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


131 records found for search term Rlim
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
152154582CV1667936single nucleotide variantNM_016120.4(RLIM):c.*1380C>Tnot provided [RCV002221829]uncertain significanceX7459006074590060Humanname
401928918CV2829322single nucleotide variantNM_016120.4(RLIM):c.169+6C>Tnot provided [RCV003439658]likely benignX7459580374595803Humanname
596943815CV3544394single nucleotide variantNM_016120.4(RLIM):c.170-19C>Tnot specified [RCV004800874]likely benignX7459440874594408Humanname
408380561CV3520781microsatelliteNM_183353.2(RLIM):c.257_259delnot provided [RCV004761614]uncertain significanceX7459305674593058Humanname
13462797CV439348deletionNM_016120.4(RLIM):c.-23-12_-23-11delnot provided [RCV000514839]likely benignX7459601174596012Humanname
15163034CV717865single nucleotide variantNM_016120.4(RLIM):c.66G>A (p.Gln22=)not provided [RCV000970395]benignX7459591274595912Humanname
598176752CV4008181single nucleotide variantNM_016120.4(RLIM):c.17C>T (p.Ser6Phe)Intellectual disability, X-linked 61 [RCV005393697]likely benignX7459596174595961Human1name
15154815CV717864single nucleotide variantNM_016120.4(RLIM):c.240A>C (p.Ser80=)not provided [RCV000968807]benignX7459431974594319Humanname
150548971CV1294001single nucleotide variantNM_016120.4(RLIM):c.83G>A (p.Arg28Gln)not provided [RCV001764841]uncertain significanceX7459589574595895Humanname
9687165CV171693deletionNM_016120.4(RLIM):c.260del (p.Asp87fs)Prostate cancer [RCV000149384]uncertain significanceX7459305574593055Human2name
329848851CV2523600single nucleotide variantNM_016120.4(RLIM):c.74G>T (p.Arg25Leu)Intellectual disability, X-linked 61 [RCV003225614]uncertain significanceX7459590474595904Human1name
405273936CV3194907single nucleotide variantNM_016120.4(RLIM):c.85G>C (p.Glu29Gln)RLIM-related disorder [RCV003902149]uncertain significanceX7459589374595893Humanname , trait , alternate_id
408391857CV3523472single nucleotide variantNM_016120.4(RLIM):c.69G>A (p.Met23Ile)not provided [RCV004770846]uncertain significanceX7459590974595909Humanname
617150390CV4019028single nucleotide variantNM_016120.4(RLIM):c.82C>G (p.Arg28Gly)not provided [RCV005423436]uncertain significanceX7459589674595896Humanname
13518446CV492707single nucleotide variantNM_016120.4(RLIM):c.777G>A (p.Thr259=)not provided [RCV000884376]|not specified [RCV000597432]benign|likely benignX7459253874592538Humanname
127243516CV1086838single nucleotide variantNM_016120.4(RLIM):c.1389C>A (p.Ser463=)not provided [RCV001393536]likely benignX7459192674591926Humanname
127294870CV1150942single nucleotide variantNM_016120.4(RLIM):c.1413A>T (p.Ser471=)Inborn genetic diseases [RCV005271330]|not provided [RCV001497095]likely benignX7459190274591902Human1name
150429458CV1189250single nucleotide variantNM_016120.4(RLIM):c.230C>T (p.Pro77Leu)RLIM-related syndromic intellectual disability [RCV001563635]|not provided [RCV003312009]uncertain significanceX7459432974594329Human1name , trait
155945369CV1935588single nucleotide variantNM_016120.4(RLIM):c.274G>C (p.Val92Leu)not provided [RCV002511336]likely benign|uncertain significanceX7459304174593041Humanname
329351103CV2477932single nucleotide variantNM_016120.4(RLIM):c.191T>G (p.Leu64Trp)not provided [RCV003224045]uncertain significanceX7459436874594368Humanname
401796439CV2740625single nucleotide variantNM_016120.4(RLIM):c.226C>A (p.Pro76Thr)not provided [RCV003321295]uncertain significanceX7459433374594333Humanname
401830113CV2744098single nucleotide variantNM_016120.4(RLIM):c.1455T>C (p.Ser485=)not provided [RCV003327243]likely benignX7459186074591860Humanname
