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


369 records found for search term Lmbr1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
9586959CV165718duplicationLMBR1, 73-KB DUPSyndactyly type 4 [RCV000144045]pathogenicHuman1name
8558348CV19944duplicationLMBR1, 235-KB DUP, IVS5Syndactyly type 4 [RCV000005186]pathogenicHuman1name
11590729CV302280single nucleotide variantNM_022458.4(LMBR1):c.*91C>TPolydactyly of a triphalangeal thumb [RCV000322088]|not provided [RCV001692041]benign7156683987156683987Human1name
11585646CV302281single nucleotide variantNM_022458.4(LMBR1):c.*36C>TPolydactyly of a triphalangeal thumb [RCV000282355]|not provided [RCV001683430]benign7156684042156684042Human1name
11605162CV305504single nucleotide variantNM_022458.4(LMBR1):c.*15G>APolydactyly of a triphalangeal thumb [RCV000316422]|not provided [RCV004712389]benign|likely benign7156684063156684063Human1name
11609940CV310406single nucleotide variantNM_022458.4(LMBR1):c.*89A>TPolydactyly of a triphalangeal thumb [RCV000374486]|not provided [RCV001707681]benign7156683989156683989Human1name
28906273CV897727single nucleotide variantNM_022458.4(LMBR1):c.*11C>TPolydactyly of a triphalangeal thumb [RCV001158885]benign7156684067156684067Human1name
28906464CV897734single nucleotide variantNM_022458.4(LMBR1):c.-91C>GPolydactyly of a triphalangeal thumb [RCV001158980]benign7156893084156893084Human1name
11651324CV302269single nucleotide variantNM_022458.4(LMBR1):c.*728G>APolydactyly of a triphalangeal thumb [RCV000298091]uncertain significance7156683350156683350Human1name
11589473CV302271single nucleotide variantNM_022458.4(LMBR1):c.*305G>APolydactyly of a triphalangeal thumb [RCV000310844]uncertain significance7156683773156683773Human1name
11594808CV302272single nucleotide variantNM_022458.4(LMBR1):c.*303T>CPolydactyly of a triphalangeal thumb [RCV000363154]benign|likely benign7156683775156683775Human1name
11657826CV302295single nucleotide variantNM_022458.4(LMBR1):c.-154G>APolydactyly of a triphalangeal thumb [RCV000344349]uncertain significance7156893147156893147Human1name
11653629CV305482single nucleotide variantNM_022458.4(LMBR1):c.*650A>GPolydactyly of a triphalangeal thumb [RCV000312008]uncertain significance7156683428156683428Human1name
11655135CV305484single nucleotide variantNM_022458.4(LMBR1):c.*166G>TPolydactyly of a triphalangeal thumb [RCV000323241]uncertain significance7156683912156683912Human1name
11599330CV305501single nucleotide variantNM_022458.4(LMBR1):c.*100T>GPolydactyly of a triphalangeal thumb [RCV000264631]benign7156683978156683978Human1name
11611509CV310282single nucleotide variantNM_022458.4(LMBR1):c.*685G>APolydactyly of a triphalangeal thumb [RCV000395754]benign|likely benign7156683393156683393Human1name
11660669CV310283single nucleotide variantNM_022458.4(LMBR1):c.*457C>GPolydactyly of a triphalangeal thumb [RCV000369069]uncertain significance7156683621156683621Human1name
11608174CV310395single nucleotide variantNM_022458.4(LMBR1):c.*722G>CPolydactyly of a triphalangeal thumb [RCV000351645]benign7156683356156683356Human1name
11600259CV310399single nucleotide variantNM_022458.4(LMBR1):c.*383T>CPolydactyly of a triphalangeal thumb [RCV000272143]|not provided [RCV004712388]benign7156683695156683695Human1name
11600098CV310400single nucleotide variantNM_022458.4(LMBR1):c.*246G>APolydactyly of a triphalangeal thumb [RCV000270903]uncertain significance7156683832156683832Human1name
11635654CV310404duplicationNM_022458.4(LMBR1):c.*136dupTriphalangeal thumb-polysyndactyly syndrome [RCV000380224]|not provided [RCV001643088]benign7156683941156683942Human1name
11664471CV310432single nucleotide variantNM_022458.4(LMBR1):c.-158G>APolydactyly of a triphalangeal thumb [RCV000405899]uncertain significance7156893151156893151Human1name
11648845CV310436single nucleotide variantNM_022458.4(LMBR1):c.-176G>APolydactyly of a triphalangeal thumb [RCV000284195]uncertain significance7156893169156893169Human1name
28870383CV897725single nucleotide variantNM_022458.4(LMBR1):c.*916C>APolydactyly of a triphalangeal thumb [RCV001163501]uncertain significance7156683162156683162Human1name
28871059CV897726single nucleotide variantNM_022458.4(LMBR1):c.*245C>TPolydactyly of a triphalangeal thumb [RCV001163796]|not provided [RCV004695061]uncertain significance7156683833156683833Human1name
28906467CV897735single nucleotide variantNM_022458.4(LMBR1):c.-146C>TPolydactyly of a triphalangeal thumb [RCV001158981]uncertain significance7156893139156893139Human1name
150421464CV1180312single nucleotide variantNM_022458.4(LMBR1):c.66+58C>Tnot provided [RCV001552029]likely benign7156892870156892870Humanname
150511083CV1213787single nucleotide variantNM_022458.4(LMBR1):c.66+32C>Tnot provided [RCV001597856]benign7156892896156892896Humanname
150504564CV1223975single nucleotide variantNM_022458.4(LMBR1):c.66+30T>Cnot provided [RCV001621624]benign7156892898156892898Humanname
150491733CV1239327single nucleotide variantNM_022458.4(LMBR1):c.66+77T>Gnot provided [RCV001654895]benign7156892851156892851Humanname
150443295CV1277838duplicationNM_022458.4(LMBR1):c.66+75dupnot provided [RCV001706981]benign7156892851156892852Humanname
11583315CV302229single nucleotide variantNM_022458.4(LMBR1):c.*2926G>CPolydactyly of a triphalangeal thumb [RCV000265910]benign|likely benign7156681152156681152Human1name
11596798CV302231single nucleotide variantNM_022458.4(LMBR1):c.*2667A>TPolydactyly of a triphalangeal thumb [RCV000386559]benign|likely benign7156681411156681411Human1name
11598452CV302235single nucleotide variantNM_022458.4(LMBR1):c.*2500A>GPolydactyly of a triphalangeal thumb [RCV000405749]likely benign|uncertain significance7156681578156681578Human1name
11592618CV302256single nucleotide variantNM_022458.4(LMBR1):c.*2089G>APolydactyly of a triphalangeal thumb [RCV000340371]|not provided [RCV004712383]benign7156681989156681989Human1name
11597743CV302261single nucleotide variantNM_022458.4(LMBR1):c.*2081G>APolydactyly of a triphalangeal thumb [RCV000397645]benign|likely benign7156681997156681997Human1name
11593916CV302262single nucleotide variantNM_022458.4(LMBR1):c.*2065A>GPolydactyly of a triphalangeal thumb [RCV000353352]benign|likely benign7156682013156682013Human1name
11596652CV302264single nucleotide variantNM_022458.4(LMBR1):c.*1797G>CPolydactyly of a triphalangeal thumb [RCV000384854]benign7156682281156682281Human1name
11585378CV302265single nucleotide variantNM_022458.4(LMBR1):c.*1357A>GPolydactyly of a triphalangeal thumb [RCV000280470]benign|likely benign7156682721156682721Human1name
11652567CV305453single nucleotide variantNM_022458.4(LMBR1):c.*3180A>CPolydactyly of a triphalangeal thumb [RCV000305668]uncertain significance7156680898156680898Human1name
11602202CV305454single nucleotide variantNM_022458.4(LMBR1):c.*2489T>CPolydactyly of a triphalangeal thumb [RCV000289082]benign|likely benign7156681589156681589Human1name
11603534CV305456single nucleotide variantNM_022458.4(LMBR1):c.*2066G>CPolydactyly of a triphalangeal thumb [RCV000300875]benign|likely benign7156682012156682012Human1name
11609363CV305458single nucleotide variantNM_022458.4(LMBR1):c.*1922A>GPolydactyly of a triphalangeal thumb [RCV000367361]benign7156682156156682156Human1name
11655616CV305461single nucleotide variantNM_022458.4(LMBR1):c.*1534A>GPolydactyly of a triphalangeal thumb [RCV000326915]uncertain significance7156682544156682544Human1name
11607059CV305463single nucleotide variantNM_022458.4(LMBR1):c.*1444T>GPolydactyly of a triphalangeal thumb [RCV000339133]|not provided [RCV004712386]benign7156682634156682634Human1name
