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1003 records found for search term Sufu
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
13519591CV487272single nucleotide variantNM_016169.4(SUFU):c.*20=not provided [RCV000586161]benign10102630175102630175Humanname
150425723CV1184314single nucleotide variantNM_016169.4(SUFU):c.*6G>ASUFU-related disorder [RCV004551905]|not provided [RCV001558389]likely benign10102630161102630161Humanname , alternate_id
329357986CV2422309single nucleotide variantNM_016169.4(SUFU):c.-2C>GHereditary cancer-predisposing syndrome [RCV003165103]uncertain significance10102504151102504151Human1name
598124202CV3881365single nucleotide variantNM_016169.4(SUFU):c.-2C>Tnot specified [RCV005231790]uncertain significance10102504151102504151Humanname
25318154CV809808single nucleotide variantNM_016169.4(SUFU):c.-3C>THereditary cancer-predisposing syndrome [RCV001021624]uncertain significance10102504150102504150Human1name
150335150CV1164346single nucleotide variantNM_016169.4(SUFU):c.*20T>GGorlin syndrome [RCV001816013]|Joubert syndrome 32 [RCV001816014]|not provided [RCV004718881]|not specified [RCV001530123]benign10102630175102630175Human2name
11653113CV309280single nucleotide variantNM_016169.4(SUFU):c.-81C>AMedulloblastoma [RCV000308749]uncertain significance10102504072102504072Human2name
11651021CV313981single nucleotide variantNM_016169.4(SUFU):c.*61G>AMedulloblastoma [RCV000296259]likely benign|uncertain significance10102630216102630216Human2name
11658230CV320408single nucleotide variantNM_016169.4(SUFU):c.-81C>TMedulloblastoma [RCV000347301]uncertain significance10102504072102504072Human2name
11664256CV320411single nucleotide variantNM_016169.4(SUFU):c.-33C>TMedulloblastoma [RCV000404241]|not provided [RCV004705144]|not specified [RCV000603009]benign|likely benign|uncertain significance10102504120102504120Human2name
598124201CV3881364single nucleotide variantNM_016169.4(SUFU):c.-48C>Gnot specified [RCV005231789]likely benign10102504105102504105Humanname
11664462CV309272single nucleotide variantNM_016169.4(SUFU):c.-103C>AMedulloblastoma [RCV000405553]uncertain significance10102504050102504050Human2name
11649492CV309282single nucleotide variantNM_016169.4(SUFU):c.*205G>AMedulloblastoma [RCV000287872]|not provided [RCV001552329]likely benign10102630360102630360Human2name
11664452CV309283single nucleotide variantNM_016169.4(SUFU):c.*520G>AMedulloblastoma [RCV000405953]uncertain significance10102630675102630675Human2name
11652309CV309285single nucleotide variantNM_016169.4(SUFU):c.*907C>GMedulloblastoma [RCV000304047]uncertain significance10102631062102631062Human2name
11650896CV313963single nucleotide variantNM_016169.4(SUFU):c.-178C>TMedulloblastoma [RCV000295511]|not provided [RCV001711896]benign|likely benign10102503975102503975Human2name
11658710CV313983single nucleotide variantNM_016169.4(SUFU):c.*118C>TMedulloblastoma [RCV000351120]|not provided [RCV004718187]benign|likely benign10102630273102630273Human2name
11663120CV319845single nucleotide variantNM_016169.4(SUFU):c.-181A>GMedulloblastoma [RCV000392780]uncertain significance10102503972102503972Human2name
11664681CV319856single nucleotide variantNM_016169.4(SUFU):c.*376G>AMedulloblastoma [RCV000407982]uncertain significance10102630531102630531Human2name
11657204CV319860single nucleotide variantNM_016169.4(SUFU):c.*476A>GMedulloblastoma [RCV000339341]uncertain significance10102630631102630631Human2name
11658890CV320407single nucleotide variantNM_016169.4(SUFU):c.-163A>GMedulloblastoma [RCV000352646]uncertain significance10102503990102503990Human2name
11662060CV320423single nucleotide variantNM_016169.4(SUFU):c.*131C>GMedulloblastoma [RCV000382352]uncertain significance10102630286102630286Human2name
11658272CV320424single nucleotide variantNM_016169.4(SUFU):c.*352C>GMedulloblastoma [RCV000347559]uncertain significance10102630507102630507Human2name
11652140CV320425single nucleotide variantNM_016169.4(SUFU):c.*391A>GMedulloblastoma [RCV000303005]|not provided [RCV004718188]benign|likely benign10102630546102630546Human2name
11659059CV320429single nucleotide variantNM_016169.4(SUFU):c.*915G>CMedulloblastoma [RCV000354247]uncertain significance10102631070102631070Human2name
14732487CV664497single nucleotide variantNM_016169.3(SUFU):c.-235T>Cnot provided [RCV000836610]benign10102503918102503918Humanname
28904317CV865294single nucleotide variantNM_016169.3(SUFU):c.-189C>TMedulloblastoma [RCV001105520]uncertain significance10102503964102503964Human2name
28904548CV865296single nucleotide variantNM_016169.4(SUFU):c.*138C>TMedulloblastoma [RCV001105630]uncertain significance10102630293102630293Human2name
28904551CV865297single nucleotide variantNM_016169.4(SUFU):c.*305C>AMedulloblastoma [RCV001105631]uncertain significance10102630460102630460Human2name
28906628CV865298single nucleotide variantNM_016169.4(SUFU):c.*405G>AMedulloblastoma [RCV001106766]uncertain significance10102630560102630560Human2name
28906631CV865299single nucleotide variantNM_016169.4(SUFU):c.*505T>GMedulloblastoma [RCV001106767]likely benign10102630660102630660Human2name
28906634CV865300single nucleotide variantNM_016169.4(SUFU):c.*721T>GMedulloblastoma [RCV001106768]uncertain significance10102630876102630876Human2name
28907755CV865301single nucleotide variantNM_016169.4(SUFU):c.*742G>AMedulloblastoma [RCV001107402]likely benign10102630897102630897Human2name
28907758CV865302single nucleotide variantNM_016169.4(SUFU):c.*844G>AMedulloblastoma [RCV001107403]uncertain significance10102630999102630999Human2name
28904315CV868429single nucleotide variantNM_016169.3(SUFU):c.-202C>TMedulloblastoma [RCV001105519]uncertain significance10102503951102503951Human2name
126760197CV1008849single nucleotide variantNM_016169.4(SUFU):c.182+6C>TGorlin syndrome [RCV001318273]uncertain significance10102504340102504340Human2name
127243692CV1055886single nucleotide variantNM_016169.4(SUFU):c.683+1G>AGorlin syndrome [RCV001377148]|not provided [RCV004998863]likely pathogenic10102593722102593722Human2name
127251593CV1076875single nucleotide variantNM_016169.4(SUFU):c.597+8A>CGorlin syndrome [RCV001417820]likely benign10102592732102592732Human2name
127240723CV1076880single nucleotide variantNM_016169.4(SUFU):c.910+8C>GGorlin syndrome [RCV001397822]|SUFU-related disorder [RCV004550112]likely benign10102597301102597301Human3name , alternate_id
127251855CV1076881single nucleotide variantNM_016169.4(SUFU):c.910+9C>TGorlin syndrome [RCV001417906]likely benign10102597302102597302Human2name
127241855CV1098520single nucleotide variantNM_016169.4(SUFU):c.182+7T>AGorlin syndrome [RCV001434501]likely benign10102504341102504341Human2name
127262940CV1098521single nucleotide variantNM_016169.4(SUFU):c.182+7T>CGorlin syndrome [RCV001439169]likely benign10102504341102504341Human2name
127257559CV1098523single nucleotide variantNM_016169.4(SUFU):c.455-5C>TGorlin syndrome [RCV001427135]likely benign10102592577102592577Human2name
127248711CV1098524single nucleotide variantNM_016169.4(SUFU):c.597+9C>TGorlin syndrome [RCV001435901]likely benign10102592733102592733Human2name
127263152CV1098525single nucleotide variantNM_016169.4(SUFU):c.598-8G>TGorlin syndrome [RCV001439218]likely benign10102593628102593628Human2name
127264023CV1098527single nucleotide variantNM_016169.4(SUFU):c.684-9T>CGorlin syndrome [RCV001439512]likely benign10102593984102593984Human2name
127334677CV1120109single nucleotide variantNM_016169.4(SUFU):c.455-6C>TGorlin syndrome [RCV001473746]likely benign10102592576102592576Human2name
127333559CV1120111single nucleotide variantNM_016169.4(SUFU):c.598-6C>TGorlin syndrome [RCV001473010]likely benign10102593630102593630Human2name
127302789CV1120112single nucleotide variantNM_016169.4(SUFU):c.598-4T>GGorlin syndrome [RCV001454520]|Hereditary cancer-predisposing syndrome [RCV003346568]likely benign10102593632102593632Human3name
127297583CV1120116single nucleotide variantNM_016169.4(SUFU):c.911-8C>TGorlin syndrome [RCV001477648]|not provided [RCV003311995]likely benign|uncertain significance10102599425102599425Human2name
127327364CV1140946single nucleotide variantNM_016169.4(SUFU):c.317+9A>CGorlin syndrome [RCV001506566]likely benign10102509312102509312Human2name
127306924CV1140949single nucleotide variantNM_016169.4(SUFU):c.598-4T>CGorlin syndrome [RCV001500348]likely benign10102593632102593632Human2name
151783974CV1344648single nucleotide variantNM_016169.4(SUFU):c.317+1G>AGorlin syndrome [RCV001989389]likely pathogenic10102509304102509304Human2name
151748717CV1362617single nucleotide variantNM_016169.4(SUFU):c.318-1G>CGorlin syndrome [RCV001968949]likely pathogenic10102549969102549969Human2name
151782546CV1422300single nucleotide variantNM_016169.4(SUFU):c.182+3A>CGorlin syndrome [RCV001972212]likely pathogenic|uncertain significance10102504337102504337Human2name
