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


500 records found for search term Lrp1b
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401901810CV2804493single nucleotide variantNM_018557.3(LRP1B):c.205+2T>ALRP1B-related disorder [RCV003393134]uncertain significance2141810277141810277Humanname , trait , alternate_id
405274608CV3208951duplicationNM_018557.3(LRP1B):c.344-9dupLRP1B-related disorder [RCV003951728]benign2141254649141254650Humanname , trait , alternate_id
405275978CV3193185single nucleotide variantNM_018557.3(LRP1B):c.8850+3A>GLRP1B-related disorder [RCV003974351]benign2140501684140501684Humanname , trait , alternate_id
405276753CV3193524single nucleotide variantNM_018557.3(LRP1B):c.4335-7T>GLRP1B-related disorder [RCV003974692]benign2140867841140867841Humanname , trait , alternate_id
405272429CV3199321single nucleotide variantNM_018557.3(LRP1B):c.2380+9A>GLRP1B-related disorder [RCV003914271]benign2141013547141013547Humanname , trait , alternate_id
405280340CV3200677single nucleotide variantNM_018557.3(LRP1B):c.5500+5A>GLRP1B-related disorder [RCV003977301]benign2140776093140776093Humanname , trait , alternate_id
405272606CV3210095single nucleotide variantNM_018557.3(LRP1B):c.1409-4G>ALRP1B-related disorder [RCV003914344]likely benign2141055263141055263Humanname , trait , alternate_id
405283967CV3213500single nucleotide variantNM_018557.3(LRP1B):c.8522-8G>ALRP1B-related disorder [RCV003922081]likely benign2140503111140503111Humanname , trait , alternate_id
405286874CV3213851single nucleotide variantNM_018557.3(LRP1B):c.7877-4C>ALRP1B-related disorder [RCV003924246]likely benign2140525997140525997Humanname , trait , alternate_id
405293821CV3214600single nucleotide variantNM_018557.3(LRP1B):c.5626+7G>ALRP1B-related disorder [RCV003932261]benign2140770874140770874Humanname , trait , alternate_id
405287445CV3217752single nucleotide variantNM_018557.3(LRP1B):c.7388-7A>GLRP1B-related disorder [RCV003981875]benign2140541105140541105Humanname , trait , alternate_id
15161018CV743808single nucleotide variantNM_018557.3(LRP1B):c.2645-7C>TLRP1B-related disorder [RCV003950606]|not provided [RCV000903263]benign2140989664140989664Humanname , trait , alternate_id
15113147CV774570single nucleotide variantNM_018557.3(LRP1B):c.4334+9A>Tnot provided [RCV000939070]likely benign2140868090140868090Humanname
15165518CV777172deletionNM_018557.3(LRP1B):c.7514-8delnot provided [RCV000948608]benign2140536717140536717Humanname
38598389CV965412single nucleotide variantNM_018557.3(LRP1B):c.9120+2T>CMalignant neoplastic disease [RCV001254875]uncertain significance2140492606140492606Human2name
401924881CV2812351single nucleotide variantNM_018557.3(LRP1B):c.8663-28T>Cnot provided [RCV003436181]benign2140501902140501902Humanname
401916954CV2812354single nucleotide variantNM_018557.3(LRP1B):c.8150-15T>Anot provided [RCV003429285]benign2140514787140514787Humanname
405280620CV3195598single nucleotide variantNM_018557.3(LRP1B):c.7194+10T>CLRP1B-related disorder [RCV003906840]likely benign2140598621140598621Humanname , trait , alternate_id
405294380CV3214824single nucleotide variantNM_018557.3(LRP1B):c.11008+6G>TLRP1B-related disorder [RCV003934238]likely benign2140370704140370704Humanname , trait , alternate_id
405294438CV3215328single nucleotide variantNM_018557.3(LRP1B):c.12806-3T>CLRP1B-related disorder [RCV003934325]likely benign2140297972140297972Humanname , trait , alternate_id
405277050CV3217681duplicationNM_018557.3(LRP1B):c.10532-9dupLRP1B-related disorder [RCV003974746]benign2140378294140378295Humanname , trait , alternate_id
405287364CV3217756single nucleotide variantNM_018557.3(LRP1B):c.2968+10A>CLRP1B-related disorder [RCV003981879]benign2140951850140951850Humanname , trait , alternate_id
405278945CV3220503single nucleotide variantNM_018557.3(LRP1B):c.13659+8A>GLRP1B-related disorder [RCV003976691]benign2140234778140234778Humanname , trait , alternate_id
15163166CV743810duplicationNM_018557.3(LRP1B):c.8663-12dupLRP1B-related disorder [RCV003958184]|not provided [RCV000903712]benign2140501878140501879Humanname , trait , alternate_id
15144378CV778865duplicationNM_018557.3(LRP1B):c.4170-21dupnot provided [RCV000966825]benign2140868265140868266Humanname
8576586CV110953single nucleotide variantNM_018557.2(LRP1B):c.7514-905C>ALung cancer [RCV000091476]uncertain significance2140537614140537614Humanname
8576592CV110959single nucleotide variantNM_018557.2(LRP1B):c.1237-112T>GLung cancer [RCV000091482]uncertain significance2141059166141059166Humanname
8576594CV110961single nucleotide variantNM_018557.2(LRP1B):c.850+6350G>CLung cancer [RCV000091484]uncertain significance2141222833141222833Humanname
8576597CV110964single nucleotide variantNM_018557.2(LRP1B):c.83-41718T>ALung cancer [RCV000091487]uncertain significance2141852119141852119Humanname
15103105CV730054single nucleotide variantNM_018557.3(LRP1B):c.13659+10G>Tnot provided [RCV000892608]benign2140234776140234776Humanname
8576585CV110952single nucleotide variantNM_018557.2(LRP1B):c.8026+1974A>CLung cancer [RCV000091475]uncertain significance2140523870140523870Humanname
8576588CV110955single nucleotide variantNM_018557.2(LRP1B):c.6024-4901T>ALung cancer [RCV000091478]uncertain significance2140707454140707454Humanname
8576589CV110956single nucleotide variantNM_018557.2(LRP1B):c.5759-1625G>CLung cancer [RCV000091479]uncertain significance2140718441140718441Humanname
8576590CV110957single nucleotide variantNM_018557.2(LRP1B):c.5500+1436A>GLung cancer [RCV000091480]uncertain significance2140774662140774662Humanname
8576598CV110965single nucleotide variantNM_018557.2(LRP1B):c.83-143148A>TLung cancer [RCV000091488]uncertain significance2141953549141953549Humanname
8576580CV110947single nucleotide variantNM_018557.2(LRP1B):c.12224-1019C>TLung cancer [RCV000091470]uncertain significance2140326897140326897Humanname
8576581CV110948single nucleotide variantNM_018557.2(LRP1B):c.10532-3074G>TLung cancer [RCV000091471]uncertain significance2140381360140381360Humanname
8576582CV110949single nucleotide variantNM_018557.2(LRP1B):c.10532-3452A>TLung cancer [RCV000091472]uncertain significance2140381738140381738Humanname
8576584CV110951single nucleotide variantNM_018557.2(LRP1B):c.10057+2026C>GLung cancer [RCV000091474]uncertain significance2140448542140448542Humanname
8576587CV110954single nucleotide variantNM_018557.2(LRP1B):c.6799+32205C>ALung cancer [RCV000091477]uncertain significance2140668045140668045Humanname
8576591CV110958single nucleotide variantNM_018557.2(LRP1B):c.1790-14053G>CLung cancer [RCV000091481]uncertain significance2141034155141034155Humanname
8576593CV110960single nucleotide variantNM_018557.2(LRP1B):c.1014-24902G>TLung cancer [RCV000091483]uncertain significance2141087175141087175Humanname
8576595CV110962single nucleotide variantNM_018557.2(LRP1B):c.205+154910A>TLung cancer [RCV000091485]uncertain significance2141655369141655369Humanname
8576596CV110963single nucleotide variantNM_018557.2(LRP1B):c.205+148068G>ALung cancer [RCV000091486]uncertain significance2141662211141662211Humanname
8576583CV110950single nucleotide variantNM_018557.2(LRP1B):c.10415-18266G>ALung cancer [RCV000091473]uncertain significance2140404275140404275Humanname
405284149CV3213545deletionNM_018557.3(LRP1B):c.4170-5_4170-3delLRP1B-related disorder [RCV003922120]benign2140868266140868268Humanname , trait , alternate_id
405294345CV3214772duplicationNM_018557.3(LRP1B):c.4170-5_4170-3dupLRP1B-related disorder [RCV003934193]likely benign2140868265140868266Humanname , trait , alternate_id
401916956CV2812356single nucleotide variantNM_018557.3(LRP1B):c.489T>A (p.Gly163=)not provided [RCV003429286]likely benign2141247329141247329Humanname
405277154CV3198769single nucleotide variantNM_018557.3(LRP1B):c.927T>C (p.Val309=)LRP1B-related disorder [RCV003904093]benign2141188507141188507Humanname , trait , alternate_id
15179469CV719268single nucleotide variantNM_018557.3(LRP1B):c.909C>T (p.Val303=)LRP1B-related disorder [RCV003975571]|not provided [RCV000885298]benign2141188525141188525Humanname , trait , alternate_id
156326140CV2205595single nucleotide variantNM_018557.3(LRP1B):c.253C>G (p.Leu85Val)not specified [RCV004082517]uncertain significance2141480486141480486Humanname
156250071CV2273240single nucleotide variantNM_018557.3(LRP1B):c.131C>T (p.Thr44Ile)not specified [RCV004132035]uncertain significance2141810353141810353Humanname
156383113CV2361412single nucleotide variantNM_018557.3(LRP1B):c.223A>G (p.Ile75Val)not specified [RCV004221058]uncertain significance2141480516141480516Humanname
329402487CV2454707single nucleotide variantNM_018557.3(LRP1B):c.144G>T (p.Gln48His)not specified [RCV004269944]uncertain significance2141810340141810340Humanname
405276176CV3193263single nucleotide variantNM_018557.3(LRP1B):c.143A>G (p.Gln48Arg)LRP1B-related disorder [RCV003974429]benign2141810341141810341Human3name , trait , alternate_id
405276176CV3193263single nucleotide variantNM_018557.3(LRP1B):c.143A>G (p.Gln48Arg)LRP1B-related disorder [RCV003974429]benign2141810341141810342Human3name , trait , alternate_id
405277345CV3195439single nucleotide variantNM_018557.3(LRP1B):c.1308C>T (p.Ile436=)LRP1B-related disorder [RCV003904224]likely benign2141058983141058983Humanname , trait , alternate_id
405262733CV3196766single nucleotide variantNM_018557.3(LRP1B):c.1239T>C (p.Val413=)LRP1B-related disorder [RCV003967371]benign2141059052141059052Humanname , trait , alternate_id
405276452CV3206742single nucleotide variantNM_018557.3(LRP1B):c.2985C>T (p.Asp995=)LRP1B-related disorder [RCV003917173]benign2140950386140950386Humanname , trait , alternate_id
405293214CV3207278single nucleotide variantNM_018557.3(LRP1B):c.2850C>T (p.Asp950=)LRP1B-related disorder [RCV003931673]likely benign2140982197140982197Humanname , trait , alternate_id
405294598CV3208878single nucleotide variantNM_018557.3(LRP1B):c.1431C>T (p.Val477=)LRP1B-related disorder [RCV003934458]likely benign2141055237141055237Humanname , trait , alternate_id
405285888CV3209745single nucleotide variantNM_018557.3(LRP1B):c.1944A>G (p.Arg648=)LRP1B-related disorder [RCV003959306]likely benign2141019948141019948Humanname , trait , alternate_id
405273327CV3210459single nucleotide variantNM_018557.3(LRP1B):c.2811G>A (p.Gly937=)LRP1B-related disorder [RCV003914627]likely benign2140982236140982236Humanname , trait , alternate_id
405287714CV3217921single nucleotide variantNM_018557.3(LRP1B):c.2616C>T (p.Asp872=)LRP1B-related disorder [RCV003982044]benign2140994023140994023Humanname , trait , alternate_id
