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Pathways
Variants search result for All species
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197 records found for search term Nono
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
156439032CV1943897single nucleotide variantNM_007363.5(NONO):c.944-7T>Gnot provided [RCV003108985]likely benignX7129737071297370Humanname
402499259CV2946853deletionNM_007363.5(NONO):c.944-3delnot provided [RCV003661436]benignX7129736871297368Humanname
405246528CV3048136duplicationNM_007363.5(NONO):c.944-3dupnot provided [RCV003720558]benignX7129736771297368Humanname
597961418CV3794923single nucleotide variantNM_007363.5(NONO):c.154+7A>Gnot provided [RCV005138828]uncertain significanceX7129079871290798Humanname
597916717CV3811050single nucleotide variantNM_007363.5(NONO):c.747-7C>Tnot provided [RCV005155085]likely benignX7129684471296844Humanname
597894136CV3857153single nucleotide variantNM_007363.5(NONO):c.651-9T>Cnot provided [RCV005201016]likely benignX7129655671296556Humanname
15173191CV745475single nucleotide variantNM_007363.5(NONO):c.650+7G>Anot provided [RCV000905815]benignX7129453571294535Humanname
28877613CV861587single nucleotide variantNM_007363.5(NONO):c.651-1G>CSyndromic X-linked intellectual disability 34 [RCV001095666]likely pathogenicX7129656471296564Human1name
127230312CV1087118single nucleotide variantNM_007363.5(NONO):c.1131+1G>ASee cases [RCV001420234]pathogenicX7129793971297939Humanname
150506869CV1226451single nucleotide variantNM_007363.5(NONO):c.747-10T>Cnot provided [RCV001635819]benignX7129684171296841Humanname
152039732CV1617297single nucleotide variantNM_007363.5(NONO):c.1131+8T>Cnot provided [RCV002087778]benign|likely benignX7129794671297946Humanname
152048381CV1622928single nucleotide variantNM_007363.5(NONO):c.154+11G>CSyndromic X-linked intellectual disability 34 [RCV002507997]|not provided [RCV002126922]benign|likely benignX7129080271290802Human1name
11345098CV236862single nucleotide variantNM_007363.5(NONO):c.1171+1G>TSyndromic X-linked intellectual disability 34 [RCV000223722]pathogenicX7129850971298509Human1name
156451220CV2402609single nucleotide variantNM_007363.5(NONO):c.1131+5A>Gnot specified [RCV003123415]uncertain significanceX7129794371297943Humanname
405156584CV2956530single nucleotide variantNM_007363.5(NONO):c.348+14G>Cnot provided [RCV003674382]likely benignX7129198671291986Humanname
405254231CV3055138single nucleotide variantNM_007363.5(NONO):c.1029-8C>TNONO-related disorder [RCV004750420]|not provided [RCV003722913]benign|likely benignX7129782871297828Human1name , trait , alternate_id
405198280CV3132149single nucleotide variantNM_007363.5(NONO):c.943+18A>Cnot provided [RCV003821742]benignX7129706571297065Humanname
407429216CV3413603single nucleotide variantNM_007363.5(NONO):c.1132-1G>ASyndromic X-linked intellectual disability 34 [RCV004595012]likely pathogenicX7129846871298468Human1name
597918753CV3737879single nucleotide variantNM_007363.5(NONO):c.1028+3A>Gnot provided [RCV005074478]uncertain significanceX7129746471297464Humanname
597882680CV3745056single nucleotide variantNM_007363.5(NONO):c.747-19C>Tnot provided [RCV005070081]likely benignX7129683271296832Humanname
597847656CV3746383single nucleotide variantNM_007363.5(NONO):c.746+18A>Gnot provided [RCV005060201]likely benignX7129667871296678Humanname
597956113CV3754539single nucleotide variantNM_007363.5(NONO):c.348+11G>Anot provided [RCV005080389]likely benignX7129198371291983Humanname
597839913CV3756001single nucleotide variantNM_007363.5(NONO):c.349-14C>Tnot provided [RCV005086273]benignX7129421371294213Humanname
597853933CV3821608duplicationNM_007363.5(NONO):c.650+18dupnot provided [RCV005174086]likely benignX7129454271294543Humanname
597970641CV3832564single nucleotide variantNM_007363.5(NONO):c.154+11G>Anot provided [RCV005166643]likely benignX7129080271290802Humanname
15148897CV745421single nucleotide variantNM_007363.5(NONO):c.1029-4G>Cnot provided [RCV000900817]benign|likely benignX7129783271297832Humanname