401928912CV2829320single nucleotide variantNM_016120.4(RLIM):c.1431T>G (p.Pro477=)not provided [RCV003439656]likely benignX7459188474591884Humanname
401928915CV2829321single nucleotide variantNM_016120.4(RLIM):c.292A>C (p.Ile98Leu)Inborn genetic diseases [RCV004364653]|not provided [RCV003439657]likely benignX7459302374593023Human1name
407456700CV3415956single nucleotide variantNM_016120.4(RLIM):c.1194A>G (p.Thr398=)not provided [RCV004598833]likely benignX7459212174592121Humanname
408389339CV3529340single nucleotide variantNM_016120.4(RLIM):c.290C>G (p.Ser97Cys)not provided [RCV004774162]uncertain significanceX7459302574593025Humanname
596945078CV3543705single nucleotide variantNM_016120.4(RLIM):c.147T>G (p.Asp49Glu)not provided [RCV004801827]uncertain significanceX7459583174595831Humanname
598127420CV3888181single nucleotide variantNM_016120.4(RLIM):c.1359T>C (p.Ser453=)not provided [RCV005242867]likely benignX7459195674591956Humanname
598176451CV3891145single nucleotide variantNM_016120.4(RLIM):c.257G>A (p.Gly86Glu)not provided [RCV005251998]uncertain significanceX7459305874593058Humanname
13446227CV438454single nucleotide variantNM_016120.4(RLIM):c.141G>A (p.Met47Ile)not provided [RCV000513445]uncertain significanceX7459583774595837Humanname
13706472CV537575single nucleotide variantNM_016120.4(RLIM):c.223C>G (p.Pro75Ala)Intellectual disability, X-linked 61 [RCV004723043]|not provided [RCV000659166]likely benign|uncertain significanceX7459433674594336Human1name
15185901CV706314single nucleotide variantNM_016120.4(RLIM):c.1395G>C (p.Ser465=)not provided [RCV000953121]likely benignX7459192074591920Humanname
15170355CV706315single nucleotide variantNM_016120.4(RLIM):c.1395G>A (p.Ser465=)not provided [RCV000949635]benignX7459192074591920Humanname
15201356CV758652single nucleotide variantNM_016120.4(RLIM):c.1515A>C (p.Ser505=)not provided [RCV000913114]likely benignX7459180074591800Humanname
41408262CV980821single nucleotide variantNM_016120.4(RLIM):c.131A>G (p.Tyr44Cys)Intellectual disability, X-linked 61 [RCV003333147]|not provided [RCV001281645]likely pathogenic|uncertain significanceX7459584774595847Human1name
126726670CV1019066single nucleotide variantNM_016120.4(RLIM):c.736A>G (p.Ile246Val)Inborn genetic diseases [RCV004035729]|Intellectual disability, X-linked 61 [RCV001332108]uncertain significanceX7459257974592579Human2name
127230272CV1087120single nucleotide variantNM_016120.4(RLIM):c.366G>C (p.Trp122Cys)See cases [RCV001420213]likely pathogenicX7459294974592949Humanname
150338601CV1174406single nucleotide variantNM_016120.4(RLIM):c.992G>A (p.Gly331Glu)Intellectual disability, X-linked 61 [RCV001542628]likely pathogenicX7459232374592323Human1name
150426075CV1185857single nucleotide variantNM_016120.4(RLIM):c.656G>A (p.Arg219Gln)not provided [RCV001558875]uncertain significanceX7459265974592659Humanname
150419541CV1199541single nucleotide variantNM_016120.4(RLIM):c.388C>A (p.Pro130Thr)not provided [RCV001577224]uncertain significanceX7459292774592927Humanname
150530899CV1299170single nucleotide variantNM_016120.4(RLIM):c.496G>A (p.Glu166Lys)not provided [RCV001756863]uncertain significanceX7459281974592819Humanname
150527937CV1300950single nucleotide variantNM_016120.4(RLIM):c.433C>T (p.Arg145Cys)not provided [RCV001754810]uncertain significanceX7459288274592882Humanname
152034039CV1669088single nucleotide variantNM_016120.4(RLIM):c.796C>T (p.Arg266Trp)not provided [RCV002223432]uncertain significanceX7459251974592519Humanname
153001445CV1680008single nucleotide variantNM_016120.4(RLIM):c.443G>T (p.Gly148Val)not provided [RCV002251687]uncertain significanceX7459287274592872Humanname
156148065CV2197003single nucleotide variantNM_016120.4(RLIM):c.587C>T (p.Thr196Ile)Inborn genetic diseases [RCV002641698]likely benignX7459272874592728Human1name