405278329CV3221816single nucleotide variantNM_018557.3(LRP1B):c.2058G>T (p.Arg686=)LRP1B-related disorder [RCV003976387]benign2141015828141015828Humanname , trait , alternate_id
405818260CV3280773single nucleotide variantNM_018557.3(LRP1B):c.175C>T (p.Pro59Ser)not specified [RCV004413089]uncertain significance2141810309141810309Humanname
597625463CV3696471single nucleotide variantNM_018557.3(LRP1B):c.110T>G (p.Phe37Cys)not specified [RCV004938301]uncertain significance2141810374141810374Humanname
597625624CV3699501single nucleotide variantNM_018557.3(LRP1B):c.193T>A (p.Ser65Thr)not specified [RCV004938285]uncertain significance2141810291141810291Humanname
598250077CV3988017single nucleotide variantNM_018557.3(LRP1B):c.127G>A (p.Val43Met)not specified [RCV005366461]uncertain significance2141810357141810357Humanname
15195604CV697038single nucleotide variantNM_018557.3(LRP1B):c.2610C>T (p.Cys870=)LRP1B-related disorder [RCV003915892]|not provided [RCV000955967]benign2140994029140994029Humanname , trait , alternate_id
15195607CV697040single nucleotide variantNM_018557.3(LRP1B):c.2395C>A (p.Arg799=)LRP1B-related disorder [RCV003903284]|not provided [RCV000955968]benign2141005443141005443Humanname , trait , alternate_id
15183662CV707741single nucleotide variantNM_018557.3(LRP1B):c.1365T>C (p.Asn455=)LRP1B-related disorder [RCV003936197]|not provided [RCV000974928]benign2141058926141058926Humanname , trait , alternate_id
15133109CV732781single nucleotide variantNM_018557.3(LRP1B):c.1563T>C (p.Asn521=)not provided [RCV000898074]likely benign2141049212141049212Humanname
8625145CV80264single nucleotide variantNM_018557.2(LRP1B):c.2619A>T (p.Gly873=)Malignant melanoma [RCV000060340]not provided2140994020140994020Humanname
8625148CV80267single nucleotide variantNM_018557.2(LRP1B):c.190G>A (p.Glu64Lys)Malignant melanoma [RCV000060343]not provided2141810294141810294Humanname
156251750CV2311320single nucleotide variantNM_018557.3(LRP1B):c.733G>C (p.Asp245His)not specified [RCV004166391]uncertain significance2141229300141229300Humanname
156364283CV2341920single nucleotide variantNM_018557.3(LRP1B):c.481G>T (p.Val161Phe)not specified [RCV004184867]uncertain significance2141247337141247337Humanname
156340795CV2348050single nucleotide variantNM_018557.3(LRP1B):c.403A>G (p.Ser135Gly)not specified [RCV004197732]uncertain significance2141254582141254582Humanname
156133082CV2365942single nucleotide variantNM_018557.3(LRP1B):c.940G>C (p.Gly314Arg)not specified [RCV004207553]uncertain significance2141188494141188494Humanname
156097327CV2375596single nucleotide variantNM_018557.3(LRP1B):c.596C>A (p.Pro199His)not specified [RCV004226081]uncertain significance2141229437141229437Humanname
155939341CV2376691single nucleotide variantNM_018557.3(LRP1B):c.904C>G (p.His302Asp)not specified [RCV004226980]uncertain significance2141188530141188530Humanname
156172706CV2380841single nucleotide variantNM_018557.3(LRP1B):c.916C>T (p.Arg306Trp)not specified [RCV004218397]uncertain significance2141188518141188518Humanname
329387177CV2428417single nucleotide variantNM_018557.3(LRP1B):c.692A>G (p.Asn231Ser)not specified [RCV004253218]uncertain significance2141229341141229341Humanname
401765236CV2712564single nucleotide variantNM_018557.3(LRP1B):c.547G>A (p.Gly183Ser)not specified [RCV004307897]uncertain significance2141247271141247271Humanname
405657360CV2752311single nucleotide variantNM_018557.3(LRP1B):c.3978T>C (p.Ile1326=)Inborn genetic diseases [RCV004011258]likely pathogenic2140884008140884008Human1name
401890940CV2778526single nucleotide variantNM_018557.3(LRP1B):c.353C>T (p.Ser118Phe)not specified [RCV004344185]uncertain significance2141254632141254632Humanname
401864982CV2791438single nucleotide variantNM_018557.3(LRP1B):c.704T>C (p.Ile235Thr)not specified [RCV004358827]uncertain significance2141229329141229329Humanname
401916952CV2812352single nucleotide variantNM_018557.3(LRP1B):c.8547A>G (p.Glu2849=)LRP1B-related disorder [RCV003901059]|not provided [RCV003429284]benign|likely benign2140503078140503078Humanname , trait , alternate_id
401924883CV2812353single nucleotide variantNM_018557.3(LRP1B):c.8262C>T (p.Ser2754=)LRP1B-related disorder [RCV003946588]|not provided [RCV003436182]likely benign2140514660140514660Humanname , trait , alternate_id
401924885CV2812355single nucleotide variantNM_018557.3(LRP1B):c.5457T>C (p.Ser1819=)not provided [RCV003436183]likely benign2140776141140776141Humanname
405282419CV3191000single nucleotide variantNM_018557.3(LRP1B):c.7752A>G (p.Leu2584=)LRP1B-related disorder [RCV003921422]likely benign2140534031140534031Humanname , trait , alternate_id
405283298CV3191370single nucleotide variantNM_018557.3(LRP1B):c.5022A>G (p.Gln1674=)LRP1B-related disorder [RCV003921764]likely benign2140841010140841010Humanname , trait , alternate_id
405286118CV3192048single nucleotide variantNM_018557.3(LRP1B):c.5043T>C (p.Asp1681=)LRP1B-related disorder [RCV003923973]likely benign2140840989140840989Humanname , trait , alternate_id
405287070CV3193137single nucleotide variantNM_018557.3(LRP1B):c.4476G>A (p.Leu1492=)LRP1B-related disorder [RCV003981784]likely benign2140867693140867693Humanname , trait , alternate_id
405276096CV3193192single nucleotide variantNM_018557.3(LRP1B):c.3072C>A (p.Ala1024=)LRP1B-related disorder [RCV003974358]benign2140950299140950299Humanname , trait , alternate_id
405276531CV3193386single nucleotide variantNM_018557.3(LRP1B):c.6633A>T (p.Pro2211=)LRP1B-related disorder [RCV003974553]benign2140700416140700416Humanname , trait , alternate_id
405275351CV3196213single nucleotide variantNM_018557.3(LRP1B):c.9225A>G (p.Leu3075=)LRP1B-related disorder [RCV003974088]benign2140487635140487635Humanname , trait , alternate_id
405263016CV3196836single nucleotide variantNM_018557.3(LRP1B):c.8823C>T (p.Asp2941=)LRP1B-related disorder [RCV003967387]benign2140501714140501714Humanname , trait , alternate_id
405290799CV3197113single nucleotide variantNM_018557.3(LRP1B):c.5256A>G (p.Ser1752=)LRP1B-related disorder [RCV003984675]benign2140813760140813760Humanname , trait , alternate_id
405268452CV3198906single nucleotide variantNM_018557.3(LRP1B):c.9318A>G (p.Thr3106=)LRP1B-related disorder [RCV003912024]likely benign2140485450140485450Humanname , trait , alternate_id
405279986CV3200170single nucleotide variantNM_018557.3(LRP1B):c.6714C>A (p.Thr2238=)LRP1B-related disorder [RCV003977098]likely benign2140700335140700335Humanname , trait , alternate_id
405290491CV3200863single nucleotide variantNM_018557.3(LRP1B):c.8730C>T (p.Cys2910=)LRP1B-related disorder [RCV003984527]benign2140501807140501807Humanname , trait , alternate_id
405290579CV3200900single nucleotide variantNM_018557.3(LRP1B):c.8031A>G (p.Gln2677=)LRP1B-related disorder [RCV003984564]benign2140517007140517007Humanname , trait , alternate_id
405271737CV3206189single nucleotide variantNM_018557.3(LRP1B):c.6519A>G (p.Gly2173=)LRP1B-related disorder [RCV003971846]likely benign2140700530140700530Humanname , trait , alternate_id
405256074CV3208588single nucleotide variantNM_018557.3(LRP1B):c.3198C>T (p.Cys1066=)LRP1B-related disorder [RCV003939662]benign2140923086140923086Humanname , trait , alternate_id
405274482CV3208791single nucleotide variantNM_018557.3(LRP1B):c.7977C>T (p.Cys2659=)LRP1B-related disorder [RCV003951597]likely benign2140525893140525893Humanname , trait , alternate_id
405261405CV3209702single nucleotide variantNM_018557.3(LRP1B):c.7542G>A (p.Ser2514=)LRP1B-related disorder [RCV003944467]benign2140536681140536681Humanname , trait , alternate_id
405293895CV3210474single nucleotide variantNM_018557.3(LRP1B):c.4104A>G (p.Leu1368=)LRP1B-related disorder [RCV003932295]likely benign2140883882140883882Humanname , trait , alternate_id
405282424CV3212860single nucleotide variantNM_018557.3(LRP1B):c.3273C>T (p.Thr1091=)LRP1B-related disorder [RCV003956993]likely benign2140923011140923011Humanname , trait , alternate_id
405282613CV3212963single nucleotide variantNM_018557.3(LRP1B):c.8130A>C (p.Gly2710=)LRP1B-related disorder [RCV003957075]likely benign2140516908140516908Humanname , trait , alternate_id
405293825CV3214605single nucleotide variantNM_018557.3(LRP1B):c.4392A>G (p.Arg1464=)LRP1B-related disorder [RCV003932265]benign2140867777140867777Humanname , trait , alternate_id
405278042CV3216416single nucleotide variantNM_018557.3(LRP1B):c.8958C>T (p.Tyr2986=)LRP1B-related disorder [RCV003954357]likely benign2140495641140495641Humanname , trait , alternate_id
405278288CV3216417single nucleotide variantNM_018557.3(LRP1B):c.5310C>T (p.Ile1770=)LRP1B-related disorder [RCV003954358]likely benign2140813706140813706Humanname , trait , alternate_id
405278698CV3216748single nucleotide variantNM_018557.3(LRP1B):c.4320G>T (p.Val1440=)LRP1B-related disorder [RCV003954626]likely benign2140868113140868113Humanname , trait , alternate_id
405283011CV3216895single nucleotide variantNM_018557.3(LRP1B):c.8238G>A (p.Gly2746=)LRP1B-related disorder [RCV003979059]benign2140514684140514684Humanname , trait , alternate_id
405277078CV3217686single nucleotide variantNM_018557.3(LRP1B):c.8526T>C (p.Tyr2842=)LRP1B-related disorder [RCV003974751]benign2140503099140503099Humanname , trait , alternate_id
405291882CV3221184single nucleotide variantNM_018557.3(LRP1B):c.393G>A (p.Met131Ile)LRP1B-related disorder [RCV003964274]likely benign2141254592141254592Humanname , trait , alternate_id
405261305CV3221423single nucleotide variantNM_018557.3(LRP1B):c.5439C>T (p.Ile1813=)LRP1B-related disorder [RCV003966909]likely benign2140776159140776159Humanname , trait , alternate_id
405278181CV3221732single nucleotide variantNM_018557.3(LRP1B):c.8322C>T (p.Cys2774=)LRP1B-related disorder [RCV003976321]benign2140510004140510004Humanname , trait , alternate_id
405818097CV3280791single nucleotide variantNM_018557.3(LRP1B):c.668A>G (p.Lys223Arg)not specified [RCV004413107]uncertain significance2141229365141229365Humanname
405818104CV3280798single nucleotide variantNM_018557.3(LRP1B):c.799G>A (p.Ala267Thr)not specified [RCV004413114]likely benign2141229234141229234Humanname
405818106CV3280800single nucleotide variantNM_018557.3(LRP1B):c.913G>A (p.Asp305Asn)not specified [RCV004413116]uncertain significance2141188521141188521Humanname
405818112CV3280806single nucleotide variantNM_018557.3(LRP1B):c.958C>G (p.Leu320Val)not specified [RCV004413122]uncertain significance2141188476141188476Humanname
405818115CV3280809single nucleotide variantNM_018557.3(LRP1B):c.976C>G (p.His326Asp)not specified [RCV004413125]uncertain significance2141188458141188458Humanname
407472372CV3446190single nucleotide variantNM_018557.3(LRP1B):c.646G>A (p.Val216Ile)not specified [RCV004637598]likely benign2141229387141229387Humanname