15183237CV745422duplicationNM_007363.5(NONO):c.1282-2dupNONO-related disorder [RCV003958263]|not provided [RCV000908015]benign|likely benignX7129993871299939Human1name , trait , alternate_id
150456540CV1235221single nucleotide variantNM_007363.5(NONO):c.154+150G>Cnot provided [RCV001648637]benignX7129094171290941Humanname
150506932CV1242334single nucleotide variantNM_007363.5(NONO):c.1132-73T>Cnot provided [RCV001658689]benignX7129839671298396Humanname
150442111CV1246839single nucleotide variantNM_007363.5(NONO):c.650+187G>Cnot provided [RCV001666493]benignX7129471571294715Humanname
152135553CV1664236single nucleotide variantNM_007363.5(NONO):c.1029-15G>Anot provided [RCV002156088]benignX7129782171297821Humanname
155266618CV1699185microsatelliteNM_007363.5(NONO):c.154+1GT[2]Syndromic X-linked intellectual disability 34 [RCV002282980]pathogenicX7129079271290793Humanname
156206395CV2011270duplicationNM_007363.5(NONO):c.1132-10dupnot provided [RCV002700461]benignX7129845371298454Humanname
402483702CV2937633single nucleotide variantNM_007363.5(NONO):c.1171+12G>Anot provided [RCV003659880]likely benignX7129852071298520Humanname
405133048CV2959304single nucleotide variantNM_007363.5(NONO):c.1281+20T>Gnot provided [RCV003668550]likely benignX7129883671298836Humanname
405216588CV3143413single nucleotide variantNM_007363.5(NONO):c.1172-14C>Tnot provided [RCV003846577]likely benignX7129869371298693Humanname
405158576CV3159816single nucleotide variantNM_007363.5(NONO):c.1028+12C>Tnot provided [RCV003856887]likely benignX7129747371297473Humanname
15126646CV760901single nucleotide variantNM_007363.5(NONO):c.1281+10C>Tnot provided [RCV000919362]likely benignX7129882671298826Humanname
152113054CV1640739microsatelliteNM_007363.5(NONO):c.1282-19CT[2]not provided [RCV002174575]benignX7129992371299924Humanname
150451761CV1207268deletionNM_007363.5(NONO):c.322_348+280delSyndromic X-linked intellectual disability 34 [RCV001582398]likely pathogenicX7129194671292252Human1name
405654600CV3228268deletionNM_007363.5(NONO):c.332_348+280delSyndromic X-linked intellectual disability 34 [RCV003995003]likely pathogenicX7129195671292252Human1name
597975052CV3832194microsatelliteNM_007363.5(NONO):c.651-8_651-5delnot provided [RCV005168930]likely benignX7129655271296555Humanname
156435667CV2402954deletionNM_007363.5(NONO):c.348+2_348+15delNon-ossifying fibromas with pathologic factures and X-linked intellectual disability [RCV003126382]pathogenicX7129197071291983Humanname
405138792CV2903573deletionNM_007363.5(NONO):c.1282-9_1282-4delnot provided [RCV003560676]uncertain significanceX7129993071299935Humanname
597931155CV3745926deletionNM_007363.5(NONO):c.944-18_944-15delnot provided [RCV005075912]likely benignX7129735971297362Humanname
15140737CV758642single nucleotide variantNM_007363.5(NONO):c.60T>C (p.His20=)not provided [RCV000921725]likely benignX7129069771290697Humanname
150536218CV1298483deletionNM_007363.5(NONO):c.1172-11_1172-9delnot provided [RCV001760631]conflicting interpretations of pathogenicity|uncertain significanceX7129869671298698Humanname
156265362CV1973842single nucleotide variantNM_007363.5(NONO):c.249C>T (p.Pro83=)not provided [RCV002597917]likely benignX7129187371291873Humanname
155948121CV2068954single nucleotide variantNM_007363.5(NONO):c.198A>G (p.Gly66=)not provided [RCV002862195]likely benignX7129182271291822Humanname
156225659CV2088718single nucleotide variantNM_007363.5(NONO):c.126T>C (p.Pro42=)not provided [RCV002876041]likely benignX7129076371290763Humanname
405869457CV2832000single nucleotide variantNM_007363.5(NONO):c.14A>T (p.Lys5Ile)not provided [RCV004573012]uncertain significanceX7129065171290651Humanname
405853539CV3392829single nucleotide variantNM_007363.5(NONO):c.153A>G (p.Gln51=)not specified [RCV004526555]uncertain significanceX7129079071290790Humanname
596930194CV3531418insertionNM_007363.5(NONO):c.1281+3_1281+4insTnot provided [RCV004779992]uncertain significanceX7129881971298820Humanname