11610141CV305480single nucleotide variantNM_022458.4(LMBR1):c.*1359G>APolydactyly of a triphalangeal thumb [RCV000377372]benign|likely benign7156682719156682719Human1name
11635532CV310236duplicationNM_022458.4(LMBR1):c.*2992dupTriphalangeal thumb-polysyndactyly syndrome [RCV000358154]benign7156681085156681086Human1name
11605367CV310238single nucleotide variantNM_022458.4(LMBR1):c.*2905T>APolydactyly of a triphalangeal thumb [RCV000318687]benign|likely benign7156681173156681173Human1name
11608594CV310241single nucleotide variantNM_022458.4(LMBR1):c.*2899A>TPolydactyly of a triphalangeal thumb [RCV000357234]uncertain significance7156681179156681179Human1name
11655968CV310242single nucleotide variantNM_022458.4(LMBR1):c.*2744G>TPolydactyly of a triphalangeal thumb [RCV000329749]uncertain significance7156681334156681334Human1name
11602352CV310248single nucleotide variantNM_022458.4(LMBR1):c.*2603A>GPolydactyly of a triphalangeal thumb [RCV000289881]|not provided [RCV004712381]benign7156681475156681475Human1name
11607750CV310256single nucleotide variantNM_022458.4(LMBR1):c.*2596A>GPolydactyly of a triphalangeal thumb [RCV000347074]|not provided [RCV004712382]benign|likely benign7156681482156681482Human1name
11605042CV310271single nucleotide variantNM_022458.4(LMBR1):c.*1971A>TPolydactyly of a triphalangeal thumb [RCV000315115]|not provided [RCV004712384]benign|likely benign7156682107156682107Human1name
11655815CV310272single nucleotide variantNM_022458.4(LMBR1):c.*1862T>APolydactyly of a triphalangeal thumb [RCV000328037]uncertain significance7156682216156682216Human1name
11610247CV310273single nucleotide variantNM_022458.4(LMBR1):c.*1470G>APolydactyly of a triphalangeal thumb [RCV000379220]|not provided [RCV004712385]benign|likely benign7156682608156682608Human1name
11657006CV310274duplicationNM_022458.4(LMBR1):c.*1338dupTriphalangeal thumb-polysyndactyly syndrome [RCV000337883]uncertain significance7156682739156682740Human1name
11612148CV310280single nucleotide variantNM_022458.4(LMBR1):c.*1325C>TPolydactyly of a triphalangeal thumb [RCV000404441]|not provided [RCV004712387]benign7156682753156682753Human1name
11598799CV310360single nucleotide variantNM_022458.4(LMBR1):c.*2820G>APolydactyly of a triphalangeal thumb [RCV000260048]benign|likely benign7156681258156681258Human1name
11605232CV310364single nucleotide variantNM_022458.4(LMBR1):c.*2798C>TPolydactyly of a triphalangeal thumb [RCV000317092]uncertain significance7156681280156681280Human1name
11662651CV310365single nucleotide variantNM_022458.4(LMBR1):c.*2773G>TPolydactyly of a triphalangeal thumb [RCV000387948]uncertain significance7156681305156681305Human1name
11603018CV310366single nucleotide variantNM_022458.4(LMBR1):c.*2761G>APolydactyly of a triphalangeal thumb [RCV000295827]benign|likely benign7156681317156681317Human1name
11607279CV310373single nucleotide variantNM_022458.4(LMBR1):c.*2477G>APolydactyly of a triphalangeal thumb [RCV000341690]likely benign|uncertain significance7156681601156681601Human1name
11612255CV310375single nucleotide variantNM_022458.4(LMBR1):c.*2297C>TPolydactyly of a triphalangeal thumb [RCV000405979]benign|uncertain significance7156681781156681781Human1name
11603662CV310377single nucleotide variantNM_022458.4(LMBR1):c.*2198C>GPolydactyly of a triphalangeal thumb [RCV000302109]benign|likely benign7156681880156681880Human1name
11600766CV310378single nucleotide variantNM_022458.4(LMBR1):c.*2016C>TPolydactyly of a triphalangeal thumb [RCV000276343]likely benign|uncertain significance7156682062156682062Human1name
11600619CV310386single nucleotide variantNM_022458.4(LMBR1):c.*1905C>GPolydactyly of a triphalangeal thumb [RCV000275166]benign7156682173156682173Human1name
11634709CV310388duplicationNM_022458.4(LMBR1):c.*1785dupTriphalangeal thumb-polysyndactyly syndrome [RCV000269455]benign7156682292156682293Human1name
11601939CV310389single nucleotide variantNM_022458.4(LMBR1):c.*1469C>TPolydactyly of a triphalangeal thumb [RCV000286478]benign|likely benign7156682609156682609Human1name
11666742CV353808single nucleotide variantNM_022458.4(LMBR1):c.*3207T>GPolydactyly of a triphalangeal thumb [RCV000375674]benign|likely benign7156680871156680871Human1name
597875226CV3743802single nucleotide variantNM_022458.4(LMBR1):c.684+3A>Gnot provided [RCV005069208]uncertain significance7156762131156762131Humanname
15170228CV759651single nucleotide variantNM_022458.4(LMBR1):c.551-6T>Anot provided [RCV000927655]likely benign7156763182156763182Humanname
28874500CV897701single nucleotide variantNM_022458.4(LMBR1):c.*3187A>GPolydactyly of a triphalangeal thumb [RCV001165394]|not provided [RCV004695077]uncertain significance7156680891156680891Human1name
28874504CV897702single nucleotide variantNM_022458.4(LMBR1):c.*2948G>TPolydactyly of a triphalangeal thumb [RCV001165395]uncertain significance7156681130156681130Human1name
28905877CV897703single nucleotide variantNM_022458.4(LMBR1):c.*2771G>APolydactyly of a triphalangeal thumb [RCV001158668]uncertain significance7156681307156681307Human1name
28905881CV897704single nucleotide variantNM_022458.4(LMBR1):c.*2706A>GPolydactyly of a triphalangeal thumb [RCV001158669]uncertain significance7156681372156681372Human1name
28905884CV897705single nucleotide variantNM_022458.4(LMBR1):c.*2658T>CPolydactyly of a triphalangeal thumb [RCV001158670]uncertain significance7156681420156681420Human1name
28905888CV897706single nucleotide variantNM_022458.4(LMBR1):c.*2609C>TPolydactyly of a triphalangeal thumb [RCV001158671]benign7156681469156681469Human1name
28867418CV897707single nucleotide variantNM_022458.4(LMBR1):c.*2519T>APolydactyly of a triphalangeal thumb [RCV001161875]uncertain significance7156681559156681559Human1name
28867419CV897708single nucleotide variantNM_022458.4(LMBR1):c.*2458A>GPolydactyly of a triphalangeal thumb [RCV001161876]uncertain significance7156681620156681620Human1name
28867421CV897709single nucleotide variantNM_022458.4(LMBR1):c.*2451C>APolydactyly of a triphalangeal thumb [RCV001161877]uncertain significance7156681627156681627Human1name
28870147CV897710single nucleotide variantNM_022458.4(LMBR1):c.*2262G>APolydactyly of a triphalangeal thumb [RCV001163406]uncertain significance7156681816156681816Human1name
28870151CV897711single nucleotide variantNM_022458.4(LMBR1):c.*2147T>CPolydactyly of a triphalangeal thumb [RCV001163407]uncertain significance7156681931156681931Human1name
28870152CV897712single nucleotide variantNM_022458.4(LMBR1):c.*2088C>TPolydactyly of a triphalangeal thumb [RCV001163408]uncertain significance7156681990156681990Human1name
28870155CV897713single nucleotide variantNM_022458.4(LMBR1):c.*2080C>TPolydactyly of a triphalangeal thumb [RCV001163409]uncertain significance7156681998156681998Human1name
28870855CV897714single nucleotide variantNM_022458.4(LMBR1):c.*2020T>CPolydactyly of a triphalangeal thumb [RCV001163695]uncertain significance7156682058156682058Human1name
28906087CV897715single nucleotide variantNM_022458.4(LMBR1):c.*1841T>APolydactyly of a triphalangeal thumb [RCV001158773]uncertain significance7156682237156682237Human1name
28906090CV897716single nucleotide variantNM_022458.4(LMBR1):c.*1608C>TPolydactyly of a triphalangeal thumb [RCV001158774]uncertain significance7156682470156682470Human1name
28906091CV897717single nucleotide variantNM_022458.4(LMBR1):c.*1560T>APolydactyly of a triphalangeal thumb [RCV001158775]uncertain significance7156682518156682518Human1name
28908477CV897718single nucleotide variantNM_022458.4(LMBR1):c.*1363G>TPolydactyly of a triphalangeal thumb [RCV001160126]uncertain significance7156682715156682715Human1name