596945300CV3547814single nucleotide variantNM_018557.3(LRP1B):c.973C>T (p.Leu325Phe)not provided [RCV004809145]likely benign2141188461141188461Humanname
597625491CV3696486single nucleotide variantNM_018557.3(LRP1B):c.324C>A (p.Asp108Glu)not specified [RCV004938311]uncertain significance2141480415141480415Humanname
597625496CV3696488single nucleotide variantNM_018557.3(LRP1B):c.316G>A (p.Gly106Arg)not specified [RCV004938313]uncertain significance2141480423141480423Humanname
597778358CV3699503single nucleotide variantNM_018557.3(LRP1B):c.840A>T (p.Gln280His)not specified [RCV004930111]uncertain significance2141229193141229193Humanname
15189627CV697033single nucleotide variantNM_018557.3(LRP1B):c.8103C>T (p.Cys2701=)LRP1B-related disorder [RCV003915836]|not provided [RCV000954235]benign2140516935140516935Humanname , trait , alternate_id
15190845CV697035single nucleotide variantNM_018557.3(LRP1B):c.6357G>A (p.Thr2119=)LRP1B-related disorder [RCV003915845]|not provided [RCV000954597]benign|likely benign2140701791140701791Humanname , trait , alternate_id
15150557CV707735single nucleotide variantNM_018557.3(LRP1B):c.8514G>A (p.Pro2838=)LRP1B-related disorder [RCV003943168]|not provided [RCV000967968]benign|likely benign2140506803140506803Humanname , trait , alternate_id
15150563CV707736single nucleotide variantNM_018557.3(LRP1B):c.8043A>G (p.Lys2681=)LRP1B-related disorder [RCV003960793]|not provided [RCV000967969]benign2140516995140516995Humanname , trait , alternate_id
15183657CV707737single nucleotide variantNM_018557.3(LRP1B):c.8014T>C (p.Leu2672=)LRP1B-related disorder [RCV003936196]|not provided [RCV000974927]benign2140525856140525856Humanname , trait , alternate_id
15163951CV707738single nucleotide variantNM_018557.3(LRP1B):c.4329C>T (p.Asp1443=)not provided [RCV000970601]benign2140868104140868104Humanname
15179983CV707739single nucleotide variantNM_018557.3(LRP1B):c.4179C>T (p.Phe1393=)not provided [RCV000974042]likely benign2140868254140868254Humanname
15201951CV719266single nucleotide variantNM_018557.3(LRP1B):c.7947C>T (p.Thr2649=)LRP1B-related disorder [RCV003920761]|not provided [RCV000891341]benign|likely benign2140525923140525923Humanname , trait , alternate_id
15202360CV719269single nucleotide variantNM_018557.3(LRP1B):c.701A>G (p.Glu234Gly)not provided [RCV000891449]likely benign2141229332141229332Humanname
15174468CV732780single nucleotide variantNM_018557.3(LRP1B):c.6180C>T (p.Arg2060=)LRP1B-related disorder [RCV003958230]|not provided [RCV000905971]benign2140702263140702263Humanname , trait , alternate_id
15147207CV732782single nucleotide variantNM_018557.3(LRP1B):c.536G>A (p.Ser179Asn)LRP1B-related disorder [RCV003975725]|not provided [RCV000900470]benign2141247282141247282Humanname , trait , alternate_id
15113969CV762188single nucleotide variantNM_018557.3(LRP1B):c.9282C>T (p.Val3094=)not provided [RCV000939230]likely benign2140485486140485486Humanname
8625147CV80266single nucleotide variantNM_018557.2(LRP1B):c.433G>A (p.Glu145Lys)Malignant melanoma [RCV000060342]not provided2141254552141254552Humanname
156257476CV2204583single nucleotide variantNM_018557.3(LRP1B):c.1676G>A (p.Arg559His)not specified [RCV004081692]uncertain significance2141049099141049099Humanname
155964590CV2210011single nucleotide variantNM_018557.3(LRP1B):c.1421C>A (p.Ala474Glu)not specified [RCV004076445]uncertain significance2141055247141055247Humanname
156387293CV2221467single nucleotide variantNM_018557.3(LRP1B):c.1272T>A (p.Asp424Glu)not specified [RCV004096749]uncertain significance2141059019141059019Humanname
156335528CV2228407single nucleotide variantNM_018557.3(LRP1B):c.1774A>G (p.Thr592Ala)not specified [RCV004098383]uncertain significance2141049001141049001Humanname
156076833CV2230243single nucleotide variantNM_018557.3(LRP1B):c.1682T>C (p.Leu561Ser)not specified [RCV004099864]uncertain significance2141049093141049093Humanname
156127544CV2234721single nucleotide variantNM_018557.3(LRP1B):c.2017G>A (p.Val673Met)not specified [RCV004102665]uncertain significance2141015869141015869Humanname
156241942CV2261968single nucleotide variantNM_018557.3(LRP1B):c.1739T>C (p.Ile580Thr)not specified [RCV004126462]uncertain significance2141049036141049036Humanname
156251221CV2273384single nucleotide variantNM_018557.3(LRP1B):c.1184G>T (p.Gly395Val)not specified [RCV004132153]uncertain significance2141062103141062103Humanname
156285031CV2289029single nucleotide variantNM_018557.3(LRP1B):c.2590T>C (p.Cys864Arg)not specified [RCV004149978]uncertain significance2140994049140994049Humanname
156057159CV2308984single nucleotide variantNM_018557.3(LRP1B):c.2260A>G (p.Thr754Ala)not specified [RCV004169263]uncertain significance2141013676141013676Humanname
156241589CV2310232single nucleotide variantNM_018557.3(LRP1B):c.1345T>A (p.Ser449Thr)not specified [RCV004163331]uncertain significance2141058946141058946Humanname
156249767CV2314186single nucleotide variantNM_018557.3(LRP1B):c.1105A>G (p.Thr369Ala)LRP1B-related disorder [RCV003954001]|not provided [RCV005242334]|not specified [RCV004166264]likely benign|uncertain significance2141062182141062182Humanname , trait , alternate_id
156045245CV2318994single nucleotide variantNM_018557.3(LRP1B):c.2877G>A (p.Met959Ile)not specified [RCV004178087]uncertain significance2140982170140982170Humanname
155979406CV2340046single nucleotide variantNM_018557.3(LRP1B):c.1250A>G (p.Tyr417Cys)not specified [RCV004192292]uncertain significance2141059041141059041Humanname
155914291CV2341965single nucleotide variantNM_018557.3(LRP1B):c.1556C>A (p.Pro519Gln)not specified [RCV004184907]uncertain significance2141049219141049219Humanname
156089696CV2344483single nucleotide variantNM_018557.3(LRP1B):c.1430T>C (p.Val477Ala)not specified [RCV004195226]uncertain significance2141055238141055238Humanname
329358752CV2425361single nucleotide variantNM_018557.3(LRP1B):c.2193T>G (p.Ile731Met)not specified [RCV004251022]uncertain significance2141013743141013743Humanname
329358901CV2450743single nucleotide variantNM_018557.3(LRP1B):c.2102C>T (p.Thr701Ile)not specified [RCV004267679]uncertain significance2141015784141015784Humanname
329397043CV2459857single nucleotide variantNM_018557.3(LRP1B):c.1622A>G (p.Asn541Ser)not specified [RCV004279354]uncertain significance2141049153141049153Humanname
401736133CV2672831single nucleotide variantNM_018557.3(LRP1B):c.1373G>C (p.Gly458Ala)not specified [RCV004281607]uncertain significance2141058918141058918Humanname
401933824CV2797730single nucleotide variantNM_018557.3(LRP1B):c.2010T>A (p.Asp670Glu)LRP1B-related disorder [RCV003410701]|not specified [RCV004927910]uncertain significance2141015876141015876Humanname , trait , alternate_id
401924879CV2812350single nucleotide variantNM_018557.3(LRP1B):c.10194A>G (p.Ser3398=)not provided [RCV003436180]likely benign2140444430140444430Humanname
405284579CV3190423single nucleotide variantNM_018557.3(LRP1B):c.12948C>G (p.Thr4316=)LRP1B-related disorder [RCV003909236]likely benign2140297827140297827Humanname , trait , alternate_id
405275945CV3193159single nucleotide variantNM_018557.3(LRP1B):c.10650G>A (p.Glu3550=)LRP1B-related disorder [RCV003974325]benign2140373126140373126Humanname , trait , alternate_id
405262643CV3196794single nucleotide variantNM_018557.3(LRP1B):c.11727C>T (p.Gly3909=)LRP1B-related disorder [RCV003967377]benign2140350962140350962Humanname , trait , alternate_id
405290913CV3197178single nucleotide variantNM_018557.3(LRP1B):c.13047G>A (p.Thr4349=)LRP1B-related disorder [RCV003984741]benign2140274519140274519Humanname , trait , alternate_id
405276075CV3199584single nucleotide variantNM_018557.3(LRP1B):c.11361C>T (p.Cys3787=)LRP1B-related disorder [RCV003916977]benign2140358013140358013Humanname , trait , alternate_id
405279776CV3200122single nucleotide variantNM_018557.3(LRP1B):c.10401C>T (p.Asp3467=)LRP1B-related disorder [RCV003977061]likely benign2140442517140442517Humanname , trait , alternate_id
405279830CV3200150single nucleotide variantNM_018557.3(LRP1B):c.10470C>T (p.Pro3490=)LRP1B-related disorder [RCV003977084]likely benign2140385954140385954Humanname , trait , alternate_id
405285046CV3202306single nucleotide variantNM_018557.3(LRP1B):c.2785G>T (p.Val929Leu)LRP1B-related disorder [RCV003909579]benign2140982262140982262Humanname , trait , alternate_id
405291760CV3206108single nucleotide variantNM_018557.3(LRP1B):c.13799A>G (p.Ter4600=)LRP1B-related disorder [RCV003964183]likely benign2140233187140233187Humanname , trait , alternate_id
405293105CV3207209single nucleotide variantNM_018557.3(LRP1B):c.1309G>A (p.Val437Ile)LRP1B-related disorder [RCV003931608]benign2141058982141058982Humanname , trait , alternate_id
405272888CV3210194single nucleotide variantNM_018557.3(LRP1B):c.12828A>C (p.Ala4276=)LRP1B-related disorder [RCV003914432]likely benign2140297947140297947Humanname , trait , alternate_id
405266799CV3213227single nucleotide variantNM_018557.3(LRP1B):c.10887G>T (p.Val3629=)LRP1B-related disorder [RCV003969366]likely benign2140370831140370831Humanname , trait , alternate_id
405294326CV3214794single nucleotide variantNM_018557.3(LRP1B):c.11847A>G (p.Lys3949=)LRP1B-related disorder [RCV003934210]likely benign2140350842140350842Humanname , trait , alternate_id
405818261CV3280772single nucleotide variantNM_018557.3(LRP1B):c.1631T>C (p.Ile544Thr)not specified [RCV004413088]uncertain significance2141049144141049144Humanname
405818259CV3280774single nucleotide variantNM_018557.3(LRP1B):c.1876G>A (p.Val626Met)not specified [RCV004413090]uncertain significance2141020016141020016Humanname
407472310CV3446174single nucleotide variantNM_018557.3(LRP1B):c.2466T>A (p.Asp822Glu)not specified [RCV004637586]uncertain significance2141005372141005372Humanname
407472315CV3446175single nucleotide variantNM_018557.3(LRP1B):c.2879C>A (p.Ala960Glu)not specified [RCV004637587]uncertain significance2140982168140982168Humanname
407461456CV3446187single nucleotide variantNM_018557.3(LRP1B):c.1964T>C (p.Val655Ala)not specified [RCV004634134]uncertain significance2141019928141019928Humanname
407472366CV3446189single nucleotide variantNM_018557.3(LRP1B):c.2117C>T (p.Thr706Ile)not specified [RCV004637597]uncertain significance2141015769141015769Humanname
407472377CV3446192single nucleotide variantNM_018557.3(LRP1B):c.1202G>C (p.Gly401Ala)not specified [RCV004637599]uncertain significance2141062085141062085Humanname
596945860CV3548013single nucleotide variantNM_018557.3(LRP1B):c.11538T>C (p.Asn3846=)not provided [RCV004809344]likely benign2140353065140353065Humanname