15184352CV743463single nucleotide variantNM_007363.5(NONO):c.201G>A (p.Glu67=)not provided [RCV000908259]likely benignX7129182571291825Humanname
150536217CV1298472single nucleotide variantNM_007363.5(NONO):c.64C>T (p.His22Tyr)not provided [RCV001760620]uncertain significanceX7129070171290701Humanname
152123791CV1587309single nucleotide variantNM_007363.5(NONO):c.363A>G (p.Leu121=)not provided [RCV002136053]benignX7129424171294241Humanname
156359129CV1904188single nucleotide variantNM_007363.5(NONO):c.447C>T (p.Ser149=)not provided [RCV002581604]benign|likely benignX7129432571294325Humanname
156411299CV1977094single nucleotide variantNM_007363.5(NONO):c.636C>T (p.Ser212=)not provided [RCV002608213]likely benignX7129451471294514Humanname
156188271CV1997911single nucleotide variantNM_007363.5(NONO):c.378A>G (p.Lys126=)not provided [RCV002643235]likely benignX7129425671294256Humanname
156079474CV2083619single nucleotide variantNM_007363.5(NONO):c.906T>G (p.Ala302=)not provided [RCV002847336]likely benignX7129701071297010Humanname
156330192CV2180930single nucleotide variantNM_007363.5(NONO):c.690A>G (p.Leu230=)not provided [RCV003047163]likely benignX7129660471296604Humanname
405070729CV2875762single nucleotide variantNM_007363.5(NONO):c.909A>C (p.Ala303=)not provided [RCV003548419]likely benignX7129701371297013Humanname
402484275CV3036798single nucleotide variantNM_007363.5(NONO):c.825T>C (p.Ile275=)not provided [RCV003713147]likely benignX7129692971296929Humanname
405089600CV3044690single nucleotide variantNM_007363.5(NONO):c.642G>C (p.Leu214=)not provided [RCV003717724]benignX7129452071294520Humanname
405206546CV3064344single nucleotide variantNM_007363.5(NONO):c.864C>T (p.Asn288=)not provided [RCV003731382]benignX7129696871296968Humanname
405052105CV3138089single nucleotide variantNM_007363.5(NONO):c.543G>C (p.Val181=)not provided [RCV003832127]likely benignX7129442171294421Humanname
597914389CV3851101single nucleotide variantNM_007363.5(NONO):c.972G>T (p.Arg324=)not provided [RCV005204069]likely benignX7129740571297405Humanname
598207053CV4000664single nucleotide variantNM_007363.5(NONO):c.651A>G (p.Thr217=)Inborn genetic diseases [RCV005377039]likely benignX7129656571296565Human1name
14705923CV650198deletionNM_007363.5(NONO):c.245del (p.Pro82fs)not provided [RCV000802533]pathogenicX7129186871291868Humanname
15116536CV743464single nucleotide variantNM_007363.5(NONO):c.582G>A (p.Glu194=)not provided [RCV000895219]likely benignX7129446071294460Humanname
15134666CV758643single nucleotide variantNM_007363.5(NONO):c.573C>T (p.Gly191=)not provided [RCV000920725]benignX7129445171294451Humanname
15145116CV758644single nucleotide variantNM_007363.5(NONO):c.765C>T (p.Pro255=)not provided [RCV000922486]likely benignX7129686971296869Humanname
21074818CV798822deletionNM_007363.5(NONO):c.107del (p.Pro36fs)Syndromic X-linked intellectual disability 34 [RCV000995589]pathogenicX7129074371290743Human1name
150536911CV1303920single nucleotide variantNM_007363.5(NONO):c.104A>C (p.Gln35Pro)not provided [RCV001764023]uncertain significanceX7129074171290741Humanname
150539191CV1305069single nucleotide variantNM_007363.5(NONO):c.105G>T (p.Gln35His)not provided [RCV001765849]uncertain significanceX7129074271290742Humanname
151662405CV1333091single nucleotide variantNM_007363.5(NONO):c.107C>T (p.Pro36Leu)Syndromic X-linked intellectual disability 34 [RCV001837324]uncertain significanceX7129074471290744Human1name
153348503CV1692540deletionNM_007363.5(NONO):c.710del (p.Pro237fs)Neurodevelopmental delay [RCV002274394]pathogenicX7129662371296623Human1name
155266484CV1699050single nucleotide variantNM_007363.5(NONO):c.116C>T (p.Pro39Leu)See cases [RCV003232580]|not provided [RCV003096339]|not specified [RCV002282844]uncertain significanceX7129075371290753Humanname
156396907CV1959097single nucleotide variantNM_007363.5(NONO):c.1182C>T (p.Gly394=)not provided [RCV002584448]likely benignX7129871771298717Humanname