156143889CV2268826single nucleotide variantNM_016120.4(RLIM):c.703A>G (p.Met235Val)Inborn genetic diseases [RCV002826370]uncertain significanceX7459261274592612Human1name
156451026CV2402403single nucleotide variantNM_016120.4(RLIM):c.379C>T (p.Arg127Trp)not provided [RCV003123202]uncertain significanceX7459293674592936Humanname
243051490CV2404087single nucleotide variantNM_016120.4(RLIM):c.583T>C (p.Ser195Pro)not provided [RCV003128942]uncertain significanceX7459273274592732Humanname
243060185CV2413754single nucleotide variantNM_016120.4(RLIM):c.507A>C (p.Glu169Asp)Intellectual disability, X-linked 61 [RCV003135774]uncertain significanceX7459280874592808Human1name
243060211CV2413756single nucleotide variantNM_016120.4(RLIM):c.826T>C (p.Ser276Pro)Intellectual disability, X-linked 61 [RCV003135776]uncertain significanceX7459248974592489Human1name
243053709CV2418252single nucleotide variantNM_016120.4(RLIM):c.493G>A (p.Gly165Arg)not provided [RCV003154321]uncertain significanceX7459282274592822Humanname
401755974CV2686194single nucleotide variantNM_016120.4(RLIM):c.539G>T (p.Arg180Leu)Inborn genetic diseases [RCV003255446]uncertain significanceX7459277674592776Human1name
401751580CV2727054single nucleotide variantNM_016120.4(RLIM):c.925T>C (p.Ser309Pro)Inborn genetic diseases [RCV003295544]uncertain significanceX7459239074592390Human1name
401917331CV2829802single nucleotide variantNM_016120.4(RLIM):c.670A>G (p.Arg224Gly)not provided [RCV003443846]uncertain significanceX7459264574592645Humanname
404985889CV2852377single nucleotide variantNM_016120.4(RLIM):c.485G>A (p.Arg162His)Inborn genetic diseases [RCV005273708]|not specified [RCV003489613]uncertain significanceX7459283074592830Human1name
405753159CV3316212single nucleotide variantNM_016120.4(RLIM):c.512A>G (p.Asn171Ser)Inborn genetic diseases [RCV004454097]uncertain significanceX7459280374592803Human1name
405753164CV3316213single nucleotide variantNM_016120.4(RLIM):c.586A>G (p.Thr196Ala)Inborn genetic diseases [RCV004454098]uncertain significanceX7459272974592729Human1name
407426850CV3411650single nucleotide variantNM_016120.4(RLIM):c.704T>G (p.Met235Arg)not provided [RCV004590828]uncertain significanceX7459261174592611Humanname
408367084CV3512943single nucleotide variantNM_016120.4(RLIM):c.497A>G (p.Glu166Gly)RLIM-related disorder [RCV004757814]uncertain significanceX7459281874592818Humanname , trait , alternate_id
408390864CV3521053single nucleotide variantNM_016120.4(RLIM):c.956T>C (p.Ile319Thr)not provided [RCV004762875]uncertain significanceX7459235974592359Humanname
408381995CV3526668single nucleotide variantNM_016120.4(RLIM):c.655C>T (p.Arg219Trp)not provided [RCV004771981]uncertain significanceX7459266074592660Humanname
596926291CV3530759single nucleotide variantNM_016120.4(RLIM):c.728A>G (p.His243Arg)not provided [RCV004778344]uncertain significanceX7459258774592587Humanname
596948270CV3549352single nucleotide variantNM_016120.4(RLIM):c.938G>C (p.Gly313Ala)not provided [RCV004812172]uncertain significanceX7459237774592377Humanname
616935351CV4015988single nucleotide variantNM_016120.4(RLIM):c.785G>A (p.Ser262Asn)not provided [RCV005414852]uncertain significanceX7459253074592530Humanname
617149668CV4017619single nucleotide variantNM_016120.4(RLIM):c.339A>C (p.Arg113Ser)not provided [RCV005417277]uncertain significanceX7459297674592976Humanname
14691267CV622004single nucleotide variantNM_016120.4(RLIM):c.659G>A (p.Arg220Lys)not provided [RCV000782041]likely pathogenicX7459265674592656Humanname
15112468CV729702single nucleotide variantNM_016120.4(RLIM):c.533A>C (p.Asn178Thr)not provided [RCV000894475]benignX7459278274592782Humanname
