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


790 records found for search term Fancl
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8568521CV39658deletionFANCL, 3-BP DEL, 1007TATFanconi anemia complementation group L [RCV000023679]pathogenicHumanname
8568522CV39659duplicationFANCL, 4-BP DUP, 1095AATTFanconi anemia complementation group L [RCV000023680]pathogenicHumanname
126735988CV1019674single nucleotide variantNM_018062.4(FANCL):c.-3G>CFanconi anemia complementation group L [RCV001334975]|not specified [RCV001820029]uncertain significance25824131658241316Human1name
151354006CV1327558single nucleotide variantNM_018062.4(FANCL):c.-5G>Cnot specified [RCV001817502]uncertain significance25824131858241318Humanname
28891922CV885239single nucleotide variantNM_018062.4(FANCL):c.*95A>GFanconi anemia complementation group L [RCV001139584]|not provided [RCV001537367]benign|likely benign25815967058159670Human1name
28891926CV885240single nucleotide variantNM_018062.4(FANCL):c.*89C>TFanconi anemia complementation group L [RCV001139585]uncertain significance25815967658159676Human1name
151842447CV1359334single nucleotide variantNM_018062.4(FANCL):c.96+4C>AFanconi anemia [RCV002015502]uncertain significance25824121458241214Human1name
152089644CV1580695single nucleotide variantNM_018062.4(FANCL):c.97-4A>TFanconi anemia [RCV002093992]likely benign25823211658232116Human1name
156440626CV1943679single nucleotide variantNM_018062.4(FANCL):c.97-7T>CFanconi anemia [RCV003110662]|not provided [RCV003329472]likely benign|uncertain significance25823211958232119Human1name
11590276CV290403single nucleotide variantNM_018062.4(FANCL):c.*165A>GFanconi anemia complementation group L [RCV000317720]uncertain significance25815960058159600Human1name
402490181CV2906740single nucleotide variantNM_018062.4(FANCL):c.96+8C>TFanconi anemia [RCV003523606]likely benign25824121058241210Human1name
402489616CV2926177single nucleotide variantNM_018062.4(FANCL):c.96+2T>AFanconi anemia [RCV003522639]likely pathogenic25824121658241216Human1name
405039462CV3020177single nucleotide variantNM_018062.4(FANCL):c.96+2T>CFanconi anemia [RCV003635544]likely pathogenic25824121658241216Human1name
405252059CV3177581single nucleotide variantNM_018062.4(FANCL):c.96+8C>GFanconi anemia [RCV003870539]likely benign25824121058241210Human1name
597922463CV3775701single nucleotide variantNM_018062.4(FANCL):c.96+9C>GFanconi anemia [RCV005115416]likely benign25824120958241209Human1name
28884847CV885234single nucleotide variantNM_018062.4(FANCL):c.*515A>CFanconi anemia complementation group L [RCV001137353]uncertain significance25815925058159250Human1name
28884851CV885235single nucleotide variantNM_018062.4(FANCL):c.*434A>GFanconi anemia complementation group L [RCV001137354]uncertain significance25815933158159331Human1name
28891908CV885236single nucleotide variantNM_018062.4(FANCL):c.*281C>GFanconi anemia complementation group L [RCV001139581]uncertain significance25815948458159484Human1name
28891912CV885237single nucleotide variantNM_018062.4(FANCL):c.*165A>CFanconi anemia complementation group L [RCV001139582]uncertain significance25815960058159600Human1name
28891916CV885238single nucleotide variantNM_018062.4(FANCL):c.*128G>AFanconi anemia complementation group L [RCV001139583]uncertain significance25815963758159637Human1name
38482914CV939906single nucleotide variantNM_018062.4(FANCL):c.96+3A>TFanconi anemia [RCV001207450]|not provided [RCV002281168]uncertain significance25824121558241215Human1name
126759456CV988917single nucleotide variantNM_018062.4(FANCL):c.96+6C>TFanconi anemia [RCV001309024]uncertain significance25824121258241212Human1name
126763423CV1004186single nucleotide variantNM_018062.4(FANCL):c.374+3A>GFanconi anemia [RCV001319238]|Fanconi anemia complementation group L [RCV005023032]uncertain significance25822193958221939Human2name
126917980CV1041620single nucleotide variantNM_018062.4(FANCL):c.775+3A>TFanconi anemia [RCV001372389]uncertain significance25816343158163431Human1name
127248540CV1055256single nucleotide variantNM_018062.4(FANCL):c.472-1G>CFanconi anemia [RCV001377977]|Fanconi anemia complementation group L [RCV003462954]|not provided [RCV001838514]pathogenic|likely pathogenic25819866358198663Human2name
127335926CV1133905single nucleotide variantNM_018062.4(FANCL):c.155+9G>CFanconi anemia [RCV001491801]|Fanconi anemia complementation group L [RCV005023175]likely benign25823204558232045Human2name
127305573CV1154184duplicationNM_018062.4(FANCL):c.541-6dupFanconi anemia [RCV001516325]benign25816587958165880Human1name
151235999CV1319429single nucleotide variantNM_018062.4(FANCL):c.156-8A>Gnot provided [RCV001797374]uncertain significance25822988258229882Humanname
151782148CV1369791single nucleotide variantNM_018062.4(FANCL):c.155+4A>GFanconi anemia [RCV001930541]uncertain significance25823205058232050Human1name
151719121CV1373646single nucleotide variantNM_018062.4(FANCL):c.691+3A>GFanconi anemia [RCV001890807]uncertain significance25816572158165721Human1name
151851072CV1378079deletionNM_018062.4(FANCL):c.904-9delFanconi anemia [RCV002016592]likely benign|uncertain significance25816164758161647Human1name
151763776CV1403057single nucleotide variantNM_018062.4(FANCL):c.541-3C>TFanconi anemia [RCV001914288]uncertain significance25816587758165877Human1name
151867325CV1422595single nucleotide variantNM_018062.4(FANCL):c.776-6C>GFanconi anemia [RCV001884697]uncertain significance25816308058163080Human1name
151780474CV1442853single nucleotide variantNM_018062.4(FANCL):c.904-1G>AFanconi anemia [RCV002009693]likely pathogenic25816163958161639Human1name
151755645CV1498922single nucleotide variantNM_018062.4(FANCL):c.273+1G>CFanconi anemia [RCV002023826]|Fanconi anemia complementation group L [RCV002498060]likely pathogenic|conflicting interpretations of pathogenicity25822672758226727Human2name
151718812CV1505742single nucleotide variantNM_018062.4(FANCL):c.217-4C>AFanconi anemia [RCV002039755]likely benign|uncertain significance25822678858226788Human1name
152027606CV1520914single nucleotide variantNM_018062.4(FANCL):c.904-7T>GFanconi anemia [RCV002085185]likely benign25816164558161645Human1name
152091622CV1528798single nucleotide variantNM_018062.4(FANCL):c.97-11A>GFanconi anemia [RCV002094262]|Fanconi anemia complementation group L [RCV002500146]likely benign25823212358232123Human2name
152171302CV1552688single nucleotide variantNM_018062.4(FANCL):c.97-15C>TFanconi anemia [RCV002143403]likely benign25823212758232127Human1name
152139020CV1562747single nucleotide variantNM_018062.4(FANCL):c.471+9C>GFanconi anemia [RCV002100510]likely benign25820412158204121Human1name
152088389CV1562920single nucleotide variantNM_018062.4(FANCL):c.691+8C>TFanconi anemia [RCV002113733]likely benign25816571658165716Human1name
152175228CV1586256deletionNM_018062.4(FANCL):c.541-5delFanconi anemia [RCV002184790]likely benign25816587958165879Human1name
152082616CV1589610single nucleotide variantNM_018062.4(FANCL):c.776-9A>TFanconi anemia [RCV002112959]likely benign25816308358163083Human1name
152058778CV1597289single nucleotide variantNM_018062.4(FANCL):c.375-6C>TFanconi anemia [RCV002128097]likely benign25820423258204232Human1name
152172364CV1599093single nucleotide variantNM_018062.4(FANCL):c.375-5A>TFanconi anemia [RCV002143753]likely benign25820423158204231Human1name
152043405CV1624396single nucleotide variantNM_018062.4(FANCL):c.692-6T>CFanconi anemia [RCV002126380]likely benign25816352358163523Human1name
152126127CV1630382single nucleotide variantNM_018062.4(FANCL):c.822-4T>GFanconi anemia [RCV002154898]likely benign25816295158162951Human1name
152151345CV1631360single nucleotide variantNM_018062.4(FANCL):c.904-8T>GFanconi anemia [RCV002179498]likely benign25816164658161646Human1name
156419254CV1923112deletionNM_018062.4(FANCL):c.903+1delFanconi anemia [RCV002612477]|Fanconi anemia complementation group L [RCV003459763]likely pathogenic25816286558162865Human2name
156231161CV1956006single nucleotide variantNM_018062.4(FANCL):c.216+8C>GFanconi anemia [RCV002575877]likely benign25822980658229806Human1name
156375915CV1960300single nucleotide variantNM_018062.4(FANCL):c.903+6T>AFanconi anemia [RCV002582797]uncertain significance25816286058162860Human1name
155904708CV1975915single nucleotide variantNM_018062.4(FANCL):c.96+11A>GFanconi anemia [RCV002613604]likely benign25824120758241207Human1name
156345513CV1989075single nucleotide variantNM_018062.4(FANCL):c.692-4C>AFanconi anemia [RCV002631659]likely benign25816352158163521Human1name
156327781CV1990680single nucleotide variantNM_018062.4(FANCL):c.541-4A>GFanconi anemia [RCV002630752]likely benign25816587858165878Human1name
156221495CV2037710single nucleotide variantNM_018062.4(FANCL):c.156-3T>GFanconi anemia [RCV002790643]uncertain significance25822987758229877Human1name
156133604CV2081234single nucleotide variantNM_018062.4(FANCL):c.541-2A>CFanconi anemia [RCV002871725]likely pathogenic25816587658165876Human1name
156112328CV2088247duplicationNM_018062.4(FANCL):c.273+7dupFanconi anemia [RCV002889239]likely benign25822672058226721Human1name
156044318CV2094278single nucleotide variantNM_018062.4(FANCL):c.904-4G>CFanconi anemia [RCV002885935]likely benign25816164258161642Human1name
11349337CV238968single nucleotide variantNM_018062.4(FANCL):c.156-8A>CFanconi anemia [RCV001446490]likely benign25822988258229882Human1name
401940572CV2835780single nucleotide variantNM_018062.4(FANCL):c.217-2A>GFanconi anemia [RCV003523181]|Fanconi anemia complementation group L [RCV003466080]|not provided [RCV003457068]pathogenic|likely pathogenic|uncertain significance25822678658226786Human2name
402490053CV2854764single nucleotide variantNM_018062.4(FANCL):c.97-20C>GFanconi anemia [RCV003523357]likely benign25823213258232132Human1name
402490339CV2860336single nucleotide variantNM_018062.4(FANCL):c.541-5C>TFanconi anemia [RCV003524104]likely benign25816587958165879Human1name
402489426CV2873086single nucleotide variantNM_018062.4(FANCL):c.691+9A>GFanconi anemia [RCV003522214]likely benign25816571558165715Human1name
402490409CV2875295single nucleotide variantNM_018062.4(FANCL):c.471+2T>CFanconi anemia [RCV003524285]|Fanconi anemia complementation group L [RCV004574067]likely pathogenic25820412858204128Human2name
402490604CV2882574single nucleotide variantNM_018062.4(FANCL):c.216+9T>CFanconi anemia [RCV003524906]likely benign25822980558229805Human1name
402490654CV2883137single nucleotide variantNM_018062.4(FANCL):c.471+1G>AFanconi anemia [RCV003525005]likely pathogenic25820412958204129Human1name
402490687CV2893518duplicationNM_018062.4(FANCL):c.776-8dupFanconi anemia [RCV003525095]likely benign25816308158163082Human1name
402490476CV2919831single nucleotide variantNM_018062.4(FANCL):c.216+7C>GFanconi anemia [RCV003524482]likely benign25822980758229807Human1name
405041097CV2971071single nucleotide variantNM_018062.4(FANCL):c.96+12G>AFanconi anemia [RCV003636976]likely benign25824120658241206Human1name
405041059CV2971923single nucleotide variantNM_018062.4(FANCL):c.155+8G>AFanconi anemia [RCV003637028]likely benign25823204658232046Human1name
405040478CV3007973single nucleotide variantNM_018062.4(FANCL):c.692-4C>GFanconi anemia [RCV003637857]likely benign25816352158163521Human1name
405039599CV3033934single nucleotide variantNM_018062.4(FANCL):c.96+14G>AFanconi anemia [RCV003635747]likely benign25824120458241204Human1name
405039586CV3036758single nucleotide variantNM_018062.4(FANCL):c.775+2T>CFanconi anemia [RCV003635738]likely pathogenic25816343258163432Human1name
405039502CV3040142single nucleotide variantNM_018062.4(FANCL):c.821+1G>AFanconi anemia [RCV003635604]likely pathogenic25816302858163028Human1name
405039613CV3043123single nucleotide variantNM_018062.4(FANCL):c.97-14A>GFanconi anemia [RCV003635774]likely benign25823212658232126Human1name
405039626CV3046401single nucleotide variantNM_018062.4(FANCL):c.97-13A>TFanconi anemia [RCV003635799]likely benign25823212558232125Human1name
405040023CV3056844single nucleotide variantNM_018062.4(FANCL):c.96+12G>CFanconi anemia [RCV003636570]likely benign25824120658241206Human1name
405040156CV3058767single nucleotide variantNM_018062.4(FANCL):c.472-6T>AFanconi anemia [RCV003636704]likely benign|uncertain significance25819866858198668Human1name
405040313CV3070430single nucleotide variantNM_018062.4(FANCL):c.903+1G>TFanconi anemia [RCV003636848]likely pathogenic25816286558162865Human1name
405040382CV3075032single nucleotide variantNM_018062.4(FANCL):c.775+6A>GFanconi anemia [RCV003637585]uncertain significance25816342858163428Human1name
405208026CV3117110single nucleotide variantNM_018062.4(FANCL):c.472-5A>GFanconi anemia [RCV003822897]likely benign25819866758198667Human1name
405095620CV3135010single nucleotide variantNM_018062.4(FANCL):c.273+7A>TFanconi anemia [RCV003835162]likely benign25822672158226721Human1name
405146119CV3141772single nucleotide variantNM_018062.4(FANCL):c.97-14A>CFanconi anemia [RCV003839694]likely benign25823212658232126Human1name
405205438CV3165674single nucleotide variantNM_018062.4(FANCL):c.96+15G>AFanconi anemia [RCV003861340]likely benign25824120358241203Human1name
405239656CV3165981single nucleotide variantNM_018062.4(FANCL):c.96+18G>AFanconi anemia [RCV003866993]likely benign25824120058241200Human1name
404994068CV3176516single nucleotide variantNM_018062.4(FANCL):c.374+7C>TFanconi anemia [RCV003881948]likely benign25822193558221935Human1name
597742905CV3713562single nucleotide variantNM_018062.4(FANCL):c.775+5G>TFanconi anemia complementation group L [RCV005038993]uncertain significance25816342958163429Human1name
597649342CV3713574single nucleotide variantNM_018062.4(FANCL):c.374+1G>AFanconi anemia complementation group L [RCV005026663]likely pathogenic25822194158221941Human1name
597689429CV3713579single nucleotide variantNM_018062.4(FANCL):c.156-2A>TFanconi anemia complementation group L [RCV005032366]likely pathogenic25822987658229876Human1name
597832337CV3751337single nucleotide variantNM_018062.4(FANCL):c.274-7T>GFanconi anemia [RCV005084883]likely benign25822204958222049Human1name
597833942CV3760493single nucleotide variantNM_018062.4(FANCL):c.904-2A>GFanconi anemia [RCV005085236]likely pathogenic25816164058161640Human1name
598125278CV3881526single nucleotide variantNM_018062.4(FANCL):c.274-2A>Gnot provided [RCV005232432]likely pathogenic25822204458222044Humanname
12885118CV393064single nucleotide variantNM_018062.4(FANCL):c.155+7T>CFanconi anemia [RCV001413892]likely benign25823204758232047Human1name
12885771CV393070single nucleotide variantNM_018062.4(FANCL):c.273+7A>CFanconi anemia [RCV000466009]|Fanconi anemia complementation group L [RCV001137462]likely benign|uncertain significance25822672158226721Human2name
13494422CV451721single nucleotide variantNM_018062.4(FANCL):c.96+10C>TFanconi anemia [RCV000558896]likely benign25824120858241208Human1name
13813744CV558247single nucleotide variantNM_018062.4(FANCL):c.692-2A>GFanconi anemia [RCV000690372]likely pathogenic25816351958163519Human1name
13806124CV558622single nucleotide variantNM_018062.4(FANCL):c.273+1G>AFanconi anemia [RCV000686056]|Fanconi anemia complementation group L [RCV003459665]likely pathogenic25822672758226727Human2name
13815869CV560885single nucleotide variantNM_018062.4(FANCL):c.216+1G>TFanconi anemia [RCV000705984]likely pathogenic25822981358229813Human1name
15148836CV743880single nucleotide variantNM_018062.4(FANCL):c.776-8A>TFanconi anemia [RCV000900805]likely benign25816308258163082Human1name
21067057CV790286single nucleotide variantNM_018062.4(FANCL):c.775+3A>GFanconi anemia [RCV001360229]|Fanconi anemia complementation group A [RCV000986763]uncertain significance25816343158163431Human2name
42722782CV985189single nucleotide variantNM_018062.4(FANCL):c.904-4G>TFanconi anemia [RCV003523091]|Fanconi anemia complementation group L [RCV001292702]likely benign|uncertain significance25816164258161642Human2name
126763403CV1004185single nucleotide variantNM_018062.4(FANCL):c.775+10C>GFanconi anemia [RCV001319230]uncertain significance25816342458163424Human1name
127328602CV1112991single nucleotide variantNM_018062.4(FANCL):c.903+10A>GFanconi anemia [RCV001469633]|Fanconi anemia complementation group L [RCV002495695]likely benign25816285658162856Human2name
127308888CV1154182duplicationNM_018062.4(FANCL):c.822-15dupFanconi anemia [RCV001517666]|not specified [RCV001844297]benign25816296158162962Human1name
127316038CV1154183deletionNM_018062.4(FANCL):c.776-10delFanconi anemia [RCV001520266]benign|likely benign25816308458163084Human1name
150425482CV1183215single nucleotide variantNM_018062.4(FANCL):c.903+32C>Gnot provided [RCV001558047]likely benign25816283458162834Humanname