28908481CV897719single nucleotide variantNM_022458.4(LMBR1):c.*1358C>TPolydactyly of a triphalangeal thumb [RCV001160127]uncertain significance7156682720156682720Human1name
28908483CV897720single nucleotide variantNM_022458.4(LMBR1):c.*1347A>GPolydactyly of a triphalangeal thumb [RCV001160128]uncertain significance7156682731156682731Human1name
28908486CV897721single nucleotide variantNM_022458.4(LMBR1):c.*1259C>TPolydactyly of a triphalangeal thumb [RCV001160129]uncertain significance7156682819156682819Human1name
28908487CV897722single nucleotide variantNM_022458.4(LMBR1):c.*1172C>TPolydactyly of a triphalangeal thumb [RCV001160130]uncertain significance7156682906156682906Human1name
28870377CV897723single nucleotide variantNM_022458.4(LMBR1):c.*1150A>GPolydactyly of a triphalangeal thumb [RCV001163499]uncertain significance7156682928156682928Human1name
28870380CV897724single nucleotide variantNM_022458.4(LMBR1):c.*1061A>GPolydactyly of a triphalangeal thumb [RCV001163500]benign7156683017156683017Human1name
150339983CV1168115single nucleotide variantNM_022458.4(LMBR1):c.839-79T>Anot provided [RCV001534828]benign7156728799156728799Humanname
150418510CV1197664single nucleotide variantNM_022458.4(LMBR1):c.66+192C>Tnot provided [RCV001576770]likely benign7156892736156892736Humanname
150511080CV1213786single nucleotide variantNM_022458.4(LMBR1):c.550+41C>Tnot provided [RCV001597855]benign7156763628156763628Humanname
150516161CV1216462single nucleotide variantNM_022458.4(LMBR1):c.66+227C>Gnot provided [RCV001608653]benign7156892701156892701Humanname
150465844CV1240309single nucleotide variantNM_022458.4(LMBR1):c.180-77G>Anot provided [RCV001650070]benign7156826821156826821Humanname
150502823CV1241656single nucleotide variantNM_022458.4(LMBR1):c.66+209G>Cnot provided [RCV001657247]benign7156892719156892719Humanname
150475295CV1251696duplicationNM_022458.4(LMBR1):c.67-297dupnot provided [RCV001671894]benign7156837170156837171Humanname
150505269CV1255428single nucleotide variantNM_022458.4(LMBR1):c.179+43G>Anot provided [RCV001677875]benign7156833710156833710Humanname
150497249CV1256674single nucleotide variantNM_022458.4(LMBR1):c.66+223C>Tnot provided [RCV001676166]benign7156892705156892705Humanname
150486589CV1262599deletionNM_022458.4(LMBR1):c.66+229delnot provided [RCV001686996]benign7156892699156892699Humanname
150500449CV1283572single nucleotide variantNM_022458.4(LMBR1):c.685-36C>Tnot provided [RCV001718395]benign7156756501156756501Humanname
152108590CV1548061single nucleotide variantNM_022458.4(LMBR1):c.180-20G>Tnot provided [RCV002174039]likely benign7156826764156826764Humanname
156292509CV2111480single nucleotide variantNM_022458.4(LMBR1):c.1068-1G>Anot provided [RCV002922213]likely pathogenic|uncertain significance7156725526156725526Humanname
156232127CV2156997single nucleotide variantNM_022458.4(LMBR1):c.619+13C>Gnot provided [RCV003025683]likely benign7156763095156763095Humanname
405093537CV3054704single nucleotide variantNM_022458.4(LMBR1):c.1068-8T>Cnot provided [RCV003717919]likely benign7156725533156725533Humanname
405094400CV3118927single nucleotide variantNM_022458.4(LMBR1):c.140-10A>Cnot provided [RCV003811378]likely benign7156833802156833802Humanname
405045428CV3137397single nucleotide variantNM_022458.4(LMBR1):c.140-19A>Gnot provided [RCV003831626]likely benign7156833811156833811Humanname
405169202CV3156897single nucleotide variantNM_022458.4(LMBR1):c.620-20T>Cnot provided [RCV003857601]likely benign7156762218156762218Humanname
597887804CV3741995single nucleotide variantNM_022458.4(LMBR1):c.993+19A>Gnot provided [RCV005070715]likely benign7156727911156727911Humanname
597971624CV3750783deletionNM_022458.4(LMBR1):c.838+18delnot provided [RCV005084527]benign7156734159156734159Humanname
597922651CV3839835single nucleotide variantNM_022458.4(LMBR1):c.1159-2A>Gnot provided [RCV005184574]uncertain significance7156724180156724180Humanname
13539341CV501989duplicationNM_022458.4(LMBR1):c.424-10dupnot provided [RCV005056308]|not specified [RCV000613148]likely benign7156763804156763805Humanname
13837129CV588414deletionNM_022458.4(LMBR1):c.684+10delnot provided [RCV000733438]uncertain significance7156762124156762124Humanname
15100644CV787407single nucleotide variantNM_022458.4(LMBR1):c.1159-4A>Tnot provided [RCV000975443]likely benign7156724182156724182Humanname
28906278CV900334single nucleotide variantNM_022458.4(LMBR1):c.1159-3C>TPolydactyly of a triphalangeal thumb [RCV001158887]benign7156724181156724181Human1name
150336309CV1164971single nucleotide variantNM_022458.4(LMBR1):c.685-187G>Anot provided [RCV001530787]likely benign7156756652156756652Humanname
150333087CV1171694single nucleotide variantNM_022458.4(LMBR1):c.758-154A>Gnot provided [RCV001539309]benign7156734411156734411Humanname
150332628CV1171695deletionNM_022458.4(LMBR1):c.550+224delnot provided [RCV001539128]benign7156763445156763445Humanname
150332129CV1171696single nucleotide variantNM_022458.4(LMBR1):c.550+169T>Anot provided [RCV001538914]likely benign7156763500156763500Humanname
150331184CV1171697duplicationNM_022458.4(LMBR1):c.424-218dupHoloprosencephaly 3 [RCV002071939]|not provided [RCV001538528]benign|likely benign7156764005156764006Human1name
150414256CV1176889single nucleotide variantNM_022458.4(LMBR1):c.684+203G>Anot provided [RCV001548049]likely benign7156761931156761931Humanname
150424465CV1183958single nucleotide variantNM_022458.4(LMBR1):c.180-146T>Cnot provided [RCV001556693]likely benign7156826890156826890Humanname
150427638CV1187218single nucleotide variantNM_022458.4(LMBR1):c.139+124C>Gnot provided [RCV001561195]likely benign7156836689156836689Humanname
150405614CV1190643single nucleotide variantNM_022458.4(LMBR1):c.916-176A>Cnot provided [RCV001564360]likely benign7156728183156728183Humanname
150415538CV1190644single nucleotide variantNM_022458.4(LMBR1):c.180-261T>Cnot provided [RCV001568027]likely benign7156827005156827005Humanname
150415625CV1197662single nucleotide variantNM_022458.4(LMBR1):c.424-237A>GHoloprosencephaly 3 [RCV002072260]|not provided [RCV001575486]benign|likely benign7156764032156764032Human1name
150417189CV1197663single nucleotide variantNM_022458.4(LMBR1):c.140-110T>Anot provided [RCV001576193]likely benign7156833902156833902Humanname
150513955CV1210785single nucleotide variantNM_022458.4(LMBR1):c.550+228T>Gnot provided [RCV001598826]benign7156763441156763441Humanname
150511308CV1212703single nucleotide variantNM_022458.4(LMBR1):c.1387+91C>Tnot provided [RCV001597934]benign7156687939156687939Humanname
150450451CV1215248single nucleotide variantNM_022458.4(LMBR1):c.140-209A>Gnot provided [RCV001611838]benign7156834001156834001Humanname
150434730CV1215962single nucleotide variantNM_022458.4(LMBR1):c.319+260C>Gnot provided [RCV001609151]benign7156826345156826345Humanname
150447325CV1216101duplicationNM_022458.4(LMBR1):c.684+142dupnot provided [RCV001611399]benign7156761976156761977Humanname
150466997CV1218284single nucleotide variantNM_022458.4(LMBR1):c.1159-79C>Anot provided [RCV001614410]benign7156724257156724257Humanname
150476541CV1218491single nucleotide variantNM_022458.4(LMBR1):c.619+208T>Cnot provided [RCV001616118]benign7156762900156762900Humanname
150440932CV1220239single nucleotide variantNM_022458.4(LMBR1):c.1068-40T>Cnot provided [RCV001610222]benign7156725565156725565Humanname
150485522CV1223014single nucleotide variantNM_022458.4(LMBR1):c.619+210G>Anot provided [RCV001617726]benign7156762898156762898Humanname
150460479CV1236257single nucleotide variantNM_022458.4(LMBR1):c.994-278A>Gnot provided [RCV001649228]benign7156726115156726115Humanname