150555159CV1295978single nucleotide variantNM_016120.4(RLIM):c.1094G>A (p.Arg365His)not provided [RCV001772487]uncertain significanceX7459222174592221Humanname
150555163CV1295982single nucleotide variantNM_016120.4(RLIM):c.1000C>T (p.Arg334Trp)not provided [RCV001772491]uncertain significanceX7459231574592315Humanname
150556218CV1296765single nucleotide variantNM_016120.4(RLIM):c.1430C>T (p.Pro477Leu)not provided [RCV001774055]uncertain significanceX7459188574591885Humanname
151235052CV1318311single nucleotide variantNM_016120.4(RLIM):c.1403G>A (p.Ser468Asn)not provided [RCV001794634]uncertain significanceX7459191274591912Humanname
151348776CV1324215single nucleotide variantNM_016120.4(RLIM):c.1490A>G (p.Asn497Ser)Intellectual disability, X-linked 61 [RCV001808131]uncertain significanceX7459182574591825Human1name
10042961CV166020single nucleotide variantNM_016120.4(RLIM):c.1067A>G (p.Tyr356Cys)Global developmental delay [RCV001526527]|Intellectual disability, X-linked 61 [RCV000207499]|Non-syndromic X-linked intellectual disability [RCV000170337]pathogenic|likely pathogenic|uncertain significanceX7459224874592248Human4name
155641974CV1706113single nucleotide variantNM_016120.4(RLIM):c.1468T>A (p.Ser490Thr)not provided [RCV002286975]uncertain significanceX7459184774591847Humanname
155642916CV1707562single nucleotide variantNM_016120.4(RLIM):c.1311G>A (p.Met437Ile)Intellectual disability, X-linked 61 [RCV002289023]uncertain significanceX7459200474592004Human1name
155797321CV1859284single nucleotide variantNM_016120.4(RLIM):c.1283C>T (p.Pro428Leu)not provided [RCV002464912]uncertain significanceX7459203274592032Humanname
155797647CV1860415single nucleotide variantNM_016120.4(RLIM):c.1743C>G (p.Asn581Lys)not provided [RCV002467057]uncertain significanceX7459157274591572Humanname
156051400CV1867714single nucleotide variantNM_016120.4(RLIM):c.1011T>G (p.Asp337Glu)not provided [RCV002510187]uncertain significanceX7459230474592304Humanname
156237013CV2193531single nucleotide variantNM_016120.4(RLIM):c.1271G>A (p.Ser424Asn)Inborn genetic diseases [RCV002645326]uncertain significanceX7459204474592044Human1name
155960987CV2204416single nucleotide variantNM_016120.4(RLIM):c.1321G>C (p.Glu441Gln)Inborn genetic diseases [RCV002686612]uncertain significanceX7459199474591994Human1name
156064008CV2317664single nucleotide variantNM_016120.4(RLIM):c.1172A>G (p.Asn391Ser)Inborn genetic diseases [RCV002925225]uncertain significanceX7459214374592143Human1name
156242751CV2347025single nucleotide variantNM_016120.4(RLIM):c.1691A>G (p.Asn564Ser)Inborn genetic diseases [RCV002987485]uncertain significanceX7459162474591624Human1name
155909834CV2360045single nucleotide variantNM_016120.4(RLIM):c.1343G>A (p.Gly448Asp)Inborn genetic diseases [RCV002991088]|not provided [RCV003435951]likely benignX7459197274591972Human1name
156163729CV2389609single nucleotide variantNM_016120.4(RLIM):c.1864A>G (p.Ser622Gly)Inborn genetic diseases [RCV002764884]uncertain significanceX7459145174591451Human1name
156434904CV2403184single nucleotide variantNM_016120.4(RLIM):c.1057A>G (p.Thr353Ala)not provided [RCV003127140]uncertain significanceX7459225874592258Humanname
243052276CV2417810single nucleotide variantNM_016120.4(RLIM):c.1115G>A (p.Arg372Gln)Inborn genetic diseases [RCV005273640]|Intellectual disability, X-linked 61 [RCV003152874]uncertain significanceX7459220074592200Human2name
11531273CV247498single nucleotide variantNM_016120.4(RLIM):c.1760C>G (p.Pro587Arg)Intellectual disability, X-linked 61 [RCV000239584]pathogenicX7459155574591555Human1name