150469437CV1207571single nucleotide variantNM_018062.4(FANCL):c.97-256C>Gnot provided [RCV001588260]likely benign25823236858232368Humanname
150513498CV1211951single nucleotide variantNM_018062.4(FANCL):c.775+22C>Tnot provided [RCV001598472]benign25816341258163412Humanname
150501749CV1224274single nucleotide variantNM_018062.4(FANCL):c.775+31A>Gnot provided [RCV001620915]benign25816340358163403Humanname
150492855CV1225552single nucleotide variantNM_018062.4(FANCL):c.375-85A>Gnot provided [RCV001619068]benign25820431158204311Humanname
150517002CV1227441deletionNM_018062.4(FANCL):c.374+35delnot provided [RCV001639542]benign25822190758221907Humanname
150430248CV1232081duplicationNM_018062.4(FANCL):c.273+19dupFanconi anemia complementation group L [RCV002501984]|not provided [RCV001641343]benign25822670858226709Human1name
150481282CV1239752single nucleotide variantNM_018062.4(FANCL):c.775+55G>Cnot provided [RCV001652915]benign25816337958163379Humanname
150446581CV1250686single nucleotide variantNM_018062.4(FANCL):c.471+97A>Gnot provided [RCV001667191]benign25820403358204033Humanname
150467791CV1255964single nucleotide variantNM_018062.4(FANCL):c.691+70A>Gnot provided [RCV001670598]benign25816565458165654Humanname
150441548CV1265801single nucleotide variantNM_018062.4(FANCL):c.692-27A>Cnot provided [RCV001690526]benign25816354458163544Humanname
151832571CV1396175single nucleotide variantNM_018062.4(FANCL):c.471+16A>GFanconi anemia [RCV001901954]likely benign|uncertain significance25820411458204114Human1name
152065255CV1525942single nucleotide variantNM_018062.4(FANCL):c.822-13C>TFanconi anemia [RCV002128883]likely benign25816296058162960Human1name
152050541CV1527784single nucleotide variantNM_018062.4(FANCL):c.472-14T>CFanconi anemia [RCV002089098]likely benign25819867658198676Human1name
152062225CV1532987single nucleotide variantNM_018062.4(FANCL):c.471+12G>AFanconi anemia [RCV002090390]|Fanconi anemia complementation group L [RCV002486805]likely benign25820411858204118Human2name
152105313CV1536702single nucleotide variantNM_018062.4(FANCL):c.156-15T>CFanconi anemia [RCV002173634]likely benign25822988958229889Human1name
152026611CV1540054single nucleotide variantNM_018062.4(FANCL):c.692-17A>GFanconi anemia [RCV002104613]likely benign25816353458163534Human1name
152088714CV1541410single nucleotide variantNM_018062.4(FANCL):c.472-15A>GFanconi anemia [RCV002171543]|Fanconi anemia complementation group L [RCV002486982]likely benign25819867758198677Human2name
152032236CV1546232deletionNM_018062.4(FANCL):c.216+13delFanconi anemia [RCV002124708]benign25822980158229801Human1name
152066033CV1556900single nucleotide variantNM_018062.4(FANCL):c.472-15A>TFanconi anemia [RCV002191182]likely benign25819867758198677Human1name
152079549CV1557909single nucleotide variantNM_018062.4(FANCL):c.541-14C>AFanconi anemia [RCV002170358]likely benign25816588858165888Human1name
152130155CV1584433single nucleotide variantNM_018062.4(FANCL):c.822-15T>CFanconi anemia [RCV002082755]|not provided [RCV004711741]likely benign25816296258162962Human1name
152037825CV1596510single nucleotide variantNM_018062.4(FANCL):c.155+18T>AFanconi anemia [RCV002125634]likely benign25823203658232036Human1name
152160832CV1601806single nucleotide variantNM_018062.4(FANCL):c.541-11T>AFanconi anemia [RCV002180904]likely benign25816588558165885Human1name
152082190CV1607962single nucleotide variantNM_018062.4(FANCL):c.471+11C>TFanconi anemia [RCV002193166]likely benign25820411958204119Human1name
152082594CV1608077single nucleotide variantNM_018062.4(FANCL):c.375-13C>TFanconi anemia [RCV002193217]benign25820423958204239Human1name
152094316CV1609315single nucleotide variantNM_018062.4(FANCL):c.541-15T>CFanconi anemia [RCV002172245]likely benign25816588958165889Human1name
152097569CV1611560single nucleotide variantNM_018062.4(FANCL):c.374+13T>CFanconi anemia [RCV002172669]|Fanconi anemia complementation group L [RCV005232798]|not provided [RCV005256842]benign|likely benign25822192958221929Human2name
152096280CV1627881single nucleotide variantNM_018062.4(FANCL):c.540+13C>TFanconi anemia [RCV002194961]likely benign25819858158198581Human1name
152157635CV1630597single nucleotide variantNM_018062.4(FANCL):c.375-15T>CFanconi anemia [RCV002122646]|Fanconi anemia complementation group L [RCV002500012]benign|likely benign25820424158204241Human2name
152110417CV1638194single nucleotide variantNM_018062.4(FANCL):c.692-15C>GFanconi anemia [RCV002196694]likely benign25816353258163532Human1name
152073129CV1650636single nucleotide variantNM_018062.4(FANCL):c.775+13A>CFanconi anemia [RCV002169552]likely benign25816342158163421Human1name
152172883CV1652765single nucleotide variantNM_018062.4(FANCL):c.375-14C>GFanconi anemia [RCV002143925]likely benign25820424058204240Human1name
152068840CV1662429single nucleotide variantNM_018062.4(FANCL):c.1092+8A>GFanconi anemia [RCV002111171]likely benign25816010058160100Human1name
155974574CV1885895single nucleotide variantNM_018062.4(FANCL):c.775+11T>GFanconi anemia [RCV003075347]likely benign25816342358163423Human1name
156180737CV1888394single nucleotide variantNM_018062.4(FANCL):c.541-18C>GFanconi anemia [RCV003083549]likely benign25816589258165892Human1name
156223517CV1934397single nucleotide variantNM_018062.4(FANCL):c.156-14C>TFanconi anemia [RCV002644506]likely benign25822988858229888Human1name
155901161CV2010158single nucleotide variantNM_018062.4(FANCL):c.274-19G>AFanconi anemia [RCV002726187]likely benign25822206158222061Human1name
155910033CV2017591single nucleotide variantNM_018062.4(FANCL):c.540+18A>GFanconi anemia [RCV002681645]likely benign25819857658198576Human1name
156372156CV2028165single nucleotide variantNM_018062.4(FANCL):c.1021-7T>CFanconi anemia [RCV002721607]likely benign25816018658160186Human1name
156091069CV2080275single nucleotide variantNM_018062.4(FANCL):c.903+12C>TFanconi anemia [RCV002847718]likely benign25816285458162854Human1name
156141287CV2090664single nucleotide variantNM_018062.4(FANCL):c.904-20T>AFanconi anemia [RCV002890315]likely benign25816165858161658Human1name
155981293CV2098009single nucleotide variantNM_018062.4(FANCL):c.375-17T>GFanconi anemia [RCV002907718]likely benign25820424358204243Human1name
156361156CV2119480single nucleotide variantNM_018062.4(FANCL):c.903+17T>AFanconi anemia [RCV002966990]likely benign25816284958162849Human1name
156083708CV2138368single nucleotide variantNM_018062.4(FANCL):c.472-11T>CFanconi anemia [RCV002979349]likely benign|uncertain significance25819867358198673Human1name
156198554CV2169571single nucleotide variantNM_018062.4(FANCL):c.541-10T>GFanconi anemia [RCV003041889]likely benign25816588458165884Human1name
11548229CV250751single nucleotide variantNM_018062.4(FANCL):c.375-49C>GFanconi anemia complementation group L [RCV003316380]|not provided [RCV001594900]|not specified [RCV000248809]benign25820427558204275Human1name
11545527CV250752single nucleotide variantNM_018062.4(FANCL):c.217-11T>CFanconi anemia complementation group L [RCV000308555]|not provided [RCV001651152]|not specified [RCV000245258]benign|likely benign25822679558226795Human1name
11551759CV250753single nucleotide variantNM_001114636.1(FANCL):c.-39A>GFanconi anemia complementation group L [RCV000401037]|not provided [RCV001582816]|not specified [RCV000253455]benign|likely benign|uncertain significance25824135258241352Human1name
401941236CV2835782single nucleotide variantNM_018062.4(FANCL):c.1092+1G>CFanconi anemia complementation group L [RCV003461552]likely pathogenic25816010758160107Human1name
402490059CV2864773single nucleotide variantNM_018062.4(FANCL):c.375-11C>TFanconi anemia [RCV003523363]likely benign25820423758204237Human1name
11588410CV286883single nucleotide variantNM_001114636.1(FANCL):c.-39A>CFANCL-related disorder [RCV003932338]|Fanconi anemia complementation group L [RCV000302641]|not provided [RCV004694578]likely benign|uncertain significance25824135258241352Human1name , trait , alternate_id
402490429CV2875655single nucleotide variantNM_018062.4(FANCL):c.216+14A>GFanconi anemia [RCV003524341]likely benign25822980058229800Human1name
11594473CV287624single nucleotide variantNM_001114636.1(FANCL):c.-40C>AFanconi anemia complementation group L [RCV000359574]uncertain significance25824135358241353Human1name
11583519CV287626single nucleotide variantNM_001114636.1(FANCL):c.-44C>TFANCL-related disorder [RCV003950164]|Fanconi anemia complementation group L [RCV000267177]likely benign|uncertain significance25824135758241357Human1name , trait , alternate_id
402490370CV2877424single nucleotide variantNM_018062.4(FANCL):c.156-11T>AFanconi anemia [RCV003524121]likely benign25822988558229885Human1name
402489550CV2881530single nucleotide variantNM_018062.4(FANCL):c.471+13T>CFanconi anemia [RCV003522479]likely benign25820411758204117Human1name
402490643CV2883100single nucleotide variantNM_018062.4(FANCL):c.156-12T>CFanconi anemia [RCV003524998]likely benign25822988658229886Human1name
402490758CV2893994single nucleotide variantNM_018062.4(FANCL):c.903+14G>TFanconi anemia [RCV003525184]likely benign25816285258162852Human1name
402490164CV2900368single nucleotide variantNM_018062.4(FANCL):c.904-19A>GFanconi anemia [RCV003523572]likely benign25816165758161657Human1name
11634958CV290414duplicationNM_018062.4(FANCL):c.776-10dupFanconi anemia [RCV000295593]|not provided [RCV001636943]|not specified [RCV000508309]benign|conflicting interpretations of pathogenicity|uncertain significance25816308358163084Human1name
11593239CV290416single nucleotide variantNM_001114636.1(FANCL):c.-13C>TFanconi anemia complementation group L [RCV000347013]uncertain significance25824132658241326Human1name
402490445CV2919362single nucleotide variantNM_018062.4(FANCL):c.374+13T>GFanconi anemia [RCV003524432]likely benign25822192958221929Human1name
405039814CV2938419single nucleotide variantNM_018062.4(FANCL):c.375-14C>TFanconi anemia [RCV003636158]likely benign25820424058204240Human1name
405041048CV2969504single nucleotide variantNM_018062.4(FANCL):c.156-11T>CFanconi anemia [RCV003637102]likely benign25822988558229885Human1name
405040957CV2987141single nucleotide variantNM_018062.4(FANCL):c.1021-2A>GFanconi anemia [RCV003637348]|Fanconi anemia complementation group L [RCV004574283]likely pathogenic25816018158160181Human2name
405040972CV2988760single nucleotide variantNM_018062.4(FANCL):c.374+20T>AFanconi anemia [RCV003637248]likely benign25822192258221922Human1name
405040442CV2999509single nucleotide variantNM_018062.4(FANCL):c.375-20T>AFanconi anemia [RCV003637734]likely benign25820424658204246Human1name
405040539CV3009415single nucleotide variantNM_018062.4(FANCL):c.274-14C>GFanconi anemia [RCV003637970]likely benign25822205658222056Human1name
405040612CV3017578single nucleotide variantNM_018062.4(FANCL):c.692-11T>CFanconi anemia [RCV003638105]likely benign25816352858163528Human1name
405039414CV3017995single nucleotide variantNM_018062.4(FANCL):c.903+14G>AFanconi anemia [RCV003635417]|Fanconi anemia complementation group L [RCV005030195]likely benign|uncertain significance25816285258162852Human2name
405039487CV3024313single nucleotide variantNM_018062.4(FANCL):c.540+16G>TFanconi anemia [RCV003635580]|Fanconi anemia complementation group L [RCV005030201]likely pathogenic|likely benign25819857858198578Human2name
405039474CV3027392single nucleotide variantNM_018062.4(FANCL):c.541-14C>TFanconi anemia [RCV003635561]likely benign25816588858165888Human1name
405039547CV3035224single nucleotide variantNM_018062.4(FANCL):c.156-16C>TFanconi anemia [RCV003635654]likely benign25822989058229890Human1name
405039561CV3035329single nucleotide variantNM_018062.4(FANCL):c.822-13C>GFanconi anemia [RCV003635660]likely benign25816296058162960Human1name
405039971CV3045336single nucleotide variantNM_018062.4(FANCL):c.375-19A>CFanconi anemia [RCV003636477]likely benign25820424558204245Human1name
405039946CV3051607single nucleotide variantNM_018062.4(FANCL):c.775+10C>TFanconi anemia [RCV003636430]likely benign25816342458163424Human1name
405039684CV3054523single nucleotide variantNM_018062.4(FANCL):c.216+17A>GFanconi anemia [RCV003635900]likely benign25822979758229797Human1name
405040008CV3060197single nucleotide variantNM_018062.4(FANCL):c.692-15C>AFanconi anemia [RCV003636569]likely benign25816353258163532Human1name
405040239CV3062801single nucleotide variantNM_018062.4(FANCL):c.375-16C>TFanconi anemia [RCV003636792]likely benign25820424258204242Human1name
405040171CV3069248single nucleotide variantNM_018062.4(FANCL):c.156-13A>TFanconi anemia [RCV003636718]likely benign25822988758229887Human1name
405040214CV3069591single nucleotide variantNM_018062.4(FANCL):c.541-15T>GFanconi anemia [RCV003636752]likely benign25816588958165889Human1name
405040862CV3071319single nucleotide variantNM_018062.4(FANCL):c.472-18G>AFanconi anemia [RCV003637444]likely benign25819868058198680Human1name
405040366CV3072139single nucleotide variantNM_018062.4(FANCL):c.822-12C>TFanconi anemia [RCV003637561]likely benign25816295958162959Human1name
405040394CV3072351single nucleotide variantNM_018062.4(FANCL):c.155+19A>TFanconi anemia [RCV003637590]likely benign25823203558232035Human1name
405040918CV3073573duplicationNM_018062.4(FANCL):c.1020+8dupFanconi anemia [RCV003637385]benign25816151358161514Human1name
405244924CV3161544single nucleotide variantNM_018062.4(FANCL):c.692-18A>CFanconi anemia [RCV003868256]likely benign25816353558163535Human1name
402467069CV3177744single nucleotide variantNM_018062.4(FANCL):c.904-14T>CFanconi anemia [RCV003873182]likely benign25816165258161652Human1name
404979991CV3183180single nucleotide variantNM_018062.4(FANCL):c.156-13A>CFanconi anemia [RCV003880203]likely benign25822988758229887Human1name
405870035CV3400594single nucleotide variantNM_018062.4(FANCL):c.1092+1G>TFanconi anemia complementation group L [RCV004576597]likely pathogenic25816010758160107Human1name
597649206CV3713553single nucleotide variantNM_018062.4(FANCL):c.1021-2A>TFanconi anemia complementation group L [RCV005026647]likely pathogenic25816018158160181Human1name
597890004CV3762816single nucleotide variantNM_018062.4(FANCL):c.274-14C>TFanconi anemia [RCV005110589]likely benign25822205658222056Human1name
597872666CV3769753single nucleotide variantNM_018062.4(FANCL):c.374+19A>GFanconi anemia [RCV005108011]likely benign25822192358221923Human1name
597938912CV3775202single nucleotide variantNM_018062.4(FANCL):c.903+19T>CFanconi anemia [RCV005118028]likely benign25816284758162847Human1name
597955821CV3796325single nucleotide variantNM_018062.4(FANCL):c.822-19T>GFanconi anemia [RCV005137142]likely benign25816296658162966Human1name
597864111CV3823103single nucleotide variantNM_018062.4(FANCL):c.374+17A>GFanconi anemia [RCV005175453]uncertain significance25822192558221925Human1name
597864451CV3861059single nucleotide variantNM_018062.4(FANCL):c.155+11G>CFanconi anemia [RCV005196407]likely benign25823204358232043Human1name
12887365CV393226single nucleotide variantNM_018062.4(FANCL):c.1021-6T>CFanconi anemia [RCV000468930]|Fanconi anemia complementation group A [RCV000986761]|Fanconi anemia complementation group L [RCV002496824]|not specified [RCV001821348]likely benign25816018558160185Human3name
28892193CV885249single nucleotide variantNM_001114636.1(FANCL):c.-26T>AFanconi anemia complementation group L [RCV001139682]uncertain significance25824133958241339Human1name
28892196CV885250single nucleotide variantNM_001114636.1(FANCL):c.-34T>CFanconi anemia complementation group L [RCV001139683]uncertain significance25824134758241347Human1name
28892200CV885251single nucleotide variantNM_001114636.1(FANCL):c.-35C>TFanconi anemia complementation group L [RCV001139684]uncertain significance25824134858241348Human1name
150424590CV1183216single nucleotide variantNM_018062.4(FANCL):c.471+135A>Gnot provided [RCV001556864]likely benign25820399558203995Humanname
150426896CV1186468single nucleotide variantNM_018062.4(FANCL):c.274-258A>Gnot provided [RCV001560190]likely benign25822230058222300Humanname
150408818CV1189922single nucleotide variantNM_018062.4(FANCL):c.156-218A>Cnot provided [RCV001565454]likely benign25823009258230092Humanname
150447920CV1201956single nucleotide variantNM_018062.4(FANCL):c.217-141G>Anot provided [RCV001584825]likely benign25822692558226925Humanname
150476542CV1203053single nucleotide variantNM_018062.4(FANCL):c.904-234A>Tnot provided [RCV001589647]likely benign25816187258161872Humanname
150481285CV1209763duplicationNM_018062.4(FANCL):c.274-285dupnot provided [RCV001590460]likely benign25822232658222327Humanname
150510454CV1211695single nucleotide variantNM_018062.4(FANCL):c.904-291A>Gnot provided [RCV001597590]benign25816192958161929Humanname