156198703CV1968015single nucleotide variantNM_007363.5(NONO):c.196G>A (p.Gly66Arg)not provided [RCV002625653]uncertain significanceX7129182071291820Humanname
156281826CV2016379single nucleotide variantNM_007363.5(NONO):c.1263G>A (p.Pro421=)not provided [RCV002715326]likely benignX7129879871298798Humanname
156190364CV2160814single nucleotide variantNM_007363.5(NONO):c.119C>G (p.Pro40Arg)not provided [RCV003024110]uncertain significanceX7129075671290756Humanname
11039913CV223780single nucleotide variantNM_007363.5(NONO):c.1131G>A (p.Ala377=)Inborn genetic diseases [RCV001267583]|Syndromic X-linked intellectual disability 34 [RCV000207522]|not provided [RCV000306159]pathogenicX7129793871297938Human2name
401928765CV2829263single nucleotide variantNM_007363.5(NONO):c.1017A>G (p.Gln339=)not provided [RCV003439599]likely benignX7129745071297450Humanname
401963677CV2843241single nucleotide variantNM_007363.5(NONO):c.1176T>G (p.Ala392=)not specified [RCV003479583]likely benignX7129871171298711Humanname
402518106CV2874530single nucleotide variantNM_007363.5(NONO):c.1092G>A (p.Arg364=)not provided [RCV003547464]likely benignX7129789971297899Humanname
402522725CV3175758single nucleotide variantNM_007363.5(NONO):c.121A>G (p.Ile41Val)not provided [RCV003879858]uncertain significanceX7129075871290758Humanname
408377219CV3507876single nucleotide variantNM_007363.5(NONO):c.118C>T (p.Pro40Ser)NONO-related disorder [RCV004750593]uncertain significanceX7129075571290755Humanname , trait , alternate_id
597859149CV3755913single nucleotide variantNM_007363.5(NONO):c.1392C>T (p.Ala464=)not provided [RCV005089064]likely benignX7130005271300052Humanname
597847394CV3792787single nucleotide variantNM_007363.5(NONO):c.1119C>T (p.Thr373=)not provided [RCV005144923]likely benignX7129792671297926Humanname
12849749CV379411single nucleotide variantNM_007363.5(NONO):c.103C>T (p.Gln35Ter)not provided [RCV000435263]pathogenicX7129074071290740Humanname
597955316CV3796203single nucleotide variantNM_007363.5(NONO):c.1191C>T (p.Asn397=)not provided [RCV005137020]uncertain significanceX7129872671298726Humanname
13211788CV426490single nucleotide variantNM_007363.5(NONO):c.217C>T (p.Arg73Ter)not provided [RCV000497914]pathogenicX7129184171291841Humanname
13435585CV432390duplicationNM_007363.5(NONO):c.731dup (p.Asn244fs)Medulloblastoma [RCV000505623]|Syndromic X-linked intellectual disability 34 [RCV003335436]pathogenic|otherX7129663971296640Human3name
13487606CV446752single nucleotide variantNM_007363.5(NONO):c.204G>T (p.Lys68Asn)not provided [RCV000523286]uncertain significanceX7129182871291828Humanname
14691253CV622002single nucleotide variantNM_007363.5(NONO):c.142G>T (p.Ala48Ser)not provided [RCV000782035]uncertain significanceX7129077971290779Humanname
15199737CV774198single nucleotide variantNM_007363.5(NONO):c.1149G>T (p.Arg383=)not provided [RCV000935186]likely benignX7129848671298486Humanname
150532305CV1299447single nucleotide variantNM_007363.5(NONO):c.499G>T (p.Ala167Ser)not provided [RCV001752373]uncertain significanceX7129437771294377Humanname
150536939CV1305004single nucleotide variantNM_007363.5(NONO):c.880G>C (p.Glu294Gln)not provided [RCV001764126]uncertain significanceX7129698471296984Humanname
152977917CV1671276deletionNM_007363.5(NONO):c.1242del (p.Gly415fs)Syndromic X-linked intellectual disability 34 [RCV002226950]likely pathogenicX7129877771298777Human1name
153302304CV1688162single nucleotide variantNM_007363.5(NONO):c.898A>T (p.Met300Leu)not provided [RCV002265388]uncertain significanceX7129700271297002Humanname
156321858CV2022150single nucleotide variantNM_007363.5(NONO):c.910C>T (p.Arg304Cys)not provided [RCV002717145]uncertain significanceX7129701471297014Humanname
155951409CV2165027single nucleotide variantNM_007363.5(NONO):c.452C>A (p.Thr151Lys)not provided [RCV003032454]uncertain significanceX7129433071294330Humanname
11039911CV223781duplicationNM_007363.5(NONO):c.1394dup (p.Asn466fs)Syndromic X-linked intellectual disability 34 [RCV000207520]pathogenicX7130005071300051Human1name