151799193CV1430082single nucleotide variantNM_016169.4(SUFU):c.183-2A>CGorlin syndrome [RCV001990795]likely pathogenic10102509167102509167Human2name
151873131CV1430139single nucleotide variantNM_016169.4(SUFU):c.182+1G>AGorlin syndrome [RCV002035931]likely pathogenic10102504335102504335Human2name
151751543CV1508405single nucleotide variantNM_016169.4(SUFU):c.910+5G>AGorlin syndrome [RCV001986330]uncertain significance10102597298102597298Human2name
152139212CV1559904single nucleotide variantNM_016169.4(SUFU):c.598-8G>CGorlin syndrome [RCV002137953]likely benign10102593628102593628Human2name
152155777CV1561020single nucleotide variantNM_016169.4(SUFU):c.182+9T>CGorlin syndrome [RCV002102908]likely benign10102504343102504343Human2name
152030212CV1622068single nucleotide variantNM_016169.4(SUFU):c.911-4G>TGorlin syndrome [RCV002186409]likely benign10102599429102599429Human2name
152089752CV1634060single nucleotide variantNM_016169.4(SUFU):c.757-7C>TGorlin syndrome [RCV002194144]likely benign10102597133102597133Human2name
152065184CV1652519single nucleotide variantNM_016169.4(SUFU):c.757-6A>GGorlin syndrome [RCV002090803]likely benign10102597134102597134Human2name
155677868CV1815177single nucleotide variantNM_016169.4(SUFU):c.683+5G>AHereditary cancer-predisposing syndrome [RCV002369650]likely pathogenic10102593726102593726Human1name
155711202CV1817811single nucleotide variantNM_016169.4(SUFU):c.911-8C>AHereditary cancer-predisposing syndrome [RCV002378690]likely pathogenic10102599425102599425Human1name
156360705CV2016625single nucleotide variantNM_016169.4(SUFU):c.910+7G>AGorlin syndrome [RCV002720839]likely benign10102597300102597300Human2name
156024408CV2020004single nucleotide variantNM_016169.4(SUFU):c.683+7A>TGorlin syndrome [RCV002691155]uncertain significance10102593728102593728Human2name
156237310CV2036702single nucleotide variantNM_016169.4(SUFU):c.455-9C>TGorlin syndrome [RCV002805545]likely benign10102592573102592573Human2name
156042820CV2089733single nucleotide variantNM_016169.4(SUFU):c.318-9G>AGorlin syndrome [RCV002867509]likely benign10102549961102549961Human2name
156087121CV2155384single nucleotide variantNM_016169.4(SUFU):c.318-3C>TGorlin syndrome [RCV003020546]uncertain significance10102549967102549967Human2name
11348380CV240725single nucleotide variantNM_016169.4(SUFU):c.183-4G>AGorlin syndrome [RCV000226395]|Gorlin syndrome [RCV001294223]|Hereditary cancer-predisposing syndrome [RCV001013328]|SUFU-related disorder [RCV004547610]|not provided [RCV003477833]benign|likely benign|uncertain significance10102509165102509165Human4name , alternate_id
329386143CV2433599single nucleotide variantNM_016169.4(SUFU):c.911-3C>THereditary cancer-predisposing syndrome [RCV003177391]uncertain significance10102599430102599430Human1name
401899403CV2790336duplicationNM_016169.4(SUFU):c.183-5dupHereditary cancer-predisposing syndrome [RCV003377590]likely benign10102509158102509159Human1name
404995822CV3085410single nucleotide variantNM_016169.4(SUFU):c.911-4G>AGorlin syndrome [RCV003782941]|Hereditary cancer-predisposing syndrome [RCV005281482]likely benign10102599429102599429Human3name
402521335CV3086340single nucleotide variantNM_016169.4(SUFU):c.183-1G>TGorlin syndrome [RCV003781113]likely pathogenic10102509168102509168Human2name
405003513CV3086377single nucleotide variantNM_016169.4(SUFU):c.910+7G>CGorlin syndrome [RCV003783590]likely benign10102597300102597300Human2name
404984218CV3087225single nucleotide variantNM_016169.4(SUFU):c.317+7A>GGorlin syndrome [RCV003781688]likely benign10102509310102509310Human2name
402491614CV3091092single nucleotide variantNM_016169.4(SUFU):c.454+7G>TGorlin syndrome [RCV003787597]likely benign10102550113102550113Human2name
11651754CV309286single nucleotide variantNM_016169.4(SUFU):c.*1122C>TMedulloblastoma [RCV000300391]|not provided [RCV004718189]benign|likely benign10102631277102631277Human5name
11647147CV309291single nucleotide variantNM_016169.4(SUFU):c.*1389C>TMedulloblastoma [RCV000274767]uncertain significance10102631544102631544Human2name
11650083CV309296single nucleotide variantNM_016169.4(SUFU):c.*1889C>TMedulloblastoma [RCV000290778]uncertain significance10102632044102632044Human2name
11663008CV309298single nucleotide variantNM_016169.4(SUFU):c.*2172G>AMedulloblastoma [RCV000391179]likely benign|uncertain significance10102632327102632327Human2name
11647953CV309299single nucleotide variantNM_016169.4(SUFU):c.*2195G>TMedulloblastoma [RCV000279166]uncertain significance10102632350102632350Human2name
11657098CV309306single nucleotide variantNM_016169.4(SUFU):c.*2267G>TMedulloblastoma [RCV000338784]uncertain significance10102632422102632422Human2name
11664253CV309308single nucleotide variantNM_016169.4(SUFU):c.*2475C>TMedulloblastoma [RCV000403875]uncertain significance10102632630102632630Human2name
11660501CV309311single nucleotide variantNM_016169.4(SUFU):c.*2585T>CMedulloblastoma [RCV000367633]|not provided [RCV004718193]benign|likely benign10102632740102632740Human5name
11664176CV309312single nucleotide variantNM_016169.4(SUFU):c.*2643C>GMedulloblastoma [RCV000403067]uncertain significance10102632798102632798Human2name
11654774CV309328single nucleotide variantNM_016169.4(SUFU):c.*3239C>GMedulloblastoma [RCV000320507]uncertain significance10102633394102633394Human2name
11661769CV309329single nucleotide variantNM_016169.4(SUFU):c.*3290C>GMedulloblastoma [RCV000379684]likely benign|uncertain significance10102633445102633445Human2name
405006926CV3096131single nucleotide variantNM_016169.4(SUFU):c.683+8C>GGorlin syndrome [RCV003794281]likely benign10102593729102593729Human2name
404986794CV3096905single nucleotide variantNM_016169.4(SUFU):c.684-5C>TGorlin syndrome [RCV003792294]likely benign10102593988102593988Human2name
405071033CV3099840single nucleotide variantNM_016169.4(SUFU):c.597+9C>AGorlin syndrome [RCV003799555]likely benign10102592733102592733Human2name
405175668CV3101085single nucleotide variantNM_016169.4(SUFU):c.911-1G>TGorlin syndrome [RCV003803472]likely pathogenic10102599432102599432Human2name
405167490CV3107227single nucleotide variantNM_016169.4(SUFU):c.317+9A>GGorlin syndrome [RCV003802718]likely benign10102509312102509312Human2name
405053734CV3107720single nucleotide variantNM_016169.4(SUFU):c.911-2A>CGorlin syndrome [RCV003808465]|Hereditary cancer-predisposing syndrome [RCV004950695]likely pathogenic|uncertain significance10102599431102599431Human3name
405043121CV3113030single nucleotide variantNM_016169.4(SUFU):c.684-6C>TGorlin syndrome [RCV003807697]likely benign10102593987102593987Human2name
405082421CV3113513duplicationNM_016169.4(SUFU):c.597+6dupGorlin syndrome [RCV003810530]likely benign10102592728102592729Human2name
11644326CV313988single nucleotide variantNM_016169.4(SUFU):c.*1104C>TMedulloblastoma [RCV000259257]uncertain significance10102631259102631259Human2name
11646463CV313996single nucleotide variantNM_016169.4(SUFU):c.*1672A>GMedulloblastoma [RCV000270789]|not provided [RCV004705145]likely benign10102631827102631827Human2name
11660030CV314004single nucleotide variantNM_016169.4(SUFU):c.*2720C>TMedulloblastoma [RCV000363407]likely benign|uncertain significance10102632875102632875Human2name
11660148CV314005single nucleotide variantNM_016169.4(SUFU):c.*3086A>GMedulloblastoma [RCV000364442]likely benign10102633241102633241Human2name
405275458CV3196343single nucleotide variantNM_016169.4(SUFU):c.317+3G>ASUFU-related disorder [RCV004554507]likely benign10102509306102509306Humanname , trait , alternate_id
11659179CV319861single nucleotide variantNM_016169.4(SUFU):c.*1373C>TMedulloblastoma [RCV000355483]|not provided [RCV004718190]benign|likely benign10102631528102631528Human2name
11655458CV319862single nucleotide variantNM_016169.4(SUFU):c.*1675G>AMedulloblastoma [RCV000325768]likely benign10102631830102631830Human2name
11662348CV319864single nucleotide variantNM_016169.4(SUFU):c.*1715A>GMedulloblastoma [RCV000385108]|not provided [RCV004718192]benign|likely benign10102631870102631870Human2name
11657425CV319865single nucleotide variantNM_016169.4(SUFU):c.*1936C>TMedulloblastoma [RCV000341098]uncertain significance10102632091102632091Human2name
11657518CV319866single nucleotide variantNM_016169.4(SUFU):c.*2157C>TMedulloblastoma [RCV000341841]likely benign|uncertain significance10102632312102632312Human2name
11653776CV319870single nucleotide variantNM_016169.4(SUFU):c.*2553T>CMedulloblastoma [RCV000313006]uncertain significance10102632708102632708Human2name
11653986CV319883single nucleotide variantNM_016169.4(SUFU):c.*2668C>TMedulloblastoma [RCV000314228]|not provided [RCV004718194]benign|likely benign10102632823102632823Human7name
11653986CV319883single nucleotide variantNM_016169.4(SUFU):c.*2668C>TMedulloblastoma [RCV000314228]|not provided [RCV004718194]benign|likely benign10102632823102632824Human7name