150509626CV1229943single nucleotide variantNM_018062.4(FANCL):c.471+136A>Gnot provided [RCV001636523]benign25820399458203994Humanname
150477393CV1240023single nucleotide variantNM_018062.4(FANCL):c.216+194T>Cnot provided [RCV001652201]benign25822962058229620Humanname
150506293CV1242179single nucleotide variantNM_018062.4(FANCL):c.273+278A>Gnot provided [RCV001658532]benign25822645058226450Humanname
150484466CV1250029single nucleotide variantNM_018062.4(FANCL):c.274-122G>Anot provided [RCV001673642]benign25822216458222164Humanname
150447752CV1253449single nucleotide variantNM_018062.4(FANCL):c.1092+58T>Cnot provided [RCV001667377]benign25816005058160050Humanname
150469144CV1259608single nucleotide variantNM_018062.4(FANCL):c.273+243G>Cnot provided [RCV001683909]benign25822648558226485Humanname
150487956CV1262816single nucleotide variantNM_018062.4(FANCL):c.1093-65G>Anot provided [RCV001687214]benign25815986558159865Humanname
150496116CV1272802single nucleotide variantNM_018062.4(FANCL):c.273+268C>Tnot provided [RCV001688725]benign25822646058226460Humanname
150482808CV1280066single nucleotide variantNM_018062.4(FANCL):c.903+189G>Tnot provided [RCV001715082]benign25816267758162677Humanname
150441743CV1287616duplicationNM_018062.4(FANCL):c.274-275dupnot provided [RCV001725336]benign25822231658222317Humanname
152064053CV1535725single nucleotide variantNM_018062.4(FANCL):c.1020+15T>CFanconi anemia [RCV002168379]likely benign25816150758161507Human1name
152167959CV1577584single nucleotide variantNM_018062.4(FANCL):c.1092+18C>AFanconi anemia [RCV002204845]likely benign25816009058160090Human1name
152128939CV1639004single nucleotide variantNM_018062.4(FANCL):c.1093-15G>TFanconi anemia [RCV002155261]likely benign25815981558159815Human1name
156004538CV1869727single nucleotide variantNM_018062.4(FANCL):c.1093-13T>AFanconi anemia [RCV003076753]uncertain significance25815981358159813Human1name
156448462CV1950743single nucleotide variantNM_018062.4(FANCL):c.1020+18T>CFanconi anemia [RCV003120024]likely benign25816150458161504Human1name
156141950CV2090696single nucleotide variantNM_018062.4(FANCL):c.1020+17T>CFanconi anemia [RCV002890340]likely benign25816150558161505Human1name
156136085CV2105735single nucleotide variantNM_018062.4(FANCL):c.1093-15G>AFanconi anemia [RCV002914730]likely benign25815981558159815Human1name
156016858CV2114509single nucleotide variantNM_018062.4(FANCL):c.1020+14A>GFanconi anemia [RCV002909412]likely benign25816150858161508Human1name
155949641CV2123402single nucleotide variantNM_018062.4(FANCL):c.1093-11T>AFanconi anemia [RCV002971788]|Fanconi anemia complementation group L [RCV005028079]likely benign|uncertain significance25815981158159811Human2name
402490257CV2858824single nucleotide variantNM_018062.4(FANCL):c.1093-17A>TFanconi anemia [RCV003523928]likely benign25815981758159817Human1name
402490316CV2866493deletionNM_018062.4(FANCL):c.1020+14delFanconi anemia [RCV003524057]benign25816150858161508Human1name
402489473CV2880472single nucleotide variantNM_018062.4(FANCL):c.1092+15A>GFanconi anemia [RCV003522259]likely benign25816009358160093Human1name
402489485CV2880490single nucleotide variantNM_018062.4(FANCL):c.1092+14T>GFanconi anemia [RCV003522261]likely benign25816009458160094Human1name
402489529CV2891078single nucleotide variantNM_018062.4(FANCL):c.1093-13T>CFanconi anemia [RCV003522351]likely benign25815981358159813Human1name
402490621CV2892996single nucleotide variantNM_018062.4(FANCL):c.1021-18A>CFanconi anemia [RCV003524927]likely benign25816019758160197Human1name
405039826CV2946008single nucleotide variantNM_018062.4(FANCL):c.1093-12C>GFanconi anemia [RCV003636202]likely benign25815981258159812Human1name
405041072CV2964748single nucleotide variantNM_018062.4(FANCL):c.1093-18T>GFanconi anemia [RCV003637010]likely benign25815981858159818Human1name
405040930CV2990468single nucleotide variantNM_018062.4(FANCL):c.1092+17T>CFanconi anemia [RCV003637371]likely benign25816009158160091Human1name
405040468CV2994125single nucleotide variantNM_018062.4(FANCL):c.1093-10C>AFanconi anemia [RCV003637841]likely benign25815981058159810Human1name
405039516CV3037856single nucleotide variantNM_018062.4(FANCL):c.1021-16C>GFanconi anemia [RCV003635614]likely benign25816019558160195Human1name
405040251CV3078238single nucleotide variantNM_018062.4(FANCL):c.1020+20T>GFanconi anemia [RCV003636806]likely benign25816150258161502Human1name
405040266CV3078408single nucleotide variantNM_018062.4(FANCL):c.1092+18C>GFanconi anemia [RCV003636810]likely benign25816009058160090Human1name
597967958CV3752144single nucleotide variantNM_018062.4(FANCL):c.1092+16A>GFanconi anemia [RCV005083338]likely benign25816009258160092Human1name
597946575CV3817729single nucleotide variantNM_018062.4(FANCL):c.1021-16C>TFanconi anemia [RCV005160195]likely benign25816019558160195Human1name
597850119CV3824543single nucleotide variantNM_018062.4(FANCL):c.1021-11A>CFanconi anemia [RCV005173582]likely benign25816019058160190Human1name
150425491CV1183214single nucleotide variantNM_018062.4(FANCL):c.1020+338C>Tnot provided [RCV001558060]likely benign25816118458161184Humanname
150487463CV1262744duplicationNM_018062.4(FANCL):c.375-2279dupnot provided [RCV001687142]benign25820650458206505Humanname
150474847CV1278943single nucleotide variantNM_018062.4(FANCL):c.375-2272C>Anot provided [RCV001713756]benign25820649858206498Humanname
155641717CV1709916single nucleotide variantNM_018062.4(FANCL):c.540+4347G>Anot provided [RCV002293016]likely benign25819424758194247Humanname
402490742CV2893948single nucleotide variantNM_018062.4(FANCL):c.375-2033C>TFanconi anemia [RCV003525182]likely benign25820625958206259Human1name
617152262CV4020658single nucleotide variantNM_018062.4(FANCL):c.540+9614G>Tnot provided [RCV005427915]benign25818898058188980Humanname
617149621CV4021344single nucleotide variantNM_018062.4(FANCL):c.540+9895A>Gnot provided [RCV005425313]likely benign25818869958188699Humanname
617149342CV4021455single nucleotide variantNM_018062.4(FANCL):c.374+8284G>Cnot provided [RCV005425424]likely benign25821365858213658Humanname
617151066CV4021890single nucleotide variantNM_018062.4(FANCL):c.540+9600T>Gnot provided [RCV005426851]likely benign25818899458188994Humanname
13436758CV433551single nucleotide variantNM_018062.4(FANCL):c.375-2014T>Cnot provided [RCV001712569]|not specified [RCV000507709]benign25820624058206240Humanname
34889442CV918141single nucleotide variantNM_018062.4(FANCL):c.375-2033C>GFanconi anemia [RCV001863081]|Fanconi anemia complementation group L [RCV001195064]pathogenic|likely pathogenic|uncertain significance25820625958206259Human2name
329847042CV2524124duplicationNM_018062.4(FANCL):c.*102_*105dupnot specified [RCV003226830]uncertain significance25815965958159660Humanname
11590842CV286872deletionNM_018062.4(FANCL):c.*447_*450delFanconi anemia [RCV000322806]uncertain significance25815931558159318Human1name
127275309CV1091498single nucleotide variantNM_018062.4(FANCL):c.6G>A (p.Ala2=)Fanconi anemia [RCV001432279]likely benign25824130858241308Human1name
152130232CV1519603inversionNM_018062.4(FANCL):c.96+14_96+15invFanconi anemia [RCV002155430]likely benign25824120358241204Humanname
155945567CV2072595deletionNM_018062.4(FANCL):c.903+1_903+2delFanconi anemia [RCV002862042]|Fanconi anemia complementation group L [RCV005027986]likely pathogenic25816286458162865Human2name
156280837CV2133796deletionNM_018062.4(FANCL):c.97-15_97-11delFanconi anemia [RCV003009594]likely benign25823212358232127Human1name
401941248CV2835799microsatelliteNM_018062.4(FANCL):c.691+2_691+5delFanconi anemia complementation group L [RCV003461564]likely pathogenic25816571958165722Humanname
13816922CV561856deletionNM_018062.4(FANCL):c.904-9_904-7delFanconi anemia [RCV000692656]uncertain significance25816164558161647Human1name
127311088CV1112993microsatelliteNM_018062.4(FANCL):c.274-11_274-9delFanconi anemia [RCV001456767]likely benign25822205158222053Humanname
152140618CV1660891single nucleotide variantNM_018062.4(FANCL):c.18G>C (p.Ala6=)Fanconi anemia [RCV002120317]likely benign25824129658241296Human1name
156376603CV2000348single nucleotide variantNM_018062.4(FANCL):c.24G>A (p.Leu8=)Fanconi anemia [RCV002653344]likely benign25824129058241290Human1name
401937575CV2815817single nucleotide variantNM_018062.4(FANCL):c.22C>T (p.Leu8=)Fanconi anemia [RCV005100052]|not provided [RCV003415586]likely benign25824129258241292Human1name
405053854CV2884834single nucleotide variantNM_018062.4(FANCL):c.12G>C (p.Thr4=)Fanconi anemia [RCV003522405]likely benign25824130258241302Human1name
405140913CV3053528single nucleotide variantNM_018062.4(FANCL):c.24G>T (p.Leu8=)Fanconi anemia [RCV003635826]likely benign25824129058241290Human1name
405183129CV3124035single nucleotide variantNM_018062.4(FANCL):c.27G>A (p.Leu9=)Fanconi anemia [RCV003820231]likely benign25824128758241287Human1name
597921282CV3839424single nucleotide variantNM_018062.4(FANCL):c.24G>C (p.Leu8=)Fanconi anemia [RCV005184356]likely benign25824129058241290Human1name
127231252CV1069764microsatelliteNM_018062.4(FANCL):c.540+10_540+24delFanconi anemia [RCV001412975]likely benign25819857058198584Humanname
150441660CV1246771deletionNM_018062.4(FANCL):c.691+59_691+61delnot provided [RCV001666425]benign25816566358165665Humanname
151352950CV1326364single nucleotide variantNM_018062.4(FANCL):c.1A>T (p.Met1Leu)Fanconi anemia [RCV003635974]|not provided [RCV001815885]pathogenic|likely pathogenic25824131358241313Human1name
151763092CV1447462deletionNM_018062.4(FANCL):c.374+18_374+29delFanconi anemia [RCV001895562]|not specified [RCV002300615]likely benign|uncertain significance25822191358221924Human1name
151731436CV1489801deletionNM_018062.4(FANCL):c.776-13_776-10delFanconi anemia [RCV001910910]uncertain significance25816308458163087Human1name
152110590CV1537015single nucleotide variantNM_018062.4(FANCL):c.36C>T (p.Cys12=)Fanconi anemia [RCV002215430]|not provided [RCV003456515]likely benign25824127858241278Human1name
152114348CV1573645duplicationNM_018062.4(FANCL):c.776-11_776-10dupFanconi anemia [RCV002215925]benign25816308358163084Human1name
152133279CV1585219single nucleotide variantNM_018062.4(FANCL):c.39C>T (p.Pro13=)Fanconi anemia [RCV002083160]likely benign25824127558241275Human1name
152044970CV1588689microsatelliteNM_018062.4(FANCL):c.374+19_374+20delFanconi anemia [RCV002188728]likely benign25822192258221923Humanname
152126687CV1596281microsatelliteNM_018062.4(FANCL):c.375-13_375-11delFanconi anemia [RCV002118550]likely benign25820423758204239Humanname
152148393CV1640306single nucleotide variantNM_018062.4(FANCL):c.39C>G (p.Pro13=)Fanconi anemia [RCV002157787]likely benign25824127558241275Human1name
153001505CV1684329single nucleotide variantNM_018062.4(FANCL):c.1A>G (p.Met1Val)Fanconi anemia [RCV002256968]|Fanconi anemia complementation group L [RCV005032201]pathogenic|likely pathogenic25824131358241313Human2name
156191866CV1915986single nucleotide variantNM_018062.4(FANCL):c.51C>T (p.Pro17=)Fanconi anemia [RCV002595402]likely benign25824126358241263Human1name
156418870CV1918878single nucleotide variantNM_018062.4(FANCL):c.57C>T (p.Asn19=)Fanconi anemia [RCV002612080]likely benign25824125758241257Human1name
156200366CV1928949deletionNM_018062.4(FANCL):c.904-18_904-15delFanconi anemia [RCV002643612]likely benign25816165358161656Human1name
156214689CV2047466single nucleotide variantNM_018062.4(FANCL):c.1A>C (p.Met1Leu)Fanconi anemia [RCV002790386]pathogenic|likely pathogenic25824131358241313Human1name
156114754CV2084797deletionNM_018062.4(FANCL):c.374+16_374+20delFanconi anemia [RCV002889329]likely benign25822192258221926Human1name
156363499CV2180663single nucleotide variantNM_018062.4(FANCL):c.4G>A (p.Ala2Thr)Fanconi anemia [RCV003049185]uncertain significance25824131058241310Human1name
11345820CV238969single nucleotide variantNM_018062.4(FANCL):c.4G>T (p.Ala2Ser)Fanconi anemia [RCV000226400]|Fanconi anemia complementation group L [RCV001137468]uncertain significance25824131058241310Human2name
401929573CV2815816single nucleotide variantNM_018062.4(FANCL):c.42G>C (p.Leu14=)not provided [RCV003407239]likely benign25824127258241272Humanname
402489460CV2880369microsatelliteNM_018062.4(FANCL):c.903+16_903+17delFanconi anemia [RCV003522252]likely benign25816284958162850Humanname
404989484CV2892880single nucleotide variantNM_018062.4(FANCL):c.30C>T (p.Arg10=)Fanconi anemia [RCV003524924]likely benign25824128458241284Human1name
405069592CV2897356single nucleotide variantNM_018062.4(FANCL):c.75T>C (p.Tyr25=)Fanconi anemia [RCV003523725]likely benign25824123958241239Human1name
405142923CV2946538single nucleotide variantNM_018062.4(FANCL):c.90G>T (p.Ser30=)Fanconi anemia [RCV003636072]likely benign25824122458241224Human1name
405143240CV2947699single nucleotide variantNM_018062.4(FANCL):c.60G>A (p.Arg20=)Fanconi anemia [RCV003636127]likely benign25824125458241254Human1name
404997569CV3123885single nucleotide variantNM_018062.4(FANCL):c.46C>T (p.Leu16=)Fanconi anemia [RCV003827792]likely benign25824126858241268Human1name
405184820CV3152838deletionNM_018062.4(FANCL):c.13del (p.Glu5fs)Fanconi anemia [RCV003842829]|Fanconi anemia complementation group L [RCV004573356]pathogenic|likely pathogenic25824130158241301Human2name
597689470CV3713586single nucleotide variantNM_018062.4(FANCL):c.5C>G (p.Ala2Gly)Fanconi anemia complementation group L [RCV005032370]uncertain significance25824130958241309Human1name
597943826CV3754892single nucleotide variantNM_018062.4(FANCL):c.33G>A (p.Gln11=)Fanconi anemia [RCV005078081]likely benign25824128158241281Human1name
597876998CV3813304microsatelliteNM_018062.4(FANCL):c.691+14_691+16delFanconi anemia [RCV005149240]likely benign25816570858165710Humanname
13495733CV451737single nucleotide variantNM_018062.4(FANCL):c.51C>G (p.Pro17=)Fanconi anemia [RCV000559837]likely benign25824126358241263Human1name
13613309CV518581single nucleotide variantNM_018062.4(FANCL):c.81A>C (p.Gly27=)Fanconi anemia [RCV000631019]likely benign25824123358241233Human1name
13819125CV561853microsatelliteNM_018062.4(FANCL):c.1092+1_1092+5delFanconi anemia [RCV000694144]likely pathogenic25816010358160107Humanname
13807509CV561859single nucleotide variantNM_018062.4(FANCL):c.2T>C (p.Met1Thr)Fanconi anemia [RCV000686799]|Fanconi anemia complementation group L [RCV001729683]|not provided [RCV001090968]|not specified [RCV001816699]pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records25824131258241312Human2name
15130605CV747722single nucleotide variantNM_018062.4(FANCL):c.39C>A (p.Pro13=)Fanconi anemia [RCV001482370]likely benign25824127558241275Human1name
15136319CV781408single nucleotide variantNM_018062.4(FANCL):c.93T>C (p.Ala31=)Fanconi anemia [RCV001517077]benign25824122158241221Human1name
26893973CV826861single nucleotide variantNM_018062.4(FANCL):c.2T>G (p.Met1Arg)Fanconi anemia [RCV001069191]pathogenic|likely pathogenic25824131258241312Human1name
28885266CV885248single nucleotide variantNM_018062.4(FANCL):c.5C>T (p.Ala2Val)Fanconi anemia [RCV005093609]|Fanconi anemia complementation group L [RCV001137467]|not specified [RCV001819842]uncertain significance25824130958241309Human2name
38478814CV931535single nucleotide variantNM_018062.4(FANCL):c.3G>A (p.Met1Ile)Fanconi anemia [RCV001205714]pathogenic|likely pathogenic25824131158241311Human1name
126726691CV1024656single nucleotide variantNM_018062.4(FANCL):c.27G>C (p.Leu9Phe)Fanconi anemia [RCV001348529]|Fanconi anemia complementation group L [RCV002476605]uncertain significance25824128758241287Human2name
126763544CV1024657single nucleotide variantNM_018062.4(FANCL):c.22C>A (p.Leu8Met)Fanconi anemia [RCV001341317]|Fanconi anemia complementation group L [RCV002499676]uncertain significance25824129258241292Human2name
126922972CV1041622single nucleotide variantNM_018062.4(FANCL):c.20G>T (p.Ser7Ile)Fanconi anemia [RCV001365311]|Fanconi anemia complementation group L [RCV002493866]uncertain significance25824129458241294Human2name
127281143CV1091497single nucleotide variantNM_018062.4(FANCL):c.261G>A (p.Leu87=)Fanconi anemia [RCV001446917]likely benign25822674058226740Human1name
127305227CV1112994single nucleotide variantNM_018062.4(FANCL):c.129T>G (p.Pro43=)Fanconi anemia [RCV001455212]likely benign25823208058232080Human1name
151776002CV1439467single nucleotide variantNM_018062.4(FANCL):c.20G>C (p.Ser7Thr)Fanconi anemia [RCV002009295]|Fanconi anemia complementation group L [RCV005025636]uncertain significance25824129458241294Human2name
152059201CV1559007single nucleotide variantNM_018062.4(FANCL):c.153A>G (p.Ala51=)Fanconi anemia [RCV002167794]likely benign25823205658232056Human1name