155991749CV2276627single nucleotide variantNM_007363.5(NONO):c.806T>C (p.Met269Thr)Inborn genetic diseases [RCV002864570]likely benign|uncertain significanceX7129691071296910Human1name
243051850CV2404160single nucleotide variantNM_007363.5(NONO):c.626G>A (p.Ser209Asn)not provided [RCV003129186]uncertain significanceX7129450471294504Humanname
329402220CV2454062single nucleotide variantNM_007363.5(NONO):c.308T>C (p.Val103Ala)Inborn genetic diseases [RCV003199127]uncertain significanceX7129193271291932Human1name
401920864CV2802018single nucleotide variantNM_007363.5(NONO):c.604C>T (p.Arg202Trp)NONO-related disorder [RCV003402765]|not provided [RCV004721188]uncertain significanceX7129448271294482Human1name , trait , alternate_id
401916742CV2829467single nucleotide variantNM_007363.5(NONO):c.921C>G (p.His307Gln)not provided [RCV003443511]uncertain significanceX7129702571297025Humanname
401913058CV2830173single nucleotide variantNM_007363.5(NONO):c.860G>A (p.Arg287His)not provided [RCV003441388]uncertain significanceX7129696471296964Humanname
405164505CV2905689single nucleotide variantNM_007363.5(NONO):c.538A>G (p.Ile180Val)not provided [RCV003562630]uncertain significanceX7129441671294416Humanname
405003866CV3184510single nucleotide variantNM_007363.5(NONO):c.809G>T (p.Arg270Leu)Syndromic X-linked intellectual disability 34 [RCV003883299]uncertain significanceX7129691371296913Human1name
407424810CV3410951single nucleotide variantNM_007363.5(NONO):c.733C>G (p.Gln245Glu)not provided [RCV004588641]uncertain significanceX7129664771296647Humanname
407505684CV3496062single nucleotide variantNM_007363.5(NONO):c.911G>A (p.Arg304His)not provided [RCV004697902]uncertain significanceX7129701571297015Humanname
596923339CV3530343single nucleotide variantNM_007363.5(NONO):c.692A>G (p.Asp231Gly)not provided [RCV004776942]uncertain significanceX7129660671296606Humanname
596922784CV3537398single nucleotide variantNM_007363.5(NONO):c.376A>G (p.Lys126Glu)not provided [RCV004787368]uncertain significanceX7129425471294254Humanname
596940100CV3550786single nucleotide variantNM_007363.5(NONO):c.634T>C (p.Ser212Pro)not provided [RCV004814686]uncertain significanceX7129451271294512Humanname
597688964CV3563144single nucleotide variantNM_007363.5(NONO):c.721G>T (p.Val241Phe)Inborn genetic diseases [RCV004953824]uncertain significanceX7129663571296635Human1name
597833404CV3735567single nucleotide variantNM_007363.5(NONO):c.779C>G (p.Pro260Arg)not provided [RCV005063429]uncertain significanceX7129688371296883Humanname
597843618CV3735952single nucleotide variantNM_007363.5(NONO):c.731A>T (p.Asn244Ile)not provided [RCV005065301]uncertain significanceX7129664571296645Humanname
597942982CV3786347duplicationNM_007363.5(NONO):c.1071dup (p.Gln358fs)not provided [RCV005134038]pathogenicX7129787671297877Humanname
597968561CV3795052single nucleotide variantNM_007363.5(NONO):c.457C>G (p.Arg153Gly)not provided [RCV005141020]uncertain significanceX7129433571294335Humanname
598198146CV3892498single nucleotide variantNM_007363.5(NONO):c.481A>G (p.Asn161Asp)not provided [RCV005254331]uncertain significanceX7129435971294359Humanname
616938994CV4015322single nucleotide variantNM_007363.5(NONO):c.878G>A (p.Arg293His)not provided [RCV005412832]uncertain significanceX7129698271296982Humanname
617150090CV4017202single nucleotide variantNM_007363.5(NONO):c.463C>T (p.Leu155Phe)not provided [RCV005416859]uncertain significanceX7129434171294341Humanname
12894454CV411475deletionNM_007363.5(NONO):c.1289del (p.Pro430fs)not provided [RCV000482877]pathogenicX7129994871299948Humanname
13487160CV446753single nucleotide variantNM_007363.5(NONO):c.403C>T (p.Arg135Cys)not provided [RCV000523140]uncertain significanceX7129428171294281Humanname
13532118CV512745single nucleotide variantNM_007363.5(NONO):c.551G>C (p.Arg184Pro)Inborn genetic diseases [RCV000623934]uncertain significanceX7129442971294429Human1name
14978075CV677275single nucleotide variantNM_007363.5(NONO):c.808C>T (p.Arg270Cys)Mild global developmental delay [RCV000850284]uncertain significanceX7129691271296912Human1name