150510082CV1248502single nucleotide variantNM_022458.4(LMBR1):c.685-196T>Anot provided [RCV001659571]benign7156756661156756661Humanname
150443084CV1249226single nucleotide variantNM_022458.4(LMBR1):c.180-215C>Tnot provided [RCV001666658]benign7156826959156826959Humanname
150464264CV1252648single nucleotide variantNM_022458.4(LMBR1):c.140-191C>Gnot provided [RCV001669972]benign7156833983156833983Humanname
150450102CV1254069single nucleotide variantNM_022458.4(LMBR1):c.320-301C>Tnot provided [RCV001667706]benign7156796793156796793Humanname
150503239CV1257748single nucleotide variantNM_022458.4(LMBR1):c.1159-84A>Gnot provided [RCV001677436]benign7156724262156724262Humanname
150495136CV1266177single nucleotide variantNM_022458.4(LMBR1):c.319+224T>Cnot provided [RCV001688499]benign7156826381156826381Humanname
150464983CV1277164single nucleotide variantNM_022458.4(LMBR1):c.139+272C>Tnot provided [RCV001710458]benign7156836541156836541Humanname
150484981CV1280615single nucleotide variantNM_022458.4(LMBR1):c.838+226C>Anot provided [RCV001715495]benign7156733951156733951Humanname
152026096CV1639252single nucleotide variantNM_022458.4(LMBR1):c.424-429C>Gnot provided [RCV002560760]likely benign7156764224156764224Humanname
11607067CV310336microsatelliteNM_022458.4(LMBR1):c.-183GCT[1]Triphalangeal thumb-polysyndactyly syndrome [RCV000339202]|not provided [RCV001653721]benign7156893171156893173Humanname
405096326CV3139809single nucleotide variantNM_022458.4(LMBR1):c.1159-15C>Tnot provided [RCV003835220]likely benign7156724193156724193Humanname
150422762CV1180311single nucleotide variantNM_022458.4(LMBR1):c.1226-261G>Anot provided [RCV001553081]likely benign7156688452156688452Humanname
150487640CV1208136single nucleotide variantNM_022458.4(LMBR1):c.423+4218T>Cnot provided [RCV001591996]likely benign7156792171156792171Humanname
150511999CV1242853single nucleotide variantNM_022458.4(LMBR1):c.423+3946T>Cnot provided [RCV001661207]benign7156792443156792443Humanname
150482822CV1247517single nucleotide variantNM_022458.4(LMBR1):c.1225+253A>Gnot provided [RCV001673343]benign7156723859156723859Humanname
8590681CV125389single nucleotide variantNM_022458.3(LMBR1):c.66+27899G>ALung cancer [RCV000105908]uncertain significance7156865029156865029Humanname
150505175CV1255403single nucleotide variantNM_022458.4(LMBR1):c.1388-207T>Cnot provided [RCV001677850]benign7156684370156684370Humanname
150440119CV1265063single nucleotide variantNM_022458.4(LMBR1):c.1226-251G>Anot provided [RCV001679056]benign7156688442156688442Humanname
150444549CV1266547single nucleotide variantNM_022458.4(LMBR1):c.423+3899G>Cnot provided [RCV001690984]benign7156792490156792490Humanname
150460231CV1268465single nucleotide variantNM_022458.4(LMBR1):c.1226-298T>Anot provided [RCV001693462]benign7156688489156688489Humanname
150447074CV1270253single nucleotide variantNM_022458.4(LMBR1):c.1158+122A>Gnot provided [RCV001691387]benign7156725313156725313Humanname
150466994CV1277496single nucleotide variantNM_022458.4(LMBR1):c.423+4179G>Anot provided [RCV001710791]benign7156792210156792210Humanname
150534391CV1302008single nucleotide variantNM_022458.4(LMBR1):c.423+4916T>Cnot provided [RCV001757226]uncertain significance7156791473156791473Humanname
8591255CV131903single nucleotide variantNM_022458.4(LMBR1):c.423+4915C>TPolydactyly of a triphalangeal thumb [RCV000148024]|Tibia, hypoplasia or aplasia of, with polydactyly [RCV000148025]|Triphalangeal thumb [RCV000148023]|not provided [RCV001854530]pathogenic|not provided7156791474156791474Human4name
151751787CV1357423single nucleotide variantNM_022458.4(LMBR1):c.423+3747A>Gnot provided [RCV001894404]uncertain significance7156792642156792642Humanname
152127720CV1554261single nucleotide variantNM_022458.4(LMBR1):c.423+5045A>GSHH-related disorder [RCV004738553]|not provided [RCV002176386]likely benign7156791344156791344Humanname
152092985CV1584571single nucleotide variantNM_022458.4(LMBR1):c.423+5072A>Gnot provided [RCV002114329]likely benign|uncertain significance7156791317156791317Humanname
152111029CV1617793single nucleotide variantNM_022458.4(LMBR1):c.423+3777C>Tnot provided [RCV002116543]likely benign7156792612156792612Humanname
152122477CV1631949duplicationNM_022458.4(LMBR1):c.423+5061dupnot provided [RCV002118024]benign7156791327156791328Humanname
9586960CV165719single nucleotide variantNM_022458.4(LMBR1):c.423+4919A>GAcheiropodia [RCV004796040]|Tibia, hypoplasia or aplasia of, with polydactyly [RCV003991466]|not provided [RCV004719711]pathogenic|likely pathogenic7156791470156791470Human2name
156221236CV1879291single nucleotide variantNM_022458.4(LMBR1):c.423+4656A>GSHH-related disorder [RCV004550368]|not provided [RCV003058947]likely benign7156791733156791733Humanname
156257756CV1906340single nucleotide variantNM_022458.4(LMBR1):c.423+5034A>Gnot provided [RCV003086332]likely benign7156791355156791355Humanname
156268145CV1915129single nucleotide variantNM_022458.4(LMBR1):c.423+5195G>Cnot provided [RCV002628000]likely benign7156791194156791194Humanname
156404345CV1916525single nucleotide variantNM_022458.4(LMBR1):c.423+4768G>Tnot provided [RCV002606074]likely benign7156791621156791621Humanname
156298288CV1919805single nucleotide variantNM_022458.4(LMBR1):c.423+4584T>Cnot provided [RCV002599045]likely benign7156791805156791805Humanname
156208264CV1959464single nucleotide variantNM_022458.4(LMBR1):c.423+3575C>Tnot provided [RCV002575051]likely benign7156792814156792814Humanname
156135290CV1962889single nucleotide variantNM_022458.4(LMBR1):c.423+3768A>Gnot provided [RCV002572374]likely benign7156792621156792621Humanname
156005740CV1984415single nucleotide variantNM_022458.4(LMBR1):c.423+5256T>Gnot provided [RCV002618658]likely pathogenic|uncertain significance7156791133156791133Humanname
8558340CV19936single nucleotide variantNM_022458.4(LMBR1):c.423+4618C>GPolydactyly of a triphalangeal thumb [RCV000005175]pathogenic7156791771156791771Human1name
8558341CV19937single nucleotide variantNM_022458.4(LMBR1):c.423+4917G>ATibia, hypoplasia or aplasia of, with polydactyly [RCV000005176]pathogenic7156791472156791472Human1name
8558342CV19938single nucleotide variantNM_022458.4(LMBR1):c.423+4818A>TPolydactyly of a triphalangeal thumb [RCV000005177]pathogenic7156791571156791571Human1name
8558343CV19939single nucleotide variantNM_022458.4(LMBR1):c.423+4842T>CPolydactyly of a triphalangeal thumb [RCV000005178]|Triphalangeal thumb [RCV000005179]pathogenic7156791547156791547Human3name
8558345CV19941single nucleotide variantNM_022458.4(LMBR1):c.423+5252A>GPolydactyly of a triphalangeal thumb [RCV000005181]|Triphalangeal thumb [RCV000005182]|not provided [RCV002512797]pathogenic7156791137156791137Human3name
8558346CV19942single nucleotide variantNM_022458.4(LMBR1):c.423+5134C>GPolydactyly of a triphalangeal thumb [RCV000005183]|Triphalangeal thumb [RCV000005184]pathogenic7156791255156791255Human3name
8558349CV19945single nucleotide variantNM_022458.4(LMBR1):c.423+4808T>CPolydactyly of a triphalangeal thumb [RCV000005188]|Triphalangeal thumb [RCV000005187]|not provided [RCV002512798]pathogenic7156791581156791581Human3name
8558350CV19946single nucleotide variantNM_022458.4(LMBR1):c.423+4909C>TPolydactyly of a triphalangeal thumb [RCV000005189]|not provided [RCV005089175]pathogenic|uncertain significance7156791480156791480Human1name
156219322CV2047819deletionNM_022458.4(LMBR1):c.423+3908delnot provided [RCV002790569]likely benign7156792481156792481Humanname
156054796CV2089808single nucleotide variantNM_022458.4(LMBR1):c.423+4794A>Gnot provided [RCV002867903]likely benign|uncertain significance7156791595156791595Humanname