152090489CV1563282duplicationNM_018062.4(FANCL):c.1093-19_1093-9dupFanconi anemia [RCV002114011]|Fanconi anemia complementation group L [RCV002494372]likely benign25815980858159809Human2name
152079715CV1579906single nucleotide variantNM_018062.4(FANCL):c.102A>G (p.Arg34=)Fanconi anemia [RCV002076205]likely benign25823210758232107Human1name
156359124CV1873962single nucleotide variantNM_018062.4(FANCL):c.213A>G (p.Gln71=)Fanconi anemia [RCV003065483]likely benign25822981758229817Human1name
156353085CV1879913single nucleotide variantNM_018062.4(FANCL):c.147G>A (p.Lys49=)Fanconi anemia [RCV003065020]likely benign25823206258232062Human1name
155960469CV1912090single nucleotide variantNM_018062.4(FANCL):c.27G>T (p.Leu9Phe)Fanconi anemia [RCV002616707]uncertain significance25824128758241287Human1name
156097531CV1920508single nucleotide variantNM_018062.4(FANCL):c.105C>T (p.Asp35=)Fanconi anemia [RCV002592148]likely benign25823210458232104Human1name
156083618CV1992899single nucleotide variantNM_018062.4(FANCL):c.210A>G (p.Val70=)Fanconi anemia [RCV002638980]likely benign25822982058229820Human1name
156366216CV2010758deletionNM_018062.4(FANCL):c.28del (p.Arg10fs)Fanconi anemia [RCV002676578]|Fanconi anemia complementation group L [RCV003465815]pathogenic|likely pathogenic25824128658241286Human2name
156020432CV2109518deletionNM_018062.4(FANCL):c.1093-10_1093-8delFanconi anemia [RCV002923035]likely benign25815980858159810Human1name
401941247CV2835797deletionNM_018062.4(FANCL):c.70del (p.Val24fs)Fanconi anemia complementation group L [RCV003461563]likely pathogenic25824124458241244Human1name
402490708CV2887114deletionNM_018062.4(FANCL):c.1020+9_1020+11delFanconi anemia [RCV003525151]likely benign25816151158161513Human1name
404990823CV2889895single nucleotide variantNM_018062.4(FANCL):c.138A>G (p.Leu46=)Fanconi anemia [RCV003525040]likely benign25823207158232071Human1name
404991702CV2890311single nucleotide variantNM_018062.4(FANCL):c.291T>C (p.Asn97=)Fanconi anemia [RCV003525130]likely benign25822202558222025Human1name
405066791CV2902730single nucleotide variantNM_018062.4(FANCL):c.141A>G (p.Gln47=)Fanconi anemia [RCV003523552]likely benign25823206858232068Human1name
405057640CV2922864single nucleotide variantNM_018062.4(FANCL):c.129T>C (p.Pro43=)Fanconi anemia [RCV003522704]likely benign25823208058232080Human1name
405152230CV2952781single nucleotide variantNM_018062.4(FANCL):c.150T>C (p.Asn50=)Fanconi anemia [RCV003636918]likely benign25823205958232059Human1name
405145160CV2953882single nucleotide variantNM_018062.4(FANCL):c.240A>C (p.Leu80=)Fanconi anemia [RCV003636286]likely benign25822676158226761Human1name
405166377CV3017432single nucleotide variantNM_018062.4(FANCL):c.276A>G (p.Glu92=)Fanconi anemia [RCV003638098]likely benign25822204058222040Human1name
405149368CV3068617single nucleotide variantNM_018062.4(FANCL):c.234T>C (p.Pro78=)Fanconi anemia [RCV003636679]likely benign25822676758226767Human1name
405042467CV3141226single nucleotide variantNM_018062.4(FANCL):c.202C>A (p.Arg68=)Fanconi anemia [RCV003831519]likely benign25822982858229828Human1name
402495180CV3183066single nucleotide variantNM_018062.4(FANCL):c.282C>T (p.Ala94=)Fanconi anemia [RCV003877374]likely benign25822203458222034Human1name
407492463CV3432089single nucleotide variantNM_018062.4(FANCL):c.17C>T (p.Ala6Val)Inborn genetic diseases [RCV004620787]uncertain significance25824129758241297Human1name
597649379CV3713584deletionNM_018062.4(FANCL):c.52del (p.Gln18fs)Fanconi anemia complementation group L [RCV005026667]likely pathogenic25824126258241262Human1name
597956497CV3838233single nucleotide variantNM_018062.4(FANCL):c.22C>G (p.Leu8Val)Fanconi anemia [RCV005191608]uncertain significance25824129258241292Human1name
13801486CV558249duplicationNM_018062.4(FANCL):c.40dup (p.Leu14fs)Fanconi anemia [RCV000697873]pathogenic25824127358241274Human1name
15128998CV691186single nucleotide variantNM_018062.4(FANCL):c.117G>A (p.Arg39=)Fanconi anemia [RCV001391723]likely benign25823209258232092Human1name
26900653CV826860single nucleotide variantNM_018062.4(FANCL):c.21C>G (p.Ser7Arg)Fanconi anemia [RCV001035382]uncertain significance25824129358241293Human1name
38488463CV931534single nucleotide variantNM_018062.4(FANCL):c.20G>A (p.Ser7Asn)Fanconi anemia [RCV001209758]|Fanconi anemia complementation group L [RCV002491640]uncertain significance25824129458241294Human2name
38473885CV943055deletionNM_018062.4(FANCL):c.40del (p.Leu14fs)Fanconi anemia [RCV001231987]|Fanconi anemia complementation group L [RCV002480759]pathogenic|likely pathogenic25824127458241274Human2name
127294526CV1112990single nucleotide variantNM_018062.4(FANCL):c.948C>T (p.Asp316=)Fanconi anemia [RCV001476843]likely benign25816159458161594Human1name
127288038CV1112992single nucleotide variantNM_018062.4(FANCL):c.873T>C (p.Asp291=)Fanconi anemia [RCV001450343]likely benign25816289658162896Human1name
150412494CV1176196microsatelliteNM_018062.4(FANCL):c.540+178_540+179delnot provided [RCV001547537]likely benign25819841558198416Humanname
150419430CV1193181deletionNM_018062.4(FANCL):c.156-263_156-262delnot provided [RCV001569685]likely benign25823013658230137Humanname
150451514CV1207221single nucleotide variantNM_018062.4(FANCL):c.50C>G (p.Pro17Arg)Fanconi anemia [RCV002573350]|Fanconi anemia complementation group L [RCV002477857]|not specified [RCV001582350]uncertain significance25824126458241264Human2name
150481063CV1222091duplicationNM_018062.4(FANCL):c.541-292_541-290dupnot provided [RCV001616888]benign25816616358166164Humanname
151355302CV1328369single nucleotide variantNM_018062.4(FANCL):c.35G>A (p.Cys12Tyr)Fanconi anemia [RCV002542614]|not specified [RCV001820374]uncertain significance25824127958241279Human1name
151729563CV1335387single nucleotide variantNM_018062.4(FANCL):c.49C>T (p.Pro17Ser)not specified [RCV001844705]uncertain significance25824126558241265Humanname
151892244CV1337501single nucleotide variantNM_018062.4(FANCL):c.942A>G (p.Gln314=)Fanconi anemia [RCV001943911]likely benign|uncertain significance25816160058161600Human1name
151860165CV1389799single nucleotide variantNM_018062.4(FANCL):c.57C>G (p.Asn19Lys)Fanconi anemia [RCV001905173]uncertain significance25824125758241257Human1name
151799658CV1396576single nucleotide variantNM_018062.4(FANCL):c.28C>G (p.Arg10Gly)Fanconi anemia [RCV001917595]|Fanconi anemia complementation group L [RCV002503507]uncertain significance25824128658241286Human2name
151775669CV1413647single nucleotide variantNM_018062.4(FANCL):c.894G>T (p.Leu298=)Fanconi anemia [RCV001971604]likely benign25816287558162875Human1name
151784072CV1474546single nucleotide variantNM_018062.4(FANCL):c.44T>A (p.Leu15His)Fanconi anemia [RCV001930715]uncertain significance25824127058241270Human1name
151757615CV1509035single nucleotide variantNM_018062.4(FANCL):c.727A>C (p.Arg243=)Fanconi anemia [RCV002024013]likely benign25816348258163482Human1name
152130416CV1519686deletionNM_018062.4(FANCL):c.1093-34_1093-16delFanconi anemia [RCV002155453]likely benign25815981658159834Human1name
152117230CV1524062single nucleotide variantNM_018062.4(FANCL):c.588A>T (p.Ser196=)Fanconi anemia [RCV002135251]likely benign25816582758165827Human1name
152089663CV1535627single nucleotide variantNM_018062.4(FANCL):c.381G>T (p.Val127=)Fanconi anemia [RCV002150425]likely benign25820422058204220Human1name
152077111CV1536332single nucleotide variantNM_018062.4(FANCL):c.528C>T (p.Ser176=)Fanconi anemia [RCV002148830]likely benign25819860658198606Human1name
152081856CV1548339single nucleotide variantNM_018062.4(FANCL):c.921T>C (p.Cys307=)Fanconi anemia [RCV002076474]likely benign25816162158161621Human1name
152077338CV1564661single nucleotide variantNM_018062.4(FANCL):c.750G>A (p.Glu250=)Fanconi anemia [RCV002192587]likely benign25816345958163459Human1name
152136744CV1580305single nucleotide variantNM_018062.4(FANCL):c.435T>G (p.Gly145=)Fanconi anemia [RCV002156235]likely benign25820416658204166Human1name
152056376CV1588214single nucleotide variantNM_018062.4(FANCL):c.561T>C (p.Tyr187=)Fanconi anemia [RCV002190014]likely benign25816585458165854Human1name
152093205CV1593347single nucleotide variantNM_018062.4(FANCL):c.507T>C (p.Phe169=)Fanconi anemia [RCV002094478]likely benign25819862758198627Human1name
152066974CV1601817single nucleotide variantNM_018062.4(FANCL):c.589C>T (p.Leu197=)Fanconi anemia [RCV002168798]likely benign25816582658165826Human1name
152113707CV1605974single nucleotide variantNM_018062.4(FANCL):c.310C>T (p.Leu104=)Fanconi anemia [RCV002116897]likely benign25822200658222006Human1name
152155832CV1620660single nucleotide variantNM_018062.4(FANCL):c.525C>T (p.Ala175=)Fanconi anemia [RCV002122404]|Fanconi anemia complementation group L [RCV002499976]likely benign25819860958198609Human2name
152139705CV1625017single nucleotide variantNM_018062.4(FANCL):c.384T>C (p.Tyr128=)Fanconi anemia [RCV002219210]likely benign25820421758204217Human1name
152141810CV1626051single nucleotide variantNM_018062.4(FANCL):c.591A>G (p.Leu197=)Fanconi anemia [RCV002138271]likely benign25816582458165824Human1name
152076440CV1632709single nucleotide variantNM_018062.4(FANCL):c.804C>T (p.Ser268=)Fanconi anemia [RCV002169978]likely benign25816304658163046Human1name
152029480CV1653259single nucleotide variantNM_018062.4(FANCL):c.879A>T (p.Pro293=)Fanconi anemia [RCV002085817]likely benign25816289058162890Human1name
152091647CV1655059single nucleotide variantNM_018062.4(FANCL):c.417A>G (p.Lys139=)Fanconi anemia [RCV002212808]likely benign25820418458204184Human1name
153001077CV1684331single nucleotide variantNM_018062.4(FANCL):c.624T>C (p.Asp208=)Fanconi anemia [RCV002255790]likely benign25816579158165791Human1name
155266767CV1699305single nucleotide variantNM_018062.4(FANCL):c.37C>G (p.Pro13Ala)not provided [RCV002283100]uncertain significance25824127758241277Humanname
155268250CV1701684duplicationNM_018062.4(FANCL):c.1_22dup (p.Leu8fs)Fanconi anemia complementation group L [RCV002283914]likely pathogenic25824129158241292Human1name
156396641CV1870872deletionNM_018062.4(FANCL):c.1021-22_1021-20delFanconi anemia [RCV003068673]likely benign25816019958160201Human1name
156117871CV1877518single nucleotide variantNM_018062.4(FANCL):c.46C>A (p.Leu16Met)Fanconi anemia [RCV003081310]|Inborn genetic diseases [RCV004978538]uncertain significance25824126858241268Human2name
156412661CV1886827single nucleotide variantNM_018062.4(FANCL):c.68C>T (p.Thr23Ile)Fanconi anemia [RCV003072986]|Fanconi anemia complementation group L [RCV005028207]uncertain significance25824124658241246Human2name
156043527CV1887299single nucleotide variantNM_018062.4(FANCL):c.324C>G (p.Pro108=)Fanconi anemia [RCV003078612]likely benign25822199258221992Human1name
156406816CV1917876single nucleotide variantNM_018062.4(FANCL):c.951T>G (p.Gly317=)Fanconi anemia [RCV002606711]likely benign25816159158161591Human1name
156162992CV1934732single nucleotide variantNM_018062.4(FANCL):c.62C>G (p.Ser21Trp)Fanconi anemia [RCV002664320]uncertain significance25824125258241252Human1name
156236215CV1952793single nucleotide variantNM_018062.4(FANCL):c.699T>C (p.Asn233=)Fanconi anemia [RCV002576062]likely benign25816351058163510Human1name
156094686CV1980840single nucleotide variantNM_018062.4(FANCL):c.35G>C (p.Cys12Ser)Fanconi anemia [RCV002621986]uncertain significance25824127958241279Human1name
155904806CV2007267single nucleotide variantNM_018062.4(FANCL):c.405C>G (p.Thr135=)Fanconi anemia [RCV002681327]likely benign25820419658204196Human1name
10404682CV205671deletionNM_018062.4(FANCL):c.268del (p.Leu90fs)Fanconi anemia [RCV001388973]|Fanconi anemia complementation group L [RCV000191022]|VATER association [RCV001195063]pathogenic25822673358226733Human3name
156128809CV2125039single nucleotide variantNM_018062.4(FANCL):c.456C>G (p.Leu152=)Fanconi anemia [RCV002953798]likely benign25820414558204145Human1name
10767359CV221318single nucleotide variantNM_018062.4(FANCL):c.693T>G (p.Gly231=)Fanconi anemia [RCV002515516]likely benign25816351658163516Human1name
243058931CV2410006single nucleotide variantNM_018062.4(FANCL):c.56A>G (p.Asn19Ser)Fanconi anemia complementation group L [RCV003147180]uncertain significance25824125858241258Human1name
11551831CV250750single nucleotide variantNM_018062.4(FANCL):c.981T>C (p.Ser327=)Fanconi anemia [RCV000282580]|Fanconi anemia complementation group L [RCV001094693]|not provided [RCV001706324]|not specified [RCV000253562]benign25816156158161561Human3name
11551831CV250750single nucleotide variantNM_018062.4(FANCL):c.981T>C (p.Ser327=)Fanconi anemia [RCV000282580]|Fanconi anemia complementation group L [RCV001094693]|not provided [RCV001706324]|not specified [RCV000253562]benign25816156158161562Human3name
401941240CV2835787single nucleotide variantNM_018062.4(FANCL):c.89C>A (p.Ser30Ter)Fanconi anemia [RCV003636036]|Fanconi anemia complementation group L [RCV003461556]pathogenic|likely pathogenic25824122558241225Human2name
401941244CV2835794single nucleotide variantNM_018062.4(FANCL):c.64A>T (p.Lys22Ter)Fanconi anemia complementation group L [RCV003461560]likely pathogenic25824125058241250Human1name
405074197CV2856161single nucleotide variantNM_018062.4(FANCL):c.805A>C (p.Arg269=)Fanconi anemia [RCV003524041]uncertain significance25816304558163045Human1name
11593452CV287621single nucleotide variantNM_018062.4(FANCL):c.969G>A (p.Val323=)Fanconi anemia [RCV001450124]|Fanconi anemia complementation group L [RCV000349182]likely benign|uncertain significance25816157358161573Human2name
405077507CV2878693single nucleotide variantNM_018062.4(FANCL):c.666T>C (p.Ser222=)Fanconi anemia [RCV003524270]likely benign25816574958165749Human1name
405053715CV2884558single nucleotide variantNM_018062.4(FANCL):c.480A>G (p.Ala160=)Fanconi anemia [RCV003522392]likely benign25819865458198654Human1name
404989515CV2893001single nucleotide variantNM_018062.4(FANCL):c.528C>G (p.Ser176=)Fanconi anemia [RCV003524928]likely benign25819860658198606Human1name
404992196CV2894085deletionNM_018062.4(FANCL):c.235del (p.Asp79fs)Fanconi anemia [RCV003525191]pathogenic25822676658226766Human1name
402490776CV2894158duplicationNM_018062.4(FANCL):c.1021-18_1021-14dupFanconi anemia [RCV003525194]likely benign25816019258160193Human1name
405069410CV2896973single nucleotide variantNM_018062.4(FANCL):c.654A>G (p.Lys218=)Fanconi anemia [RCV003523712]likely benign25816576158165761Human1name
405079181CV2913287single nucleotide variantNM_018062.4(FANCL):c.954C>T (p.Thr318=)Fanconi anemia [RCV003524413]likely benign25816158858161588Human1name
405079424CV2919487single nucleotide variantNM_018062.4(FANCL):c.80G>T (p.Gly27Val)Fanconi anemia [RCV003524437]uncertain significance25824123458241234Human1name
404986599CV2920962single nucleotide variantNM_018062.4(FANCL):c.642T>C (p.Leu214=)Fanconi anemia [RCV003524608]likely benign25816577358165773Human1name
405058709CV2923251single nucleotide variantNM_018062.4(FANCL):c.330C>T (p.Phe110=)Fanconi anemia [RCV003522767]likely benign25822198658221986Human1name
405056682CV2928624single nucleotide variantNM_018062.4(FANCL):c.768T>C (p.Ala256=)Fanconi anemia [RCV003522623]likely benign25816344158163441Human1name
404988574CV2931236single nucleotide variantNM_018062.4(FANCL):c.702T>C (p.Val234=)Fanconi anemia [RCV003524805]likely benign25816350758163507Human1name
405142673CV2946187single nucleotide variantNM_018062.4(FANCL):c.924A>T (p.Gly308=)Fanconi anemia [RCV003636049]likely benign25816161858161618Human1name
405153956CV2965334single nucleotide variantNM_018062.4(FANCL):c.933T>C (p.Tyr311=)Fanconi anemia [RCV003637051]likely benign25816160958161609Human1name
405153197CV2974789single nucleotide variantNM_018062.4(FANCL):c.336A>G (p.Ser112=)Fanconi anemia [RCV003636993]likely benign25822198058221980Human1name
405155511CV2984632single nucleotide variantNM_018062.4(FANCL):c.819G>A (p.Leu273=)Fanconi anemia [RCV003637172]likely benign25816303158163031Human1name
405155538CV2984673single nucleotide variantNM_018062.4(FANCL):c.858T>C (p.Asp286=)Fanconi anemia [RCV003637174]likely benign25816291158162911Human1name
405156090CV2988307single nucleotide variantNM_018062.4(FANCL):c.786C>T (p.Pro262=)Fanconi anemia [RCV003637222]likely benign25816306458163064Human1name
405161877CV3002019single nucleotide variantNM_018062.4(FANCL):c.513T>C (p.Val171=)Fanconi anemia [RCV003637690]likely benign25819862158198621Human1name
405164109CV3011848single nucleotide variantNM_018062.4(FANCL):c.345T>A (p.Ile115=)Fanconi anemia [RCV003637892]likely benign25822197158221971Human1name
405040527CV3015344deletionNM_018062.4(FANCL):c.1021-23_1021-15delFanconi anemia [RCV003637946]likely benign25816019458160202Human1name