597625604CV3696460single nucleotide variantNM_018557.3(LRP1B):c.1676G>T (p.Arg559Leu)not specified [RCV004938293]uncertain significance2141049099141049099Humanname
597625461CV3696470single nucleotide variantNM_018557.3(LRP1B):c.2144A>T (p.Tyr715Phe)not specified [RCV004938300]uncertain significance2141015742141015742Humanname
597625633CV3699496single nucleotide variantNM_018557.3(LRP1B):c.1767G>C (p.Glu589Asp)not specified [RCV004938281]uncertain significance2141049008141049008Humanname
597625631CV3699497single nucleotide variantNM_018557.3(LRP1B):c.2056C>T (p.Arg686Trp)not specified [RCV004938282]uncertain significance2141015830141015830Humanname
597625621CV3699502single nucleotide variantNM_018557.3(LRP1B):c.2306G>C (p.Ser769Thr)not specified [RCV004938286]uncertain significance2141013630141013630Humanname
598262315CV3988034single nucleotide variantNM_018557.3(LRP1B):c.1628A>G (p.Lys543Arg)not specified [RCV005348021]uncertain significance2141049147141049147Humanname
598250150CV3988038single nucleotide variantNM_018557.3(LRP1B):c.2617G>A (p.Gly873Arg)not specified [RCV005366471]uncertain significance2140994022140994022Humanname
598250174CV3988044single nucleotide variantNM_018557.3(LRP1B):c.1852G>C (p.Asp618His)not specified [RCV005366474]uncertain significance2141020040141020040Humanname
15170540CV697031single nucleotide variantNM_018557.3(LRP1B):c.12555C>T (p.Cys4185=)LRP1B-related disorder [RCV003978201]|not provided [RCV000949669]benign2140322048140322048Humanname , trait , alternate_id
15202133CV697039single nucleotide variantNM_018557.3(LRP1B):c.2532A>G (p.Ile844Met)LRP1B-related disorder [RCV003915954]|not provided [RCV000957828]benign2140994107140994107Humanname , trait , alternate_id
15186091CV697041single nucleotide variantNM_018557.3(LRP1B):c.2005A>G (p.Ile669Val)LRP1B-related disorder [RCV003915824]|not provided [RCV000953179]benign2141015881141015881Humanname , trait , alternate_id
15150552CV707734single nucleotide variantNM_018557.3(LRP1B):c.12363C>T (p.Ile4121=)not provided [RCV000967967]benign2140324044140324044Humanname
15131526CV707740single nucleotide variantNM_018557.3(LRP1B):c.1907G>A (p.Arg636Gln)LRP1B-related disorder [RCV003905885]|not provided [RCV000964617]benign|likely benign2141019985141019985Humanname , trait , alternate_id
15201430CV719265single nucleotide variantNM_018557.3(LRP1B):c.12360G>A (p.Arg4120=)LRP1B-related disorder [RCV003910589]|not provided [RCV000891191]likely benign2140324047140324047Humanname , trait , alternate_id
15179055CV762186single nucleotide variantNM_018557.3(LRP1B):c.12441A>C (p.Ser4147=)not provided [RCV000929548]likely benign2140323966140323966Humanname
15112160CV762187single nucleotide variantNM_018557.3(LRP1B):c.11196G>A (p.Ser3732=)not provided [RCV000938892]likely benign2140358882140358882Humanname
21067268CV794772single nucleotide variantNM_018557.3(LRP1B):c.1685A>G (p.Asp562Gly)not provided [RCV000997209]uncertain significance2141049090141049090Humanname
8625137CV80256single nucleotide variantNM_018557.2(LRP1B):c.13725C>T (p.Ser4575=)Malignant melanoma [RCV000060332]not provided2140233261140233261Humanname
8625146CV80265single nucleotide variantNM_018557.2(LRP1B):c.1322G>A (p.Arg441Gln)Malignant melanoma [RCV000060341]not provided2141058969141058969Humanname
8629869CV85016single nucleotide variantNM_018557.2(LRP1B):c.1647G>A (p.Met549Ile)Malignant melanoma [RCV000065098]not provided2141049128141049128Humanname
150411379CV1195899single nucleotide variantNM_018557.3(LRP1B):c.7366G>A (p.Val2456Ile)not provided [RCV001573650]uncertain significance2140541800140541800Humanname
151663653CV1334119single nucleotide variantNM_018557.3(LRP1B):c.9556C>T (p.Arg3186Cys)LRP1B-associated developmental disorder [RCV001839293]uncertain significance2140475207140475207Humanname , trait
9831591CV166665deletionNM_018557.3(LRP1B):c.344-65793_344-61550delPreeclampsia [RCV000161231]not provided2141316191141320434Humanname
9687037CV171334single nucleotide variantNM_018557.3(LRP1B):c.6648G>T (p.Glu2216Asp)Prostate cancer [RCV000149256]uncertain significance2140700401140700401Human2name
155797960CV1784586single nucleotide variantNM_018557.3(LRP1B):c.9026C>A (p.Ser3009Ter)Lung cancer [RCV002465249]pathogenic2140495573140495573Human1name
155798027CV1784641deletionNM_018557.3(LRP1B):c.11677del (p.Ala3893fs)Small cell lung carcinoma [RCV002465311]pathogenic2140351012140351012Human1name
155797899CV1784679single nucleotide variantNM_018557.3(LRP1B):c.9992C>A (p.Pro3331Gln)Lung cancer [RCV002465195]pathogenic2140450633140450633Human1name
155962121CV2200881single nucleotide variantNM_018557.3(LRP1B):c.4996A>G (p.Ile1666Val)not specified [RCV004081503]uncertain significance2140841036140841036Humanname
156181637CV2201826single nucleotide variantNM_018557.3(LRP1B):c.7974A>G (p.Ile2658Met)not specified [RCV004082259]uncertain significance2140525896140525896Humanname
156323794CV2201868single nucleotide variantNM_018557.3(LRP1B):c.9035A>G (p.Asp3012Gly)not specified [RCV004082294]uncertain significance2140492693140492693Humanname
156367488CV2203527single nucleotide variantNM_018557.3(LRP1B):c.9268A>G (p.Asn3090Asp)not specified [RCV004072730]uncertain significance2140485500140485500Humanname
156380746CV2208373single nucleotide variantNM_018557.3(LRP1B):c.6698A>G (p.Gln2233Arg)not specified [RCV004088805]uncertain significance2140700351140700351Humanname
155979049CV2215134single nucleotide variantNM_018557.3(LRP1B):c.6373G>A (p.Gly2125Ser)not specified [RCV004086855]uncertain significance2140701775140701775Humanname
155979102CV2215148single nucleotide variantNM_018557.3(LRP1B):c.4759G>A (p.Val1587Met)not specified [RCV004086868]uncertain significance2140850282140850282Humanname
156327573CV2217308single nucleotide variantNM_018557.3(LRP1B):c.4432T>C (p.Tyr1478His)not specified [RCV004087747]uncertain significance2140867737140867737Humanname
155939670CV2225643single nucleotide variantNM_018557.3(LRP1B):c.4472C>A (p.Thr1491Lys)not specified [RCV004102797]uncertain significance2140867697140867697Humanname
156385295CV2227877single nucleotide variantNM_018557.3(LRP1B):c.5398C>G (p.Leu1800Val)not specified [RCV004094514]uncertain significance2140776200140776200Humanname
156063260CV2228693single nucleotide variantNM_018557.3(LRP1B):c.8132G>A (p.Arg2711His)not specified [RCV004093178]uncertain significance2140516906140516906Humanname
156064017CV2240197single nucleotide variantNM_018557.3(LRP1B):c.4171A>T (p.Ile1391Phe)not specified [RCV004112776]uncertain significance2140868262140868262Humanname
156233218CV2245240single nucleotide variantNM_018557.3(LRP1B):c.7171G>C (p.Glu2391Gln)not specified [RCV004107011]uncertain significance2140598654140598654Humanname
155997257CV2250536single nucleotide variantNM_018557.3(LRP1B):c.6970G>A (p.Ala2324Thr)not specified [RCV004127396]uncertain significance2140601469140601469Humanname
156071018CV2251385single nucleotide variantNM_018557.3(LRP1B):c.6634A>G (p.Ile2212Val)not specified [RCV004117372]uncertain significance2140700415140700415Humanname
156076752CV2251386single nucleotide variantNM_018557.3(LRP1B):c.8308G>T (p.Gly2770Cys)not specified [RCV004117373]uncertain significance2140510018140510018Humanname
156302208CV2258625single nucleotide variantNM_018557.3(LRP1B):c.6139A>G (p.Ile2047Val)not specified [RCV004117884]uncertain significance2140702438140702438Humanname
156113045CV2261266single nucleotide variantNM_018557.3(LRP1B):c.4577A>G (p.Gln1526Arg)not specified [RCV004128138]uncertain significance2140867592140867592Humanname
156110308CV2261602single nucleotide variantNM_018557.3(LRP1B):c.3482A>G (p.Lys1161Arg)not specified [RCV004125931]likely benign2140907915140907915Humanname
156258315CV2264943single nucleotide variantNM_018557.3(LRP1B):c.9193C>A (p.Pro3065Thr)not specified [RCV004134680]uncertain significance2140487667140487667Humanname
156154555CV2266083single nucleotide variantNM_018557.3(LRP1B):c.8808T>G (p.Ser2936Arg)not specified [RCV004126893]uncertain significance2140501729140501729Humanname
156368503CV2267019single nucleotide variantNM_018557.3(LRP1B):c.3275T>A (p.Ile1092Lys)not specified [RCV004131658]uncertain significance2140923009140923009Humanname
155987754CV2275685single nucleotide variantNM_018557.3(LRP1B):c.4223C>T (p.Ser1408Phe)not specified [RCV004137299]uncertain significance2140868210140868210Humanname
156060683CV2305427single nucleotide variantNM_018557.3(LRP1B):c.7789C>T (p.Arg2597Cys)not specified [RCV004165151]uncertain significance2140526324140526324Humanname
156208066CV2308081single nucleotide variantNM_018557.3(LRP1B):c.6962A>G (p.His2321Arg)not specified [RCV004170504]uncertain significance2140601477140601477Humanname
156037675CV2313560single nucleotide variantNM_018557.3(LRP1B):c.6970G>T (p.Ala2324Ser)not specified [RCV004163851]uncertain significance2140601469140601469Humanname
156350039CV2316127single nucleotide variantNM_018557.3(LRP1B):c.6689A>G (p.Asp2230Gly)not specified [RCV004174179]uncertain significance2140700360140700360Humanname
156177745CV2331269single nucleotide variantNM_018557.3(LRP1B):c.4703C>T (p.Thr1568Ile)not specified [RCV004181870]uncertain significance2140851660140851660Humanname
156052600CV2336751single nucleotide variantNM_018557.3(LRP1B):c.7688G>T (p.Arg2563Leu)not specified [RCV004196988]uncertain significance2140534095140534095Humanname
156083603CV2343061single nucleotide variantNM_018557.3(LRP1B):c.9887A>G (p.His3296Arg)not specified [RCV004192658]uncertain significance2140456531140456531Humanname
156186776CV2346633single nucleotide variantNM_018557.3(LRP1B):c.6866C>T (p.Thr2289Ile)not specified [RCV004199661]uncertain significance2140601573140601573Humanname
156062298CV2351404single nucleotide variantNM_018557.3(LRP1B):c.7289G>A (p.Arg2430Gln)not specified [RCV004193094]uncertain significance2140541877140541877Humanname
156145511CV2358744single nucleotide variantNM_018557.3(LRP1B):c.5951G>C (p.Gly1984Ala)not specified [RCV004209655]uncertain significance2140716045140716045Humanname
156134760CV2362109single nucleotide variantNM_018557.3(LRP1B):c.3457C>T (p.Pro1153Ser)not specified [RCV004209914]uncertain significance2140907940140907940Humanname
155917406CV2362292single nucleotide variantNM_018557.3(LRP1B):c.8363C>T (p.Pro2788Leu)not specified [RCV004212933]uncertain significance2140509963140509963Humanname
156052167CV2388444single nucleotide variantNM_018557.3(LRP1B):c.5018C>T (p.Thr1673Met)not specified [RCV004237304]uncertain significance2140841014140841014Humanname
155968036CV2391412single nucleotide variantNM_018557.3(LRP1B):c.4174C>G (p.Leu1392Val)not specified [RCV004239814]uncertain significance2140868259140868259Humanname