156029210CV2131559single nucleotide variantNM_022458.4(LMBR1):c.423+5155G>Tnot provided [RCV002976528]likely benign7156791234156791234Humanname
156141946CV2138012single nucleotide variantNM_022458.4(LMBR1):c.423+4543C>Tnot provided [RCV002982345]likely benign7156791846156791846Humanname
156207122CV2160219single nucleotide variantNM_022458.4(LMBR1):c.423+3706T>Cnot provided [RCV003042193]likely benign|uncertain significance7156792683156792683Humanname
329847377CV2524211single nucleotide variantNM_022458.4(LMBR1):c.423+5284C>Tnot provided [RCV003227103]uncertain significance7156791105156791105Humanname
401914191CV2799204single nucleotide variantNM_022458.4(LMBR1):c.423+5362C>TLMBR1-related disorder [RCV003400346]uncertain significance7156791027156791027Humanname , trait , alternate_id
401907262CV2800174single nucleotide variantNM_022458.4(LMBR1):c.758-2293G>CLMBR1-related disorder [RCV003397309]uncertain significance7156736550156736550Humanname , trait , alternate_id
401931820CV2801818single nucleotide variantNM_022458.4(LMBR1):c.423+4844T>ALMBR1-related disorder [RCV003391618]uncertain significance7156791545156791545Humanname , trait , alternate_id
405046126CV2859761single nucleotide variantNM_022458.4(LMBR1):c.423+4628G>Anot provided [RCV003579332]benign7156791761156791761Humanname
405063533CV2868543single nucleotide variantNM_022458.4(LMBR1):c.423+5082T>Gnot provided [RCV003548076]likely benign7156791307156791307Humanname
402496100CV2875305single nucleotide variantNM_022458.4(LMBR1):c.423+4831T>Anot provided [RCV003545436]likely benign7156791558156791558Humanname
405062074CV3030026single nucleotide variantNM_022458.4(LMBR1):c.423+5068G>Anot provided [RCV003697689]likely benign|uncertain significance7156791321156791321Humanname
405094251CV3118888single nucleotide variantNM_022458.4(LMBR1):c.423+3537A>Gnot provided [RCV003811339]likely benign7156792852156792852Humanname
405088931CV3122212single nucleotide variantNM_022458.4(LMBR1):c.423+3863G>Cnot provided [RCV003810967]likely benign7156792526156792526Humanname
405207501CV3149284single nucleotide variantNM_022458.4(LMBR1):c.423+4800C>Tnot provided [RCV003845194]likely benign7156791589156791589Humanname
402504748CV3181494single nucleotide variantNM_022458.4(LMBR1):c.423+5285G>Anot provided [RCV003878328]likely benign|uncertain significance7156791104156791104Humanname
405288660CV3193767single nucleotide variantNM_022458.4(LMBR1):c.423+4023A>TLMBR1-related disorder [RCV003982773]likely benign7156792366156792366Humanname , trait , alternate_id
405285645CV3209701single nucleotide variantNM_022458.4(LMBR1):c.423+4235G>TLMBR1-related disorder [RCV003959270]likely benign7156792154156792154Humanname , trait , alternate_id
405292895CV3210450single nucleotide variantNM_022458.4(LMBR1):c.423+4149G>ALMBR1-related disorder [RCV003931414]likely benign7156792240156792240Humanname , trait , alternate_id
405267662CV3219386single nucleotide variantNM_022458.4(LMBR1):c.423+4801A>GSHH-related disorder [RCV004554453]|not provided [RCV005064898]likely benign7156791588156791588Humanname
408372772CV3512547single nucleotide variantNM_022458.4(LMBR1):c.423+5055G>TLMBR1-related disorder [RCV004743868]uncertain significance7156791334156791334Humanname , trait , alternate_id
408373509CV3516078single nucleotide variantNM_022458.4(LMBR1):c.423+4260T>CLMBR1-related disorder [RCV004745014]uncertain significance7156792129156792129Humanname , trait , alternate_id
408383789CV3525842single nucleotide variantNM_022458.4(LMBR1):c.423+4917G>Tnot specified [RCV004766752]uncertain significance7156791472156791472Humanname
597840425CV3737174single nucleotide variantNM_022458.4(LMBR1):c.423+3792C>Tnot provided [RCV005064654]likely benign7156792597156792597Humanname
597919867CV3738010single nucleotide variantNM_022458.4(LMBR1):c.423+3705A>Gnot provided [RCV005074609]likely benign7156792684156792684Humanname
597854723CV3747646duplicationNM_022458.4(LMBR1):c.423+3908dupnot provided [RCV005066657]uncertain significance7156792480156792481Humanname
597967389CV3751823single nucleotide variantNM_022458.4(LMBR1):c.423+4664A>Gnot provided [RCV005083193]likely benign7156791725156791725Humanname
597847572CV3762058single nucleotide variantNM_022458.4(LMBR1):c.423+4924A>Gnot provided [RCV005087476]likely benign7156791465156791465Humanname
597969986CV3791702single nucleotide variantNM_022458.4(LMBR1):c.423+5087G>Anot provided [RCV005141519]likely benign7156791302156791302Humanname
616939071CV4015399single nucleotide variantNM_022458.4(LMBR1):c.423+4914A>Gnot provided [RCV005412910]likely pathogenic7156791475156791475Humanname
12906954CV415092single nucleotide variantNM_022458.4(LMBR1):c.423+4545T>Cnot provided [RCV000489851]conflicting interpretations of pathogenicity|uncertain significance7156791844156791844Humanname
13537649CV501994single nucleotide variantNM_022458.4(LMBR1):c.423+5176A>Gnot provided [RCV005091716]|not specified [RCV000610695]benign|likely benign7156791213156791213Humanname
14711258CV662907single nucleotide variantNM_022458.4(LMBR1):c.423+5020C>Gnot provided [RCV000827978]benign|likely benign7156791369156791369Humanname
15158520CV699961single nucleotide variantNM_022458.4(LMBR1):c.423+4516C>Gnot provided [RCV000947088]benign7156791873156791873Humanname
15165633CV710894single nucleotide variantNM_022458.4(LMBR1):c.423+5311T>Cnot provided [RCV003656089]benign7156791078156791078Humanname
405239480CV2979798deletionNM_022458.4(LMBR1):c.916-2_916delnot provided [RCV003683732]likely pathogenic|uncertain significance7156728007156728009Humanname
150507111CV1211093deletionNM_022458.4(LMBR1):c.66+77_66+83delnot provided [RCV001596211]benign7156892845156892851Humanname
150455552CV1277810duplicationNM_022458.4(LMBR1):c.67-297_67-296dupnot provided [RCV001708987]benign7156837170156837171Humanname
150486964CV1283713deletionNM_022458.4(LMBR1):c.66+172_66+176delnot provided [RCV001715872]benign7156892752156892756Humanname
156437679CV1947689single nucleotide variantNM_022458.4(LMBR1):c.96C>T (p.Tyr32=)not provided [RCV003107219]likely benign7156836856156836856Humanname
156181740CV2288198single nucleotide variantNM_022458.4(LMBR1):c.19G>A (p.Val7Met)Inborn genetic diseases [RCV002873709]uncertain significance7156892975156892975Human1name
11602585CV305506single nucleotide variantNM_022458.4(LMBR1):c.16G>A (p.Glu6Lys)Inborn genetic diseases [RCV002519504]|Polydactyly of a triphalangeal thumb [RCV000291723]|not provided [RCV000598270]benign|likely benign|uncertain significance7156892978156892978Human2name
11602663CV310431single nucleotide variantNM_022458.4(LMBR1):c.204C>T (p.Leu68=)Polydactyly of a triphalangeal thumb [RCV000292725]likely benign|uncertain significance7156826720156826720Human1name
597902360CV3804492single nucleotide variantNM_022458.4(LMBR1):c.25G>A (p.Ala9Thr)Inborn genetic diseases [RCV005358224]|not provided [RCV005152927]uncertain significance7156892969156892969Human1name
28871337CV897733single nucleotide variantNM_022458.4(LMBR1):c.165C>T (p.Ile55=)Polydactyly of a triphalangeal thumb [RCV001163918]benign7156833767156833767Human1name
150335842CV1164972duplicationNM_022458.4(LMBR1):c.684+142_684+156dupnot provided [RCV001530575]likely benign7156761976156761977Humanname
150424324CV1183957duplicationNM_022458.4(LMBR1):c.684+142_684+155dupnot provided [RCV001556513]likely benign7156761976156761977Humanname
150477053CV1203132duplicationNM_022458.4(LMBR1):c.684+142_684+146dupnot provided [RCV001589726]likely benign7156761976156761977Humanname
150511138CV1213806duplicationNM_022458.4(LMBR1):c.684+142_684+154dupnot provided [RCV001597875]benign7156761976156761977Humanname