25327362CV679342single nucleotide variantNM_007363.5(NONO):c.550C>T (p.Arg184Ter)Inborn genetic diseases [RCV001265776]|Syndromic X-linked intellectual disability 34 [RCV001027402]|not provided [RCV004721649]pathogenicX7129442871294428Human2name
26898463CV822287single nucleotide variantNM_007363.5(NONO):c.457C>T (p.Arg153Ter)Syndromic X-linked intellectual disability 34 [RCV001034531]pathogenicX7129433571294335Human1name
150533717CV1301668single nucleotide variantNM_007363.5(NONO):c.1052G>A (p.Arg351His)not provided [RCV001755040]uncertain significanceX7129785971297859Humanname
150536917CV1303926single nucleotide variantNM_007363.5(NONO):c.1057G>A (p.Glu353Lys)not provided [RCV001764029]uncertain significanceX7129786471297864Humanname
151232560CV1316838single nucleotide variantNM_007363.5(NONO):c.1028G>A (p.Arg343Lys)not provided [RCV001786658]uncertain significanceX7129746171297461Humanname
155734667CV1781171single nucleotide variantNM_007363.5(NONO):c.1307G>T (p.Gly436Val)not provided [RCV002308960]uncertain significanceX7129996771299967Humanname
155796241CV1861733single nucleotide variantNM_007363.5(NONO):c.1408C>T (p.Arg470Ter)not specified [RCV002470015]uncertain significanceX7130006871300068Humanname
156321597CV1976133single nucleotide variantNM_007363.5(NONO):c.1210G>A (p.Ala404Thr)NONO-related disorder [RCV003933809]|not provided [RCV002600266]benign|likely benignX7129874571298745Human1name , trait , alternate_id
156261111CV2113729single nucleotide variantNM_007363.5(NONO):c.1391C>T (p.Ala464Val)not provided [RCV002933884]uncertain significanceX7130005171300051Humanname
11039912CV223782single nucleotide variantNM_007363.5(NONO):c.1093C>T (p.Arg365Ter)Syndromic X-linked intellectual disability 34 [RCV000207521]pathogenicX7129790071297900Human1name
155953945CV2274268single nucleotide variantNM_007363.5(NONO):c.1161G>A (p.Met387Ile)Inborn genetic diseases [RCV002840646]uncertain significanceX7129849871298498Human1name
401828046CV2744420single nucleotide variantNM_007363.5(NONO):c.1237C>T (p.Pro413Ser)not provided [RCV003327817]uncertain significanceX7129877271298772Humanname
401829562CV2747461single nucleotide variantNM_007363.5(NONO):c.1331T>C (p.Ile444Thr)not provided [RCV003328926]uncertain significanceX7129999171299991Humanname
401911882CV2795930single nucleotide variantNM_007363.5(NONO):c.1351C>T (p.Pro451Ser)Inborn genetic diseases [RCV005382630]|NONO-related disorder [RCV003399667]uncertain significanceX7130001171300011Human2name , trait , alternate_id
402512529CV2860022single nucleotide variantNM_007363.5(NONO):c.1366C>T (p.Arg456Cys)not provided [RCV003575223]uncertain significanceX7130002671300026Humanname
402513858CV2991341single nucleotide variantNM_007363.5(NONO):c.1402C>T (p.Arg468Cys)not provided [RCV003689696]uncertain significanceX7130006271300062Humanname
402509430CV2994635single nucleotide variantNM_007363.5(NONO):c.1405C>T (p.Arg469Cys)not provided [RCV003689411]uncertain significanceX7130006571300065Humanname
405204949CV3144171single nucleotide variantNM_007363.5(NONO):c.1070G>A (p.Arg357Gln)not provided [RCV003844961]uncertain significanceX7129787771297877Humanname
408377251CV3508071single nucleotide variantNM_007363.5(NONO):c.1062G>C (p.Glu354Asp)NONO-related disorder [RCV004750620]uncertain significanceX7129786971297869Humanname , trait , alternate_id
408391770CV3523393single nucleotide variantNM_007363.5(NONO):c.1147C>T (p.Arg383Trp)not provided [RCV004770767]uncertain significanceX7129848471298484Humanname
408390003CV3524872single nucleotide variantNM_007363.5(NONO):c.1198G>T (p.Ala400Ser)not provided [RCV004769767]uncertain significanceX7129873371298733Humanname
408383939CV3525879single nucleotide variantNM_007363.5(NONO):c.1139A>G (p.Gln380Arg)not specified [RCV004766789]uncertain significanceX7129847671298476Humanname
408388128CV3527372single nucleotide variantNM_007363.5(NONO):c.1252A>G (p.Thr418Ala)not provided [RCV004773675]uncertain significanceX7129878771298787Humanname