11646068CV319897single nucleotide variantNM_016169.4(SUFU):c.*2729T>CMedulloblastoma [RCV000268756]uncertain significance10102632884102632884Human2name
11655836CV319900single nucleotide variantNM_016169.4(SUFU):c.*2956C>TMedulloblastoma [RCV000328471]uncertain significance10102633111102633111Human2name
11655970CV320438single nucleotide variantNM_016169.4(SUFU):c.*1451C>TMedulloblastoma [RCV000329754]uncertain significance10102631606102631606Human2name
11662755CV320442single nucleotide variantNM_016169.4(SUFU):c.*1633C>TMedulloblastoma [RCV000389014]|not provided [RCV004718191]benign|likely benign10102631788102631788Human2name
11661506CV320443single nucleotide variantNM_016169.4(SUFU):c.*1997A>GMedulloblastoma [RCV000377085]uncertain significance10102632152102632152Human2name
11649390CV320445single nucleotide variantNM_016169.4(SUFU):c.*2140G>TMedulloblastoma [RCV000286894]likely benign|uncertain significance10102632295102632295Human2name
405708219CV3384327single nucleotide variantNM_016169.4(SUFU):c.756+3A>GHereditary cancer-predisposing syndrome [RCV004522057]uncertain significance10102594068102594068Human1name
407497090CV3481819single nucleotide variantNM_016169.4(SUFU):c.597+2T>GHereditary cancer-predisposing syndrome [RCV004668302]uncertain significance10102592726102592726Human1name
408386331CV3522466single nucleotide variantNM_016169.4(SUFU):c.756+3A>Tnot provided [RCV004767826]uncertain significance10102594068102594068Humanname
597671391CV3611881single nucleotide variantNM_016169.4(SUFU):c.182+5G>THereditary cancer-predisposing syndrome [RCV004949249]uncertain significance10102504339102504339Human1name
597840145CV3867837single nucleotide variantNM_016169.4(SUFU):c.757-4G>AGorlin syndrome [RCV005211033]likely benign10102597136102597136Human2name
597892233CV3868014single nucleotide variantNM_016169.4(SUFU):c.598-7G>AGorlin syndrome [RCV005219042]likely benign10102593629102593629Human2name
597851161CV3877053single nucleotide variantNM_016169.4(SUFU):c.598-5C>AGorlin syndrome [RCV005228281]likely benign10102593631102593631Human2name
598227490CV3892434single nucleotide variantNM_016169.4(SUFU):c.684-2A>TSUFU-related ocular motor apraxia [RCV005254269]likely pathogenic10102593991102593991Humanname
12880614CV397651single nucleotide variantNM_016169.4(SUFU):c.910+4G>AGorlin syndrome [RCV000456331]|Hereditary cancer-predisposing syndrome [RCV001018854]uncertain significance10102597297102597297Human3name
12887575CV397654single nucleotide variantNM_016169.4(SUFU):c.911-7G>AGorlin syndrome [RCV000469308]|Hereditary cancer-predisposing syndrome [RCV002256252]|not provided [RCV001529883]|not specified [RCV001821240]likely benign|uncertain significance10102599426102599426Human3name
13493324CV459611single nucleotide variantNM_016169.4(SUFU):c.182+8C>GGorlin syndrome [RCV000558101]likely benign10102504342102504342Human2name
13490474CV459622single nucleotide variantNM_016169.4(SUFU):c.757-4G>TGorlin syndrome [RCV000556003]|Hereditary cancer-predisposing syndrome [RCV001026578]likely benign|uncertain significance10102597136102597136Human3name
13479258CV460472deletionNM_016169.4(SUFU):c.183-4delGorlin syndrome [RCV001416587]|Hereditary cancer-predisposing syndrome [RCV000566079]likely benign|uncertain significance10102509165102509165Human3name
13608380CV525449single nucleotide variantNM_016169.4(SUFU):c.183-1G>AGorlin syndrome [RCV000628498]|Hereditary cancer-predisposing syndrome [RCV004948478]likely pathogenic|uncertain significance10102509168102509168Human3name
13816512CV563537single nucleotide variantNM_016169.4(SUFU):c.454+1G>AGorlin syndrome [RCV000692365]pathogenic|likely pathogenic10102550107102550107Human2name
14732180CV651997single nucleotide variantNM_016169.4(SUFU):c.684-2A>GGorlin syndrome [RCV000801738]likely pathogenic10102593991102593991Human2name
14709937CV652024single nucleotide variantNM_016169.4(SUFU):c.757-5A>GGorlin syndrome [RCV000809473]uncertain significance10102597135102597135Human2name
14713916CV652122single nucleotide variantNM_016169.4(SUFU):c.182+3A>GGorlin syndrome [RCV000810718]|Hereditary cancer-predisposing syndrome [RCV002406823]uncertain significance10102504337102504337Human3name
14744979CV652310single nucleotide variantNM_016169.4(SUFU):c.597+1G>CGorlin syndrome [RCV000824435]likely pathogenic10102592725102592725Human2name
15155812CV689969single nucleotide variantNM_016169.4(SUFU):c.683+8C>TGorlin syndrome [RCV000868110]likely benign10102593729102593729Human2name
15160328CV759855single nucleotide variantNM_016169.4(SUFU):c.318-7C>GGorlin syndrome [RCV000925462]|SUFU-related disorder [RCV004551865]likely benign10102549963102549963Human3name , alternate_id
15200835CV775455single nucleotide variantNM_016169.4(SUFU):c.454+8G>AGorlin syndrome [RCV000935492]likely benign10102550114102550114Human2name
15123632CV787829single nucleotide variantNM_016169.4(SUFU):c.683+7A>GGorlin syndrome [RCV001473821]likely benign10102593728102593728Human2name
25324347CV815421single nucleotide variantNM_016169.4(SUFU):c.597+1G>AHereditary cancer-predisposing syndrome [RCV001024735]likely pathogenic10102592725102592725Human1name
25324349CV815422single nucleotide variantNM_016169.4(SUFU):c.597+5G>AGorlin syndrome [RCV002067678]|Hereditary cancer-predisposing syndrome [RCV001024736]likely benign|uncertain significance10102592729102592729Human3name
25325496CV815423single nucleotide variantNM_016169.4(SUFU):c.683+3G>AGorlin syndrome [RCV003769610]|Hereditary cancer-predisposing syndrome [RCV001025704]likely benign|uncertain significance10102593724102593724Human3name
26915678CV851363single nucleotide variantNM_016169.4(SUFU):c.182+4T>CGorlin syndrome [RCV001041494]uncertain significance10102504338102504338Human2name
26885542CV851365single nucleotide variantNM_016169.4(SUFU):c.597+6G>AGorlin syndrome [RCV001043615]likely benign|uncertain significance10102592730102592730Human2name
26906668CV852539single nucleotide variantNM_016169.4(SUFU):c.317+5G>TGorlin syndrome [RCV001037579]uncertain significance10102509308102509308Human2name
28907761CV865303single nucleotide variantNM_016169.4(SUFU):c.*1145A>GMedulloblastoma [RCV001107404]uncertain significance10102631300102631300Human2name
28900322CV865304single nucleotide variantNM_016169.4(SUFU):c.*1690A>GMedulloblastoma [RCV001103777]uncertain significance10102631845102631845Human2name
28900324CV865305single nucleotide variantNM_016169.4(SUFU):c.*1720C>GMedulloblastoma [RCV001103778]uncertain significance10102631875102631875Human2name
28904732CV865306single nucleotide variantNM_016169.4(SUFU):c.*1785C>TMedulloblastoma [RCV001105718]uncertain significance10102631940102631940Human2name
28904736CV865307single nucleotide variantNM_016169.4(SUFU):c.*1908C>GMedulloblastoma [RCV001105719]uncertain significance10102632063102632063Human2name
28904740CV865308single nucleotide variantNM_016169.4(SUFU):c.*2150G>AMedulloblastoma [RCV001105720]likely benign10102632305102632305Human2name
28906764CV865309single nucleotide variantNM_016169.4(SUFU):c.*2278C>GMedulloblastoma [RCV001106836]uncertain significance10102632433102632433Human2name
28906766CV865310single nucleotide variantNM_016169.4(SUFU):c.*2479C>TMedulloblastoma [RCV001106837]uncertain significance10102632634102632634Human2name
28907930CV865311single nucleotide variantNM_016169.4(SUFU):c.*2657T>CMedulloblastoma [RCV001107498]uncertain significance10102632812102632812Human2name
28907931CV865312single nucleotide variantNM_016169.4(SUFU):c.*2757G>AMedulloblastoma [RCV001107499]uncertain significance10102632912102632912Human2name
28907933CV865313single nucleotide variantNM_016169.4(SUFU):c.*3025T>CMedulloblastoma [RCV001107500]uncertain significance10102633180102633180Human2name
28900526CV865314single nucleotide variantNM_016169.4(SUFU):c.*3045A>GMedulloblastoma [RCV001103873]uncertain significance10102633200102633200Human2name
28900528CV865315single nucleotide variantNM_016169.4(SUFU):c.*3110C>TMedulloblastoma [RCV001103874]uncertain significance10102633265102633265Human2name
28900531CV865316single nucleotide variantNM_016169.4(SUFU):c.*3268G>CMedulloblastoma [RCV001103875]likely benign10102633423102633423Human2name
38472866CV959927single nucleotide variantNM_016169.4(SUFU):c.454+6A>TGorlin syndrome [RCV001231667]uncertain significance10102550112102550112Human2name
126774061CV1029432single nucleotide variantNM_016169.4(SUFU):c.1365+1G>AGorlin syndrome [RCV001346789]likely pathogenic|uncertain significance10102627244102627244Human2name
127269229CV1076882single nucleotide variantNM_016169.4(SUFU):c.1023-6T>CGorlin syndrome [RCV001404602]|not provided [RCV004998873]likely benign|uncertain significance10102615262102615262Human2name
127332109CV1140954single nucleotide variantNM_016169.4(SUFU):c.1296+9G>TGorlin syndrome [RCV001489281]likely benign10102617437102617437Human2name
150434975CV1206881single nucleotide variantNM_016169.4(SUFU):c.598-68G>Cnot provided [RCV001582230]likely benign10102593568102593568Humanname