155927560CV2391413single nucleotide variantNM_018557.3(LRP1B):c.4179C>G (p.Phe1393Leu)not specified [RCV004239815]uncertain significance2140868254140868254Humanname
156094937CV2398891single nucleotide variantNM_018557.3(LRP1B):c.7541C>T (p.Ser2514Leu)not specified [RCV004245208]uncertain significance2140536682140536682Humanname
329367591CV2427458single nucleotide variantNM_018557.3(LRP1B):c.3142C>T (p.His1048Tyr)not specified [RCV004248307]uncertain significance2140923142140923142Humanname
329385647CV2432130single nucleotide variantNM_018557.3(LRP1B):c.7693A>C (p.Ile2565Leu)not specified [RCV004249277]uncertain significance2140534090140534090Humanname
329361319CV2436890single nucleotide variantNM_018557.3(LRP1B):c.3941G>A (p.Arg1314Gln)not specified [RCV004260276]uncertain significance2140886161140886161Humanname
329356009CV2442434single nucleotide variantNM_018557.3(LRP1B):c.9946A>G (p.Asn3316Asp)not specified [RCV004266679]uncertain significance2140456472140456472Humanname
329378474CV2446945single nucleotide variantNM_018557.3(LRP1B):c.5728T>A (p.Ser1910Thr)not specified [RCV004257789]uncertain significance2140769243140769243Humanname
329354491CV2448279single nucleotide variantNM_018557.3(LRP1B):c.6964G>A (p.Val2322Met)not specified [RCV004263478]uncertain significance2140601475140601475Humanname
329374023CV2452779single nucleotide variantNM_018557.3(LRP1B):c.6617C>G (p.Thr2206Ser)not specified [RCV004275317]uncertain significance2140700432140700432Humanname
329402488CV2454708single nucleotide variantNM_018557.3(LRP1B):c.4684C>G (p.Leu1562Val)not specified [RCV004269945]uncertain significance2140851679140851679Humanname
329401689CV2457171single nucleotide variantNM_018557.3(LRP1B):c.4271G>C (p.Gly1424Ala)not specified [RCV004265257]uncertain significance2140868162140868162Humanname
329394808CV2457646single nucleotide variantNM_018557.3(LRP1B):c.4769A>G (p.Asp1590Gly)not specified [RCV004269499]uncertain significance2140850272140850272Humanname
329377380CV2462584single nucleotide variantNM_018557.3(LRP1B):c.5356A>C (p.Met1786Leu)not specified [RCV004278533]uncertain significance2140813660140813660Humanname
329383101CV2465530single nucleotide variantNM_018557.3(LRP1B):c.4443A>C (p.Glu1481Asp)not specified [RCV004281279]uncertain significance2140867726140867726Humanname
329394487CV2469896single nucleotide variantNM_018557.3(LRP1B):c.3842G>A (p.Ser1281Asn)not specified [RCV004285365]uncertain significance2140886260140886260Humanname
329375103CV2470923single nucleotide variantNM_018557.3(LRP1B):c.8512C>T (p.Pro2838Ser)not specified [RCV004276115]uncertain significance2140506805140506805Humanname
401756962CV2678154single nucleotide variantNM_018557.3(LRP1B):c.9418C>G (p.Gln3140Glu)not specified [RCV004296663]uncertain significance2140485350140485350Humanname
401736847CV2689505single nucleotide variantNM_018557.3(LRP1B):c.6067A>G (p.Lys2023Glu)not specified [RCV004308345]uncertain significance2140702510140702510Humanname
401751033CV2700152single nucleotide variantNM_018557.3(LRP1B):c.9757T>A (p.Tyr3253Asn)not specified [RCV004310549]likely benign2140457520140457520Humanname
401774243CV2702669single nucleotide variantNM_018557.3(LRP1B):c.4426T>C (p.Ser1476Pro)not specified [RCV004318930]uncertain significance2140867743140867743Humanname
401783141CV2703820single nucleotide variantNM_018557.3(LRP1B):c.4393G>A (p.Gly1465Ser)not specified [RCV004306688]uncertain significance2140867776140867776Humanname
401758498CV2704559single nucleotide variantNM_018557.3(LRP1B):c.3023A>T (p.Asp1008Val)not specified [RCV004313289]uncertain significance2140950348140950348Humanname
401778705CV2705543single nucleotide variantNM_018557.3(LRP1B):c.7768A>G (p.Thr2590Ala)not specified [RCV004318411]uncertain significance2140526345140526345Humanname
401761789CV2713895single nucleotide variantNM_018557.3(LRP1B):c.3392G>A (p.Cys1131Tyr)not specified [RCV004315327]uncertain significance2140908005140908005Humanname
401759995CV2718676single nucleotide variantNM_018557.3(LRP1B):c.6996G>T (p.Met2332Ile)not specified [RCV004328440]uncertain significance2140598829140598829Humanname
401768032CV2727359single nucleotide variantNM_018557.3(LRP1B):c.4714A>G (p.Met1572Val)not specified [RCV004327460]uncertain significance2140850327140850327Humanname
405657355CV2752310single nucleotide variantNM_018557.3(LRP1B):c.4357C>A (p.Leu1453Ile)Inborn genetic diseases [RCV004011257]likely pathogenic2140867812140867812Human1name
405657364CV2752312single nucleotide variantNM_018557.3(LRP1B):c.5062A>G (p.Ile1688Val)Inborn genetic diseases [RCV004011259]likely pathogenic2140840970140840970Human1name
405657373CV2752314single nucleotide variantNM_018557.3(LRP1B):c.3699C>A (p.His1233Gln)Inborn genetic diseases [RCV004011261]likely pathogenic2140902987140902987Human1name
405657377CV2752315single nucleotide variantNM_018557.3(LRP1B):c.3581G>T (p.Gly1194Val)Inborn genetic diseases [RCV004011262]likely pathogenic2140903105140903105Human1name
401892834CV2758098single nucleotide variantNM_018557.3(LRP1B):c.8956T>C (p.Tyr2986His)not specified [RCV004339657]uncertain significance2140495643140495643Humanname
401858243CV2766426single nucleotide variantNM_018557.3(LRP1B):c.8350G>C (p.Glu2784Gln)not specified [RCV004345269]uncertain significance2140509976140509976Humanname
401891330CV2769006single nucleotide variantNM_018557.3(LRP1B):c.5795A>G (p.Asn1932Ser)not specified [RCV004348880]uncertain significance2140716780140716780Humanname
401885966CV2771539single nucleotide variantNM_018557.3(LRP1B):c.9344A>G (p.Lys3115Arg)not specified [RCV004348567]uncertain significance2140485424140485424Humanname
401854418CV2777652single nucleotide variantNM_018557.3(LRP1B):c.7114T>C (p.Tyr2372His)not specified [RCV004343491]likely benign2140598711140598711Humanname
401864365CV2777810single nucleotide variantNM_018557.3(LRP1B):c.5737G>C (p.Val1913Leu)not specified [RCV004345999]uncertain significance2140769234140769234Humanname
401879483CV2785151single nucleotide variantNM_018557.3(LRP1B):c.3938A>G (p.Tyr1313Cys)not specified [RCV004355149]uncertain significance2140886164140886164Humanname
401865848CV2786173single nucleotide variantNM_018557.3(LRP1B):c.4793C>T (p.Thr1598Met)not specified [RCV004359976]uncertain significance2140850248140850248Humanname
401932718CV2801836single nucleotide variantNM_018557.3(LRP1B):c.6820C>T (p.Leu2274Phe)LRP1B-related disorder [RCV003408806]uncertain significance2140601619140601619Humanname , trait , alternate_id
401937942CV2803937single nucleotide variantNM_018557.3(LRP1B):c.7887C>G (p.Asp2629Glu)LRP1B-related disorder [RCV003417014]uncertain significance2140525983140525983Humanname , trait , alternate_id
405281588CV3191687single nucleotide variantNM_018557.3(LRP1B):c.6655C>T (p.Arg2219Cys)LRP1B-related disorder [RCV003907326]likely benign2140700394140700394Humanname , trait , alternate_id
405280784CV3195703single nucleotide variantNM_018557.3(LRP1B):c.4742G>A (p.Arg1581His)LRP1B-related disorder [RCV003906936]likely benign2140850299140850299Humanname , trait , alternate_id
405275926CV3199507single nucleotide variantNM_018557.3(LRP1B):c.9401A>G (p.Asp3134Gly)LRP1B-related disorder [RCV003916906]likely benign2140485367140485367Humanname , trait , alternate_id
405272242CV3206455single nucleotide variantNM_018557.3(LRP1B):c.9419A>G (p.Gln3140Arg)LRP1B-related disorder [RCV003972058]benign2140485349140485349Humanname , trait , alternate_id
405276264CV3206664single nucleotide variantNM_018557.3(LRP1B):c.6493C>T (p.Arg2165Trp)LRP1B-related disorder [RCV003917105]likely benign2140700556140700556Humanname , trait , alternate_id
405257838CV3207906single nucleotide variantNM_018557.3(LRP1B):c.3215G>A (p.Arg1072His)LRP1B-related disorder [RCV003941381]benign2140923069140923069Humanname , trait , alternate_id
405272703CV3210120single nucleotide variantNM_018557.3(LRP1B):c.7370C>A (p.Ala2457Asp)LRP1B-related disorder [RCV003914369]uncertain significance2140541796140541796Humanname , trait , alternate_id
405287257CV3210612single nucleotide variantNM_018557.3(LRP1B):c.6656G>A (p.Arg2219His)LRP1B-related disorder [RCV003924384]benign2140700393140700393Humanname , trait , alternate_id
405287677CV3210747single nucleotide variantNM_018557.3(LRP1B):c.9532G>A (p.Ala3178Thr)LRP1B-related disorder [RCV003924502]benign2140475231140475231Humanname , trait , alternate_id
405285398CV3212388single nucleotide variantNM_018557.3(LRP1B):c.3137A>G (p.Glu1046Gly)LRP1B-related disorder [RCV003958996]likely benign2140923147140923147Humanname , trait , alternate_id
405262338CV3212836single nucleotide variantNM_018557.3(LRP1B):c.5901A>G (p.Ile1967Met)LRP1B-related disorder [RCV003944743]benign2140716095140716095Humanname , trait , alternate_id
405279294CV3219365single nucleotide variantNM_018557.3(LRP1B):c.3187G>A (p.Asp1063Asn)LRP1B-related disorder [RCV003954838]likely benign2140923097140923097Humanname , trait , alternate_id
405818257CV3280776single nucleotide variantNM_018557.3(LRP1B):c.3135A>C (p.Glu1045Asp)not specified [RCV004413092]uncertain significance2140950236140950236Humanname
405818256CV3280777single nucleotide variantNM_018557.3(LRP1B):c.3164G>C (p.Gly1055Ala)not specified [RCV004413093]uncertain significance2140923120140923120Humanname
405818255CV3280778single nucleotide variantNM_018557.3(LRP1B):c.3259G>A (p.Gly1087Ser)not specified [RCV004413094]uncertain significance2140923025140923025Humanname
405818254CV3280779single nucleotide variantNM_018557.3(LRP1B):c.3696G>T (p.Lys1232Asn)not specified [RCV004413095]uncertain significance2140902990140902990Humanname
405818253CV3280780single nucleotide variantNM_018557.3(LRP1B):c.3744C>A (p.Asp1248Glu)not specified [RCV004413096]uncertain significance2140902942140902942Humanname
405818252CV3280781single nucleotide variantNM_018557.3(LRP1B):c.4715T>G (p.Met1572Arg)not specified [RCV004413097]uncertain significance2140850326140850326Humanname
405818251CV3280782single nucleotide variantNM_018557.3(LRP1B):c.5101C>T (p.His1701Tyr)not specified [RCV004413098]uncertain significance2140840931140840931Humanname
405818250CV3280783single nucleotide variantNM_018557.3(LRP1B):c.5216C>T (p.Ser1739Leu)not specified [RCV004413099]uncertain significance2140813800140813800Humanname
405818249CV3280784single nucleotide variantNM_018557.3(LRP1B):c.5738T>C (p.Val1913Ala)not specified [RCV004413100]uncertain significance2140769233140769233Humanname
405818216CV3280785single nucleotide variantNM_018557.3(LRP1B):c.6071C>T (p.Ala2024Val)not specified [RCV004413101]uncertain significance2140702506140702506Humanname
405818215CV3280786single nucleotide variantNM_018557.3(LRP1B):c.6175G>A (p.Ala2059Thr)not specified [RCV004413102]uncertain significance2140702268140702268Humanname