597631230CV3552652single nucleotide variantNM_007363.5(NONO):c.1289C>G (p.Pro430Arg)not provided [RCV004823352]uncertain significanceX7129994971299949Humanname
597688979CV3563142single nucleotide variantNM_007363.5(NONO):c.1372G>T (p.Ala458Ser)Inborn genetic diseases [RCV004953822]uncertain significanceX7130003271300032Human1name
597688970CV3563143single nucleotide variantNM_007363.5(NONO):c.1357G>C (p.Ala453Pro)Inborn genetic diseases [RCV004953823]uncertain significanceX7130001771300017Human1name
597843190CV3735862single nucleotide variantNM_007363.5(NONO):c.1133G>C (p.Arg378Thr)not provided [RCV005065211]uncertain significanceX7129847071298470Humanname
597907016CV3781419single nucleotide variantNM_007363.5(NONO):c.1086G>C (p.Met362Ile)not provided [RCV005128107]uncertain significanceX7129789371297893Humanname
597936365CV3807626single nucleotide variantNM_007363.5(NONO):c.1110C>G (p.Phe370Leu)not provided [RCV005158005]uncertain significanceX7129791771297917Humanname
597935502CV3863700single nucleotide variantNM_007363.5(NONO):c.1240C>T (p.Pro414Ser)not provided [RCV005207513]uncertain significanceX7129877571298775Humanname
597844946CV3880335single nucleotide variantNM_007363.5(NONO):c.1366C>A (p.Arg456Ser)not provided [RCV005227223]uncertain significanceX7130002671300026Humanname
617150368CV4019042single nucleotide variantNM_007363.5(NONO):c.1049G>A (p.Arg350His)not provided [RCV005423450]uncertain significanceX7129785671297856Humanname
12907256CV415815single nucleotide variantNM_007363.5(NONO):c.1009C>T (p.Arg337Ter)not provided [RCV000490223]pathogenicX7129744271297442Humanname
12912039CV417867single nucleotide variantNM_007363.5(NONO):c.1171G>T (p.Gly391Cys)Syndromic X-linked intellectual disability 34 [RCV000490794]pathogenicX7129850871298508Human1name
13485177CV446754single nucleotide variantNM_007363.5(NONO):c.1058A>G (p.Glu353Gly)not provided [RCV000522534]uncertain significanceX7129786571297865Humanname
15128538CV717854single nucleotide variantNM_007363.5(NONO):c.1179G>T (p.Met393Ile)not provided [RCV000964101]|not specified [RCV001819055]benign|likely benignX7129871471298714Humanname
38466253CV939676single nucleotide variantNM_007363.5(NONO):c.1271C>G (p.Thr424Ser)not provided [RCV001212756]uncertain significanceX7129880671298806Humanname
153348571CV1692608deletionNM_007363.5(NONO):c.279_282del (p.Phe94fs)Syndromic X-linked intellectual disability 34 [RCV002274463]pathogenicX7129190271291905Human1name
153348572CV1692609microsatelliteNM_007363.5(NONO):c.201_202dup (p.Lys68fs)Syndromic X-linked intellectual disability 34 [RCV002274464]pathogenicX7129182071291821Humanname
156451219CV2402608deletionNM_007363.5(NONO):c.276_288del (p.Lys92fs)Syndromic X-linked intellectual disability 34 [RCV003123414]likely pathogenicX7129189871291910Human1name
12742479CV360650deletionNM_007363.5(NONO):c.230_231del (p.Phe77fs)not provided [RCV000413763]pathogenicX7129185171291852Humanname
40814239CV966737deletionNM_007363.5(NONO):c.246_249del (p.Pro83fs)Heart, malformation of [RCV001257383]likely pathogenicX7129186871291871Human2name
150543592CV1309549deletionNM_007363.5(NONO):c.81_95del (p.23HHQQQ[1])Syndromic X-linked intellectual disability 34 [RCV003992547]|not provided [RCV003238597]uncertain significanceX7129070471290718Human1name
151729210CV1517633microsatelliteNM_007363.5(NONO):c.315_318del (p.His106fs)Syndromic X-linked intellectual disability 34 [RCV002052249]likely pathogenicX7129193471291937Humanname
155796733CV1862991deletionNM_007363.5(NONO):c.298_307del (p.Ala100fs)Syndromic X-linked intellectual disability 34 [RCV002470265]pathogenicX7129191971291928Human1name
156333913CV2061525microsatelliteNM_007363.5(NONO):c.1341TGG[1] (p.Gly449del)not provided [RCV002810832]uncertain significanceX7130000171300003Humanname
405095284CV3022906microsatelliteNM_007363.5(NONO):c.1056AGA[1] (p.Glu354del)not provided [RCV003700036]uncertain significanceX7129786171297863Humanname