150431763CV1236518single nucleotide variantNM_016169.4(SUFU):c.757-75A>Gnot provided [RCV001641922]benign10102597065102597065Humanname
151728049CV1335119single nucleotide variantNM_016169.4(SUFU):c.1366-1G>Anot provided [RCV001844437]not provided10102630065102630065Humanname
151863964CV1336752single nucleotide variantNM_016169.4(SUFU):c.318-53G>Tnot provided [RCV002034801]likely benign10102549917102549917Humanname
151780522CV1357591single nucleotide variantNM_016169.4(SUFU):c.1296+3G>AGorlin syndrome [RCV001875312]|Hereditary cancer-predisposing syndrome [RCV002386662]uncertain significance10102617431102617431Human3name
151875835CV1466893single nucleotide variantNM_016169.4(SUFU):c.1158-3C>TGorlin syndrome [RCV001885848]|Hereditary cancer-predisposing syndrome [RCV004041068]uncertain significance10102617287102617287Human3name
152097982CV1531590single nucleotide variantNM_016169.4(SUFU):c.911-19C>TGorlin syndrome [RCV002213622]likely benign10102599414102599414Human2name
152052698CV1531762single nucleotide variantNM_016169.4(SUFU):c.317+18G>CGorlin syndrome [RCV002072578]likely benign10102509321102509321Human2name
152085180CV1533694single nucleotide variantNM_016169.4(SUFU):c.455-17T>GGorlin syndrome [RCV002093385]likely benign10102592565102592565Human2name
152059262CV1536048single nucleotide variantNM_016169.4(SUFU):c.455-19C>AGorlin syndrome [RCV002146581]likely benign10102592563102592563Human2name
152162810CV1537403single nucleotide variantNM_016169.4(SUFU):c.911-12G>AGorlin syndrome [RCV002159946]likely benign10102599421102599421Human2name
152059199CV1539202single nucleotide variantNM_016169.4(SUFU):c.182+14C>GGorlin syndrome [RCV002073468]likely benign10102504348102504348Human2name
152026172CV1540621single nucleotide variantNM_016169.4(SUFU):c.911-10G>TGorlin syndrome [RCV002104466]likely benign10102599423102599423Human2name
152165236CV1543724single nucleotide variantNM_016169.4(SUFU):c.182+11G>AGorlin syndrome [RCV002123969]likely benign10102504345102504345Human2name
152159256CV1544367single nucleotide variantNM_016169.4(SUFU):c.911-16A>CGorlin syndrome [RCV002122902]benign10102599417102599417Human2name
152118770CV1558229single nucleotide variantNM_016169.4(SUFU):c.683+12T>CGorlin syndrome [RCV002135436]likely benign10102593733102593733Human2name
152106041CV1560015single nucleotide variantNM_016169.4(SUFU):c.454+10C>TGorlin syndrome [RCV002133863]likely benign10102550116102550116Human2name
152135788CV1560464single nucleotide variantNM_016169.4(SUFU):c.183-20C>TGorlin syndrome [RCV002137524]likely benign10102509149102509149Human2name
152067502CV1566873single nucleotide variantNM_016169.4(SUFU):c.183-16G>AGorlin syndrome [RCV002091128]likely benign10102509153102509153Human2name
152141510CV1588467single nucleotide variantNM_016169.4(SUFU):c.183-17T>CGorlin syndrome [RCV002200633]likely benign10102509152102509152Human2name
152045492CV1588813single nucleotide variantNM_016169.4(SUFU):c.317+15C>AGorlin syndrome [RCV002188788]likely benign10102509318102509318Human2name
152091885CV1594369duplicationNM_016169.4(SUFU):c.454+11dupGorlin syndrome [RCV002171933]likely benign10102550116102550117Human2name
152143883CV1596839single nucleotide variantNM_016169.4(SUFU):c.911-17T>CGorlin syndrome [RCV002157130]likely benign10102599416102599416Human2name
152162398CV1606309single nucleotide variantNM_016169.4(SUFU):c.318-10T>CGorlin syndrome [RCV002181153]likely benign10102549960102549960Human2name
152142733CV1607404single nucleotide variantNM_016169.4(SUFU):c.684-14T>GGorlin syndrome [RCV002101001]likely benign10102593979102593979Human2name
152106247CV1609023single nucleotide variantNM_016169.4(SUFU):c.910+20A>GGorlin syndrome [RCV002096203]likely benign10102597313102597313Human2name
152055041CV1610075single nucleotide variantNM_016169.4(SUFU):c.757-17T>GGorlin syndrome [RCV002167325]likely benign10102597123102597123Human2name
152039372CV1617106single nucleotide variantNM_016169.4(SUFU):c.318-11A>CGorlin syndrome [RCV002087727]likely benign10102549959102549959Human2name
152160993CV1619260single nucleotide variantNM_016169.4(SUFU):c.684-17C>GGorlin syndrome [RCV002159635]|not specified [RCV005232791]likely benign10102593976102593976Human2name
152079803CV1620614single nucleotide variantNM_016169.4(SUFU):c.598-12C>TGorlin syndrome [RCV002112592]likely benign10102593624102593624Human2name
152080870CV1623151single nucleotide variantNM_016169.4(SUFU):c.757-20C>TGorlin syndrome [RCV002170517]likely benign10102597120102597120Human2name
152098732CV1627129single nucleotide variantNM_016169.4(SUFU):c.182+17G>TGorlin syndrome [RCV002095223]likely benign10102504351102504351Human2name
152070784CV1628487single nucleotide variantNM_016169.4(SUFU):c.1157+7G>CGorlin syndrome [RCV002169261]likely benign10102615409102615409Human2name
152097188CV1636620single nucleotide variantNM_016169.4(SUFU):c.597+18C>TGorlin syndrome [RCV002132790]likely benign10102592742102592742Human2name
152070073CV1640315deletionNM_016169.4(SUFU):c.684-11delGorlin syndrome [RCV002147955]likely benign10102593981102593981Human2name
152105870CV1640831single nucleotide variantNM_016169.4(SUFU):c.684-12C>TGorlin syndrome [RCV002096151]likely benign10102593981102593981Human2name
152123827CV1641189single nucleotide variantNM_016169.4(SUFU):c.182+20G>AGorlin syndrome [RCV002098531]likely benign10102504354102504354Human2name
152135694CV1642450single nucleotide variantNM_016169.4(SUFU):c.597+11G>AGorlin syndrome [RCV002119673]likely benign10102592735102592735Human2name
152063664CV1644807single nucleotide variantNM_016169.4(SUFU):c.1366-6C>TGorlin syndrome [RCV002147099]likely benign10102630060102630060Human2name
152028544CV1655287single nucleotide variantNM_016169.4(SUFU):c.455-18C>TGorlin syndrome [RCV002105271]likely benign10102592564102592564Human2name
152048614CV1656902single nucleotide variantNM_016169.4(SUFU):c.597+12G>TGorlin syndrome [RCV002189120]likely benign10102592736102592736Human2name
152113763CV1665481single nucleotide variantNM_016169.4(SUFU):c.757-15G>TGorlin syndrome [RCV002097196]likely benign10102597125102597125Human2name
8557518CV18610single nucleotide variantNM_016169.4(SUFU):c.1022+1G>ABasal cell nevus syndrome 2 [RCV003223388]|Gorlin syndrome [RCV000814945]|Hereditary cancer-predisposing syndrome [RCV002415392]|Medulloblastoma [RCV002291207]|SUFU-related disorder [RCV001270787]|not provided [RCV000524075]pathogenic|uncertain significance|other10102599545102599545Human5name , alternate_id
156153264CV1875254single nucleotide variantNM_016169.4(SUFU):c.597+19G>AGorlin syndrome [RCV003056611]likely benign10102592743102592743Human2name
156207210CV1932042single nucleotide variantNM_016169.4(SUFU):c.455-15G>AGorlin syndrome [RCV002643853]likely benign10102592567102592567Human2name
156404402CV1993273single nucleotide variantNM_016169.4(SUFU):c.317+11G>AGorlin syndrome [RCV002658043]likely benign10102509314102509314Human2name
156049959CV2006678single nucleotide variantNM_016169.4(SUFU):c.183-18G>CGorlin syndrome [RCV002659332]likely benign10102509151102509151Human2name
156395981CV2012290single nucleotide variantNM_016169.4(SUFU):c.911-10G>AGorlin syndrome [RCV002725550]likely benign10102599423102599423Human2name
156007471CV2015118single nucleotide variantNM_016169.4(SUFU):c.597+12G>CGorlin syndrome [RCV002690340]likely benign10102592736102592736Human2name
156171383CV2075584single nucleotide variantNM_016169.4(SUFU):c.684-20T>CGorlin syndrome [RCV002851541]likely benign10102593973102593973Human2name
156197841CV2095428single nucleotide variantNM_016169.4(SUFU):c.598-18T>CGorlin syndrome [RCV002917681]likely benign10102593618102593618Human2name
156126169CV2100545single nucleotide variantNM_016169.4(SUFU):c.598-12C>GGorlin syndrome [RCV002889760]likely benign10102593624102593624Human2name
156125355CV2104076single nucleotide variantNM_016169.4(SUFU):c.454+18G>TGorlin syndrome [RCV002914333]likely benign10102550124102550124Human2name
156030290CV2105525single nucleotide variantNM_016169.4(SUFU):c.455-13A>GGorlin syndrome [RCV002910036]likely benign10102592569102592569Human2name
156366495CV2116592single nucleotide variantNM_016169.4(SUFU):c.454+13G>CGorlin syndrome [RCV002941989]likely benign10102550119102550119Human2name
156107056CV2120947single nucleotide variantNM_016169.4(SUFU):c.910+15T>GGorlin syndrome [RCV002952953]likely benign10102597308102597308Human2name
156020041CV2141193single nucleotide variantNM_016169.4(SUFU):c.454+15C>TGorlin syndrome [RCV002976108]likely benign10102550121102550121Human2name
156302892CV2146458single nucleotide variantNM_016169.4(SUFU):c.317+15C>TGorlin syndrome [RCV003028179]likely benign10102509318102509318Human2name
155935129CV2149734single nucleotide variantNM_016169.4(SUFU):c.455-13A>TGorlin syndrome [RCV003013882]likely benign10102592569102592569Human2name