405818191CV3280787single nucleotide variantNM_018557.3(LRP1B):c.6286A>G (p.Ile2096Val)not specified [RCV004413103]uncertain significance2140702157140702157Humanname
405818168CV3280788single nucleotide variantNM_018557.3(LRP1B):c.6350C>T (p.Thr2117Ile)not specified [RCV004413104]uncertain significance2140701798140701798Humanname
405818143CV3280789single nucleotide variantNM_018557.3(LRP1B):c.6494G>A (p.Arg2165Gln)not specified [RCV004413105]likely benign2140700555140700555Humanname
405818121CV3280790single nucleotide variantNM_018557.3(LRP1B):c.6612T>G (p.Asp2204Glu)not specified [RCV004413106]uncertain significance2140700437140700437Humanname
405818098CV3280792single nucleotide variantNM_018557.3(LRP1B):c.6896A>G (p.Asp2299Gly)not specified [RCV004413108]uncertain significance2140601543140601543Humanname
405818099CV3280793single nucleotide variantNM_018557.3(LRP1B):c.6904C>T (p.Arg2302Trp)not specified [RCV004413109]uncertain significance2140601535140601535Humanname
405818101CV3280795single nucleotide variantNM_018557.3(LRP1B):c.7013A>G (p.Asn2338Ser)not specified [RCV004413111]uncertain significance2140598812140598812Humanname
405818102CV3280796single nucleotide variantNM_018557.3(LRP1B):c.7084A>G (p.Ile2362Val)not specified [RCV004413112]uncertain significance2140598741140598741Humanname
405818103CV3280797single nucleotide variantNM_018557.3(LRP1B):c.7148G>A (p.Ser2383Asn)not specified [RCV004413113]uncertain significance2140598677140598677Humanname
405818105CV3280799single nucleotide variantNM_018557.3(LRP1B):c.8309G>T (p.Gly2770Val)not specified [RCV004413115]uncertain significance2140510017140510017Humanname
405818107CV3280801single nucleotide variantNM_018557.3(LRP1B):c.9163G>C (p.Glu3055Gln)not specified [RCV004413117]uncertain significance2140487697140487697Humanname
405818108CV3280802single nucleotide variantNM_018557.3(LRP1B):c.9405G>C (p.Leu3135Phe)not specified [RCV004413118]uncertain significance2140485363140485363Humanname
405818109CV3280803single nucleotide variantNM_018557.3(LRP1B):c.9491A>G (p.Asn3164Ser)not specified [RCV004413119]uncertain significance2140475272140475272Humanname
405818110CV3280804single nucleotide variantNM_018557.3(LRP1B):c.9506T>C (p.Ile3169Thr)not specified [RCV004413120]uncertain significance2140475257140475257Humanname
405818111CV3280805single nucleotide variantNM_018557.3(LRP1B):c.9524G>A (p.Arg3175Lys)not specified [RCV004413121]uncertain significance2140475239140475239Humanname
405818113CV3280807single nucleotide variantNM_018557.3(LRP1B):c.9637G>A (p.Asp3213Asn)not specified [RCV004413123]uncertain significance2140457640140457640Humanname
405871855CV3398106single nucleotide variantNM_018557.3(LRP1B):c.3893A>G (p.Asn1298Ser)not provided [RCV004575107]uncertain significance2140886209140886209Humanname
407461444CV3446176single nucleotide variantNM_018557.3(LRP1B):c.9376A>G (p.Ser3126Gly)not specified [RCV004634131]uncertain significance2140485392140485392Humanname
407472329CV3446179single nucleotide variantNM_018557.3(LRP1B):c.8438A>G (p.His2813Arg)not specified [RCV004637590]likely benign2140506879140506879Humanname
407472334CV3446180single nucleotide variantNM_018557.3(LRP1B):c.3745G>A (p.Gly1249Ser)not specified [RCV004637591]uncertain significance2140902941140902941Humanname
407472340CV3446181single nucleotide variantNM_018557.3(LRP1B):c.6421G>C (p.Glu2141Gln)not specified [RCV004637592]uncertain significance2140701727140701727Humanname
407472345CV3446183single nucleotide variantNM_018557.3(LRP1B):c.6226G>A (p.Glu2076Lys)not specified [RCV004637593]uncertain significance2140702217140702217Humanname
407461452CV3446184single nucleotide variantNM_018557.3(LRP1B):c.7006A>T (p.Asn2336Tyr)not specified [RCV004634133]uncertain significance2140598819140598819Humanname
407472360CV3446188single nucleotide variantNM_018557.3(LRP1B):c.5530G>A (p.Gly1844Arg)not specified [RCV004637596]uncertain significance2140770977140770977Humanname
407461460CV3446191single nucleotide variantNM_018557.3(LRP1B):c.8652T>G (p.Cys2884Trp)not specified [RCV004634135]uncertain significance2140502973140502973Humanname
407461464CV3446193single nucleotide variantNM_018557.3(LRP1B):c.8131C>T (p.Arg2711Cys)not specified [RCV004634136]uncertain significance2140516907140516907Humanname
407472383CV3446194single nucleotide variantNM_018557.3(LRP1B):c.4566T>G (p.Ser1522Arg)not specified [RCV004637600]uncertain significance2140867603140867603Humanname
407461468CV3446195single nucleotide variantNM_018557.3(LRP1B):c.9194C>G (p.Pro3065Arg)not specified [RCV004634137]uncertain significance2140487666140487666Humanname
407461472CV3446197single nucleotide variantNM_018557.3(LRP1B):c.3602A>T (p.Glu1201Val)not specified [RCV004634138]uncertain significance2140903084140903084Humanname
597625612CV3696455single nucleotide variantNM_018557.3(LRP1B):c.5743A>G (p.Ile1915Val)not specified [RCV004938290]uncertain significance2140769228140769228Humanname
597778362CV3696456single nucleotide variantNM_018557.3(LRP1B):c.9574G>A (p.Asp3192Asn)not specified [RCV004930112]uncertain significance2140475189140475189Humanname
597625609CV3696458single nucleotide variantNM_018557.3(LRP1B):c.5700G>A (p.Met1900Ile)not specified [RCV004938291]uncertain significance2140769271140769271Humanname
597625607CV3696459single nucleotide variantNM_018557.3(LRP1B):c.9731C>T (p.Ser3244Leu)not specified [RCV004938292]uncertain significance2140457546140457546Humanname
597625599CV3696462single nucleotide variantNM_018557.3(LRP1B):c.7907T>C (p.Leu2636Pro)not specified [RCV004938295]uncertain significance2140525963140525963Humanname
597625515CV3696464single nucleotide variantNM_018557.3(LRP1B):c.3896A>G (p.Gln1299Arg)not specified [RCV004938296]uncertain significance2140886206140886206Humanname
597625453CV3696466single nucleotide variantNM_018557.3(LRP1B):c.6917T>C (p.Phe2306Ser)not specified [RCV004938297]uncertain significance2140601522140601522Humanname
597778372CV3696469single nucleotide variantNM_018557.3(LRP1B):c.3568G>A (p.Val1190Ile)not specified [RCV004930114]uncertain significance2140903118140903118Humanname
597625468CV3696473single nucleotide variantNM_018557.3(LRP1B):c.6413G>A (p.Arg2138Gln)not specified [RCV004938303]uncertain significance2140701735140701735Humanname
597625472CV3696475single nucleotide variantNM_018557.3(LRP1B):c.4975G>T (p.Val1659Leu)not specified [RCV004938304]uncertain significance2140841057140841057Humanname
597625475CV3696476single nucleotide variantNM_018557.3(LRP1B):c.4070A>T (p.Asp1357Val)not specified [RCV004938305]uncertain significance2140883916140883916Humanname
597625479CV3696477single nucleotide variantNM_018557.3(LRP1B):c.3364T>C (p.Cys1122Arg)not specified [RCV004938306]uncertain significance2140908033140908033Humanname
597625482CV3696478single nucleotide variantNM_018557.3(LRP1B):c.7676G>A (p.Cys2559Tyr)not specified [RCV004938307]uncertain significance2140534107140534107Humanname
597778376CV3696479single nucleotide variantNM_018557.3(LRP1B):c.7321A>T (p.Ile2441Phe)not specified [RCV004930115]uncertain significance2140541845140541845Humanname
597778384CV3696481single nucleotide variantNM_018557.3(LRP1B):c.7063C>G (p.Gln2355Glu)not specified [RCV004930117]uncertain significance2140598762140598762Humanname
597625484CV3696482single nucleotide variantNM_018557.3(LRP1B):c.7679A>G (p.Tyr2560Cys)not specified [RCV004938308]uncertain significance2140534104140534104Humanname
597625486CV3696483single nucleotide variantNM_018557.3(LRP1B):c.9069T>G (p.His3023Gln)not specified [RCV004938309]uncertain significance2140492659140492659Humanname
597625488CV3696484single nucleotide variantNM_018557.3(LRP1B):c.7344T>G (p.His2448Gln)not specified [RCV004938310]uncertain significance2140541822140541822Humanname
597778388CV3696489single nucleotide variantNM_018557.3(LRP1B):c.4621T>A (p.Ser1541Thr)not specified [RCV004930118]uncertain significance2140851742140851742Humanname
597625498CV3696490single nucleotide variantNM_018557.3(LRP1B):c.6265G>C (p.Val2089Leu)not specified [RCV004938314]uncertain significance2140702178140702178Humanname
597625500CV3696491single nucleotide variantNM_018557.3(LRP1B):c.4703C>A (p.Thr1568Asn)not specified [RCV004938315]uncertain significance2140851660140851660Humanname
597625503CV3696492single nucleotide variantNM_018557.3(LRP1B):c.8562T>A (p.Asp2854Glu)not specified [RCV004938316]uncertain significance2140503063140503063Humanname
597625505CV3696493single nucleotide variantNM_018557.3(LRP1B):c.5927T>C (p.Leu1976Ser)not specified [RCV004938317]uncertain significance2140716069140716069Humanname
597625636CV3699495single nucleotide variantNM_018557.3(LRP1B):c.7296C>G (p.Asn2432Lys)not specified [RCV004938280]uncertain significance2140541870140541870Humanname
597625626CV3699500single nucleotide variantNM_018557.3(LRP1B):c.6908C>G (p.Pro2303Arg)not specified [RCV004938284]uncertain significance2140601531140601531Humanname
597625619CV3699504single nucleotide variantNM_018557.3(LRP1B):c.8329C>G (p.Arg2777Gly)not specified [RCV004938287]uncertain significance2140509997140509997Humanname
598262269CV3988016single nucleotide variantNM_018557.3(LRP1B):c.5737G>A (p.Val1913Met)not specified [RCV005348012]uncertain significance2140769234140769234Humanname
598262274CV3988020single nucleotide variantNM_018557.3(LRP1B):c.8162C>G (p.Ser2721Cys)not specified [RCV005348013]uncertain significance2140514760140514760Humanname
598262279CV3988021single nucleotide variantNM_018557.3(LRP1B):c.8481T>G (p.Asp2827Glu)not specified [RCV005348014]uncertain significance2140506836140506836Humanname
598262284CV3988023single nucleotide variantNM_018557.3(LRP1B):c.8675A>G (p.Asn2892Ser)not specified [RCV005348015]uncertain significance2140501862140501862Humanname
598262290CV3988024single nucleotide variantNM_018557.3(LRP1B):c.4375A>T (p.Met1459Leu)not specified [RCV005348016]uncertain significance2140867794140867794Humanname
598262295CV3988025single nucleotide variantNM_018557.3(LRP1B):c.9808C>A (p.Pro3270Thr)not specified [RCV005348017]uncertain significance2140457469140457469Humanname
598250102CV3988026single nucleotide variantNM_018557.3(LRP1B):c.6568C>A (p.Leu2190Met)not specified [RCV005366464]uncertain significance2140700481140700481Humanname
598262300CV3988027single nucleotide variantNM_018557.3(LRP1B):c.7769C>T (p.Thr2590Ile)not specified [RCV005348018]uncertain significance2140526344140526344Humanname
598250108CV3988028single nucleotide variantNM_018557.3(LRP1B):c.7718G>C (p.Gly2573Ala)not specified [RCV005366465]uncertain significance2140534065140534065Humanname
