(CAPN10):c.1559G>A (p.Arg520Gln)Inborn genetic diseases [RCV003184981]likely benign2240596758240596758Human1name
329359106CV2450845single nucleotide variantNM_023083.4(CAPN10):c.1723A>G (p.Ile575Val)Inborn genetic diseases [RCV003204315]uncertain significance2240596922240596922Human1name
329374753CV2470705single nucleotide variantNM_023083.4(CAPN10):c.1028C>T (p.Pro343Leu)Inborn genetic diseases [RCV003210915]uncertain significance2240595054240595054Human1name
329393569CV2471970single nucleotide variantNM_023083.4(CAPN10):c.1217C>T (p.Ser406Leu)Inborn genetic diseases [RCV003218351]uncertain significance2240595243240595243Human1name
401732491CV2691023single nucleotide variantNM_023083.4(CAPN10):c.1019G>A (p.Arg340Gln)Inborn genetic diseases [RCV003290197]likely benign2240595045240595045Human1name
401728675CV2693724single nucleotide variantNM_023083.4(CAPN10):c.1951A>G (p.Ile651Val)Inborn genetic diseases [RCV003270685]uncertain significance2240598359240598359Human1name
401748887CV2708394single nucleotide variantNM_023083.4(CAPN10):c.1267C>T (p.His423Tyr)Inborn genetic diseases [RCV003294771]uncertain significance2240595293240595293Human1name
401870099CV2772618single nucleotide variantNM_023083.4(CAPN10):c.1357C>T (p.Arg453Trp)Inborn genetic diseases [RCV003346015]uncertain significance2240596397240596397Human1name
401905110CV2800386single nucleotide variantNM_023083.4(CAPN10):c.1184G>A (p.Arg395Gln)CAPN10-related disorder [RCV004548644]uncertain significance2240595210240595210Humanname , trait , alternate_id
405768520CV3298858single nucleotide variantNM_023083.4(CAPN10):c.1886C>T (p.Thr629Ile)Inborn genetic diseases [RCV004434873]uncertain significance2240598030240598030Human1name
405768525CV3298859single nucleotide variantNM_023083.4(CAPN10):c.1916C>T (p.Thr639Ile)Inborn genetic diseases [RCV004434874]uncertain significance2240598060240598060Human1name
407474949CV3424604single nucleotide variantNM_023083.4(CAPN10):c.1009T>A (p.Cys337Ser)Inborn genetic diseases [RCV004600752]uncertain significance2240595035240595035Human1name
407474956CV3424607single nucleotide variantNM_023083.4(CAPN10):c.1529C>T (p.Pro510Leu)Inborn genetic diseases [RCV004600756]uncertain significance2240596728240596728Human1name
408369363CV3508348single nucleotide variantNM_023083.4(CAPN10):c.1097A>C (p.Lys366Thr)CAPN10-related disorder [RCV004736766]uncertain significance2240595123240595123Humanname , trait , alternate_id
597645260CV3647670single nucleotide variantNM_023083.4(CAPN10):c.1111G>A (p.Val371Ile)Inborn genetic diseases [RCV004972580]uncertain significance2240595137240595137Human1name
597645275CV3647673single nucleotide variantNM_023083.4(CAPN10):c.1796C>T (p.Pro599Leu)Inborn genetic diseases [RCV004972583]uncertain significance2240597940240597940Human1name
597645282CV3647674single nucleotide variantNM_023083.4(CAPN10):c.1841G>A (p.Arg614Gln)Inborn genetic diseases [RCV004972584]likely benign2240597985240597985Human1name
597645289CV3647675single nucleotide variantNM_023083.4(CAPN10):c.1042A>G (p.Lys348Glu)Inborn genetic diseases [RCV004972585]uncertain significance2240595068240595068Human1name
597645290CV3647676single nucleotide variantNM_023083.4(CAPN10):c.1373G>A (p.Arg458His)Inborn genetic diseases [RCV004972586]uncertain significance2240596413240596413Human1name
597645301CV3647678single nucleotide variantNM_023083.4(CAPN10):c.1666T>A (p.Cys556Ser)Inborn genetic diseases [RCV004972588]uncertain significance2240596865240596865Human1name
597645307CV3647679single nucleotide variantNM_023083.4(CAPN10):c.1291C>T (p.Arg431Trp)Inborn genetic diseases [RCV004972589]uncertain significance2240596331240596331Human1name
597645314CV3647680single nucleotide variantNM_023083.4(CAPN10):c.1753G>A (p.Gly585Ser)Inborn genetic diseases [RCV004972590]uncertain significance2240597897240597897Human1name
597645322CV3647682single nucleotide variantNM_023083.4(CAPN10):c.1876G>A (p.Val626Met)Inborn genetic diseases [RCV004972592]uncertain significance2240598020240598020Human1name
598209828CV3894983single nucleotide variantNM_023083.4(CAPN10):c.1576G>A (p.Gly526Ser)CAPN10-related disorder [RCV005358447]uncertain significance2240596775240596775Humanname , trait , alternate_id
598163743CV3943128single nucleotide variantNM_023083.4(CAPN10):c.1469G>A (p.Arg490Gln)Inborn genetic diseases [RCV005307429]uncertain significance2240596509240596509Human1name
598212829CV3943132single nucleotide variantNM_023083.4(CAPN10):c.1927G>A (p.Ala643Thr)Inborn genetic diseases [RCV005316224]uncertain significance2240598071240598071Human1name
598163762CV3943133single nucleotide variantNM_023083.4(CAPN10):c.1021G>A (p.Ala341Thr)Inborn genetic diseases [RCV005307433]uncertain significance2240595047240595047Human1name
598163765CV3943135single nucleotide variantNM_023083.4(CAPN10):c.1468C>G (p.Arg490Gly)Inborn genetic diseases [RCV005307434]uncertain significance2240596508240596508Human1name
15098777CV697466single nucleotide variantNM_023083.4(CAPN10):c.1429G>A (p.Ala477Thr)not provided [RCV000958636]benign2240596469240596469Humanname
15122724CV708145single nucleotide variantNM_023083.4(CAPN10):c.1420C>A (p.Leu474Met)not provided [RCV000963117]benign2240596460240596460Humanname
15165297CV708146single nucleotide variantNM_023083.4(CAPN10):c.1838G>A (p.Ser613Asn)not provided [RCV000970919]likely benign2240597982240597982Humanname
15105990CV719751single nucleotide variantNM_023083.4(CAPN10):c.1378G>A (p.Glu460Lys)CAPN10-related disorder [RCV004551671]|not provided [RCV000893187]benign2240596418240596418Human1name , trait , alternate_id
15166996CV733327single nucleotide variantNM_023083.4(CAPN10):c.1663C>T (p.Arg555Cys)CAPN10-related disorder [RCV004551742]|not provided [RCV000904559]likely benign2240596862240596862Human1name , trait , alternate_id
15188403CV733329single nucleotide variantNM_023083.4(CAPN10):c.1745T>C (p.Val582Ala)CAPN10-related disorder [RCV004551772]|not provided [RCV000909359]benign|likely benign2240597889240597889Human1name , trait , alternate_id
40886535CV973290duplicationNM_023083.4(CAPN10):c.837_858dup (p.Ala287fs)Inborn genetic diseases [RCV001265658]pathogenic2240594547240594548Human1name