156272605CV2168185deletionNM_016169.4(SUFU):c.318-11delGorlin syndrome [RCV003027045]likely benign10102549959102549959Human2name
156215855CV2176621single nucleotide variantNM_016169.4(SUFU):c.756+19A>GGorlin syndrome [RCV003024995]likely benign10102594084102594084Human2name
156106213CV2180998single nucleotide variantNM_016169.4(SUFU):c.598-14A>GGorlin syndrome [RCV003054910]likely benign10102593622102593622Human2name
156096963CV2183623single nucleotide variantNM_016169.4(SUFU):c.597+15G>AGorlin syndrome [RCV003054576]uncertain significance10102592739102592739Human2name
156277595CV2188443single nucleotide variantNM_016169.4(SUFU):c.1157+1G>AGorlin syndrome [RCV003044669]likely pathogenic10102615403102615403Human2name
11544233CV253668single nucleotide variantNM_016169.4(SUFU):c.182+16C>TFamilial meningioma [RCV003316436]|Gorlin syndrome [RCV001815267]|Gorlin syndrome [RCV002058264]|Joubert syndrome 32 [RCV001815268]|not provided [RCV000588053]|not specified [RCV000243512]benign10102504350102504350Human4name
401862440CV2775302single nucleotide variantNM_016169.4(SUFU):c.1297-4A>GHereditary cancer-predisposing syndrome [RCV003343224]likely benign10102627171102627171Human1name
405022758CV3081859single nucleotide variantNM_016169.4(SUFU):c.1365+8T>CGorlin syndrome [RCV003785465]likely benign10102627251102627251Human2name
405024346CV3082022single nucleotide variantNM_016169.4(SUFU):c.684-11C>TGorlin syndrome [RCV003785628]likely benign10102593982102593982Human2name
402492829CV3082188single nucleotide variantNM_016169.4(SUFU):c.455-19C>TGorlin syndrome [RCV003787748]likely benign10102592563102592563Human2name
405011465CV3083437single nucleotide variantNM_016169.4(SUFU):c.910+13A>GGorlin syndrome [RCV003784384]likely benign10102597306102597306Human2name
404994678CV3085300single nucleotide variantNM_016169.4(SUFU):c.1365+6C>TGorlin syndrome [RCV003782831]uncertain significance10102627249102627249Human2name
405021361CV3085638single nucleotide variantNM_016169.4(SUFU):c.597+13T>CGorlin syndrome [RCV003785361]likely benign10102592737102592737Human2name
404999469CV3085915single nucleotide variantNM_016169.4(SUFU):c.182+18G>CGorlin syndrome [RCV003783285]likely benign10102504352102504352Human2name
402511270CV3089167single nucleotide variantNM_016169.4(SUFU):c.183-13T>CGorlin syndrome [RCV003780199]likely benign10102509156102509156Human2name
402510856CV3089256single nucleotide variantNM_016169.4(SUFU):c.756+12G>CGorlin syndrome [RCV003780288]likely benign10102594077102594077Human2name
402511397CV3091220single nucleotide variantNM_016169.4(SUFU):c.1297-7T>CGorlin syndrome [RCV003789678]likely benign10102627168102627168Human2name
402484830CV3093712deletionNM_016169.4(SUFU):c.683+10delGorlin syndrome [RCV003786912]likely benign10102593729102593729Human2name
405000873CV3095452deletionNM_016169.4(SUFU):c.318-19delGorlin syndrome [RCV003793755]likely benign10102549950102549950Human2name
404984890CV3096523single nucleotide variantNM_016169.4(SUFU):c.318-11A>GGorlin syndrome [RCV003792072]likely benign10102549959102549959Human2name
404979573CV3099443single nucleotide variantNM_016169.4(SUFU):c.683+10C>AGorlin syndrome [RCV003791271]likely benign10102593731102593731Human2name
405070388CV3099797single nucleotide variantNM_016169.4(SUFU):c.1365+7T>AGorlin syndrome [RCV003799512]likely benign10102627250102627250Human2name
405017837CV3100786single nucleotide variantNM_016169.4(SUFU):c.1296+5G>AGorlin syndrome [RCV003805534]uncertain significance10102617433102617433Human2name
405022259CV3101401single nucleotide variantNM_016169.4(SUFU):c.683+18G>AGorlin syndrome [RCV003805980]likely benign10102593739102593739Human2name
405179073CV3101521single nucleotide variantNM_016169.4(SUFU):c.597+19G>TGorlin syndrome [RCV003803734]likely benign10102592743102592743Human2name
405005040CV3102304single nucleotide variantNM_016169.4(SUFU):c.183-11G>TGorlin syndrome [RCV003804350]likely benign10102509158102509158Human2name
405073504CV3104043single nucleotide variantNM_016169.4(SUFU):c.683+19T>CGorlin syndrome [RCV003799713]likely benign10102593740102593740Human2name
405167949CV3104078single nucleotide variantNM_016169.4(SUFU):c.455-10T>AGorlin syndrome [RCV003802755]uncertain significance10102592572102592572Human2name
405017226CV3107081single nucleotide variantNM_016169.4(SUFU):c.756+10G>TGorlin syndrome [RCV003795252]|not specified [RCV005230574]likely benign|uncertain significance10102594075102594075Human2name
405166448CV3107140single nucleotide variantNM_016169.4(SUFU):c.455-20T>AGorlin syndrome [RCV003802631]likely benign10102592562102592562Human2name
405063271CV3108800single nucleotide variantNM_016169.4(SUFU):c.911-14T>CGorlin syndrome [RCV003809210]likely benign10102599419102599419Human2name
405010815CV3109215single nucleotide variantNM_016169.4(SUFU):c.1158-9C>TGorlin syndrome [RCV003804883]likely benign10102617281102617281Human2name
405158069CV3109353single nucleotide variantNM_016169.4(SUFU):c.317+12C>TGorlin syndrome [RCV003801876]likely benign10102509315102509315Human2name
405039973CV3112773single nucleotide variantNM_016169.4(SUFU):c.455-11C>GGorlin syndrome [RCV003807440]likely benign10102592571102592571Human2name
405043715CV3113016single nucleotide variantNM_016169.4(SUFU):c.318-17C>TGorlin syndrome [RCV003807683]likely benign10102549953102549953Human2name
11660957CV313979single nucleotide variantNM_016169.4(SUFU):c.910+14C>TGorlin syndrome [RCV002059517]|Medulloblastoma [RCV000371798]|Meningioma [RCV005355624]|SUFU-related disorder [RCV004549657]|not provided [RCV001579614]|not specified [RCV000612172]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance10102597307102597307Human6name , alternate_id
11645889CV319853single nucleotide variantNM_016169.4(SUFU):c.183-13T>GMedulloblastoma [RCV000267653]uncertain significance10102509156102509156Human2name
11644776CV319855single nucleotide variantNM_016169.4(SUFU):c.756+10G>CGorlin syndrome [RCV001408156]|Medulloblastoma [RCV000261878]likely benign|uncertain significance10102594075102594075Human3name
405853872CV3395292single nucleotide variantNM_016169.4(SUFU):c.1365+5G>CJoubert syndrome 32 [RCV004555429]uncertain significance10102627248102627248Human1name
405869816CV3399542deletionNM_016169.4(SUFU):c.1157+1delFamilial meningioma [RCV004573687]likely pathogenic10102615402102615402Human1name
405869817CV3399543single nucleotide variantNM_016169.4(SUFU):c.598-83G>AFamilial meningioma [RCV004573688]uncertain significance10102593553102593553Human1name
596946845CV3548679single nucleotide variantNM_016169.4(SUFU):c.1023-4A>Tnot provided [RCV004810507]uncertain significance10102615264102615264Humanname
597671359CV3611877single nucleotide variantNM_016169.4(SUFU):c.1157+4A>GHereditary cancer-predisposing syndrome [RCV004949245]uncertain significance10102615406102615406Human1name
597671517CV3611899duplicationNM_016169.4(SUFU):c.1022+2dupHereditary cancer-predisposing syndrome [RCV004949266]uncertain significance10102599545102599546Human1name
597833742CV3864156single nucleotide variantNM_016169.4(SUFU):c.454+17G>CGorlin syndrome [RCV005209792]likely benign10102550123102550123Human2name
597840908CV3864578single nucleotide variantNM_016169.4(SUFU):c.183-19T>CGorlin syndrome [RCV005211189]likely benign10102509150102509150Human2name
597895951CV3865592single nucleotide variantNM_016169.4(SUFU):c.756+17G>AGorlin syndrome [RCV005219570]likely benign10102594082102594082Human2name
597897438CV3866168single nucleotide variantNM_016169.4(SUFU):c.1365+2T>GGorlin syndrome [RCV005219785]likely pathogenic10102627245102627245Human2name
597869954CV3866225single nucleotide variantNM_016169.4(SUFU):c.756+16G>AGorlin syndrome [RCV005215566]likely benign10102594081102594081Human2name
597885416CV3866488single nucleotide variantNM_016169.4(SUFU):c.317+16C>GGorlin syndrome [RCV005217964]likely benign10102509319102509319Human2name
597838063CV3866921single nucleotide variantNM_016169.4(SUFU):c.684-19C>AGorlin syndrome [RCV005225913]likely benign10102593974102593974Human2name
597868089CV3869396single nucleotide variantNM_016169.4(SUFU):c.598-13T>CGorlin syndrome [RCV005215326]likely benign10102593623102593623Human2name
597855292CV3870624single nucleotide variantNM_016169.4(SUFU):c.317+14A>GGorlin syndrome [RCV005228825]likely benign10102509317102509317Human2name
597854083CV3873855single nucleotide variantNM_016169.4(SUFU):c.683+14C>AGorlin syndrome [RCV005228640]likely benign10102593735102593735Human2name
597863309CV3875358single nucleotide variantNM_016169.4(SUFU):c.598-14A>CGorlin syndrome [RCV005214535]likely benign10102593622102593622Human2name
597898943CV3876138single nucleotide variantNM_016169.4(SUFU):c.1365+5G>AGorlin syndrome [RCV005220028]uncertain significance10102627248102627248Human2name
597900793CV3876561single nucleotide variantNM_016169.4(SUFU):c.911-13G>TGorlin syndrome [RCV005220259]likely benign10102599420102599420Human2name