598262305CV3988029single nucleotide variantNM_018557.3(LRP1B):c.4934C>T (p.Ser1645Leu)not specified [RCV005348019]uncertain significance2140850107140850107Humanname
598250116CV3988030single nucleotide variantNM_018557.3(LRP1B):c.8192A>C (p.Lys2731Thr)not specified [RCV005366466]uncertain significance2140514730140514730Humanname
598250127CV3988033single nucleotide variantNM_018557.3(LRP1B):c.7514C>G (p.Thr2505Ser)not specified [RCV005366468]uncertain significance2140536709140536709Humanname
598262321CV3988035single nucleotide variantNM_018557.3(LRP1B):c.6336C>G (p.His2112Gln)not specified [RCV005348022]uncertain significance2140701812140701812Humanname
598250158CV3988040single nucleotide variantNM_018557.3(LRP1B):c.5748T>A (p.Asp1916Glu)not specified [RCV005366472]uncertain significance2140769223140769223Humanname
598250167CV3988041single nucleotide variantNM_018557.3(LRP1B):c.4735G>A (p.Ala1579Thr)not specified [RCV005366473]uncertain significance2140850306140850306Humanname
598262330CV3988043single nucleotide variantNM_018557.3(LRP1B):c.3841A>C (p.Ser1281Arg)not specified [RCV005348024]uncertain significance2140886261140886261Humanname
598250180CV3988045single nucleotide variantNM_018557.3(LRP1B):c.9467G>C (p.Gly3156Ala)not specified [RCV005366475]uncertain significance2140475296140475296Humanname
14696137CV612374single nucleotide variantNM_018557.3(LRP1B):c.7035G>A (p.Met2345Ile)High myopia [RCV000785683]uncertain significance2140598790140598790Human2name
15193175CV697034single nucleotide variantNM_018557.3(LRP1B):c.7420G>A (p.Gly2474Ser)LRP1B-related disorder [RCV003915867]|not provided [RCV000955295]benign|likely benign2140541066140541066Humanname , trait , alternate_id
15195600CV697036single nucleotide variantNM_018557.3(LRP1B):c.5726C>G (p.Thr1909Ser)LRP1B-related disorder [RCV003978293]|not provided [RCV000955966]benign2140769245140769245Humanname , trait , alternate_id
15198018CV697037single nucleotide variantNM_018557.3(LRP1B):c.3128C>G (p.Thr1043Ser)LRP1B-related disorder [RCV003926048]|not provided [RCV000956629]benign|likely benign2140950243140950243Humanname , trait , alternate_id
15201433CV719267single nucleotide variantNM_018557.3(LRP1B):c.6436G>T (p.Val2146Phe)LRP1B-related disorder [RCV003930797]|not provided [RCV000891192]benign2140700613140700613Humanname , trait , alternate_id
15126090CV732779single nucleotide variantNM_018557.3(LRP1B):c.8527C>G (p.Arg2843Gly)not provided [RCV000896875]benign2140503098140503098Humanname
8625141CV80260single nucleotide variantNM_018557.2(LRP1B):c.7684C>T (p.Arg2562Cys)Malignant melanoma [RCV000060336]not provided2140534099140534099Humanname
8625142CV80261single nucleotide variantNM_018557.2(LRP1B):c.7657C>T (p.Arg2553Ter)Malignant melanoma [RCV000060337]not provided2140534126140534126Humanname
8625143CV80262single nucleotide variantNM_018557.3(LRP1B):c.5735C>T (p.Ala1912Val)not provided [RCV000890473]likely benign|not provided2140769236140769236Humanname
8625144CV80263single nucleotide variantNM_018557.2(LRP1B):c.4270G>A (p.Gly1424Arg)Malignant melanoma [RCV000060339]not provided2140868163140868163Humanname
41407409CV981340single nucleotide variantNM_018557.3(LRP1B):c.9955G>A (p.Ala3319Thr)not provided [RCV001810696]uncertain significance2140456463140456463Humanname
9687036CV171333single nucleotide variantNM_018557.3(LRP1B):c.10187G>C (p.Cys3396Ser)Prostate cancer [RCV000149255]uncertain significance2140444437140444437Human2name
156400213CV2199039single nucleotide variantNM_018557.3(LRP1B):c.11728G>A (p.Asp3910Asn)not specified [RCV004080443]uncertain significance2140350961140350961Humanname
156387037CV2221385single nucleotide variantNM_018557.3(LRP1B):c.13381G>T (p.Val4461Leu)not specified [RCV004096684]uncertain significance2140239476140239476Humanname
156131996CV2235283single nucleotide variantNM_018557.3(LRP1B):c.11072G>T (p.Trp3691Leu)not specified [RCV004107322]uncertain significance2140364720140364720Humanname
156052161CV2238176single nucleotide variantNM_018557.3(LRP1B):c.12512A>C (p.Asp4171Ala)not specified [RCV004111176]uncertain significance2140323895140323895Humanname
156129300CV2238525single nucleotide variantNM_018557.3(LRP1B):c.13340T>C (p.Ile4447Thr)not specified [RCV004107143]uncertain significance2140239517140239517Humanname
155987329CV2248077single nucleotide variantNM_018557.3(LRP1B):c.10301A>G (p.Asn3434Ser)not specified [RCV004115354]uncertain significance2140442617140442617Humanname
156147559CV2265210single nucleotide variantNM_018557.3(LRP1B):c.10611T>G (p.Asp3537Glu)not specified [RCV004126327]uncertain significance2140378207140378207Humanname
156036982CV2283111single nucleotide variantNM_018557.3(LRP1B):c.12577A>G (p.Thr4193Ala)not specified [RCV004143715]uncertain significance2140322026140322026Humanname
156264121CV2289795single nucleotide variantNM_018557.3(LRP1B):c.11404G>A (p.Glu3802Lys)not specified [RCV004150473]uncertain significance2140356468140356468Humanname
156267270CV2305632single nucleotide variantNM_018557.3(LRP1B):c.13745G>A (p.Arg4582Lys)not specified [RCV004165638]uncertain significance2140233241140233241Humanname
156272317CV2315918single nucleotide variantNM_018557.3(LRP1B):c.12475A>G (p.Lys4159Glu)not specified [RCV004171685]uncertain significance2140323932140323932Humanname
156058443CV2316895single nucleotide variantNM_018557.3(LRP1B):c.10591A>G (p.Arg3531Gly)not specified [RCV004174415]uncertain significance2140378227140378227Humanname
156357498CV2318312single nucleotide variantNM_018557.3(LRP1B):c.12845C>A (p.Pro4282Gln)not specified [RCV004179480]uncertain significance2140297930140297930Humanname
156049962CV2319347single nucleotide variantNM_018557.3(LRP1B):c.10066A>G (p.Arg3356Gly)not specified [RCV004180172]uncertain significance2140444671140444671Humanname
156154274CV2328625single nucleotide variantNM_018557.3(LRP1B):c.13048C>G (p.Arg4350Gly)not specified [RCV004177877]uncertain significance2140274518140274518Humanname
156396781CV2330269single nucleotide variantNM_018557.3(LRP1B):c.11966C>T (p.Ser3989Phe)not specified [RCV004187718]uncertain significance2140335765140335765Humanname
155979860CV2339235single nucleotide variantNM_018557.3(LRP1B):c.11760T>A (p.Asn3920Lys)not specified [RCV004191476]uncertain significance2140350929140350929Humanname
156085233CV2340352single nucleotide variantNM_018557.3(LRP1B):c.10676G>A (p.Arg3559Gln)not specified [RCV004197084]likely benign2140373100140373100Humanname
156343495CV2349126single nucleotide variantNM_018557.3(LRP1B):c.10832T>C (p.Leu3611Ser)not specified [RCV004205968]uncertain significance2140371222140371222Humanname
156384020CV2361782single nucleotide variantNM_018557.3(LRP1B):c.10747G>A (p.Asp3583Asn)not specified [RCV004223255]uncertain significance2140373029140373029Humanname
155910205CV2369764single nucleotide variantNM_018557.3(LRP1B):c.13049G>A (p.Arg4350His)not specified [RCV004215152]uncertain significance2140274517140274517Humanname
156066818CV2381038single nucleotide variantNM_018557.3(LRP1B):c.10511A>G (p.Asn3504Ser)not specified [RCV004225077]uncertain significance2140385913140385913Humanname
155966521CV2396081single nucleotide variantNM_018557.3(LRP1B):c.11602G>A (p.Val3868Met)not specified [RCV004237615]uncertain significance2140353001140353001Humanname
329371165CV2431911single nucleotide variantNM_018557.3(LRP1B):c.12752A>G (p.Asn4251Ser)not specified [RCV004255043]uncertain significance2140314988140314988Humanname
329387846CV2440160single nucleotide variantNM_018557.3(LRP1B):c.11833G>A (p.Gly3945Arg)not specified [RCV004260614]uncertain significance2140350856140350856Humanname
329372092CV2442856single nucleotide variantNM_018557.3(LRP1B):c.11074G>A (p.Val3692Met)not specified [RCV004253466]uncertain significance2140364718140364718Humanname
329368515CV2453320single nucleotide variantNM_018557.3(LRP1B):c.12502A>G (p.Lys4168Glu)not specified [RCV004266949]uncertain significance2140323905140323905Humanname
401758126CV2682190single nucleotide variantNM_018557.3(LRP1B):c.11053C>G (p.Leu3685Val)not specified [RCV004290234]uncertain significance2140364739140364739Humanname
401772838CV2698001single nucleotide variantNM_018557.3(LRP1B):c.10547C>T (p.Thr3516Ile)not specified [RCV004302810]uncertain significance2140378271140378271Humanname
401717659CV2703951single nucleotide variantNM_018557.3(LRP1B):c.10804G>A (p.Ala3602Thr)not specified [RCV004308847]uncertain significance2140371250140371250Humanname
401721529CV2710010single nucleotide variantNM_018557.3(LRP1B):c.10790G>A (p.Arg3597His)not specified [RCV004315075]uncertain significance2140371264140371264Humanname
405657368CV2752313single nucleotide variantNM_018557.3(LRP1B):c.12253A>G (p.Ile4085Val)Inborn genetic diseases [RCV004011260]likely pathogenic2140325849140325849Human1name
401878602CV2772972single nucleotide variantNM_018557.3(LRP1B):c.11941G>A (p.Gly3981Arg)not specified [RCV004351428]uncertain significance2140335790140335790Humanname
401892510CV2782072single nucleotide variantNM_018557.3(LRP1B):c.10687G>A (p.Gly3563Ser)not specified [RCV004359068]uncertain significance2140373089140373089Humanname
401881236CV2784570single nucleotide variantNM_018557.3(LRP1B):c.13237C>T (p.Pro4413Ser)not specified [RCV004358725]uncertain significance2140270252140270252Humanname
401866126CV2786145single nucleotide variantNM_018557.3(LRP1B):c.12211C>G (p.Gln4071Glu)not specified [RCV004359951]uncertain significance2140334465140334465Humanname
401895297CV2786337single nucleotide variantNM_018557.3(LRP1B):c.13477C>G (p.Pro4493Ala)not specified [RCV004361942]uncertain significance2140238235140238235Humanname
405866909CV2842424single nucleotide variantNM_018557.3(LRP1B):c.11006G>T (p.Arg3669Ile)EBV-positive nodal T- and NK-cell lymphoma [RCV004557781]likely benign2140370712140370712Humanname
405292444CV3192391single nucleotide variantNM_018557.3(LRP1B):c.12790G>A (p.Val4264Ile)LRP1B-related disorder [RCV003929661]likely benign2140314950140314950Humanname , trait , alternate_id
405293467CV3192637single nucleotide variantNM_018557.3(LRP1B):c.12047C>T (p.Pro4016Leu)LRP1B-related disorder [RCV003931852]|not provided [RCV004810605]benign|likely benign2140335684140335684Humanname , trait , alternate_id
405277468CV3195795single nucleotide variantNM_018557.3(LRP1B):c.11816C>G (p.Thr3939Ser)LRP1B-related disorder [RCV003904327]|not provided [RCV005242471]likely benign2140350873140350873Humanname , trait , alternate_id
405275298CV3196197single nucleotide variantNM_018557.3(LRP1B):c.11200C>A (p.Gln3734Lys)LRP1B-related disorder [RCV003974076]benign2140358878140358878Humanname , trait , alternate_id