11531239CV247499single nucleotide variantNM_016120.4(RLIM):c.1159C>T (p.Arg387Cys)Inborn genetic diseases [RCV002518541]|Intellectual disability, X-linked 61 [RCV000239497]|Non-syndromic X-linked intellectual disability [RCV004017569]|not provided [RCV002292497]pathogenic|likely pathogenicX7459215674592156Human3name
11531256CV247500single nucleotide variantNM_016120.4(RLIM):c.1795C>T (p.Arg599Cys)Intellectual disability, X-linked 61 [RCV000239547]pathogenicX7459152074591520Human1name
329350346CV2477331single nucleotide variantNM_016120.4(RLIM):c.1384A>G (p.Ser462Gly)not provided [RCV003221656]uncertain significanceX7459193174591931Humanname
329848532CV2523275single nucleotide variantNM_016120.4(RLIM):c.1454G>T (p.Ser485Ile)not provided [RCV003225289]uncertain significanceX7459186174591861Humanname
329954803CV2670735single nucleotide variantNM_016120.4(RLIM):c.1250G>A (p.Ser417Asn)not provided [RCV003236003]uncertain significanceX7459206574592065Humanname
401830580CV2748236single nucleotide variantNM_016120.4(RLIM):c.1334G>C (p.Gly445Ala)not provided [RCV003329844]uncertain significanceX7459198174591981Humanname
401855072CV2752745single nucleotide variantNM_016120.4(RLIM):c.1358G>A (p.Ser453Asn)Intellectual disability, X-linked 61 [RCV003337799]uncertain significanceX7459195774591957Human1name
401914501CV2830722single nucleotide variantNM_016120.4(RLIM):c.1508C>T (p.Ser503Leu)Intellectual disability, X-linked 61 [RCV004594700]|not provided [RCV003442460]uncertain significanceX7459180774591807Human1name
402480744CV2910993single nucleotide variantNM_016120.4(RLIM):c.1273G>A (p.Asp425Asn)not provided [RCV003572049]uncertain significanceX7459204274592042Humanname
404982657CV2979441single nucleotide variantNM_016120.4(RLIM):c.1121G>A (p.Gly374Asp)not provided [RCV003691463]uncertain significanceX7459219474592194Humanname
405753149CV3316210single nucleotide variantNM_016120.4(RLIM):c.1436C>G (p.Ser479Cys)Inborn genetic diseases [RCV004454095]uncertain significanceX7459187974591879Human1name
405753155CV3316211single nucleotide variantNM_016120.4(RLIM):c.1520G>A (p.Gly507Asp)Inborn genetic diseases [RCV004454096]uncertain significanceX7459179574591795Human1name
407475753CV3483375single nucleotide variantNM_016120.4(RLIM):c.1357A>G (p.Ser453Gly)Inborn genetic diseases [RCV004663307]likely benignX7459195874591958Human1name
407475756CV3483376single nucleotide variantNM_016120.4(RLIM):c.1328G>A (p.Arg443Gln)Inborn genetic diseases [RCV004663308]uncertain significanceX7459198774591987Human1name
408369961CV3502922single nucleotide variantNM_016120.4(RLIM):c.1571G>T (p.Gly524Val)not provided [RCV004724043]uncertain significanceX7459174474591744Humanname
408394317CV3521933single nucleotide variantNM_016120.4(RLIM):c.1529G>A (p.Arg510Gln)Intellectual disability, X-linked 61 [RCV004764732]uncertain significanceX7459178674591786Human1name
408381986CV3526665single nucleotide variantNM_016120.4(RLIM):c.1406C>G (p.Ser469Cys)not provided [RCV004771978]uncertain significanceX7459190974591909Humanname
408385755CV3528665single nucleotide variantNM_016120.4(RLIM):c.1743C>A (p.Asn581Lys)not provided [RCV004772498]uncertain significanceX7459157274591572Humanname
596922549CV3529979single nucleotide variantNM_016120.4(RLIM):c.1113G>T (p.Glu371Asp)not provided [RCV004776578]uncertain significanceX7459220274592202Humanname
596923432CV3530417single nucleotide variantNM_016120.4(RLIM):c.1795C>A (p.Arg599Ser)not provided [RCV004777016]uncertain significanceX7459152074591520Humanname
596926140CV3530709single nucleotide variantNM_016120.4(RLIM):c.1650A>C (p.Lys550Asn)not provided [RCV004778294]uncertain significanceX7459166574591665Humanname
597718634CV3593762single nucleotide variantNM_016120.4(RLIM):c.1066T>G (p.Tyr356Asp)Inborn genetic diseases [RCV004960164]uncertain significanceX7459224974592249Human1name