597850227CV3876940single nucleotide variantNM_016169.4(SUFU):c.757-15G>AGorlin syndrome [RCV005228167]likely benign10102597125102597125Human2name
597929096CV3879137single nucleotide variantNM_016169.4(SUFU):c.684-13T>CGorlin syndrome [RCV005224634]likely benign10102593980102593980Human2name
597911661CV3879569single nucleotide variantNM_016169.4(SUFU):c.454+11A>GGorlin syndrome [RCV005221970]likely benign10102550117102550117Human2name
598124203CV3881366single nucleotide variantNM_016169.4(SUFU):c.454+45G>Tnot specified [RCV005231791]likely benign10102550151102550151Humanname
598124204CV3881367single nucleotide variantNM_016169.4(SUFU):c.597+32T>Anot specified [RCV005231792]likely benign10102592756102592756Humanname
598124205CV3881368single nucleotide variantNM_016169.4(SUFU):c.598-22G>Anot specified [RCV005231793]likely benign10102593614102593614Humanname
598124206CV3881369single nucleotide variantNM_016169.4(SUFU):c.683+13G>Anot specified [RCV005231794]likely benign10102593734102593734Humanname
598124207CV3881370single nucleotide variantNM_016169.4(SUFU):c.683+33C>Tnot specified [RCV005231795]likely benign10102593754102593754Humanname
598124208CV3881371single nucleotide variantNM_016169.4(SUFU):c.684-33A>Gnot specified [RCV005231796]likely benign10102593960102593960Humanname
598252115CV3916242single nucleotide variantNM_016169.4(SUFU):c.1366-3C>AHereditary cancer-predisposing syndrome [RCV005278030]uncertain significance10102630063102630063Human1name
12889448CV397359single nucleotide variantNM_016169.4(SUFU):c.1023-3C>TGorlin syndrome [RCV000472764]|Gorlin syndrome [RCV000988447]|Hereditary cancer-predisposing syndrome [RCV001017042]likely benign|uncertain significance10102615265102615265Human3name
12889195CV397360single nucleotide variantNM_016169.4(SUFU):c.1023-2A>TGorlin syndrome [RCV000472343]|Joubert syndrome 32 [RCV003448312]likely pathogenic10102615266102615266Human3name
12884643CV397525single nucleotide variantNM_016169.4(SUFU):c.183-10T>CGorlin syndrome [RCV000463824]likely benign10102509159102509159Human2name
13473359CV460083single nucleotide variantNM_016169.4(SUFU):c.1023-8C>TGorlin syndrome [RCV000525343]likely benign10102615260102615260Human2name
13489726CV460091single nucleotide variantNM_016169.4(SUFU):c.1158-8A>GGorlin syndrome [RCV000555497]likely benign10102617282102617282Human2name
13540216CV502733single nucleotide variantNM_016169.4(SUFU):c.683+17G>AGorlin syndrome [RCV002063948]|not specified [RCV000614386]likely benign10102593738102593738Human2name
13537919CV503243single nucleotide variantNM_016169.4(SUFU):c.318-17C>AGorlin syndrome [RCV002063921]|SUFU-related disorder [RCV004547722]|not provided [RCV004705688]|not specified [RCV000611076]likely benign10102549953102549953Human3name , alternate_id
13526650CV503554single nucleotide variantNM_016169.4(SUFU):c.1157+6C>TGorlin syndrome [RCV001041817]|not specified [RCV000604414]likely benign|uncertain significance10102615408102615408Human2name
13608374CV525279single nucleotide variantNM_016169.4(SUFU):c.1157+3G>AGorlin syndrome [RCV000628496]|Hereditary cancer-predisposing syndrome [RCV001010035]benign|likely benign|uncertain significance10102615405102615405Human3name
14733919CV663996deletionNM_016169.4(SUFU):c.183-67delnot provided [RCV000837317]benign10102509102102509102Humanname
14733921CV664505single nucleotide variantNM_016169.4(SUFU):c.183-66C>Anot provided [RCV000837318]benign10102509103102509103Humanname
14732491CV664547single nucleotide variantNM_016169.4(SUFU):c.183-49G>Cnot provided [RCV000836612]benign10102509120102509120Humanname
15105285CV689970single nucleotide variantNM_016169.4(SUFU):c.1157+7G>AGorlin syndrome [RCV001437609]likely benign10102615409102615409Human2name
15141631CV695466single nucleotide variantNM_016169.4(SUFU):c.1366-8C>TGorlin syndrome [RCV000877709]|not provided [RCV004761845]likely benign|uncertain significance10102630058102630058Human2name
15151046CV730664single nucleotide variantNM_016169.4(SUFU):c.1366-4A>GGorlin syndrome [RCV001504972]|Hereditary cancer-predisposing syndrome [RCV002382023]likely benign10102630062102630062Human3name
15198967CV775592single nucleotide variantNM_016169.4(SUFU):c.1023-9G>CGorlin syndrome [RCV002544487]likely benign10102615259102615259Human2name
15173579CV775602single nucleotide variantNM_016169.4(SUFU):c.1158-4C>TGorlin syndrome [RCV001472907]likely benign10102617286102617286Human2name
25323751CV815424single nucleotide variantNM_016169.4(SUFU):c.1297-5C>TGorlin syndrome [RCV002549327]|Hereditary cancer-predisposing syndrome [RCV001010815]likely benign|uncertain significance10102627170102627170Human3name
26922332CV852544single nucleotide variantNM_016169.4(SUFU):c.1365+6C>AGorlin syndrome [RCV001061880]likely benign|uncertain significance10102627249102627249Human2name
38458870CV960712single nucleotide variantNM_016169.4(SUFU):c.1022+6T>CGorlin syndrome [RCV001246436]uncertain significance10102599550102599550Human2name
150424754CV1184313single nucleotide variantNM_016169.4(SUFU):c.1023-23C>Gnot provided [RCV001557081]|not specified [RCV005232625]benign|likely benign10102615245102615245Humanname
150427941CV1187540single nucleotide variantNM_016169.4(SUFU):c.318-245T>Cnot provided [RCV001561595]likely benign10102549725102549725Humanname
150404491CV1194291single nucleotide variantNM_016169.4(SUFU):c.757-120G>Anot provided [RCV001571181]likely benign10102597020102597020Humanname
150434461CV1204354single nucleotide variantNM_016169.4(SUFU):c.756+245T>Cnot provided [RCV001582103]likely benign10102594310102594310Humanname
150479890CV1207910single nucleotide variantNM_016169.4(SUFU):c.1157+75C>Tnot provided [RCV001590186]likely benign10102615477102615477Humanname
150483725CV1222349single nucleotide variantNM_016169.4(SUFU):c.1022+49T>Cnot provided [RCV001617352]benign10102599593102599593Human3name
150483725CV1222349single nucleotide variantNM_016169.4(SUFU):c.1022+49T>Cnot provided [RCV001617352]benign10102599593102599594Human3name
150484572CV1222524single nucleotide variantNM_016169.4(SUFU):c.1157+99G>Anot provided [RCV001617527]benign10102615501102615501Humanname
150431092CV1235332single nucleotide variantNM_016169.4(SUFU):c.183-300T>Cnot provided [RCV001641702]benign10102508869102508869Humanname
150473033CV1252340single nucleotide variantNM_016169.4(SUFU):c.183-126G>Cnot provided [RCV001671542]benign10102509043102509043Humanname
150474645CV1263390single nucleotide variantNM_016169.4(SUFU):c.911-337C>Tnot provided [RCV001684913]benign10102599096102599096Humanname
152038498CV1529806single nucleotide variantNM_016169.4(SUFU):c.1296+14T>GGorlin syndrome [RCV002187893]likely benign10102617442102617442Human2name
152166202CV1532570single nucleotide variantNM_016169.4(SUFU):c.1022+16T>CGorlin syndrome [RCV002204400]likely benign10102599560102599560Human2name
152079116CV1549917single nucleotide variantNM_016169.4(SUFU):c.1365+13G>CGorlin syndrome [RCV002192802]likely benign10102627256102627256Human2name
152031371CV1561148single nucleotide variantNM_016169.4(SUFU):c.1157+14C>AGorlin syndrome [RCV002106138]likely benign10102615416102615416Human2name
152139330CV1562797single nucleotide variantNM_016169.4(SUFU):c.1158-18C>GGorlin syndrome [RCV002100550]likely benign10102617272102617272Human2name
152100902CV1568394deletionNM_016169.4(SUFU):c.1022+20delGorlin syndrome [RCV002115329]likely benign10102599564102599564Human2name
152080620CV1589283single nucleotide variantNM_016169.4(SUFU):c.1366-18T>CGorlin syndrome [RCV002112701]likely benign10102630048102630048Human2name
152092462CV1596143single nucleotide variantNM_016169.4(SUFU):c.1297-13T>CGorlin syndrome [RCV002077894]|not provided [RCV003161337]likely benign|uncertain significance10102627162102627162Human2name
152166616CV1597077single nucleotide variantNM_016169.4(SUFU):c.1158-15T>CGorlin syndrome [RCV002204484]likely benign10102617275102617275Human2name
152036464CV1605301single nucleotide variantNM_016169.4(SUFU):c.1022+12A>GGorlin syndrome [RCV002087290]likely benign10102599556102599556Human2name
152079775CV1612592single nucleotide variantNM_016169.4(SUFU):c.1297-16C>TGorlin syndrome [RCV002170388]likely benign10102627159102627159Human2name
152120986CV1613124single nucleotide variantNM_016169.4(SUFU):c.1023-18C>AGorlin syndrome [RCV002154251]likely benign10102615250102615250Human2name
152041549CV1617902single nucleotide variantNM_016169.4(SUFU):c.1157+17T>GGorlin syndrome [RCV002206409]likely benign10102615419102615419Human2name
152048076CV1620004single nucleotide variantNM_016169.4(SUFU):c.1023-20T>CGorlin syndrome [RCV002207159]likely benign10102615248102615248Human2name
152131076CV1635318single nucleotide variantNM_016169.4(SUFU):c.1158-11C>TGorlin syndrome [RCV002099493]likely benign10102617279102617279Human2name
152134234CV1646643single nucleotide variantNM_016169.4(SUFU):c.1022+14T>CGorlin syndrome [RCV002137326]likely benign10102599558102599558Human2name