405275668CV3196386single nucleotide variantNM_018557.3(LRP1B):c.10405G>A (p.Ala3469Thr)LRP1B-related disorder [RCV003974226]benign2140442513140442513Humanname , trait , alternate_id
405285752CV3206578single nucleotide variantNM_018557.3(LRP1B):c.12790G>C (p.Val4264Leu)LRP1B-related disorder [RCV003981268]benign2140314950140314950Humanname , trait , alternate_id
405288040CV3210933single nucleotide variantNM_018557.3(LRP1B):c.10865G>C (p.Gly3622Ala)LRP1B-related disorder [RCV003924725]likely benign2140371189140371189Humanname , trait , alternate_id
405293660CV3214408single nucleotide variantNM_018557.3(LRP1B):c.11447C>T (p.Ala3816Val)LRP1B-related disorder [RCV003932095]benign2140356425140356425Humanname , trait , alternate_id
405259055CV3215253single nucleotide variantNM_018557.3(LRP1B):c.13687G>A (p.Ala4563Thr)LRP1B-related disorder [RCV003942289]likely benign2140233299140233299Humanname , trait , alternate_id
405288008CV3218038single nucleotide variantNM_018557.3(LRP1B):c.10844G>C (p.Gly3615Ala)LRP1B-related disorder [RCV003982162]benign2140371210140371210Humanname , trait , alternate_id
405818090CV3280760single nucleotide variantNM_018557.3(LRP1B):c.10242A>C (p.Leu3414Phe)not specified [RCV004413076]uncertain significance2140444382140444382Humanname
405818091CV3280761single nucleotide variantNM_018557.3(LRP1B):c.11018T>A (p.Ile3673Lys)not specified [RCV004413077]uncertain significance2140364774140364774Humanname
405818092CV3280762single nucleotide variantNM_018557.3(LRP1B):c.11186G>A (p.Cys3729Tyr)not specified [RCV004413078]uncertain significance2140358892140358892Humanname
405818093CV3280763single nucleotide variantNM_018557.3(LRP1B):c.11807T>C (p.Ile3936Thr)not specified [RCV004413079]uncertain significance2140350882140350882Humanname
405818094CV3280764single nucleotide variantNM_018557.3(LRP1B):c.12109A>G (p.Lys4037Glu)not specified [RCV004413080]uncertain significance2140335622140335622Humanname
405818095CV3280765single nucleotide variantNM_018557.3(LRP1B):c.12632G>A (p.Ser4211Asn)not specified [RCV004413081]uncertain significance2140321971140321971Humanname
405818096CV3280766single nucleotide variantNM_018557.3(LRP1B):c.12697G>C (p.Gly4233Arg)not specified [RCV004413082]uncertain significance2140315043140315043Humanname
405818266CV3280767single nucleotide variantNM_018557.3(LRP1B):c.12968A>G (p.Tyr4323Cys)not specified [RCV004413083]uncertain significance2140274598140274598Humanname
405818265CV3280768single nucleotide variantNM_018557.3(LRP1B):c.13075G>A (p.Asp4359Asn)not specified [RCV004413084]uncertain significance2140274491140274491Humanname
405818264CV3280769single nucleotide variantNM_018557.3(LRP1B):c.13129G>T (p.Asp4377Tyr)not specified [RCV004413085]uncertain significance2140274437140274437Humanname
405818263CV3280770single nucleotide variantNM_018557.3(LRP1B):c.13412G>A (p.Arg4471Lys)not specified [RCV004413086]uncertain significance2140239445140239445Humanname
405818262CV3280771single nucleotide variantNM_018557.3(LRP1B):c.13489A>C (p.Met4497Leu)not specified [RCV004413087]uncertain significance2140238223140238223Humanname
405871789CV3398070single nucleotide variantNM_018557.3(LRP1B):c.12970G>A (p.Val4324Met)not provided [RCV004575071]uncertain significance2140274596140274596Humanname
407472321CV3446177single nucleotide variantNM_018557.3(LRP1B):c.13045A>G (p.Thr4349Ala)not specified [RCV004637588]uncertain significance2140274521140274521Humanname
407461448CV3446182single nucleotide variantNM_018557.3(LRP1B):c.11881A>G (p.Ser3961Gly)not specified [RCV004634132]uncertain significance2140350808140350808Humanname
407472350CV3446185single nucleotide variantNM_018557.3(LRP1B):c.12026A>G (p.Asn4009Ser)not specified [RCV004637594]uncertain significance2140335705140335705Humanname
407472355CV3446186single nucleotide variantNM_018557.3(LRP1B):c.11960A>C (p.Asp3987Ala)not specified [RCV004637595]uncertain significance2140335771140335771Humanname
407472386CV3446196single nucleotide variantNM_018557.3(LRP1B):c.12841G>A (p.Gly4281Arg)not specified [RCV004637601]uncertain significance2140297934140297934Humanname
407472390CV3446198single nucleotide variantNM_018557.3(LRP1B):c.13666A>G (p.Asn4556Asp)not specified [RCV004637602]uncertain significance2140233320140233320Humanname
597625614CV3696454single nucleotide variantNM_018557.3(LRP1B):c.13538G>T (p.Gly4513Val)not specified [RCV004938289]uncertain significance2140238174140238174Humanname
597625602CV3696461single nucleotide variantNM_018557.3(LRP1B):c.12949G>A (p.Gly4317Arg)not specified [RCV004938294]uncertain significance2140297826140297826Humanname
597778366CV3696465single nucleotide variantNM_018557.3(LRP1B):c.11430T>A (p.Asn3810Lys)not specified [RCV004930113]uncertain significance2140356442140356442Humanname
597625456CV3696467single nucleotide variantNM_018557.3(LRP1B):c.12977A>G (p.His4326Arg)not specified [RCV004938298]uncertain significance2140274589140274589Humanname
597625458CV3696468single nucleotide variantNM_018557.3(LRP1B):c.11884G>A (p.Gly3962Ser)not specified [RCV004938299]uncertain significance2140350805140350805Humanname
597625466CV3696472single nucleotide variantNM_018557.3(LRP1B):c.13061C>G (p.Pro4354Arg)not specified [RCV004938302]uncertain significance2140274505140274505Humanname
597778380CV3696480single nucleotide variantNM_018557.3(LRP1B):c.12643G>A (p.Asp4215Asn)not specified [RCV004930116]uncertain significance2140315097140315097Humanname
597625493CV3696487single nucleotide variantNM_018557.3(LRP1B):c.10942A>G (p.Ile3648Val)not specified [RCV004938312]uncertain significance2140370776140370776Humanname
597778354CV3699498single nucleotide variantNM_018557.3(LRP1B):c.12714C>A (p.His4238Gln)not specified [RCV004930110]uncertain significance2140315026140315026Humanname
597625628CV3699499single nucleotide variantNM_018557.3(LRP1B):c.12280A>G (p.Ile4094Val)not specified [RCV004938283]likely benign2140325822140325822Humanname
597625617CV3699505single nucleotide variantNM_018557.3(LRP1B):c.11407T>A (p.Tyr3803Asn)not specified [RCV004938288]uncertain significance2140356465140356465Humanname
598128955CV3886758single nucleotide variantNM_018557.3(LRP1B):c.13676A>G (p.Asn4559Ser)not provided [RCV005244418]benign2140233310140233310Humanname
598250069CV3988015single nucleotide variantNM_018557.3(LRP1B):c.10686T>A (p.Asn3562Lys)not specified [RCV005366460]uncertain significance2140373090140373090Humanname
598250086CV3988018single nucleotide variantNM_018557.3(LRP1B):c.10337C>T (p.Thr3446Met)not specified [RCV005366462]uncertain significance2140442581140442581Humanname
598250094CV3988019single nucleotide variantNM_018557.3(LRP1B):c.13069G>A (p.Glu4357Lys)not specified [RCV005366463]uncertain significance2140274497140274497Humanname
598231280CV3988022single nucleotide variantNM_018557.3(LRP1B):c.11275G>A (p.Ala3759Thr)not specified [RCV005362836]uncertain significance2140358099140358099Humanname
598262310CV3988031single nucleotide variantNM_018557.3(LRP1B):c.13022G>T (p.Gly4341Val)not specified [RCV005348020]uncertain significance2140274544140274544Humanname
598250123CV3988032single nucleotide variantNM_018557.3(LRP1B):c.10430G>T (p.Gly3477Val)not specified [RCV005366467]uncertain significance2140385994140385994Humanname
598250135CV3988036single nucleotide variantNM_018557.3(LRP1B):c.12678A>T (p.Arg4226Ser)not specified [RCV005366469]uncertain significance2140315062140315062Humanname
598250143CV3988037single nucleotide variantNM_018557.3(LRP1B):c.10015G>A (p.Val3339Met)not specified [RCV005366470]uncertain significance2140450610140450610Humanname
598262326CV3988039single nucleotide variantNM_018557.3(LRP1B):c.11473G>C (p.Val3825Leu)not specified [RCV005348023]uncertain significance2140356399140356399Humanname
598231286CV3988042single nucleotide variantNM_018557.3(LRP1B):c.13180T>C (p.Cys4394Arg)not specified [RCV005362837]uncertain significance2140270309140270309Humanname
598262334CV3988046single nucleotide variantNM_018557.3(LRP1B):c.12392C>T (p.Ala4131Val)not specified [RCV005348025]uncertain significance2140324015140324015Humanname
598262339CV3988047single nucleotide variantNM_018557.3(LRP1B):c.13342G>T (p.Val4448Leu)not specified [RCV005348026]uncertain significance2140239515140239515Humanname
15183570CV697030single nucleotide variantNM_018557.3(LRP1B):c.13114A>T (p.Asn4372Tyr)LRP1B-related disorder [RCV003935793]|not provided [RCV000952496]benign|likely benign2140274452140274452Humanname , trait , alternate_id
15183576CV697032single nucleotide variantNM_018557.3(LRP1B):c.11227G>A (p.Gly3743Ser)LRP1B-related disorder [RCV003935794]|not provided [RCV000952497]benign|likely benign2140358851140358851Humanname , trait , alternate_id
15110538CV719264single nucleotide variantNM_018557.3(LRP1B):c.12497G>A (p.Arg4166His)LRP1B-related disorder [RCV003910646]|not provided [RCV000894086]likely benign2140323910140323910Humanname , trait , alternate_id
15147202CV732775single nucleotide variantNM_018557.3(LRP1B):c.12439T>G (p.Ser4147Ala)not provided [RCV000900469]likely benign2140323968140323968Humanname
15174424CV732776single nucleotide variantNM_018557.3(LRP1B):c.12161A>C (p.Glu4054Ala)LRP1B-related disorder [RCV003968316]|not provided [RCV000905962]benign|likely benign2140334515140334515Humanname , trait , alternate_id
15165234CV732777single nucleotide variantNM_018557.3(LRP1B):c.11517C>A (p.Asn3839Lys)LRP1B-related disorder [RCV003958188]|not provided [RCV000904177]benign2140356355140356355Humanname , trait , alternate_id
15165237CV732778single nucleotide variantNM_018557.3(LRP1B):c.11511G>A (p.Met3837Ile)LRP1B-related disorder [RCV003958189]|not provided [RCV000904178]benign2140356361140356361Humanname , trait , alternate_id
15159770CV746781single nucleotide variantNM_018557.3(LRP1B):c.10849T>C (p.Tyr3617His)not provided [RCV000925347]|not specified [RCV004029507]likely benign|uncertain significance2140371205140371205Humanname
8625138CV80257single nucleotide variantNM_018557.2(LRP1B):c.12145C>T (p.His4049Tyr)Malignant melanoma [RCV000060333]not provided2140334531140334531Humanname
8625139CV80258single nucleotide variantNM_018557.2(LRP1B):c.11915G>A (p.Arg3972Lys)Malignant melanoma [RCV000060334]not provided2140335816140335816Humanname
8625140CV80259single nucleotide variantNM_018557.2(LRP1B):c.10923T>A (p.Asn3641Lys)Malignant melanoma [RCV000060335]not provided2140370795140370795Humanname
8629867CV85014single nucleotide variantNM_018557.2(LRP1B):c.12301G>A (p.Asp4101Asn)Malignant melanoma [RCV000065096]not provided2140325801140325801Humanname
8629868CV85015single nucleotide variantNM_018557.2(LRP1B):c.12028G>A (p.Val4010Ile)Malignant melanoma [RCV000065097]not provided2140335703140335703Humanname