597871999CV3849418microsatelliteNM_007363.5(NONO):c.1351CCT[1] (p.Pro452del)not provided [RCV005197599]uncertain significanceX7130000971300011Humanname
13484187CV446755microsatelliteNM_007363.5(NONO):c.1312GCT[3] (p.Ala439dup)Syndromic X-linked intellectual disability 34 [RCV004783800]|not provided [RCV000522264]uncertain significanceX7129997171299972Humanname
13516942CV493310microsatelliteNM_007363.5(NONO):c.1194_1195del (p.Gly399fs)not provided [RCV000596144]uncertain significanceX7129872771298728Humanname
26888754CV800680deletionNM_007363.5(NONO):c.1191_1192del (p.Asn397fs)Syndromic X-linked intellectual disability 34 [RCV001031002]likely pathogenicX7129872571298726Human1name
151824749CV1404137duplicationNM_007363.5(NONO):c.75_86dup (p.Gln25_His28dup)not provided [RCV001976080]uncertain significanceX7129070671290707Humanname
156278104CV2005058deletionNM_007363.5(NONO):c.84_95del (p.His28_Gln31del)not provided [RCV002646750]uncertain significanceX7129071371290724Humanname
597877104CV3825733deletionNM_007363.5(NONO):c.84_92del (p.His28_Gln30del)not provided [RCV005177607]likely benignX7129071671290724Humanname
40886601CV974421duplicationNM_007363.5(NONO):c.84_95dup (p.His28_Gln31dup)Inborn genetic diseases [RCV001265765]|not provided [RCV002542844]uncertain significanceX7129071271290713Human1name
329350009CV2477246microsatelliteNM_007363.5(NONO):c.75GCA[4] (p.Gln27_His28insGln)not provided [RCV003221571]uncertain significanceX7129070971290710Humanname
150530797CV1299096indelNM_007363.5(NONO):c.87_99delinsGCAGCAGCACCAC (p.His29_Gln33delinsGlnGlnGlnHisHis)not provided [RCV001756789]uncertain significanceX7129072471290736Humanname
151752618CV1512565single nucleotide variantNM_000492.4(CFTR):c.458G>A (p.Arg153Lys)Bronchiectasis with or without elevated sweat chloride 1 [RCV002479801]|CFTR-related disorder [RCV004538742]|Cystic fibrosis [RCV002043439]|Spermatogenic failure, Y-linked, 2 [RCV002287524]|not provided [RCV003481252]likely pathogenic|uncertain significance7117531083117531083Human6alternate_id
8597377CV22175single nucleotide variantNM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)Bronchiectasis with or without elevated sweat chloride 1 [RCV003473015]|Bronchiectasis with or without elevated sweat chloride 1 [RCV005042004]|CFTR-related disorder [RCV001831530]|Cystic fibrosis [RCV000007556]|Cystic fibrosis [RCV001004513]|Hereditary pancreatitis [RCV002255995]|Spermatogenic failpathogenic7117652877117652877Human6alternate_id
243061984CV2407173single nucleotide variantNM_004654.4(USP9Y):c.3835C>G (p.Leu1279Val)Spermatogenic failure, Y-linked, 2 [RCV003139256]uncertain significanceY1279305312793053Human1alternate_id
243061985CV2407174single nucleotide variantNM_004654.4(USP9Y):c.5924C>T (p.Thr1975Ile)Spermatogenic failure, Y-linked, 2 [RCV003139257]uncertain significanceY1284045012840450Human1alternate_id
8561119CV24796microsatelliteNM_004654.4(USP9Y):c.773+3_773+6delSpermatogenic failure, Y-linked, 2 [RCV000010411]pathogenicY1273572512735728Humanalternate_id
401915508CV2795268single nucleotide variantNM_004654.4(USP9Y):c.6343G>T (p.Gly2115Cys)Spermatogenic failure, Y-linked, 2 [RCV003389101]uncertain significanceY1284237012842370Human1alternate_id
596927537CV3541118duplicationNM_004654.4(USP9Y):c.6845dup (p.Arg2283fs)Spermatogenic failure, Y-linked, 2 [RCV004796989]uncertain significanceY1284702212847023Human1alternate_id
596927540CV3541119deletionNM_004654.4(USP9Y):c.1774del (p.Gln592fs)Spermatogenic failure, Y-linked, 2 [RCV004796990]uncertain significanceY1276049112760491Human1alternate_id
596925741CV3542191single nucleotide variantNM_004654.4(USP9Y):c.3842T>C (p.Val1281Ala)Spermatogenic failure, Y-linked, 2 [RCV004795909]uncertain significanceY1279306012793060Human1alternate_id
596926745CV3542271single nucleotide variantNM_004654.4(USP9Y):c.1256G>A (p.Arg419His)Spermatogenic failure, Y-linked, 2 [RCV004796486]uncertain significanceY1273824812738248Human1alternate_id
8561120CV24797deletionUSP9Y, DELHypospermatogenesis, nonobstructive, Y-linked [RCV000010412]pathogenicHuman1trait