152043497CV1650875single nucleotide variantNM_016169.4(SUFU):c.1157+14C>TGorlin syndrome [RCV002165997]likely benign10102615416102615416Human2name
152166615CV1661338single nucleotide variantNM_016169.4(SUFU):c.1023-16T>CGorlin syndrome [RCV002124258]likely benign10102615252102615252Human2name
152078414CV1661342single nucleotide variantNM_016169.4(SUFU):c.1023-18C>TGorlin syndrome [RCV002130529]likely benign10102615250102615250Human2name
153001076CV1684324single nucleotide variantNM_016169.4(SUFU):c.1366-12C>GHereditary cancer-predisposing syndrome [RCV002255789]likely benign10102630054102630054Human1name
156308219CV1877933single nucleotide variantNM_016169.4(SUFU):c.1366-17G>CGorlin syndrome [RCV003062299]likely benign10102630049102630049Human2name
156004655CV1906288single nucleotide variantNM_016169.4(SUFU):c.1023-15G>AGorlin syndrome [RCV003098968]likely benign10102615253102615253Human2name
156345480CV1989071single nucleotide variantNM_016169.4(SUFU):c.1157+11C>TGorlin syndrome [RCV002631657]likely benign10102615413102615413Human2name
156388339CV1995993single nucleotide variantNM_016169.4(SUFU):c.1297-19C>GGorlin syndrome [RCV002654160]likely benign10102627156102627156Human2name
155950774CV2013973single nucleotide variantNM_016169.4(SUFU):c.1023-12C>TGorlin syndrome [RCV002686009]likely benign10102615256102615256Human2name
156029910CV2022609single nucleotide variantNM_016169.4(SUFU):c.1023-14T>CGorlin syndrome [RCV002735765]likely benign10102615254102615254Human2name
156254899CV2025897single nucleotide variantNM_016169.4(SUFU):c.1366-13G>CGorlin syndrome [RCV002746115]likely benign10102630053102630053Human2name
155950437CV2133117single nucleotide variantNM_016169.4(SUFU):c.1158-13T>GGorlin syndrome [RCV002994596]likely benign10102617277102617277Human2name
156093921CV2135686single nucleotide variantNM_016169.4(SUFU):c.1158-13T>AGorlin syndrome [RCV003001938]likely benign10102617277102617277Human2name
156097282CV2135877single nucleotide variantNM_016169.4(SUFU):c.1022+10C>TGorlin syndrome [RCV002979842]likely benign10102599554102599554Human2name
156026556CV2139211single nucleotide variantNM_016169.4(SUFU):c.1296+18C>AGorlin syndrome [RCV002998949]likely benign10102617446102617446Human2name
156324405CV2173800single nucleotide variantNM_016169.4(SUFU):c.1297-12G>AGorlin syndrome [RCV003046835]likely benign10102627163102627163Human2name
11550407CV253670single nucleotide variantNM_016169.4(SUFU):c.1365+19T>CFamilial meningioma [RCV003316435]|Gorlin syndrome [RCV001815265]|Gorlin syndrome [RCV002055052]|Joubert syndrome 32 [RCV001815266]|not provided [RCV000586015]|not specified [RCV000251718]benign10102627262102627262Human4name
405024975CV3082050single nucleotide variantNM_016169.4(SUFU):c.1022+15G>AGorlin syndrome [RCV003785656]likely benign10102599559102599559Human2name
402492463CV3082149single nucleotide variantNM_016169.4(SUFU):c.1023-19T>CGorlin syndrome [RCV003787709]likely benign10102615249102615249Human2name
402509474CV3086964single nucleotide variantNM_016169.4(SUFU):c.1365+13G>AGorlin syndrome [RCV003789474]likely benign10102627256102627256Human2name
404995811CV3088459duplicationNM_016169.4(SUFU):c.1296+18dupGorlin syndrome [RCV003793236]likely benign10102617445102617446Human2name
402501682CV3093376single nucleotide variantNM_016169.4(SUFU):c.1297-15C>TGorlin syndrome [RCV003788682]likely benign10102627160102627160Human2name
405153215CV3101990single nucleotide variantNM_016169.4(SUFU):c.1022+12A>CGorlin syndrome [RCV003801594]likely benign10102599556102599556Human2name
404977443CV3102688single nucleotide variantNM_016169.4(SUFU):c.1296+10C>TGorlin syndrome [RCV003790782]uncertain significance10102617438102617438Human2name
405014323CV3106620single nucleotide variantNM_016169.4(SUFU):c.1023-18C>GGorlin syndrome [RCV003794957]likely benign10102615250102615250Human2name
405110680CV3110661single nucleotide variantNM_016169.4(SUFU):c.1366-15T>AGorlin syndrome [RCV003813564]likely benign10102630051102630051Human2name
405011346CV3113910deletionNM_016169.4(SUFU):c.1157+13delGorlin syndrome [RCV003804932]likely benign10102615415102615415Human2name
596946951CV3547009single nucleotide variantNM_016169.4(SUFU):c.1296+74C>Tnot provided [RCV004810815]likely benign10102617502102617502Humanname
597835508CV3864499single nucleotide variantNM_016169.4(SUFU):c.1296+18C>TGorlin syndrome [RCV005210135]likely benign10102617446102617446Human2name
597920104CV3865423single nucleotide variantNM_016169.4(SUFU):c.1366-12C>TGorlin syndrome [RCV005223367]likely benign10102630054102630054Human2name
597882305CV3865869single nucleotide variantNM_016169.4(SUFU):c.1297-20C>AGorlin syndrome [RCV005217534]likely benign10102627155102627155Human2name
597921906CV3867222single nucleotide variantNM_016169.4(SUFU):c.1158-13T>CGorlin syndrome [RCV005223648]likely benign10102617277102617277Human2name
597895140CV3868742single nucleotide variantNM_016169.4(SUFU):c.1296+14T>AGorlin syndrome [RCV005219448]likely benign10102617442102617442Human2name
597926814CV3874038single nucleotide variantNM_016169.4(SUFU):c.1366-10C>AGorlin syndrome [RCV005224309]likely benign10102630056102630056Human2name
597836568CV3875584single nucleotide variantNM_016169.4(SUFU):c.1365+14A>GGorlin syndrome [RCV005225629]likely benign10102627257102627257Human2name
597924216CV3877259single nucleotide variantNM_016169.4(SUFU):c.1296+10C>AGorlin syndrome [RCV005223955]likely benign10102617438102617438Human2name
597912394CV3879676single nucleotide variantNM_016169.4(SUFU):c.1157+16C>GGorlin syndrome [RCV005222077]likely benign10102615418102615418Human2name
598124209CV3881372single nucleotide variantNM_016169.4(SUFU):c.1022+38C>Tnot specified [RCV005231797]likely benign10102599582102599582Humanname
598124210CV3881373single nucleotide variantNM_016169.4(SUFU):c.1023-28C>Tnot specified [RCV005231798]likely benign10102615240102615240Humanname
598124212CV3881375single nucleotide variantNM_016169.4(SUFU):c.1157+23A>Gnot specified [RCV005231800]likely benign10102615425102615425Humanname
12892146CV397369single nucleotide variantNM_016169.4(SUFU):c.1158-10C>TGorlin syndrome [RCV000457832]|not provided [RCV002481491]likely benign|uncertain significance10102617280102617280Human2name
14732489CV664499single nucleotide variantNM_016169.4(SUFU):c.182+189C>Tnot provided [RCV000836611]benign10102504523102504523Humanname
14732493CV664507single nucleotide variantNM_016169.4(SUFU):c.317+157G>Anot provided [RCV000836613]benign10102509460102509460Humanname
14732496CV664511single nucleotide variantNM_016169.4(SUFU):c.317+241G>Anot provided [RCV000836614]benign10102509544102509544Humanname
14737658CV664800single nucleotide variantNM_016169.4(SUFU):c.455-143C>Tnot provided [RCV000839017]likely benign10102592439102592439Humanname
150426667CV1187541single nucleotide variantNM_016169.4(SUFU):c.1296+177C>Tnot provided [RCV001559869]likely benign10102617605102617605Humanname
150407137CV1191025single nucleotide variantNM_016169.4(SUFU):c.1157+246T>Gnot provided [RCV001564925]likely benign10102615648102615648Humanname
150494378CV1282620single nucleotide variantNM_016169.4(SUFU):c.1158-101C>Tnot provided [RCV001717195]benign10102617189102617189Humanname
14732500CV663998single nucleotide variantNM_016169.4(SUFU):c.1023-210G>Cnot provided [RCV000836616]benign10102615058102615058Humanname
14733917CV664806single nucleotide variantNM_016169.4(SUFU):c.1365+103G>Tnot provided [RCV000837316]likely benign10102627346102627346Humanname
150331428CV1163532single nucleotide variantNM_016169.4(SUFU):c.1296+1565G>Anot provided [RCV001527797]benign10102618993102618993Human1name
150331428CV1163532single nucleotide variantNM_016169.4(SUFU):c.1296+1565G>Anot provided [RCV001527797]benign10102618993102618994Human1name
150413172CV1177246single nucleotide variantNM_016169.4(SUFU):c.1296+1355C>Tnot provided [RCV001547714]likely benign10102618783102618783Humanname
150422075CV1180636single nucleotide variantNM_016169.4(SUFU):c.1296+1793C>Tnot provided [RCV001552322]likely benign10102619221102619221Humanname
150416836CV1194292single nucleotide variantNM_016169.4(SUFU):c.1296+1423G>Anot provided [RCV001568513]likely benign10102618851102618851Humanname
150420735CV1197990single nucleotide variantNM_016169.4(SUFU):c.1296+1824C>Tnot provided [RCV001577739]likely benign10102619252102619252Humanname
150452348CV1220988single nucleotide variantNM_016169.4(SUFU):c.1296+1378G>Tnot provided [RCV001612082]benign10102618806102618806Humanname
156440800CV1940526microsatelliteNM_016169.4(SUFU):c.1157+20CA[4]Gorlin syndrome [RCV003110841]likely benign10102615421102615422Humanname
405015642CV3114377deletionNM_016169.4(SUFU):c.183-4_247delGorlin syndrome [RCV003805231]likely pathogenic10102509165102509233Human2name
21071989CV790938single nucleotide variantNM_016169.4(SUFU):c.1296+1638C>TGorlin syndrome [RCV000988448]uncertain significance10102619066102619066Human1name