598219162CV3891762single nucleotide variantNM_016120.4(RLIM):c.1045A>G (p.Thr349Ala)Intellectual disability, X-linked 61 [RCV005252605]uncertain significanceX7459227074592270Human1name
616936198CV4016237single nucleotide variantNM_016120.4(RLIM):c.1343G>T (p.Gly448Val)not provided [RCV005415103]uncertain significanceX7459197274591972Humanname
617152092CV4018285single nucleotide variantNM_016120.4(RLIM):c.1260G>A (p.Met420Ile)not specified [RCV005418545]uncertain significanceX7459205574592055Humanname
617150894CV4019250single nucleotide variantNM_016120.4(RLIM):c.1685G>A (p.Gly562Asp)not provided [RCV005423658]uncertain significanceX7459163074591630Humanname
12912743CV422517single nucleotide variantNM_016120.4(RLIM):c.1571G>A (p.Gly524Asp)not provided [RCV000492961]uncertain significanceX7459174474591744Humanname
13216728CV430917single nucleotide variantNM_016120.4(RLIM):c.1373G>A (p.Ser458Asn)not specified [RCV000504032]uncertain significanceX7459194274591942Humanname
13486570CV446768single nucleotide variantNM_016120.4(RLIM):c.1865G>A (p.Ser622Asn)not provided [RCV000522953]uncertain significanceX7459145074591450Humanname
13802073CV576292single nucleotide variantNM_016120.4(RLIM):c.1792G>A (p.Asp598Asn)Intellectual disability, X-linked 61 [RCV000709994]|not provided [RCV001585663]pathogenic|likely pathogenicX7459152374591523Human1name
13802074CV576293single nucleotide variantNM_016120.4(RLIM):c.1093C>T (p.Arg365Cys)Intellectual disability, X-linked 61 [RCV000709995]|not provided [RCV001726316]pathogenic|likely pathogenicX7459222274592222Human1name
13802075CV576294single nucleotide variantNM_016120.4(RLIM):c.1831C>T (p.Arg611Cys)Intellectual disability, X-linked 61 [RCV000709996]|not provided [RCV003148841]pathogenic|likely pathogenicX7459148474591484Human1name
13831472CV590027single nucleotide variantNM_016120.4(RLIM):c.1729T>C (p.Tyr577His)Intellectual disability, X-linked 61 [RCV000735274]likely pathogenicX7459158674591586Human1name
14697936CV623369single nucleotide variantNM_016120.4(RLIM):c.1364C>A (p.Ser455Tyr)Intellectual disability, X-linked 61 [RCV000786999]uncertain significanceX7459195174591951Human1name
14725872CV656802single nucleotide variantNM_016120.4(RLIM):c.1079G>A (p.Arg360Gln)not provided [RCV000833628]likely benignX7459223674592236Humanname
15185897CV706313single nucleotide variantNM_016120.4(RLIM):c.1411T>C (p.Ser471Pro)not provided [RCV000953120]benignX7459190474591904Humanname
126728621CV967246single nucleotide variantNM_016120.4(RLIM):c.1262A>G (p.Tyr421Cys)Intellectual disability, X-linked 61 [RCV001293455]likely pathogenicX7459205374592053Human1name
153002392CV1685511indelNM_016120.4(RLIM):c.1611_1614delinsG (p.Asn538del)not provided [RCV002259498]uncertain significanceX7459170174591704Humanname
150531056CV1299268deletionNM_016120.4(RLIM):c.1413_1424del (p.Ser473_Ser476del)not provided [RCV001756961]uncertain significanceX7459189174591902Humanname
243060186CV2413755deletionNM_016120.4(RLIM):c.1401_1412del (p.Ser473_Ser476del)Intellectual disability, X-linked 61 [RCV003135775]uncertain significanceX7459190374591914Human1name
405260070CV3186543deletionNM_016120.4(RLIM):c.1429_1440del (p.Pro477_Ser480del)not provided [RCV003884302]likely benignX7459187574591886Humanname
38468007CV921027microsatelliteNM_016120.4(RLIM):c.1401CAGTTC[3] (p.Ser475_Ser476dup)not provided [RCV001200508]likely benignX7459190274591903Humanname
155264962CV1704512duplicationNM_016120.4(RLIM):c.1377_1382dup (p.Ser476_Pro477insSerSer)not provided [RCV002284728]uncertain significanceX7459193274591933Humanname
596946020CV3548177microsatelliteNM_016120.4(RLIM):c.1383CAGTTC[3] (p.Ser476_Pro477insSerSer)not provided [RCV004809508]likely benignX7459192074591921Humanname