405166513CV3017724single nucleotide variantNM_018062.4(FANCL):c.543C>T (p.Ser181=)Fanconi anemia [RCV003638111]likely benign25816587258165872Human1name
405136912CV3022454single nucleotide variantNM_018062.4(FANCL):c.450C>A (p.Ile150=)Fanconi anemia [RCV003635461]likely benign25820415158204151Human1name
405138148CV3027084single nucleotide variantNM_018062.4(FANCL):c.309A>G (p.Ala103=)Fanconi anemia [RCV003635557]likely benign25822200758222007Human1name
405140652CV3046495single nucleotide variantNM_018062.4(FANCL):c.62C>A (p.Ser21Ter)Fanconi anemia [RCV003635803]pathogenic25824125258241252Human1name
405140983CV3050211single nucleotide variantNM_018062.4(FANCL):c.834T>C (p.Asn278=)Fanconi anemia [RCV003635833]likely benign25816293558162935Human1name
405147671CV3052291single nucleotide variantNM_018062.4(FANCL):c.318T>C (p.Pro106=)Fanconi anemia [RCV003636524]likely benign25822199858221998Human1name
405140380CV3053011single nucleotide variantNM_018062.4(FANCL):c.663G>T (p.Arg221=)Fanconi anemia [RCV003635779]likely benign25816575258165752Human1name
405141274CV3053877single nucleotide variantNM_018062.4(FANCL):c.801G>A (p.Leu267=)Fanconi anemia [RCV003635861]likely benign|uncertain significance25816304958163049Human1name
405150990CV3066542single nucleotide variantNM_018062.4(FANCL):c.31C>T (p.Gln11Ter)Fanconi anemia [RCV003636821]pathogenic25824128358241283Human1name
405158739CV3071202single nucleotide variantNM_018062.4(FANCL):c.312A>G (p.Leu104=)Fanconi anemia [RCV003637438]likely benign25822200458222004Human1name
405151808CV3073502single nucleotide variantNM_018062.4(FANCL):c.693T>C (p.Gly231=)Fanconi anemia [RCV003636885]likely benign25816351658163516Human1name
405158578CV3073832single nucleotide variantNM_018062.4(FANCL):c.936T>G (p.Ala312=)Fanconi anemia [RCV003637425]likely benign25816160658161606Human1name
405181185CV3119929single nucleotide variantNM_018062.4(FANCL):c.726C>A (p.Pro242=)Fanconi anemia [RCV003820022]likely benign25816348358163483Human1name
405197498CV3132055duplicationNM_018062.4(FANCL):c.1021-18_1021-15dupFanconi anemia [RCV003821648]likely benign25816019358160194Human1name
404993149CV3132352single nucleotide variantNM_018062.4(FANCL):c.663G>C (p.Arg221=)Fanconi anemia [RCV003827290]likely benign25816575258165752Human1name
405218526CV3143859single nucleotide variantNM_018062.4(FANCL):c.333C>T (p.Tyr111=)Fanconi anemia [RCV003846829]likely benign25822198358221983Human1name
405204164CV3165505single nucleotide variantNM_018062.4(FANCL):c.47T>G (p.Leu16Arg)Fanconi anemia [RCV003861171]uncertain significance25824126758241267Human1name
405195659CV3168063single nucleotide variantNM_018062.4(FANCL):c.429T>C (p.Ala143=)Fanconi anemia [RCV003860195]likely benign25820417258204172Human1name
405254239CV3175050single nucleotide variantNM_018062.4(FANCL):c.363T>C (p.Leu121=)Fanconi anemia [RCV003871502]likely benign25822195358221953Human1name
405254501CV3175169single nucleotide variantNM_018062.4(FANCL):c.390T>C (p.Asp130=)Fanconi anemia [RCV003871621]likely benign25820421158204211Human1name
405762491CV3253027single nucleotide variantNM_018062.4(FANCL):c.28C>A (p.Arg10Ser)Inborn genetic diseases [RCV004383743]uncertain significance25824128658241286Human1name
597649325CV3713572single nucleotide variantNM_018062.4(FANCL):c.375A>G (p.Lys125=)Fanconi anemia complementation group L [RCV005026661]uncertain significance25820422658204226Human1name
597689460CV3713582single nucleotide variantNM_018062.4(FANCL):c.87C>G (p.Ile29Met)Fanconi anemia complementation group L [RCV005032369]uncertain significance25824122758241227Human1name
597649369CV3713583single nucleotide variantNM_018062.4(FANCL):c.58C>T (p.Arg20Trp)Fanconi anemia complementation group L [RCV005026666]|Inborn genetic diseases [RCV005336043]uncertain significance25824125658241256Human2name
597649387CV3713585single nucleotide variantNM_018062.4(FANCL):c.36C>G (p.Cys12Trp)Fanconi anemia complementation group L [RCV005026668]uncertain significance25824127858241278Human1name
597940392CV3772032single nucleotide variantNM_018062.4(FANCL):c.309A>C (p.Ala103=)Fanconi anemia [RCV005118287]likely benign25822200758222007Human1name
597926729CV3778533single nucleotide variantNM_018062.4(FANCL):c.444T>C (p.His148=)Fanconi anemia [RCV005131056]likely benign25820415758204157Human1name
597927717CV3783508single nucleotide variantNM_018062.4(FANCL):c.672A>G (p.Thr224=)Fanconi anemia [RCV005116196]likely benign25816574358165743Human1name
597876759CV3813270single nucleotide variantNM_018062.4(FANCL):c.351G>A (p.Glu117=)Fanconi anemia [RCV005149206]likely benign25822196558221965Human1name
597868117CV3858246single nucleotide variantNM_018062.4(FANCL):c.405C>T (p.Thr135=)Fanconi anemia [RCV005196989]likely benign25820419658204196Human1name
12890206CV393035single nucleotide variantNM_018062.4(FANCL):c.817T>C (p.Leu273=)Fanconi anemia [RCV000474184]|Fanconi anemia complementation group L [RCV001140350]|not specified [RCV000502034]benign|likely benign25816303358163033Human2name
12880699CV393038single nucleotide variantNM_018062.4(FANCL):c.387G>A (p.Ala129=)Fanconi anemia [RCV000456498]|not specified [RCV003151070]likely benign25820421458204214Human1name
12889620CV393231single nucleotide variantNM_018062.4(FANCL):c.534A>G (p.Thr178=)Fanconi anemia [RCV000473068]|Fanconi anemia complementation group L [RCV001142206]|not provided [RCV002469161]|not specified [RCV001821349]likely benign|uncertain significance25819860058198600Human2name
12890161CV393423single nucleotide variantNM_018062.4(FANCL):c.918T>C (p.Asp306=)Fanconi anemia [RCV000474108]likely benign25816162458161624Human1name
12882499CV393424single nucleotide variantNM_018062.4(FANCL):c.846A>G (p.Gln282=)FANCL-related disorder [RCV003932745]|Fanconi anemia [RCV000459783]likely benign25816292358162923Human2name , trait , alternate_id
13213009CV428080single nucleotide variantNM_018062.4(FANCL):c.402T>C (p.Ser134=)Fanconi anemia [RCV000546166]|not provided [RCV004711132]|not specified [RCV000499501]benign|likely benign25820419958204199Human1name
13481997CV451534single nucleotide variantNM_018062.4(FANCL):c.705C>T (p.Ser235=)Fanconi anemia [RCV000529205]likely benign25816350458163504Human1name
15155226CV686228single nucleotide variantNM_018062.4(FANCL):c.621C>T (p.Ile207=)Fanconi anemia [RCV000868003]|Fanconi anemia complementation group L [RCV002495276]|not provided [RCV005427327]likely benign25816579458165794Human2name
15149781CV686229single nucleotide variantNM_018062.4(FANCL):c.546C>T (p.Ser182=)FANCL-related disorder [RCV003908229]|Fanconi anemia [RCV000866923]|not provided [RCV003413686]likely benign25816586958165869Human2name , trait , alternate_id
15111289CV691185single nucleotide variantNM_018062.4(FANCL):c.420A>G (p.Ala140=)Fanconi anemia [RCV000872284]likely benign25820418158204181Human1name
15168385CV697608single nucleotide variantNM_018062.4(FANCL):c.993A>G (p.Gln331=)Fanconi anemia [RCV003635933]likely benign25816154958161549Human1name
26908303CV826856single nucleotide variantNM_018062.4(FANCL):c.378T>A (p.Leu126=)Fanconi anemia [RCV001038280]|Fanconi anemia complementation group L [RCV001142211]likely benign|uncertain significance25820422358204223Human2name
26899544CV826857single nucleotide variantNM_018062.4(FANCL):c.89C>G (p.Ser30Trp)Fanconi anemia [RCV001049262]uncertain significance25824122558241225Human1name
26902195CV826858single nucleotide variantNM_018062.4(FANCL):c.76G>C (p.Glu26Gln)Fanconi anemia [RCV001035896]|Fanconi anemia complementation group L [RCV002481853]uncertain significance25824123858241238Human2name
26886162CV826859single nucleotide variantNM_018062.4(FANCL):c.36C>A (p.Cys12Ter)Fanconi anemia [RCV001044015]pathogenic25824127858241278Human1name
28894003CV885242single nucleotide variantNM_018062.4(FANCL):c.795T>C (p.Ile265=)Fanconi anemia complementation group L [RCV001140351]uncertain significance25816305558163055Human1name
38496645CV943054single nucleotide variantNM_018062.4(FANCL):c.44T>C (p.Leu15Pro)Fanconi anemia [RCV001226529]uncertain significance25824127058241270Human1name
126748794CV1004187single nucleotide variantNM_018062.4(FANCL):c.203G>A (p.Arg68Gln)Fanconi anemia [RCV001326408]|Fanconi anemia complementation group L [RCV002493704]uncertain significance25822982758229827Human2name
127273348CV1059424single nucleotide variantNM_018062.4(FANCL):c.202C>T (p.Arg68Ter)Fanconi anemia [RCV001390762]|Fanconi anemia complementation group L [RCV004570975]pathogenic|likely pathogenic25822982858229828Human2name
151355412CV1328479single nucleotide variantNM_018062.4(FANCL):c.110A>T (p.His37Leu)not specified [RCV001820484]uncertain significance25823209958232099Humanname
151805691CV1340110single nucleotide variantNM_018062.4(FANCL):c.274G>A (p.Glu92Lys)Fanconi anemia [RCV001867533]uncertain significance25822204258222042Human1name
151782656CV1347384single nucleotide variantNM_018062.4(FANCL):c.224A>G (p.Gln75Arg)Fanconi anemia [RCV002046313]uncertain significance25822677758226777Human1name
151824702CV1350986single nucleotide variantNM_018062.4(FANCL):c.295C>T (p.Gln99Ter)Fanconi anemia [RCV001919910]pathogenic25822202158222021Human1name
151792563CV1351119single nucleotide variantNM_018062.4(FANCL):c.173A>G (p.Gln58Arg)Fanconi anemia [RCV001990216]uncertain significance25822985758229857Human1name
151802888CV1352163single nucleotide variantNM_018062.4(FANCL):c.155G>A (p.Arg52Lys)Fanconi anemia [RCV002048142]|Fanconi anemia complementation group L [RCV005232771]uncertain significance25823205458232054Human2name
151751380CV1385368single nucleotide variantNM_018062.4(FANCL):c.197A>G (p.Tyr66Cys)Fanconi anemia [RCV001969222]uncertain significance25822983358229833Human1name
151874781CV1388223single nucleotide variantNM_018062.4(FANCL):c.167G>C (p.Ser56Thr)Fanconi anemia [RCV001981761]uncertain significance25822986358229863Human1name
151790041CV1399758single nucleotide variantNM_018062.4(FANCL):c.1005A>G (p.Gln335=)Fanconi anemia [RCV001916729]likely benign|uncertain significance25816153758161537Human1name
151796845CV1400972single nucleotide variantNM_018062.4(FANCL):c.121G>T (p.Val41Leu)Fanconi anemia [RCV002011204]|Fanconi anemia complementation group L [RCV005025630]uncertain significance25823208858232088Human2name
151879853CV1412748single nucleotide variantNM_018062.4(FANCL):c.241A>G (p.Met81Val)Fanconi anemia [RCV001926286]|Fanconi anemia complementation group L [RCV002507589]uncertain significance25822676058226760Human2name
151861984CV1420098single nucleotide variantNM_018062.4(FANCL):c.191G>A (p.Ser64Asn)Fanconi anemia [RCV001980235]uncertain significance25822983958229839Human1name
151773286CV1427772single nucleotide variantNM_018062.4(FANCL):c.208G>A (p.Val70Ile)Fanconi anemia [RCV001915188]uncertain significance25822982258229822Human1name
151823239CV1466255single nucleotide variantNM_018062.4(FANCL):c.136T>A (p.Leu46Ile)Fanconi anemia [RCV001879419]uncertain significance25823207358232073Human1name
151735410CV1494295single nucleotide variantNM_018062.4(FANCL):c.295C>A (p.Gln99Lys)Fanconi anemia [RCV001984649]uncertain significance25822202158222021Human1name
152142515CV1636442single nucleotide variantNM_018062.4(FANCL):c.1033C>T (p.Leu345=)Fanconi anemia [RCV002120571]likely benign25816016758160167Human1name
155266546CV1699115single nucleotide variantNM_018062.4(FANCL):c.223C>T (p.Gln75Ter)Fanconi anemia [RCV002282910]|Fanconi anemia complementation group L [RCV003464431]pathogenic|likely pathogenic25822677858226778Human2name
156390960CV1869930single nucleotide variantNM_018062.4(FANCL):c.1080A>G (p.Pro360=)Fanconi anemia [RCV003068014]likely benign25816012058160120Human1name
156296786CV1923311deletionNM_018062.4(FANCL):c.659del (p.Pro220fs)Fanconi anemia [RCV002647442]pathogenic25816575658165756Human1name
156295156CV1926725single nucleotide variantNM_018062.4(FANCL):c.200A>G (p.His67Arg)Fanconi anemia [RCV002628980]uncertain significance25822983058229830Human1name
156379682CV1927433single nucleotide variantNM_018062.4(FANCL):c.233C>G (p.Pro78Arg)Fanconi anemia [RCV002634170]uncertain significance25822676858226768Human1name
156310955CV1934244single nucleotide variantNM_018062.4(FANCL):c.244A>C (p.Ser82Arg)Fanconi anemia [RCV002629765]uncertain significance25822675758226757Human1name
156095313CV2010553single nucleotide variantNM_018062.4(FANCL):c.181A>G (p.Thr61Ala)Fanconi anemia [RCV002695094]uncertain significance25822984958229849Human1name
156371744CV2048465deletionNM_018062.4(FANCL):c.320del (p.Pro107fs)Fanconi anemia [RCV002814331]pathogenic25822199658221996Human1name
10404683CV205672deletionNM_018062.4(FANCL):c.430del (p.Ser144fs)Fanconi anemia [RCV001857678]|Fanconi anemia complementation group L [RCV000191023]|VACTERL association, X-linked, with or without hydrocephalus [RCV001195065]|not provided [RCV001530171]pathogenic|likely pathogenic25820417158204171Human3name
156025853CV2112527single nucleotide variantNM_018062.4(FANCL):c.252G>A (p.Met84Ile)Fanconi anemia [RCV002909834]uncertain significance25822674958226749Human1name
156210294CV2114380single nucleotide variantNM_018062.4(FANCL):c.259T>A (p.Leu87Met)Fanconi anemia [RCV002932034]uncertain significance25822674258226742Human1name
155960487CV2138329single nucleotide variantNM_018062.4(FANCL):c.121G>A (p.Val41Met)Fanconi anemia [RCV002972360]uncertain significance25823208858232088Human1name
156190276CV2160808single nucleotide variantNM_018062.4(FANCL):c.163T>A (p.Cys55Ser)Fanconi anemia [RCV003024107]uncertain significance25822986758229867Human1name
156211043CV2170849single nucleotide variantNM_018062.4(FANCL):c.159A>C (p.Leu53Phe)Fanconi anemia [RCV003042332]uncertain significance25822987158229871Human1name
10767933CV221315single nucleotide variantNM_018062.4(FANCL):c.1077T>C (p.Cys359=)Fanconi anemia [RCV000205562]|Fanconi anemia complementation group L [RCV001139586]|not provided [RCV001574127]benign|likely benign25816012358160123Human2name
10768358CV221319single nucleotide variantNM_018062.4(FANCL):c.112C>T (p.Leu38Phe)FANCL-related disorder [RCV003937791]|Fanconi anemia [RCV001082870]|Fanconi anemia complementation group L [RCV001137465]|not provided [RCV000515051]|not specified [RCV000420428]benign|likely benign|conflicting interpretations of pathogenicity25823209758232097Human2name , trait , alternate_id
401927330CV2796948duplicationNM_018062.4(FANCL):c.809dup (p.Asn270fs)FANCL-related disorder [RCV003406179]likely pathogenic25816304058163041Humanname , trait , alternate_id
401941238CV2835784duplicationNM_018062.4(FANCL):c.738dup (p.Met247fs)Fanconi anemia complementation group L [RCV003461554]likely pathogenic25816347058163471Human1name
401941239CV2835785deletionNM_018062.4(FANCL):c.590del (p.Leu197fs)Fanconi anemia complementation group L [RCV003461555]likely pathogenic25816582558165825Human1name
401942587CV2835786single nucleotide variantNM_018062.4(FANCL):c.158T>G (p.Leu53Ter)Fanconi anemia complementation group L [RCV003468185]likely pathogenic25822987258229872Human1name
405072759CV2865907deletionNM_018062.4(FANCL):c.472del (p.Tyr158fs)Fanconi anemia [RCV003523967]pathogenic25819866258198662Human1name
405076367CV2874248single nucleotide variantNM_018062.4(FANCL):c.105C>A (p.Asp35Glu)Fanconi anemia [RCV003524185]uncertain significance25823210458232104Human1name
405065876CV2899675single nucleotide variantNM_018062.4(FANCL):c.1014A>G (p.Leu338=)Fanconi anemia [RCV003523490]likely benign25816152858161528Human1name
405059637CV2923874single nucleotide variantNM_018062.4(FANCL):c.287A>G (p.Lys96Arg)Fanconi anemia [RCV003522833]uncertain significance25822202958222029Human1name
405058188CV2926196single nucleotide variantNM_018062.4(FANCL):c.229T>C (p.Ser77Pro)Fanconi anemia [RCV003522640]uncertain significance25822677258226772Human1name
405163770CV3004421deletionNM_018062.4(FANCL):c.682del (p.Ile228fs)Fanconi anemia [RCV003637863]pathogenic25816573358165733Human1name
405148065CV3059851deletionNM_018062.4(FANCL):c.378del (p.Val127fs)Fanconi anemia [RCV003636561]|Fanconi anemia complementation group L [RCV004573265]pathogenic|likely pathogenic25820422358204223Human2name
405151754CV3073348single nucleotide variantNM_018062.4(FANCL):c.1017T>C (p.Tyr339=)Fanconi anemia [RCV003636881]likely benign25816152558161525Human1name
405158923CV3076463single nucleotide variantNM_018062.4(FANCL):c.136T>G (p.Leu46Val)Fanconi anemia [RCV003637453]uncertain significance25823207358232073Human1name
405868761CV3400592deletionNM_018062.4(FANCL):c.442del (p.His148fs)Fanconi anemia complementation group L [RCV004576595]likely pathogenic25820415958204159Human1name
596945920CV3550297duplicationNM_018062.4(FANCL):c.900dup (p.Ser301fs)Fanconi anemia complementation group L [RCV004818836]likely pathogenic25816286858162869Human1name