150470605CV1219705duplicationNM_022458.4(LMBR1):c.684+142_684+143dupnot provided [RCV001615030]benign7156761976156761977Humanname
150500296CV1224761microsatelliteNM_022458.4(LMBR1):c.619+272_619+275delnot provided [RCV001620593]benign7156762833156762836Humanname
150506864CV1226450deletionNM_022458.4(LMBR1):c.179+171_179+173delnot provided [RCV001635818]benign7156833580156833582Humanname
11580868CV267812single nucleotide variantNM_022458.4(LMBR1):c.843G>A (p.Arg281=)Polydactyly of a triphalangeal thumb [RCV000347140]|not provided [RCV000375873]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance7156728716156728716Human1name
11579375CV268089single nucleotide variantNM_022458.4(LMBR1):c.528C>G (p.Ala176=)Polydactyly of a triphalangeal thumb [RCV000302035]|not provided [RCV000955386]|not specified [RCV000274966]benign|likely benign7156763691156763691Human1name
405194887CV2925791single nucleotide variantNM_022458.4(LMBR1):c.621G>A (p.Leu207=)not provided [RCV003565260]likely benign7156762197156762197Humanname
11594431CV302290single nucleotide variantNM_022458.4(LMBR1):c.474G>A (p.Ala158=)Polydactyly of a triphalangeal thumb [RCV000359191]|not provided [RCV002519503]benign|likely benign7156763745156763745Human1name
11582749CV302292single nucleotide variantNM_022458.4(LMBR1):c.462T>G (p.Leu154=)Polydactyly of a triphalangeal thumb [RCV000261847]|not provided [RCV005055930]likely benign|uncertain significance7156763757156763757Human1name
11596558CV302294single nucleotide variantNM_022458.4(LMBR1):c.52G>T (p.Val18Leu)Polydactyly of a triphalangeal thumb [RCV000383646]likely benign|uncertain significance7156892942156892942Human1name
11605449CV310313single nucleotide variantNM_022458.4(LMBR1):c.435C>T (p.Ala145=)Polydactyly of a triphalangeal thumb [RCV000319643]benign|likely benign7156763784156763784Human1name
11606433CV310335single nucleotide variantNM_022458.4(LMBR1):c.61T>A (p.Ser21Thr)Polydactyly of a triphalangeal thumb [RCV000331447]|not provided [RCV003736746]benign|uncertain significance7156892933156892933Human1name
11608321CV310408single nucleotide variantNM_022458.4(LMBR1):c.432A>G (p.Arg144=)LMBR1-related disorder [RCV003912539]|Polydactyly of a triphalangeal thumb [RCV000353427]benign|likely benign7156763787156763787Human2name , trait , alternate_id
11598878CV310415single nucleotide variantNM_022458.4(LMBR1):c.357T>C (p.Cys119=)Polydactyly of a triphalangeal thumb [RCV000260814]|not provided [RCV001636989]benign7156796455156796455Human1name
407470770CV3449175single nucleotide variantNM_022458.4(LMBR1):c.67A>G (p.Ile23Val)Inborn genetic diseases [RCV004637190]uncertain significance7156836885156836885Human1name
407470783CV3449180single nucleotide variantNM_022458.4(LMBR1):c.61T>C (p.Ser21Pro)Inborn genetic diseases [RCV004637194]uncertain significance7156892933156892933Human1name
597937985CV3760020single nucleotide variantNM_022458.4(LMBR1):c.52G>A (p.Val18Met)not provided [RCV005076944]uncertain significance7156892942156892942Humanname
597872536CV3849516single nucleotide variantNM_022458.4(LMBR1):c.450T>A (p.Thr150=)not provided [RCV005197697]likely benign7156763769156763769Humanname
598237893CV3981004single nucleotide variantNM_022458.4(LMBR1):c.55C>T (p.Arg19Trp)Inborn genetic diseases [RCV005364158]uncertain significance7156892939156892939Human1name
15161941CV750537single nucleotide variantNM_022458.4(LMBR1):c.816A>G (p.Val272=)not provided [RCV000925789]likely benign7156734199156734199Humanname
15140865CV750538single nucleotide variantNM_022458.4(LMBR1):c.384T>C (p.Phe128=)not provided [RCV000921746]likely benign7156796428156796428Humanname
28870628CV897731single nucleotide variantNM_022458.4(LMBR1):c.627A>G (p.Thr209=)Polydactyly of a triphalangeal thumb [RCV001163599]uncertain significance7156762191156762191Human1name
156183101CV2327946single nucleotide variantNM_022458.4(LMBR1):c.205G>A (p.Ala69Thr)Inborn genetic diseases [RCV002930534]uncertain significance7156826719156826719Human1name
11586710CV302285single nucleotide variantNM_022458.4(LMBR1):c.1083C>T (p.Ser361=)Polydactyly of a triphalangeal thumb [RCV000289958]|not provided [RCV002523588]likely benign|uncertain significance7156725510156725510Human1name
11607894CV310290single nucleotide variantNM_022458.4(LMBR1):c.1095C>T (p.Gly365=)Polydactyly of a triphalangeal thumb [RCV000348447]|not provided [RCV001712350]benign7156725498156725498Human1name
11611137CV310295single nucleotide variantNM_022458.4(LMBR1):c.1092C>T (p.Val364=)Polydactyly of a triphalangeal thumb [RCV000390574]|not provided [RCV001712545]benign7156725501156725501Human1name
11662783CV310429single nucleotide variantNM_022458.4(LMBR1):c.240C>G (p.Phe80Leu)Polydactyly of a triphalangeal thumb [RCV000389440]uncertain significance7156826684156826684Human1name
405072509CV3140398single nucleotide variantNM_022458.4(LMBR1):c.145C>T (p.Gln49Ter)not provided [RCV003833553]pathogenic|uncertain significance7156833787156833787Humanname
597701788CV3693273single nucleotide variantNM_022458.4(LMBR1):c.144A>T (p.Glu48Asp)Inborn genetic diseases [RCV004988137]uncertain significance7156833788156833788Human1name
597849676CV3793122single nucleotide variantNM_022458.4(LMBR1):c.1095C>G (p.Gly365=)not provided [RCV005145258]likely benign7156725498156725498Humanname
597892916CV3833355single nucleotide variantNM_022458.4(LMBR1):c.289A>G (p.Ile97Val)not provided [RCV005180047]uncertain significance7156826635156826635Humanname
598237899CV3981005single nucleotide variantNM_022458.4(LMBR1):c.254A>G (p.Asn85Ser)Inborn genetic diseases [RCV005364159]uncertain significance7156826670156826670Human1name
15195503CV766196single nucleotide variantNM_022458.4(LMBR1):c.1293A>G (p.Val431=)not provided [RCV000933956]likely benign7156688124156688124Humanname
28906275CV897728single nucleotide variantNM_022458.4(LMBR1):c.1233T>C (p.Thr411=)Polydactyly of a triphalangeal thumb [RCV001158886]likely benign7156688184156688184Human1name
28908701CV897729single nucleotide variantNM_022458.4(LMBR1):c.1026G>A (p.Thr342=)Polydactyly of a triphalangeal thumb [RCV001160227]benign7156725805156725805Human1name
126912805CV1037768single nucleotide variantNM_022458.4(LMBR1):c.535A>T (p.Met179Leu)Inborn genetic diseases [RCV003169764]|not provided [RCV001356812]uncertain significance7156763684156763684Human1name
8647099CV106735single nucleotide variantNM_022458.4(LMBR1):c.460C>A (p.Leu154Ile)not provided [RCV000087237]uncertain significance7156763759156763759Humanname
150542733CV1302688single nucleotide variantNM_022458.4(LMBR1):c.748C>T (p.Arg250Ter)not provided [RCV001761378]uncertain significance7156756402156756402Humanname
151762330CV1369685single nucleotide variantNM_022458.4(LMBR1):c.391C>G (p.Leu131Val)not provided [RCV001928671]uncertain significance7156796421156796421Humanname
151738325CV1437386single nucleotide variantNM_022458.4(LMBR1):c.715A>G (p.Ile239Val)Inborn genetic diseases [RCV004040480]|not provided [RCV001870758]uncertain significance7156756435156756435Human1name
156374263CV1932997single nucleotide variantNM_022458.4(LMBR1):c.697C>G (p.Leu233Val)not provided [RCV002633687]uncertain significance7156756453156756453Humanname
10052843CV195414single nucleotide variantNM_022458.4(LMBR1):c.453G>T (p.Leu151Phe)Acheiropodia [RCV005396549]|not provided [RCV000179524]uncertain significance7156763766156763766Human1name
156174322CV2284250single nucleotide variantNM_022458.4(LMBR1):c.787A>G (p.Met263Val)Inborn genetic diseases [RCV002873284]uncertain significance7156734228156734228Human1name