597661910CV3671925single nucleotide variantNM_018062.4(FANCL):c.225G>T (p.Gln75His)Inborn genetic diseases [RCV004977681]uncertain significance25822677658226776Human1name
597649257CV3713559deletionNM_018062.4(FANCL):c.901del (p.Ser301fs)Fanconi anemia complementation group L [RCV005026653]likely pathogenic25816286858162868Human1name
597649349CV3713577single nucleotide variantNM_018062.4(FANCL):c.284T>A (p.Leu95Ter)Fanconi anemia complementation group L [RCV005026664]likely pathogenic25822203258222032Human1name
597689437CV3713580single nucleotide variantNM_018062.4(FANCL):c.139C>T (p.Gln47Ter)Fanconi anemia complementation group L [RCV005032367]likely pathogenic25823207058232070Human1name
597689449CV3713581single nucleotide variantNM_018062.4(FANCL):c.119T>A (p.Ile40Lys)Fanconi anemia complementation group L [RCV005032368]uncertain significance25823209058232090Human1name
597927496CV3749021single nucleotide variantNM_018062.4(FANCL):c.1101C>T (p.Thr367=)Fanconi anemia [RCV005075477]likely benign25815979258159792Human1name
597959582CV3797585single nucleotide variantNM_018062.4(FANCL):c.104A>G (p.Asp35Gly)Fanconi anemia [RCV005138272]uncertain significance25823210558232105Human1name
597835673CV3828268single nucleotide variantNM_018062.4(FANCL):c.1041T>C (p.Thr347=)Fanconi anemia [RCV005171160]likely benign25816015958160159Human1name
597888785CV3859557single nucleotide variantNM_018062.4(FANCL):c.193G>A (p.Gly65Arg)Fanconi anemia [RCV005200213]uncertain significance25822983758229837Human1name
12883097CV393059single nucleotide variantNM_018062.4(FANCL):c.288G>T (p.Lys96Asn)Fanconi anemia [RCV000460926]|Fanconi anemia complementation group L [RCV002506121]uncertain significance25822202858222028Human2name
12886713CV393060single nucleotide variantNM_018062.4(FANCL):c.238C>G (p.Leu80Val)Fanconi anemia [RCV000467748]|Fanconi anemia complementation group L [RCV001137463]|See cases [RCV002252132]|not specified [RCV001821269]uncertain significance25822676358226763Human2name
12883321CV393432single nucleotide variantNM_018062.4(FANCL):c.108C>G (p.Phe36Leu)FANCL-related disorder [RCV003970326]|Fanconi anemia [RCV000461386]|Fanconi anemia complementation group L [RCV001137466]|not provided [RCV003409644]|not specified [RCV000503224]benign|likely benign25823210158232101Human2name , trait , alternate_id
598195587CV3955193single nucleotide variantNM_018062.4(FANCL):c.222G>A (p.Met74Ile)Inborn genetic diseases [RCV005335605]uncertain significance25822677958226779Human1name
13216757CV428081single nucleotide variantNM_018062.4(FANCL):c.235G>A (p.Asp79Asn)not specified [RCV000504156]uncertain significance25822676658226766Humanname
13446221CV438138single nucleotide variantNM_018062.4(FANCL):c.245G>A (p.Ser82Asn)not provided [RCV000513436]uncertain significance25822675658226756Humanname
13484396CV451729single nucleotide variantNM_018062.4(FANCL):c.203G>C (p.Arg68Pro)FANCL-related disorder [RCV003925582]|Fanconi anemia [RCV000552744]|Fanconi anemia complementation group L [RCV001137464]|not specified [RCV001821482]likely benign|conflicting interpretations of pathogenicity|uncertain significance25822982758229827Human2name , trait , alternate_id
13464948CV451731single nucleotide variantNM_018062.4(FANCL):c.142C>G (p.Leu48Val)FANCL-related disorder [RCV004752936]|Fanconi anemia [RCV000542534]|Fanconi anemia complementation group L [RCV002483357]uncertain significance25823206758232067Human2name , trait , alternate_id
13612792CV518505single nucleotide variantNM_018062.4(FANCL):c.211C>T (p.Gln71Ter)Fanconi anemia [RCV000630868]pathogenic25822981958229819Human1name
13613048CV518579single nucleotide variantNM_018062.4(FANCL):c.182C>G (p.Thr61Arg)Fanconi anemia [RCV000630949]uncertain significance25822984858229848Human1name
14735920CV630404single nucleotide variantNM_018062.4(FANCL):c.246C>G (p.Ser82Arg)Fanconi anemia [RCV000803392]|Fanconi anemia complementation group L [RCV002477841]uncertain significance25822675558226755Human2name
14726770CV630405single nucleotide variantNM_018062.4(FANCL):c.134A>T (p.Asp45Val)Fanconi anemia [RCV000815780]uncertain significance25823207558232075Human1name
21405324CV799094duplicationNM_018062.4(FANCL):c.739dup (p.Met247fs)Fanconi anemia complementation group L [RCV001000102]|not provided [RCV001195066]pathogenic|likely pathogenic25816346958163470Human1name
34889448CV918140single nucleotide variantNM_018062.4(FANCL):c.1092G>A (p.Lys364=)Fanconi anemia [RCV001381353]|Fanconi anemia complementation group L [RCV001195068]pathogenic25816010858160108Human2name
38491340CV922889single nucleotide variantNM_018062.4(FANCL):c.267G>T (p.Met89Ile)Fanconi anemia [RCV001222772]uncertain significance25822673458226734Human1name
38476505CV943053single nucleotide variantNM_018062.4(FANCL):c.226C>T (p.His76Tyr)Fanconi anemia [RCV001233113]uncertain significance25822677558226775Human1name
126735992CV1019673single nucleotide variantNM_018062.4(FANCL):c.992A>C (p.Gln331Pro)Fanconi anemia complementation group L [RCV001334976]uncertain significance25816155058161550Human1name
126751273CV1024648single nucleotide variantNM_018062.4(FANCL):c.902C>G (p.Ser301Cys)Fanconi anemia [RCV001352407]|Fanconi anemia complementation group L [RCV005038114]uncertain significance25816286758162867Human2name
126753053CV1024649single nucleotide variantNM_018062.4(FANCL):c.842T>C (p.Leu281Ser)Fanconi anemia [RCV001338533]|Fanconi anemia complementation group L [RCV002486353]uncertain significance25816292758162927Human2name
126763668CV1024651single nucleotide variantNM_018062.4(FANCL):c.608T>C (p.Val203Ala)Fanconi anemia [RCV001341368]uncertain significance25816580758165807Human1name
126764971CV1024652single nucleotide variantNM_018062.4(FANCL):c.556A>G (p.Ile186Val)Fanconi anemia [RCV001341856]|Fanconi anemia complementation group L [RCV005023064]uncertain significance25816585958165859Human2name
126770462CV1024653single nucleotide variantNM_018062.4(FANCL):c.500T>C (p.Val167Ala)Fanconi anemia [RCV001344488]|Fanconi anemia complementation group L [RCV001831107]uncertain significance25819863458198634Human2name
126770261CV1024654single nucleotide variantNM_018062.4(FANCL):c.408C>G (p.Ile136Met)Fanconi anemia [RCV001344377]uncertain significance25820419358204193Human1name
126761467CV1024655single nucleotide variantNM_018062.4(FANCL):c.317C>T (p.Pro106Leu)Fanconi anemia [RCV001340698]uncertain significance25822199958221999Human1name
126914048CV1041621single nucleotide variantNM_018062.4(FANCL):c.339C>A (p.Ser113Arg)Fanconi anemia [RCV001370331]uncertain significance25822197758221977Human1name
150473800CV1272230deletionNM_018062.4(FANCL):c.375-2103_375-2100delnot provided [RCV001695768]benign25820632658206329Humanname
150543582CV1309576single nucleotide variantNM_018062.4(FANCL):c.641T>C (p.Leu214Pro)Fanconi anemia complementation group L [RCV003388043]|not provided [RCV003238622]likely benign|uncertain significance25816577458165774Human1name
150543584CV1309577single nucleotide variantNM_018062.4(FANCL):c.565C>T (p.Gln189Ter)Fanconi anemia [RCV003635972]|not provided [RCV003238623]pathogenic25816585058165850Human1name
151232509CV1316815single nucleotide variantNM_018062.4(FANCL):c.554G>C (p.Ser185Thr)Fanconi anemia [RCV001868880]|not provided [RCV001786635]uncertain significance25816586158165861Human1name
151354793CV1327860single nucleotide variantNM_018062.4(FANCL):c.392C>T (p.Thr131Ile)Fanconi anemia [RCV001869685]|Fanconi anemia complementation group L [RCV002489874]|not specified [RCV001819335]uncertain significance25820420958204209Human2name
151356039CV1328803single nucleotide variantNM_018062.4(FANCL):c.824A>T (p.Asp275Val)not specified [RCV001822392]uncertain significance25816294558162945Humanname
151841195CV1342340single nucleotide variantNM_018062.4(FANCL):c.911C>T (p.Thr304Ile)Fanconi anemia [RCV001956769]uncertain significance25816163158161631Human1name
151760049CV1343158single nucleotide variantNM_018062.4(FANCL):c.742C>T (p.Leu248Phe)Fanconi anemia [RCV002024254]|Fanconi anemia complementation group L [RCV005032127]uncertain significance25816346758163467Human2name
151761537CV1349758single nucleotide variantNM_018062.4(FANCL):c.671C>A (p.Thr224Lys)Fanconi anemia [RCV001949201]uncertain significance25816574458165744Human1name
151709876CV1361068single nucleotide variantNM_018062.4(FANCL):c.754T>C (p.Phe252Leu)Fanconi anemia [RCV001889144]uncertain significance25816345558163455Human1name
151886016CV1367193single nucleotide variantNM_018062.4(FANCL):c.814C>G (p.His272Asp)Fanconi anemia [RCV002000600]uncertain significance25816303658163036Human1name
151747977CV1367479single nucleotide variantNM_018062.4(FANCL):c.386C>T (p.Ala129Val)Fanconi anemia [RCV001894012]uncertain significance25820421558204215Human1name
151747575CV1371567single nucleotide variantNM_018062.4(FANCL):c.608T>G (p.Val203Gly)Fanconi anemia [RCV001947776]uncertain significance25816580758165807Human1name
151852545CV1376094single nucleotide variantNM_018062.4(FANCL):c.883C>T (p.Arg295Cys)Fanconi anemia [RCV001996149]uncertain significance25816288658162886Human1name
151875572CV1376201single nucleotide variantNM_018062.4(FANCL):c.923G>A (p.Gly308Glu)Fanconi anemia [RCV002019494]uncertain significance25816161958161619Human1name
151802626CV1378964single nucleotide variantNM_018062.4(FANCL):c.494A>G (p.Tyr165Cys)Fanconi anemia [RCV001877510]uncertain significance25819864058198640Human1name
151776621CV1381648single nucleotide variantNM_018062.4(FANCL):c.611T>C (p.Met204Thr)Fanconi anemia [RCV001950672]|Fanconi anemia complementation group L [RCV002484716]uncertain significance25816580458165804Human2name
151667704CV1385008single nucleotide variantNM_018062.4(FANCL):c.934G>T (p.Ala312Ser)Fanconi anemia [RCV001982653]uncertain significance25816160858161608Human1name
151737079CV1388075single nucleotide variantNM_018062.4(FANCL):c.737C>T (p.Thr246Ile)Fanconi anemia [RCV002005422]uncertain significance25816347258163472Human1name
151745420CV1401042single nucleotide variantNM_018062.4(FANCL):c.810C>A (p.Asn270Lys)Fanconi anemia [RCV002022763]uncertain significance25816304058163040Human1name
151780165CV1408418single nucleotide variantNM_018062.4(FANCL):c.428C>G (p.Ala143Gly)Fanconi anemia [RCV001915802]uncertain significance25820417358204173Human1name
151834962CV1408526single nucleotide variantNM_018062.4(FANCL):c.845A>G (p.Gln282Arg)Fanconi anemia [RCV001935451]|Fanconi anemia complementation group L [RCV002507016]uncertain significance25816292458162924Human2name
151822789CV1415067single nucleotide variantNM_018062.4(FANCL):c.703T>C (p.Ser235Pro)Fanconi anemia [RCV001954927]|Inborn genetic diseases [RCV003264279]uncertain significance25816350658163506Human2name
151873666CV1429880single nucleotide variantNM_018062.4(FANCL):c.719T>C (p.Val240Ala)Fanconi anemia [RCV001998668]uncertain significance25816349058163490Human1name
151750611CV1430487single nucleotide variantNM_018062.4(FANCL):c.598T>A (p.Phe200Ile)Fanconi anemia [RCV002006826]uncertain significance25816581758165817Human1name
151846980CV1439582single nucleotide variantNM_018062.4(FANCL):c.550A>G (p.Ile184Val)Fanconi anemia [RCV002016054]uncertain significance25816586558165865Human1name
151726737CV1445734single nucleotide variantNM_018062.4(FANCL):c.365G>T (p.Gly122Val)Fanconi anemia [RCV002040776]uncertain significance25822195158221951Human1name
151770620CV1464983single nucleotide variantNM_018062.4(FANCL):c.760C>T (p.Leu254Phe)Fanconi anemia [RCV002025322]uncertain significance25816344958163449Human1name
151736132CV1465944single nucleotide variantNM_018062.4(FANCL):c.967G>A (p.Val323Met)Fanconi anemia [RCV002041734]uncertain significance25816157558161575Human1name
151791606CV1486250single nucleotide variantNM_018062.4(FANCL):c.971G>C (p.Cys324Ser)Fanconi anemia [RCV002047163]uncertain significance25816157158161571Human1name
151730739CV1489566single nucleotide variantNM_018062.4(FANCL):c.763G>A (p.Gly255Arg)Fanconi anemia [RCV001910845]uncertain significance25816344658163446Human1name
151867513CV1493619single nucleotide variantNM_018062.4(FANCL):c.308C>A (p.Ala103Glu)Fanconi anemia [RCV001960007]|Fanconi anemia complementation group L [RCV002484643]uncertain significance25822200858222008Human2name
151881663CV1500050single nucleotide variantNM_018062.4(FANCL):c.913A>T (p.Met305Leu)Fanconi anemia [RCV001886580]|Fanconi anemia complementation group L [RCV002503471]|not provided [RCV004693858]uncertain significance25816162958161629Human2name
151720813CV1504396single nucleotide variantNM_018062.4(FANCL):c.933T>A (p.Tyr311Ter)Fanconi anemia [RCV001983048]pathogenic25816160958161609Human1name
151743378CV1507563single nucleotide variantNM_018062.4(FANCL):c.662G>T (p.Arg221Leu)Fanconi anemia [RCV001968368]uncertain significance25816575358165753Human1name
151753393CV1508667single nucleotide variantNM_018062.4(FANCL):c.372T>A (p.Asp124Glu)Fanconi anemia [RCV001986520]uncertain significance25822194458221944Human1name
151788098CV1510167single nucleotide variantNM_018062.4(FANCL):c.308C>T (p.Ala103Val)Fanconi anemia [RCV001916541]uncertain significance25822200858222008Human1name
151860940CV1511056single nucleotide variantNM_018062.4(FANCL):c.430T>A (p.Ser144Thr)Fanconi anemia [RCV001959217]uncertain significance25820417158204171Human1name
151790106CV1512817single nucleotide variantNM_018062.4(FANCL):c.428C>T (p.Ala143Val)Fanconi anemia [RCV001876431]|Fanconi anemia complementation group L [RCV002506886]|Inborn genetic diseases [RCV003247055]uncertain significance25820417358204173Human3name
151785669CV1513433single nucleotide variantNM_018062.4(FANCL):c.350A>C (p.Glu117Ala)Fanconi anemia [RCV001916293]uncertain significance25822196658221966Human1name
151889785CV1516403single nucleotide variantNM_018062.4(FANCL):c.354A>G (p.Ile118Met)Fanconi anemia [RCV002038670]uncertain significance25822196258221962Human1name
151811486CV1516875single nucleotide variantNM_018062.4(FANCL):c.578C>T (p.Ala193Val)Fanconi anemia [RCV002012481]uncertain significance25816583758165837Human1name
153002432CV1684330single nucleotide variantNM_018062.4(FANCL):c.478G>A (p.Ala160Thr)Fanconi anemia [RCV002259174]uncertain significance25819865658198656Human1name
153001507CV1684332single nucleotide variantNM_018062.4(FANCL):c.637G>C (p.Val213Leu)Fanconi anemia [RCV002256969]|Inborn genetic diseases [RCV003101400]uncertain significance25816577858165778Human2name
153001078CV1684333single nucleotide variantNM_018062.4(FANCL):c.640C>T (p.Leu214Phe)Fanconi anemia [RCV002255791]|Fanconi anemia complementation group L [RCV002502062]uncertain significance25816577558165775Human2name
155749008CV1779060single nucleotide variantNM_018062.4(FANCL):c.677G>T (p.Arg226Leu)Fanconi anemia [RCV002304158]uncertain significance25816573858165738Human1name
156321088CV1873112single nucleotide variantNM_018062.4(FANCL):c.614A>G (p.Asp205Gly)Fanconi anemia [RCV003063070]uncertain significance25816580158165801Human1name
156411027CV1892858single nucleotide variantNM_018062.4(FANCL):c.439G>A (p.Glu147Lys)Fanconi anemia [RCV003072304]uncertain significance25820416258204162Human1name
156405407CV1893817single nucleotide variantNM_018062.4(FANCL):c.361C>T (p.Leu121Phe)Fanconi anemia [RCV003070013]uncertain significance25822195558221955Human1name
156317755CV1897587single nucleotide variantNM_018062.4(FANCL):c.676C>T (p.Arg226Cys)Fanconi anemia [RCV002579050]uncertain significance25816573958165739Human1name
156413877CV1901130single nucleotide variantNM_018062.4(FANCL):c.984G>T (p.Gln328His)Fanconi anemia [RCV002588305]uncertain significance25816155858161558Human1name
156076135CV1912405single nucleotide variantNM_018062.4(FANCL):c.914T>C (p.Met305Thr)Fanconi anemia [RCV002591424]uncertain significance25816162858161628Human1name
156446158CV1951192single nucleotide variantNM_018062.4(FANCL):c.369G>A (p.Trp123Ter)Fanconi anemia [RCV003117124]pathogenic25822194758221947Human1name
156145905CV1954275single nucleotide variantNM_018062.4(FANCL):c.680G>C (p.Arg227Thr)Fanconi anemia [RCV002572739]|Fanconi anemia complementation group L [RCV005032308]|Inborn genetic diseases [RCV005343425]uncertain significance25816573558165735Human3name
156024001CV2025587single nucleotide variantNM_018062.4(FANCL):c.476C>T (p.Pro159Leu)Fanconi anemia [RCV002735508]|Fanconi anemia complementation group L [RCV005027933]uncertain significance25819865858198658Human2name
156348194CV2052050single nucleotide variantNM_018062.4(FANCL):c.750G>C (p.Glu250Asp)Fanconi anemia [RCV002811586]uncertain significance25816345958163459Human1name
156075975CV2053375single nucleotide variantNM_018062.4(FANCL):c.454C>T (p.Leu152Phe)Fanconi anemia [RCV002823698]uncertain significance25820414758204147Human1name
155941824CV2068248single nucleotide variantNM_018062.4(FANCL):c.869T>C (p.Ile290Thr)Fanconi anemia [RCV002839460]uncertain significance25816290058162900Human1name
156058004CV2102160single nucleotide variantNM_018062.4(FANCL):c.659C>T (p.Pro220Leu)Fanconi anemia [RCV002886400]uncertain significance25816575658165756Human1name
156167535CV2102307single nucleotide variantNM_018062.4(FANCL):c.902C>A (p.Ser301Tyr)Fanconi anemia [RCV002891222]uncertain significance25816286758162867Human1name
10405659CV212271single nucleotide variantNM_018062.4(FANCL):c.884G>A (p.Arg295His)Fanconi anemia [RCV000196730]|Fanconi anemia complementation group L [RCV002492918]uncertain significance25816288558162885Human2name
156123946CV2124797single nucleotide variantNM_018062.4(FANCL):c.526T>G (p.Ser176Ala)Fanconi anemia [RCV002953609]uncertain significance25819860858198608Human1name
156270106CV2135263single nucleotide variantNM_018062.4(FANCL):c.614A>C (p.Asp205Ala)Fanconi anemia [RCV002988791]|Inborn genetic diseases [RCV005343563]uncertain significance25816580158165801Human2name
156032876CV2156559single nucleotide variantNM_018062.4(FANCL):c.908T>G (p.Phe303Cys)Fanconi anemia [RCV003018748]uncertain significance25816163458161634Human1name
156204963CV2160044duplicationNM_018062.4(FANCL):c.1049dup (p.Ser351fs)Fanconi anemia [RCV003042113]likely pathogenic25816015058160151Human1name
156342880CV2176030single nucleotide variantNM_018062.4(FANCL):c.803G>A (p.Ser268Asn)Fanconi anemia [RCV003030381]uncertain significance25816304758163047Human1name
10767709CV221316single nucleotide variantNM_018062.4(FANCL):c.755T>G (p.Phe252Cys)FANCL-related disorder [RCV003937785]|Fanconi anemia [RCV000205182]|Fanconi anemia complementation group L [RCV001094694]|not specified [RCV000504132]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance25816345458163454Human2name , trait , alternate_id
10768035CV221317single nucleotide variantNM_018062.4(FANCL):c.706A>G (p.Ile236Val)Fanconi anemia [RCV000205732]|Fanconi anemia complementation group L [RCV002485339]|Inborn genetic diseases [RCV004020509]uncertain significance25816350358163503Human3name
156182510CV2243064single nucleotide variantNM_018062.4(FANCL):c.731A>G (p.His244Arg)Inborn genetic diseases [RCV002802366]uncertain significance25816347858163478Human1name
156299560CV2244769single nucleotide variantNM_018062.4(FANCL):c.473A>G (p.Tyr158Cys)Inborn genetic diseases [RCV002748422]uncertain significance25819866158198661Human1name
156118532CV2279064single nucleotide variantNM_018062.4(FANCL):c.867A>C (p.Glu289Asp)Inborn genetic diseases [RCV002848907]uncertain significance25816290258162902Human1name
155956597CV2304054single nucleotide variantNM_018062.4(FANCL):c.700G>C (p.Val234Leu)Inborn genetic diseases [RCV002905619]uncertain significance25816350958163509Human1name
155969389CV2309064single nucleotide variantNM_018062.4(FANCL):c.950G>T (p.Gly317Val)Inborn genetic diseases [RCV002906786]uncertain significance25816159258161592Human1name
156123242CV2350005single nucleotide variantNM_018062.4(FANCL):c.980C>T (p.Ser327Phe)Fanconi anemia complementation group L [RCV005036607]|Inborn genetic diseases [RCV002981368]uncertain significance25816156258161562Human2name
11350059CV238965single nucleotide variantNM_018062.4(FANCL):c.963T>A (p.Asp321Glu)FANCL-related disorder [RCV003955361]|Fanconi anemia [RCV000233098]|Fanconi anemia complementation group L [RCV003316291]|not specified [RCV001820756]benign|likely benign|uncertain significance25816157958161579Human2name , trait , alternate_id
11349103CV238966single nucleotide variantNM_018062.4(FANCL):c.670A>G (p.Thr224Ala)Fanconi anemia [RCV000229244]|Fanconi anemia complementation group L [RCV001094732]|not provided [RCV000515081]|not specified [RCV000502532]benign|likely benign|conflicting interpretations of pathogenicity25816574558165745Human2name
243058932CV2410007single nucleotide variantNM_018062.4(FANCL):c.730C>T (p.His244Tyr)Fanconi anemia complementation group L [RCV003147181]uncertain significance25816347958163479Human1name
401926947CV2796787single nucleotide variantNM_018062.4(FANCL):c.451A>C (p.Thr151Pro)FANCL-related disorder [RCV003406110]uncertain significance25820415058204150Humanname , trait , alternate_id
401912039CV2815815deletionNM_018062.4(FANCL):c.1108del (p.Met370fs)not provided [RCV003426979]uncertain significance25815978558159785Humanname
401941235CV2835781single nucleotide variantNM_018062.4(FANCL):c.822G>A (p.Trp274Ter)Fanconi anemia [RCV003636035]|Fanconi anemia complementation group L [RCV003461551]pathogenic|likely pathogenic25816294758162947Human2name
401941241CV2835788single nucleotide variantNM_018062.4(FANCL):c.335C>G (p.Ser112Ter)Fanconi anemia complementation group L [RCV003461557]likely pathogenic25822198158221981Human1name
401941242CV2835789single nucleotide variantNM_018062.4(FANCL):c.964C>T (p.Gln322Ter)Fanconi anemia complementation group L [RCV003461558]likely pathogenic25816157858161578Human1name
401941243CV2835790duplicationNM_018062.4(FANCL):c.1029dup (p.Gly344fs)Fanconi anemia [RCV005100166]|Fanconi anemia complementation group L [RCV003461559]pathogenic|likely pathogenic25816017058160171Human2name
401942599CV2835793deletionNM_018062.4(FANCL):c.1007del (p.Ile336fs)Fanconi anemia complementation group L [RCV003468188]likely pathogenic25816153558161535Human1name
401942607CV2835800single nucleotide variantNM_018062.4(FANCL):c.636G>A (p.Trp212Ter)Fanconi anemia [RCV003636038]|Fanconi anemia complementation group L [RCV003468190]pathogenic|likely pathogenic25816577958165779Human2name
405074613CV2863066single nucleotide variantNM_018062.4(FANCL):c.965A>G (p.Gln322Arg)Fanconi anemia [RCV003524071]uncertain significance25816157758161577Human1name
405078568CV2868684single nucleotide variantNM_018062.4(FANCL):c.626A>G (p.Glu209Gly)Fanconi anemia [RCV003524363]uncertain significance25816578958165789Human1name
11635715CV287622duplicationNM_018062.4(FANCL):c.932dup (p.Tyr311Ter)Fanconi anemia [RCV003635910]|Fanconi anemia complementation group L [RCV000387483]|not provided [RCV004721335]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance25816160958161610Human2name
405051549CV2879777single nucleotide variantNM_018062.4(FANCL):c.933T>G (p.Tyr311Ter)Fanconi anemia [RCV003522183]|Fanconi anemia complementation group L [RCV004574072]pathogenic|likely pathogenic25816160958161609Human2name
404991212CV2883404single nucleotide variantNM_018062.4(FANCL):c.940C>T (p.Gln314Ter)Fanconi anemia [RCV003525080]pathogenic25816160258161602Human1name
405067166CV2896318single nucleotide variantNM_018062.4(FANCL):c.563G>C (p.Ser188Thr)Fanconi anemia [RCV003523582]uncertain significance25816585258165852Human1name
405069797CV2903940single nucleotide variantNM_018062.4(FANCL):c.384T>G (p.Tyr128Ter)Fanconi anemia [RCV003523738]pathogenic25820421758204217Human1name
404988333CV2911306single nucleotide variantNM_018062.4(FANCL):c.953C>T (p.Thr318Ile)Fanconi anemia [RCV003524781]uncertain significance25816158958161589Human1name
405079134CV2913163single nucleotide variantNM_018062.4(FANCL):c.862T>A (p.Leu288Ile)Fanconi anemia [RCV003524409]uncertain significance25816290758162907Human1name
405152749CV2967265single nucleotide variantNM_018062.4(FANCL):c.955A>C (p.Ile319Leu)Fanconi anemia [RCV003636956]uncertain significance25816158758161587Human1name
405154105CV2972561single nucleotide variantNM_018062.4(FANCL):c.385G>T (p.Ala129Ser)Fanconi anemia [RCV003637062]uncertain significance25820421658204216Human1name
405156239CV2985465single nucleotide variantNM_018062.4(FANCL):c.842T>G (p.Leu281Ter)Fanconi anemia [RCV003637234]pathogenic25816292758162927Human1name
405164220CV3008577single nucleotide variantNM_018062.4(FANCL):c.548T>A (p.Leu183Ter)Fanconi anemia [RCV003637901]pathogenic25816586758165867Human1name
405138709CV3034778single nucleotide variantNM_018062.4(FANCL):c.325C>T (p.Gln109Ter)Fanconi anemia [RCV003635618]pathogenic25822199158221991Human1name
405146736CV3048134single nucleotide variantNM_018062.4(FANCL):c.974A>T (p.Asp325Val)Fanconi anemia [RCV003636440]uncertain significance25816156858161568Human1name
405150150CV3069374single nucleotide variantNM_018062.4(FANCL):c.612G>A (p.Met204Ile)Fanconi anemia [RCV003636746]uncertain significance25816580358165803Human1name
405160106CV3071851single nucleotide variantNM_018062.4(FANCL):c.594G>C (p.Lys198Asn)Fanconi anemia [RCV003637547]|Fanconi anemia complementation group L [RCV005038501]|Inborn genetic diseases [RCV004621891]uncertain significance25816582158165821Human3name
405159633CV3079980single nucleotide variantNM_018062.4(FANCL):c.736A>G (p.Thr246Ala)Fanconi anemia [RCV003637509]uncertain significance25816347358163473Human1name
405173441CV3151890single nucleotide variantNM_018062.4(FANCL):c.616G>T (p.Glu206Ter)Fanconi anemia [RCV003858041]pathogenic25816579958165799Human1name
405762497CV3253028single nucleotide variantNM_018062.4(FANCL):c.844C>G (p.Gln282Glu)Inborn genetic diseases [RCV004383744]uncertain significance25816292558162925Human1name
405762511CV3253030single nucleotide variantNM_018062.4(FANCL):c.964C>G (p.Gln322Glu)Inborn genetic diseases [RCV004383746]uncertain significance25816157858161578Human1name
405868765CV3400595duplicationNM_018062.4(FANCL):c.1064dup (p.Phe356fs)Fanconi anemia complementation group L [RCV004576598]likely pathogenic25816013558160136Human1name
407492473CV3432092single nucleotide variantNM_018062.4(FANCL):c.871G>A (p.Asp291Asn)Inborn genetic diseases [RCV004620790]uncertain significance25816289858162898Human1name
597661904CV3671924single nucleotide variantNM_018062.4(FANCL):c.433G>C (p.Gly145Arg)Inborn genetic diseases [RCV004977680]uncertain significance25820416858204168Human1name
597661898CV3675813single nucleotide variantNM_018062.4(FANCL):c.887C>G (p.Ala296Gly)Inborn genetic diseases [RCV004977679]uncertain significance25816288258162882Human1name
597649229CV3713556single nucleotide variantNM_018062.4(FANCL):c.992A>G (p.Gln331Arg)Fanconi anemia complementation group L [RCV005026650]uncertain significance25816155058161550Human1name
597649248CV3713557single nucleotide variantNM_018062.4(FANCL):c.956T>G (p.Ile319Ser)Fanconi anemia complementation group L [RCV005026652]uncertain significance25816158658161586Human1name
597649264CV3713560single nucleotide variantNM_018062.4(FANCL):c.901T>G (p.Ser301Ala)Fanconi anemia complementation group L [RCV005026654]uncertain significance25816286858162868Human1name
597742898CV3713561single nucleotide variantNM_018062.4(FANCL):c.787C>G (p.Leu263Val)Fanconi anemia complementation group L [RCV005038992]uncertain significance25816306358163063Human1name
597649273CV3713563single nucleotide variantNM_018062.4(FANCL):c.748G>A (p.Glu250Lys)Fanconi anemia complementation group L [RCV005026655]uncertain significance25816346158163461Human1name
597742912CV3713564single nucleotide variantNM_018062.4(FANCL):c.740T>C (p.Met247Thr)Fanconi anemia complementation group L [RCV005038994]uncertain significance25816346958163469Human1name
597649282CV3713565single nucleotide variantNM_018062.4(FANCL):c.703T>G (p.Ser235Ala)Fanconi anemia complementation group L [RCV005026656]uncertain significance25816350658163506Human1name
597649291CV3713566single nucleotide variantNM_018062.4(FANCL):c.582A>G (p.Ile194Met)Fanconi anemia complementation group L [RCV005026657]uncertain significance25816583358165833Human1name
597649300CV3713567single nucleotide variantNM_018062.4(FANCL):c.518T>A (p.Phe173Tyr)Fanconi anemia complementation group L [RCV005026658]uncertain significance25819861658198616Human1name
597649308CV3713568single nucleotide variantNM_018062.4(FANCL):c.491A>G (p.Asp164Gly)Fanconi anemia complementation group L [RCV005026659]uncertain significance25819864358198643Human1name
597742919CV3713570single nucleotide variantNM_018062.4(FANCL):c.437G>A (p.Arg146Lys)Fanconi anemia complementation group L [RCV005038995]uncertain significance25820416458204164Human1name
597649318CV3713571single nucleotide variantNM_018062.4(FANCL):c.380T>C (p.Val127Ala)Fanconi anemia complementation group L [RCV005026660]uncertain significance25820422158204221Human1name
597689416CV3713576single nucleotide variantNM_018062.4(FANCL):c.352A>G (p.Ile118Val)Fanconi anemia complementation group L [RCV005032365]uncertain significance25822196458221964Human1name
597942882CV3757888single nucleotide variantNM_018062.4(FANCL):c.542G>A (p.Ser181Asn)Fanconi anemia [RCV005077887]uncertain significance25816587358165873Human1name
597874082CV3775443duplicationNM_018062.4(FANCL):c.1046dup (p.Gln350fs)Fanconi anemia [RCV005123173]likely pathogenic25816015358160154Human1name
597975997CV3792755single nucleotide variantNM_018062.4(FANCL):c.574G>T (p.Ala192Ser)Fanconi anemia [RCV005144891]uncertain significance25816584158165841Human1name
597931899CV3837936single nucleotide variantNM_018062.4(FANCL):c.652A>G (p.Lys218Glu)Fanconi anemia [RCV005185905]uncertain significance25816576358165763Human1name
597945743CV3844937single nucleotide variantNM_018062.4(FANCL):c.527C>G (p.Ser176Cys)Fanconi anemia [RCV005188923]uncertain significance25819860758198607Human1name
597916379CV3845741single nucleotide variantNM_018062.4(FANCL):c.772C>T (p.His258Tyr)Fanconi anemia [RCV005183536]uncertain significance25816343758163437Human1name
597903820CV3846038single nucleotide variantNM_018062.4(FANCL):c.760C>G (p.Leu254Val)Fanconi anemia [RCV005181660]uncertain significance25816344958163449Human1name
597931034CV3862433single nucleotide variantNM_018062.4(FANCL):c.694A>G (p.Asn232Asp)Fanconi anemia [RCV005206678]uncertain significance25816351558163515Human1name
12892528CV393030single nucleotide variantNM_018062.4(FANCL):c.967G>T (p.Val323Leu)Fanconi anemia [RCV000474740]uncertain significance25816157558161575Human1name
12882613CV393050single nucleotide variantNM_018062.4(FANCL):c.344T>C (p.Ile115Thr)Fanconi anemia [RCV000460001]uncertain significance25822197258221972Human1name
12891547CV393421single nucleotide variantNM_018062.4(FANCL):c.949G>A (p.Gly317Ser)Fanconi anemia [RCV000476793]|Fanconi anemia complementation group L [RCV002480397]uncertain significance25816159358161593Human2name
598198845CV3955192single nucleotide variantNM_018062.4(FANCL):c.330C>G (p.Phe110Leu)Inborn genetic diseases [RCV005336370]uncertain significance25822198658221986Human1name
617149284CV4021494microsatelliteNM_018062.4(FANCL):c.692-1081_692-1079delnot provided [RCV005425463]benign25816459658164598Humanname
13214292CV428079single nucleotide variantNM_018062.4(FANCL):c.712A>G (p.Ile238Val)not specified [RCV000501081]uncertain significance25816349758163497Humanname
13486484CV451711single nucleotide variantNM_018062.4(FANCL):c.319C>G (p.Pro107Ala)Fanconi anemia [RCV000531284]uncertain significance25822199758221997Human1name
13613026CV518564single nucleotide variantNM_018062.4(FANCL):c.343A>G (p.Ile115Val)Fanconi anemia [RCV000630937]uncertain significance25822197358221973Human1name
13613028CV518565single nucleotide variantNM_018062.4(FANCL):c.332A>G (p.Tyr111Cys)Fanconi anemia [RCV000630938]|Fanconi anemia complementation group L [RCV005034206]uncertain significance25822198458221984Human2name
13612776CV518630single nucleotide variantNM_018062.4(FANCL):c.846A>T (p.Gln282His)Fanconi anemia [RCV000630859]|Inborn genetic diseases [RCV005338268]likely benign|uncertain significance25816292358162923Human2name
13612752CV518635single nucleotide variantNM_018062.4(FANCL):c.622G>A (p.Asp208Asn)Fanconi anemia [RCV000630848]|Fanconi anemia complementation group L [RCV001142205]|not provided [RCV005411508]uncertain significance25816579358165793Human2name
13816810CV558245single nucleotide variantNM_018062.4(FANCL):c.692G>A (p.Gly231Asp)Fanconi anemia [RCV000692574]|Fanconi anemia complementation group L [RCV002499235]|Inborn genetic diseases [RCV004025122]uncertain significance25816351758163517Human3name
13821549CV560871single nucleotide variantNM_018062.4(FANCL):c.881C>T (p.Ala294Val)Fanconi anemia [RCV000696050]|Fanconi anemia complementation group L [RCV002485689]uncertain significance25816288858162888Human2name
13815368CV561857single nucleotide variantNM_018062.4(FANCL):c.335C>T (p.Ser112Leu)Fanconi anemia [RCV000691544]|not provided [RCV004692115]uncertain significance25822198158221981Human1name
13831777CV582274duplicationNM_018062.4(FANCL):c.1076dup (p.Cys359fs)not provided [RCV000722459]uncertain significance25816012358160124Humanname
13832534CV583029single nucleotide variantNM_018062.4(FANCL):c.622G>T (p.Asp208Tyr)not provided [RCV000723225]uncertain significance25816579358165793Humanname
14396189CV611572single nucleotide variantNM_018062.4(FANCL):c.583G>T (p.Glu195Ter)not provided [RCV000760927]likely pathogenic25816583258165832Humanname