155973143CV2335882single nucleotide variantNM_022458.4(LMBR1):c.328A>C (p.Asn110His)Inborn genetic diseases [RCV002973164]uncertain significance7156796484156796484Human1name
155928652CV2346781single nucleotide variantNM_022458.4(LMBR1):c.698T>C (p.Leu233Pro)Inborn genetic diseases [RCV002970394]uncertain significance7156756452156756452Human1name
243050014CV2417303single nucleotide variantNM_022458.4(LMBR1):c.844C>T (p.Arg282Ter)Acheiropodia [RCV005356370]|not provided [RCV003152175]uncertain significance7156728715156728715Human1name
401781827CV2678315single nucleotide variantNM_022458.4(LMBR1):c.655G>A (p.Val219Met)Inborn genetic diseases [RCV003265407]uncertain significance7156762163156762163Human1name
401718876CV2704845single nucleotide variantNM_022458.4(LMBR1):c.494T>C (p.Val165Ala)Inborn genetic diseases [RCV003266695]uncertain significance7156763725156763725Human1name
401931704CV2801403single nucleotide variantNM_022458.4(LMBR1):c.631G>A (p.Val211Ile)LMBR1-related disorder [RCV003408443]uncertain significance7156762187156762187Humanname , trait , alternate_id
405137712CV2963200single nucleotide variantNM_022458.4(LMBR1):c.500T>C (p.Val167Ala)not provided [RCV003668879]uncertain significance7156763719156763719Humanname
11589000CV302286single nucleotide variantNM_022458.4(LMBR1):c.682A>G (p.Thr228Ala)Polydactyly of a triphalangeal thumb [RCV000307548]|not provided [RCV001535352]benign7156762136156762136Human1name
11611485CV305505single nucleotide variantNM_022458.4(LMBR1):c.770C>T (p.Ser257Leu)Polydactyly of a triphalangeal thumb [RCV000395503]benign|likely benign7156734245156734245Human1name
11611488CV310307single nucleotide variantNM_022458.4(LMBR1):c.529G>A (p.Ala177Thr)Polydactyly of a triphalangeal thumb [RCV000395510]uncertain significance7156763690156763690Human1name
11608822CV310407single nucleotide variantNM_022458.4(LMBR1):c.665A>C (p.Gln222Pro)Polydactyly of a triphalangeal thumb [RCV000359894]|not provided [RCV001861301]benign|uncertain significance7156762153156762153Human1name
11606495CV310420single nucleotide variantNM_022458.4(LMBR1):c.350A>G (p.Asn117Ser)Inborn genetic diseases [RCV002523589]|Polydactyly of a triphalangeal thumb [RCV000332422]|not provided [RCV003546549]likely benign|uncertain significance7156796462156796462Human2name
405809558CV3287614single nucleotide variantNM_022458.4(LMBR1):c.744G>C (p.Gln248His)Inborn genetic diseases [RCV004407576]uncertain significance7156756406156756406Human1name
405809561CV3287615single nucleotide variantNM_022458.4(LMBR1):c.833A>G (p.Lys278Arg)Inborn genetic diseases [RCV004407577]uncertain significance7156734182156734182Human1name
407470768CV3449174single nucleotide variantNM_022458.4(LMBR1):c.928C>G (p.Leu310Val)Inborn genetic diseases [RCV004637189]uncertain significance7156727995156727995Human1name
407461055CV3449176single nucleotide variantNM_022458.4(LMBR1):c.860C>T (p.Ala287Val)Inborn genetic diseases [RCV004634027]uncertain significance7156728699156728699Human1name
408382371CV3504538single nucleotide variantNM_022458.4(LMBR1):c.517G>A (p.Asp173Asn)LMBR1-related disorder [RCV004729835]uncertain significance7156763702156763702Humanname , trait , alternate_id
408375584CV3506436duplicationNM_022458.4(LMBR1):c.423+4584_423+4593dupLMBR1-related disorder [RCV004726291]uncertain significance7156791795156791796Humanname , trait , alternate_id
597701796CV3693275single nucleotide variantNM_022458.4(LMBR1):c.706C>A (p.Gln236Lys)Inborn genetic diseases [RCV004988138]uncertain significance7156756444156756444Human1name
597701802CV3693276single nucleotide variantNM_022458.4(LMBR1):c.643C>T (p.Arg215Cys)Inborn genetic diseases [RCV004988139]uncertain significance7156762175156762175Human1name
597862733CV3745222single nucleotide variantNM_022458.4(LMBR1):c.472G>C (p.Ala158Pro)not provided [RCV005067578]uncertain significance7156763747156763747Humanname
597872306CV3836092single nucleotide variantNM_022458.4(LMBR1):c.776A>C (p.Glu259Ala)not provided [RCV005176889]uncertain significance7156734239156734239Humanname
598237905CV3981006single nucleotide variantNM_022458.4(LMBR1):c.317A>G (p.His106Arg)Inborn genetic diseases [RCV005364160]uncertain significance7156826607156826607Human1name
598200581CV4007472single nucleotide variantNM_022458.4(LMBR1):c.535A>G (p.Met179Val)Acheiropodia [RCV005398302]uncertain significance7156763684156763684Human1name
28908704CV897730single nucleotide variantNM_022458.4(LMBR1):c.923C>T (p.Ser308Leu)Polydactyly of a triphalangeal thumb [RCV001160228]|not provided [RCV005232138]uncertain significance7156728000156728000Human1name
28870631CV897732single nucleotide variantNM_022458.4(LMBR1):c.522C>A (p.Asn174Lys)Polydactyly of a triphalangeal thumb [RCV001163600]uncertain significance7156763697156763697Human1name
150471956CV1270179insertionNM_022458.4(LMBR1):c.1159-130_1159-129insCnot provided [RCV001695467]benign7156724307156724308Humanname
151845152CV1501567single nucleotide variantNM_022458.4(LMBR1):c.1390C>T (p.Leu464Phe)not provided [RCV002015808]uncertain significance7156684161156684161Humanname
156176984CV2205365single nucleotide variantNM_022458.4(LMBR1):c.1415C>T (p.Thr472Ile)Inborn genetic diseases [RCV002665069]uncertain significance7156684136156684136Human1name
156060185CV2317037single nucleotide variantNM_022458.4(LMBR1):c.1298C>T (p.Ser433Phe)Inborn genetic diseases [RCV002924999]uncertain significance7156688119156688119Human1name
156050719CV2336611single nucleotide variantNM_022458.4(LMBR1):c.1408C>T (p.Pro470Ser)Inborn genetic diseases [RCV002977773]|not provided [RCV003720703]likely benign|uncertain significance7156684143156684143Human1name
405181227CV2914128single nucleotide variantNM_022458.4(LMBR1):c.1061T>G (p.Leu354Trp)not provided [RCV003563987]uncertain significance7156725770156725770Humanname
405040480CV2929880single nucleotide variantNM_022458.4(LMBR1):c.1262G>C (p.Arg421Thr)not provided [RCV003578996]uncertain significance7156688155156688155Humanname
11650955CV302284single nucleotide variantNM_022458.4(LMBR1):c.1111T>G (p.Phe371Val)Polydactyly of a triphalangeal thumb [RCV000295917]uncertain significance7156725482156725482Human1name
11609851CV310284single nucleotide variantNM_022458.4(LMBR1):c.1399C>G (p.Leu467Val)Acheiropodia [RCV005398489]|Polydactyly of a triphalangeal thumb [RCV000373403]benign|likely benign|uncertain significance7156684152156684152Human2name
407470780CV3449179single nucleotide variantNM_022458.4(LMBR1):c.1291G>A (p.Val431Ile)Inborn genetic diseases [RCV004637193]uncertain significance7156688126156688126Human1name
597701779CV3693272single nucleotide variantNM_022458.4(LMBR1):c.1308G>T (p.Leu436Phe)Inborn genetic diseases [RCV004988136]uncertain significance7156688109156688109Human1name
598261048CV3981003single nucleotide variantNM_022458.4(LMBR1):c.1307T>C (p.Leu436Ser)Inborn genetic diseases [RCV005347752]uncertain significance7156688110156688110Human1name
151866126CV1495270microsatelliteNM_022458.4(LMBR1):c.147AGA[1] (p.Glu50del)not provided [RCV001980736]uncertain significance7156833780156833782Humanname
11639058CV265909microsatelliteNM_022458.4(LMBR1):c.180GTT[1] (p.Leu61del)not provided [RCV000313355]uncertain significance7156826739156826741Humanname
11612048CV310438microsatelliteNM_022458.3(LMBR1):c.-215_-214insCCCCGCCCCCGTriphalangeal thumb-polysyndactyly syndrome [RCV000402824]|not provided [RCV001709631]benign|likely benign7156893207156893208Humanname
150436172CV1234019insertionNM_022458.4(LMBR1):c.179+169_179+170insTTTAGCACTGGTnot provided [RCV001644146]benign7156833583156833584Humanname
401937704CV2796845indelNM_022458.4(LMBR1):c.180_188delinsTGAACTGAGA (p.Leu61fs)LMBR1-related disorder [RCV003416797]uncertain significance7156826736156826744Humanname , trait , alternate_id