14719911CV630401single nucleotide variantNM_018062.4(FANCL):c.863T>C (p.Leu288Ser)Fanconi anemia [RCV000812808]uncertain significance25816290658162906Human1name
14736264CV630402single nucleotide variantNM_018062.4(FANCL):c.394T>C (p.Cys132Arg)Fanconi anemia [RCV000819949]uncertain significance25820420758204207Human1name
14709211CV630403single nucleotide variantNM_018062.4(FANCL):c.355G>A (p.Gly119Arg)Fanconi anemia [RCV000809267]|Fanconi anemia complementation group L [RCV005029491]uncertain significance25822196158221961Human2name
15147668CV686227single nucleotide variantNM_018062.4(FANCL):c.739A>G (p.Met247Val)FANCL-related disorder [RCV003975409]|Fanconi anemia [RCV000866504]benign25816347058163470Human2name , trait , alternate_id
21067053CV790285single nucleotide variantNM_018062.4(FANCL):c.778G>C (p.Val260Leu)Fanconi anemia complementation group A [RCV000986762]uncertain significance25816307258163072Human1name
26899523CV826851single nucleotide variantNM_018062.4(FANCL):c.767C>G (p.Ala256Gly)Fanconi anemia [RCV001070986]uncertain significance25816344258163442Human1name
26904908CV826852single nucleotide variantNM_018062.4(FANCL):c.662G>A (p.Arg221Gln)Fanconi anemia [RCV001051070]|Fanconi anemia complementation group L [RCV002489617]uncertain significance25816575358165753Human2name
26913029CV826853single nucleotide variantNM_018062.4(FANCL):c.661C>T (p.Arg221Trp)Fanconi anemia [RCV001039772]|Fanconi anemia complementation group L [RCV005029593]uncertain significance25816575458165754Human2name
26900601CV826854single nucleotide variantNM_018062.4(FANCL):c.649G>C (p.Glu217Gln)Fanconi anemia [RCV001071324]|Fanconi anemia complementation group L [RCV002480444]uncertain significance25816576658165766Human2name
26916373CV826855single nucleotide variantNM_018062.4(FANCL):c.580A>G (p.Ile194Val)Fanconi anemia [RCV001041926]|Fanconi anemia complementation group L [RCV002479267]uncertain significance25816583558165835Human2name
28893997CV885241single nucleotide variantNM_018062.4(FANCL):c.856G>T (p.Asp286Tyr)Fanconi anemia complementation group L [RCV001140349]uncertain significance25816291358162913Human1name
28894004CV885243single nucleotide variantNM_018062.4(FANCL):c.677G>A (p.Arg226His)Fanconi anemia [RCV001858916]|Fanconi anemia complementation group L [RCV001140352]uncertain significance25816573858165738Human2name
28899014CV885244single nucleotide variantNM_018062.4(FANCL):c.533C>A (p.Thr178Lys)Fanconi anemia [RCV002557026]|Fanconi anemia complementation group L [RCV001142207]uncertain significance25819860158198601Human2name
28899018CV885245single nucleotide variantNM_018062.4(FANCL):c.524C>T (p.Ala175Val)Fanconi anemia [RCV001366414]|Fanconi anemia complementation group L [RCV001142208]|Inborn genetic diseases [RCV004619523]likely benign|uncertain significance25819861058198610Human3name
28899020CV885246single nucleotide variantNM_018062.4(FANCL):c.493T>G (p.Tyr165Asp)Fanconi anemia [RCV001231830]|Fanconi anemia complementation group L [RCV001142209]uncertain significance25819864158198641Human2name
28899022CV885247single nucleotide variantNM_018062.4(FANCL):c.436A>G (p.Arg146Gly)Fanconi anemia complementation group L [RCV001142210]uncertain significance25820416558204165Human1name
38482550CV922886single nucleotide variantNM_018062.4(FANCL):c.650A>G (p.Glu217Gly)Fanconi anemia [RCV001218515]uncertain significance25816576558165765Human1name
38490505CV922887single nucleotide variantNM_018062.4(FANCL):c.472T>G (p.Tyr158Asp)Fanconi anemia [RCV001222186]uncertain significance25819866258198662Human1name
38476919CV922888single nucleotide variantNM_018062.4(FANCL):c.401G>T (p.Ser134Ile)Fanconi anemia [RCV001215886]|Fanconi anemia complementation group L [RCV002484176]uncertain significance25820420058204200Human2name
38470346CV931533single nucleotide variantNM_018062.4(FANCL):c.474T>A (p.Tyr158Ter)Fanconi anemia [RCV001202568]pathogenic25819866058198660Human1name
38471409CV943050single nucleotide variantNM_018062.4(FANCL):c.913A>G (p.Met305Val)Fanconi anemia [RCV001231212]|Fanconi anemia complementation group L [RCV005029799]|not specified [RCV001819931]uncertain significance25816162958161629Human2name
38457922CV943051single nucleotide variantNM_018062.4(FANCL):c.860T>G (p.Val287Gly)FANCL-related disorder [RCV003918789]|Fanconi anemia [RCV001228760]|Fanconi anemia complementation group L [RCV002484247]uncertain significance25816290958162909Human2name , trait , alternate_id
38488017CV943052single nucleotide variantNM_018062.4(FANCL):c.388G>T (p.Asp130Tyr)Fanconi anemia [RCV001237849]uncertain significance25820421358204213Human1name
42722910CV985190single nucleotide variantNM_018062.4(FANCL):c.488C>G (p.Pro163Arg)Fanconi anemia [RCV001863174]|Fanconi anemia complementation group L [RCV001292915]uncertain significance25819864658198646Human2name
126745495CV988915single nucleotide variantNM_018062.4(FANCL):c.679A>G (p.Arg227Gly)Fanconi anemia [RCV001296465]|Fanconi anemia complementation group L [RCV002486128]uncertain significance25816573658165736Human2name
126761929CV988916single nucleotide variantNM_018062.4(FANCL):c.319C>T (p.Pro107Ser)Fanconi anemia [RCV001309744]uncertain significance25822199758221997Human1name
126749407CV1024647single nucleotide variantNM_018062.4(FANCL):c.1021T>A (p.Trp341Arg)Fanconi anemia [RCV001337845]uncertain significance25816017958160179Human1name
127271175CV1091496single nucleotide variantNM_018062.4(FANCL):c.1124A>C (p.His375Pro)Fanconi anemia [RCV001441728]likely benign25815976958159769Human1name
150554165CV1296558single nucleotide variantNM_018062.4(FANCL):c.1065A>G (p.Ile355Met)Fanconi anemia [RCV001861103]|not provided [RCV001770795]uncertain significance25816013558160135Human1name
151748764CV1422552single nucleotide variantNM_018062.4(FANCL):c.1024C>G (p.Leu342Val)Fanconi anemia [RCV001927295]|Fanconi anemia complementation group L [RCV005023391]uncertain significance25816017658160176Human2name
151875274CV1461217single nucleotide variantNM_018062.4(FANCL):c.1121A>G (p.Lys374Arg)Fanconi anemia [RCV001925734]uncertain significance25815977258159772Human1name
151850695CV1461868single nucleotide variantNM_018062.4(FANCL):c.1078C>A (p.Pro360Thr)Fanconi anemia [RCV001978892]|Inborn genetic diseases [RCV002562783]uncertain significance25816012258160122Human2name
151892345CV1480909single nucleotide variantNM_018062.4(FANCL):c.1109T>C (p.Met370Thr)Fanconi anemia [RCV001944016]uncertain significance25815978458159784Human1name
151715228CV1493048single nucleotide variantNM_018062.4(FANCL):c.1078C>G (p.Pro360Ala)Fanconi anemia [RCV001890201]uncertain significance25816012258160122Human1name
8556875CV17574indelNM_018062.3(FANCL):c.822-15_822-9delins177Fanconi anemia complementation group L [RCV000002644]pathogenic25816295658162962Humanname
156141400CV1959726single nucleotide variantNM_018062.4(FANCL):c.1123C>G (p.His375Asp)Fanconi anemia [RCV002572585]uncertain significance25815977058159770Human1name
156146866CV1970738single nucleotide variantNM_018062.4(FANCL):c.1060A>G (p.Ile354Val)Fanconi anemia [RCV002594019]uncertain significance25816014058160140Human1name
156131067CV2125143single nucleotide variantNM_018062.4(FANCL):c.1118G>C (p.Arg373Thr)Fanconi anemia [RCV002953880]uncertain significance25815977558159775Human1name
11345883CV238962single nucleotide variantNM_018062.4(FANCL):c.1115G>C (p.Gly372Ala)Fanconi anemia [RCV000226623]|Fanconi anemia complementation group L [RCV002494656]|not specified [RCV000500570]likely benign25815977858159778Human2name
11349905CV238963single nucleotide variantNM_018062.4(FANCL):c.1067T>G (p.Phe356Cys)Fanconi anemia [RCV000232464]uncertain significance25816013358160133Human1name
243049567CV2416850single nucleotide variantNM_018062.4(FANCL):c.1096A>T (p.Ile366Phe)not specified [RCV003151522]uncertain significance25815979758159797Humanname
401941245CV2835795single nucleotide variantNM_018062.4(FANCL):c.1072G>T (p.Glu358Ter)Fanconi anemia [RCV003779033]|Fanconi anemia complementation group L [RCV003461561]likely pathogenic25816012858160128Human2name
405056388CV2882301single nucleotide variantNM_018062.4(FANCL):c.1096A>G (p.Ile366Val)Fanconi anemia [RCV003522576]|Fanconi anemia complementation group L [RCV005055221]uncertain significance25815979758159797Human2name
404988513CV2930883single nucleotide variantNM_018062.4(FANCL):c.1048C>T (p.Gln350Ter)Fanconi anemia [RCV003524799]likely pathogenic25816015258160152Human1name
405145503CV2958261single nucleotide variantNM_018062.4(FANCL):c.1042A>G (p.Ser348Gly)Fanconi anemia [RCV003636326]uncertain significance25816015858160158Human1name
597649197CV3713552single nucleotide variantNM_018062.4(FANCL):c.1040C>T (p.Thr347Ile)Fanconi anemia complementation group L [RCV005026646]uncertain significance25816016058160160Human1name
597649222CV3713555single nucleotide variantNM_018062.4(FANCL):c.1016A>T (p.Tyr339Phe)Fanconi anemia complementation group L [RCV005026649]uncertain significance25816152658161526Human1name
597649334CV3713573indelNM_018062.4(FANCL):c.375-20_375-18delinsAAFanconi anemia complementation group L [RCV005026662]uncertain significance25820424458204246Humanname
597857975CV3755787single nucleotide variantNM_018062.4(FANCL):c.1018G>A (p.Glu340Lys)Fanconi anemia [RCV005088938]uncertain significance25816152458161524Human1name
597903787CV3793161single nucleotide variantNM_018062.4(FANCL):c.1099A>C (p.Thr367Pro)Fanconi anemia [RCV005153129]uncertain significance25815979458159794Human1name
14716026CV630399single nucleotide variantNM_018062.4(FANCL):c.1088G>A (p.Ser363Asn)Fanconi anemia [RCV000794987]uncertain significance25816011258160112Human1name
14730140CV630400single nucleotide variantNM_018062.4(FANCL):c.1052G>A (p.Ser351Asn)Fanconi anemia [RCV000817249]|Fanconi anemia complementation group L [RCV005029503]uncertain significance25816014858160148Human2name
38483300CV922885single nucleotide variantNM_018062.4(FANCL):c.1050G>T (p.Gln350His)Fanconi anemia [RCV001218885]|Fanconi anemia complementation group L [RCV005029779]|Inborn genetic diseases [RCV003163681]uncertain significance25816015058160150Human3name
150499355CV1254345insertionNM_018062.4(FANCL):c.375-117_375-116insATTAnot provided [RCV001676519]benign25820434258204343Humanname
21067060CV790287deletionNM_018062.4(FANCL):c.296_297del (p.Gln99fs)Fanconi anemia [RCV001858651]|Fanconi anemia complementation group A [RCV000986764]|Fanconi anemia complementation group L [RCV003467543]|not provided [RCV002284451]pathogenic|likely pathogenic|uncertain significance25822201958222020Human3name
127243472CV1059423microsatelliteNM_018062.4(FANCL):c.813_816del (p.His272fs)Fanconi anemia [RCV001384023]pathogenic25816303458163037Humanname
151351415CV1323438deletionNM_018062.4(FANCL):c.746_756del (p.Pro249fs)Fanconi anemia complementation group L [RCV001806294]pathogenic25816345358163463Human1name
151712787CV1479599deletionNM_018062.4(FANCL):c.385_397del (p.Ala129fs)Fanconi anemia [RCV001889720]pathogenic25820420458204216Human1name
152093420CV1631950microsatelliteNM_018062.4(FANCL):c.694AAT[1] (p.Asn233del)Fanconi anemia [RCV002132325]benign25816351058163512Humanname
152978589CV1671789deletionNM_018062.4(FANCL):c.761_771del (p.Leu254fs)Fanconi anemia complementation group A [RCV002227888]pathogenic25816343858163448Human1name
11347693CV238967deletionNM_018062.4(FANCL):c.426_438del (p.Asp142fs)Fanconi anemia [RCV000232991]pathogenic25820416358204175Human1name
329846362CV2524685indelNM_018062.4(FANCL):c.148delinsTT (p.Asn50fs)Fanconi anemia complementation group L [RCV003228168]uncertain significance25823206158232061Humanname
401942603CV2835798deletionNM_018062.4(FANCL):c.716_728del (p.Glu239fs)Fanconi anemia complementation group L [RCV003468189]likely pathogenic25816348158163493Human1name
405156781CV2982717microsatelliteNM_018062.4(FANCL):c.455_456del (p.Leu152fs)Fanconi anemia [RCV003637280]pathogenic25820414558204146Humanname
405868763CV3400593duplicationNM_018062.4(FANCL):c.328_335dup (p.Leu114fs)Fanconi anemia complementation group L [RCV004576596]likely pathogenic25822198058221981Human1name
597926270CV3840666deletionNM_018062.4(FANCL):c.786_787del (p.Leu263fs)Fanconi anemia [RCV005185137]pathogenic25816306358163064Human1name
13467735CV451725microsatelliteNM_018062.4(FANCL):c.759_762del (p.Phe253fs)Fanconi anemia [RCV000544104]|Fanconi anemia complementation group L [RCV003470721]pathogenic|likely pathogenic25816344758163450Humanname
14398975CV614248microsatelliteNM_018062.4(FANCL):c.548TAA[1] (p.Ile184del)Fanconi anemia complementation group L [RCV000767962]uncertain significance25816586258165864Humanname
28880587CV859181duplicationNM_018062.4(FANCL):c.739_740dup (p.Met247fs)Fanconi anemia [RCV001862686]|Fanconi anemia complementation group L [RCV005029685]|not provided [RCV001090967]pathogenic25816346858163469Human2name
126762836CV1024650deletionNM_018062.4(FANCL):c.625_627del (p.Glu209del)Fanconi anemia [RCV001341087]uncertain significance25816578858165790Human1name
155983176CV2098310microsatelliteNM_018062.4(FANCL):c.1033CTA[1] (p.Leu346del)Fanconi anemia [RCV002907801]uncertain significance25816016258160164Humanname
156180150CV2155407insertionNM_018062.4(FANCL):c.885_886insA (p.Ala296fs)Fanconi anemia [RCV003005679]pathogenic25816288358162884Human1name
126746291CV1015355microsatelliteNM_018062.4(FANCL):c.1051_1052dup (p.Ser351fs)Fanconi anemia [RCV005408836]|Fanconi anemia complementation group L [RCV002504517]likely pathogenic|uncertain significance25816014758160148Humanname
12887672CV393419microsatelliteNM_018062.4(FANCL):c.1051_1052del (p.Ser351fs)Fanconi anemia [RCV000469469]|Fanconi anemia complementation group L [RCV003470446]|Inborn genetic diseases [RCV000624824]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance25816014858160149Humanname
21405323CV799093deletionNM_018062.4(FANCL):c.1048_1051del (p.Gln350fs)Fanconi anemia complementation group L [RCV001000101]|not provided [RCV001195067]pathogenic|likely pathogenic25816014958160152Human1name
405868758CV3400591insertionNM_018062.4(FANCL):c.1017_1018insA (p.Glu340fs)Fanconi anemia [RCV005101929]|Fanconi anemia complementation group L [RCV004576594]pathogenic|likely pathogenic25816152458161525Human2name
156267188CV1919001indelNM_018062.4(FANCL):c.280_281delinsTT (p.Ala94Phe)Fanconi anemia [RCV002627970]uncertain significance25822203558222036Humanname
405136624CV3025199deletionNM_018062.4(FANCL):c.863del (p.Val287_Leu288insTer)Fanconi anemia [RCV003635435]pathogenic25816290658162906Human1name
597649213CV3713554indelNM_018062.4(FANCL):c.1016_1017delinsTTA (p.Tyr339fs)Fanconi anemia complementation group L [RCV005026648]likely pathogenic25816152558161526Humanname
405057629CV2922863microsatelliteNM_018062.4(FANCL):c.231_232del (p.Ser77_Pro78insTer)Fanconi anemia [RCV003522703]pathogenic25822676958226770Humanname
155931866CV2129202duplicationNM_018062.4(FANCL):c.558_561dup (p.Ser188delinsLeuTer)Fanconi anemia [RCV002970673]pathogenic25816585358165854Human1name
405163202CV2996737duplicationNM_018062.4(FANCL):c.639_642dup (p.Glu215delinsThrTer)Fanconi anemia [RCV003637794]pathogenic25816577258165773Human1name
597922905CV3775788deletionNM_018062.4(FANCL):c.633_640del (p.Thr211_Trp212insTer)Fanconi anemia [RCV005115503]pathogenic25816577558165782Human1name
401942589CV2835791microsatelliteNM_018062.4(FANCL):c.1039_1042dup (p.Ser348delinsAsnTer)Fanconi anemia [RCV003523190]|Fanconi anemia complementation group L [RCV003468186]likely pathogenic25816015758160158Humanname
11346400CV238964deletionNM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)FANCL-related disorder [RCV003955360]|Fanconi anemia [RCV000228349]|Fanconi anemia complementation group L [RCV000500979]|Premature ovarian insufficiency [RCV000766177]|not provided [RCV000479284]|not specified [RCV002298549]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance25816153358161535Human5name , trait , alternate_id
401941246CV2835796deletionNM_018062.4(FANCL):c.1023_1031del (p.Trp341_Gly344delinsTer)Fanconi anemia [RCV003636037]|Fanconi anemia complementation group L [RCV003461562]pathogenic|likely pathogenic25816016958160177Human2name
14398976CV614249indelNM_018062.4(FANCL):c.147_148delinsTT (p.Lys49_Asn50delinsAsnTyr)Fanconi anemia [RCV001855968]|Fanconi anemia complementation group L [RCV000767963]uncertain significance25823206158232062Humanname
10407083CV207011duplicationNM_006296.7(VRK2):c.*102_*105dupFANCL-related disorder [RCV003401051]|Fanconi anemia [RCV000226300]|Fanconi anemia complementation group L [RCV001195069]|Hereditary cancer [RCV005235093]|not provided [RCV000513086]|not specified [RCV000192919]pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance25815979358159794Human3trait , alternate_id