401747275CV2692111single nucleotide variantNM_018113.4(LMBR1L):c.15C>A (p.Asp5Glu)not specified [RCV004301821]uncertain significance124911054149110541Humanname
156399551CV2205186single nucleotide variantNM_018113.4(LMBR1L):c.64G>C (p.Glu22Gln)not specified [RCV004077778]uncertain significance124911049249110492Humanname
329363473CV2471653single nucleotide variantNM_018113.4(LMBR1L):c.64G>A (p.Glu22Lys)not specified [RCV004286941]uncertain significance124911049249110492Humanname
151732328CV1275452single nucleotide variantNM_018113.4(LMBR1L):c.115A>G (p.Ile39Val)DSD incomplete virilization [RCV001849544]uncertain significance124910700349107003Humanname
156044439CV2215930single nucleotide variantNM_018113.4(LMBR1L):c.190G>A (p.Ala64Thr)not specified [RCV004097009]uncertain significance124910592549105925Humanname
156316586CV2250929single nucleotide variantNM_018113.4(LMBR1L):c.242T>G (p.Leu81Arg)not specified [RCV004123510]uncertain significance124910483549104835Humanname
329387180CV2428415single nucleotide variantNM_018113.4(LMBR1L):c.155C>T (p.Thr52Ile)not specified [RCV004253216]uncertain significance124910696349106963Humanname
407461059CV3449182single nucleotide variantNM_018113.4(LMBR1L):c.208T>C (p.Phe70Leu)not specified [RCV004634028]uncertain significance124910486949104869Humanname
407470791CV3449184single nucleotide variantNM_018113.4(LMBR1L):c.241C>T (p.Leu81Phe)not specified [RCV004637196]uncertain significance124910483649104836Humanname
598237907CV3981008single nucleotide variantNM_018113.4(LMBR1L):c.196G>A (p.Glu66Lys)not specified [RCV005364161]uncertain significance124910488149104881Humanname
151732315CV1275450single nucleotide variantNM_018113.4(LMBR1L):c.863G>A (p.Arg288Gln)DSD incomplete virilization [RCV001849542]likely pathogenic124910218749102187Humanname
151732322CV1275451single nucleotide variantNM_018113.4(LMBR1L):c.862C>T (p.Arg288Trp)DSD incomplete virilization [RCV001849543]likely pathogenic124910218849102188Humanname
156277655CV2209933single nucleotide variantNM_018113.4(LMBR1L):c.946A>G (p.Ile316Val)not specified [RCV004076380]uncertain significance124910153449101534Humanname
156339668CV2271449single nucleotide variantNM_018113.4(LMBR1L):c.434A>G (p.Lys145Arg)not specified [RCV004136551]uncertain significance124910444949104449Humanname
329390821CV2455509single nucleotide variantNM_018113.4(LMBR1L):c.359C>T (p.Ser120Phe)not specified [RCV004276773]uncertain significance124910452449104524Humanname
329392130CV2470407single nucleotide variantNM_018113.4(LMBR1L):c.719A>G (p.Gln240Arg)not specified [RCV004273440]uncertain significance124910251849102518Humanname
401723347CV2674920single nucleotide variantNM_018113.4(LMBR1L):c.947T>C (p.Ile316Thr)not specified [RCV004296233]uncertain significance124910153349101533Humanname
401758119CV2731699single nucleotide variantNM_018113.4(LMBR1L):c.667G>A (p.Val223Ile)not specified [RCV004331802]uncertain significance124910291649102916Humanname
401880250CV2783145single nucleotide variantNM_018113.4(LMBR1L):c.998G>A (p.Arg333Gln)not specified [RCV004363495]uncertain significance124910148249101482Humanname
405809570CV3287619single nucleotide variantNM_018113.4(LMBR1L):c.476T>C (p.Met159Thr)not specified [RCV004407581]uncertain significance124910377349103773Humanname
405809572CV3287620single nucleotide variantNM_018113.4(LMBR1L):c.757C>T (p.Arg253Cys)not specified [RCV004407582]uncertain significance124910248049102480Humanname
405809574CV3287621single nucleotide variantNM_018113.4(LMBR1L):c.925C>G (p.Leu309Val)not specified [RCV004407583]uncertain significance124910212549102125Humanname
407470787CV3449181single nucleotide variantNM_018113.4(LMBR1L):c.578A>G (p.Tyr193Cys)not specified [RCV004637195]uncertain significance124910314449103144Humanname
407461063CV3449183single nucleotide variantNM_018113.4(LMBR1L):c.389T>C (p.Phe130Ser)not specified [RCV004634029]uncertain significance124910449449104494Humanname
597623157CV3693277single nucleotide variantNM_018113.4(LMBR1L):c.971T>G (p.Leu324Arg)not specified [RCV004936190]uncertain significance124910150949101509Humanname
597623160CV3693280single nucleotide variantNM_018113.4(LMBR1L):c.560A>G (p.Tyr187Cys)not specified [RCV004936193]uncertain significance124910368949103689Humanname
597623161CV3693281single nucleotide variantNM_018113.4(LMBR1L):c.736T>A (p.Phe246Ile)not specified [RCV004936194]uncertain significance124910250149102501Humanname
598261051CV3981010single nucleotide variantNM_018113.4(LMBR1L):c.694C>T (p.Arg232Trp)not specified [RCV005347753]uncertain significance124910288949102889Humanname
598261056CV3981011single nucleotide variantNM_018113.4(LMBR1L):c.455A>G (p.Tyr152Cys)not specified [RCV005347754]uncertain significance124910379449103794Humanname
598230472CV3981012single nucleotide variantNM_018113.4(LMBR1L):c.985G>A (p.Ala329Thr)not specified [RCV005362710]uncertain significance124910149549101495Humanname
156083978CV2205553single nucleotide variantNM_018113.4(LMBR1L):c.1336C>T (p.Leu446Phe)not specified [RCV004082481]uncertain significance124909801049098010Humanname
156257845CV2219926single nucleotide variantNM_018113.4(LMBR1L):c.1103T>C (p.Val368Ala)not specified [RCV004095551]uncertain significance124910062649100626Humanname
156062427CV2323244single nucleotide variantNM_018113.4(LMBR1L):c.1156G>A (p.Asp386Asn)not specified [RCV004187633]uncertain significance124910057349100573Humanname
156066651CV2345598single nucleotide variantNM_018113.4(LMBR1L):c.1169C>T (p.Thr390Met)not specified [RCV004205551]uncertain significance124910056049100560Humanname
156099230CV2378936single nucleotide variantNM_018113.4(LMBR1L):c.1432G>A (p.Gly478Ser)not specified [RCV004233369]uncertain significance124909771049097710Humanname
401885010CV2762893single nucleotide variantNM_018113.4(LMBR1L):c.1378C>T (p.Arg460Trp)not specified [RCV004342646]uncertain significance124909796849097968Humanname
401861307CV2779614single nucleotide variantNM_018113.4(LMBR1L):c.1150T>A (p.Trp384Arg)not specified [RCV004351320]uncertain significance124910057949100579Humanname
401894985CV2792652single nucleotide variantNM_018113.4(LMBR1L):c.1414C>G (p.Leu472Val)not specified [RCV004365441]uncertain significance124909772849097728Humanname
405809563CV3287616single nucleotide variantNM_018113.4(LMBR1L):c.1209C>G (p.Ser403Arg)not specified [RCV004407578]uncertain significance124910041949100419Humanname
405809565CV3287617single nucleotide variantNM_018113.4(LMBR1L):c.1229C>T (p.Ser410Phe)not specified [RCV004407579]uncertain significance124910039949100399Humanname
405809567CV3287618single nucleotide variantNM_018113.4(LMBR1L):c.1437C>A (p.Phe479Leu)not specified [RCV004407580]uncertain significance124909770549097705Humanname
597623158CV3693278single nucleotide variantNM_018113.4(LMBR1L):c.1157A>C (p.Asp386Ala)not specified [RCV004936191]uncertain significance124910057249100572Humanname
597623159CV3693279single nucleotide variantNM_018113.4(LMBR1L):c.1160C>T (p.Thr387Ile)not specified [RCV004936192]uncertain significance124910056949100569Humanname
598230465CV3981009single nucleotide variantNM_018113.4(LMBR1L):c.1426G>A (p.Val476Ile)not specified [RCV005362709]uncertain significance124909771649097716Humanname
598261061CV3981013single nucleotide variantNM_018113.4(LMBR1L):c.1075C>T (p.Leu359Phe)not specified [RCV005347755]uncertain significance124910125749101257Humanname
598237914CV3981014single nucleotide variantNM_018113.4(LMBR1L):c.1045G>T (p.Gly349Cys)not specified [RCV005364162]uncertain significance124910128749101287Humanname