34891641CV906284single nucleotide variantNM_016169.4(SUFU):c.1296+1635C>AGorlin syndrome [RCV001175210]likely pathogenic10102619063102619063Human1name
38495231CV960711duplicationNM_016169.4(SUFU):c.753_756+2dupGorlin syndrome [RCV001241813]uncertain significance10102594060102594061Human2name
329386122CV2433591deletionNM_016169.4(SUFU):c.739_756+12delHereditary cancer-predisposing syndrome [RCV003177383]likely pathogenic10102594043102594072Human1name
151784100CV1491980microsatelliteNM_016169.4(SUFU):c.454+6_454+8delGorlin syndrome [RCV002026542]uncertain significance10102550109102550111Humanname
156168563CV1993534deletionNM_016169.4(SUFU):c.454+4_454+5delGorlin syndrome [RCV002642651]uncertain significance10102550110102550111Human2name
11347038CV240721single nucleotide variantNM_016169.4(SUFU):c.6G>T (p.Ala2=)Gorlin syndrome [RCV000230739]|Hereditary cancer-predisposing syndrome [RCV000562975]|Medulloblastoma [RCV001106673]|not provided [RCV003422152]|not specified [RCV000609084]benign|likely benign|uncertain significance10102504158102504158Human4name
405168442CV3104119microsatelliteNM_016169.4(SUFU):c.454+20TGCTG[3]Gorlin syndrome [RCV003802796]likely benign10102550125102550126Humanname
11645392CV320446deletionNM_016169.4(SUFU):c.*3239_*3241delMedulloblastoma [RCV000265384]uncertain significance10102633392102633394Human2name
13477731CV460470single nucleotide variantNM_016169.4(SUFU):c.9G>A (p.Glu3=)Gorlin syndrome [RCV000549742]|Hereditary cancer-predisposing syndrome [RCV001019974]likely benign10102504161102504161Human3name
13534873CV503550single nucleotide variantNM_016169.4(SUFU):c.6G>A (p.Ala2=)Gorlin syndrome [RCV001037412]|Hereditary cancer-predisposing syndrome [RCV002377298]|not specified [RCV000607466]likely benign|uncertain significance10102504158102504158Human3name
127282003CV1098516single nucleotide variantNM_016169.4(SUFU):c.15G>A (p.Arg5=)Gorlin syndrome [RCV001447561]|Hereditary cancer-predisposing syndrome [RCV002405056]likely benign10102504167102504167Human3name
127291328CV1120105single nucleotide variantNM_016169.4(SUFU):c.27C>A (p.Ala9=)Gorlin syndrome [RCV001458686]|Hereditary cancer-predisposing syndrome [RCV002256783]likely benign|conflicting interpretations of pathogenicity|uncertain significance10102504179102504179Human3name
155733675CV1842681single nucleotide variantNM_016169.4(SUFU):c.18T>G (p.Pro6=)Hereditary cancer-predisposing syndrome [RCV002408252]likely benign10102504170102504170Human1name
11345674CV240722single nucleotide variantNM_016169.4(SUFU):c.12G>A (p.Leu4=)Gorlin syndrome [RCV000225937]|Hereditary cancer-predisposing syndrome [RCV000563973]|Medulloblastoma [RCV000307678]|Medulloblastoma [RCV005396812]|not provided [RCV001548626]|not specified [RCV000781897]benign|likely benign|uncertain significance10102504164102504164Human4name
401859670CV2757107single nucleotide variantNM_016169.4(SUFU):c.27C>T (p.Ala9=)Gorlin syndrome [RCV005209616]|Hereditary cancer-predisposing syndrome [RCV003341960]likely benign10102504179102504179Human3name
405708095CV3384310single nucleotide variantNM_016169.4(SUFU):c.18T>C (p.Pro6=)Hereditary cancer-predisposing syndrome [RCV004522040]likely benign10102504170102504170Human1name
405708119CV3384313single nucleotide variantNM_016169.4(SUFU):c.24C>T (p.Gly8=)Hereditary cancer-predisposing syndrome [RCV004522043]likely benign10102504176102504176Human1name
597844310CV3878753single nucleotide variantNM_016169.4(SUFU):c.21C>T (p.Ser7=)Gorlin syndrome [RCV005227083]likely benign10102504173102504173Human2name
12888341CV397089deletionNM_016169.4(SUFU):c.757-11_757-7delGorlin syndrome [RCV000470693]|not provided [RCV005365310]likely benign|uncertain significance10102597126102597130Human2name
127242008CV1076872single nucleotide variantNM_016169.4(SUFU):c.66C>A (p.Ala22=)Gorlin syndrome [RCV001415898]likely benign10102504218102504218Human2name
127250836CV1076873single nucleotide variantNM_016169.4(SUFU):c.87C>T (p.Leu29=)Gorlin syndrome [RCV001417661]|Hereditary cancer-predisposing syndrome [RCV002377656]likely benign10102504239102504239Human3name
127246504CV1098517single nucleotide variantNM_016169.4(SUFU):c.30C>T (p.Pro10=)Gorlin syndrome [RCV001435425]|Hereditary cancer-predisposing syndrome [RCV004671396]likely benign10102504182102504182Human3name
127260553CV1098518single nucleotide variantNM_016169.4(SUFU):c.45C>T (p.Pro15=)Gorlin syndrome [RCV001427876]|Hereditary cancer-predisposing syndrome [RCV002341927]|not provided [RCV004770151]likely benign|uncertain significance10102504197102504197Human3name
127265406CV1098519single nucleotide variantNM_016169.4(SUFU):c.54T>C (p.Pro18=)Gorlin syndrome [RCV001429057]|Hereditary cancer-predisposing syndrome [RCV002350840]likely benign10102504206102504206Human3name
127331147CV1120106single nucleotide variantNM_016169.4(SUFU):c.84G>C (p.Ser28=)Gorlin syndrome [RCV001471353]|Hereditary cancer-predisposing syndrome [RCV002414131]likely benign10102504236102504236Human3name
127320362CV1140942single nucleotide variantNM_016169.4(SUFU):c.66C>T (p.Ala22=)Gorlin syndrome [RCV001484158]|Hereditary cancer-predisposing syndrome [RCV002368486]likely benign10102504218102504218Human3name
152086038CV1531653duplicationNM_016169.4(SUFU):c.454+13_454+14dupGorlin syndrome [RCV002076995]likely benign10102550117102550118Human2name
152064095CV1554574single nucleotide variantNM_016169.4(SUFU):c.63T>C (p.Thr21=)Gorlin syndrome [RCV002190903]likely benign10102504215102504215Human2name
152073789CV1556711deletionNM_016169.4(SUFU):c.183-20_183-19delGorlin syndrome [RCV002111820]likely benign10102509149102509150Human2name
152116556CV1569647single nucleotide variantNM_016169.4(SUFU):c.42G>A (p.Ala14=)Gorlin syndrome [RCV002117270]likely benign10102504194102504194Human2name
152080266CV1623056single nucleotide variantNM_016169.4(SUFU):c.48G>T (p.Pro16=)Gorlin syndrome [RCV002170444]|Hereditary cancer-predisposing syndrome [RCV002337197]likely benign10102504200102504200Human3name
152135546CV1638584single nucleotide variantNM_016169.4(SUFU):c.36C>G (p.Pro12=)Gorlin syndrome [RCV002083454]likely benign10102504188102504188Human2name
152147490CV1653679single nucleotide variantNM_016169.4(SUFU):c.33C>T (p.Gly11=)Gorlin syndrome [RCV002139019]likely benign10102504185102504185Human2name
152126087CV1665877single nucleotide variantNM_016169.4(SUFU):c.78C>T (p.Phe26=)Gorlin syndrome [RCV002198690]likely benign10102504230102504230Human2name
155696906CV1793905single nucleotide variantNM_016169.4(SUFU):c.39C>T (p.Thr13=)Hereditary cancer-predisposing syndrome [RCV002375631]likely benign10102504191102504191Human1name
155738462CV1797914single nucleotide variantNM_016169.4(SUFU):c.42G>C (p.Ala14=)Hereditary cancer-predisposing syndrome [RCV002331882]likely benign10102504194102504194Human1name
155734415CV1798869single nucleotide variantNM_016169.4(SUFU):c.48G>C (p.Pro16=)Gorlin syndrome [RCV003775993]|Hereditary cancer-predisposing syndrome [RCV002340638]|SUFU-related disorder [RCV004548279]benign|likely benign10102504200102504200Human4name , alternate_id
155738669CV1805225single nucleotide variantNM_016169.4(SUFU):c.45C>A (p.Pro15=)Gorlin syndrome [RCV003775925]|Hereditary cancer-predisposing syndrome [RCV002342349]likely benign10102504197102504197Human3name
155674550CV1810159single nucleotide variantNM_016169.4(SUFU):c.54T>A (p.Pro18=)Hereditary cancer-predisposing syndrome [RCV002351660]likely benign10102504206102504206Human1name
155704256CV1810655single nucleotide variantNM_016169.4(SUFU):c.57C>A (p.Gly19=)Hereditary cancer-predisposing syndrome [RCV002359844]likely benign10102504209102504209Human1name
155705516CV1811231single nucleotide variantNM_016169.4(SUFU):c.60G>A (p.Pro20=)Hereditary cancer-predisposing syndrome [RCV002360158]likely benign10102504212102504212Human1name
155705539CV1811238single nucleotide variantNM_016169.4(SUFU):c.60G>C (p.Pro20=)Gorlin syndrome [RCV005215839]|Hereditary cancer-predisposing syndrome [RCV002360165]|not provided [RCV003426397]likely benign10102504212102504212Human3name
155710445CV1811662single nucleotide variantNM_016169.4(SUFU):c.63T>G (p.Thr21=)Hereditary cancer-predisposing syndrome [RCV002361581]likely benign10102504215102504215Human1name
155698088CV1816835single nucleotide variantNM_016169.4(SUFU):c.81T>C (p.Ala27=)Hereditary cancer-predisposing syndrome [RCV002427932]likely benign10102504233102504233Human1name
155698117CV1816840single nucleotide variantNM_016169.4(SUFU):c.81T>G (p.Ala27=)Gorlin syndrome [RCV003776487]|Hereditary cancer-predisposing syndrome [RCV002427937]likely benign10102504233102504233Human3name
155726987CV1822369single nucleotide variantNM_016169.4(SUFU):c.69C>G (p.Pro23=)Gorlin syndrome [RCV003776332]|Hereditary cancer-predisposing syndrome [RCV002364739]likely benign10102504221102504221Human3name
155729028CV1822720single nucleotide variantNM_016169.4(SUFU):c.72G>C (p.Pro24=)Hereditary cancer-predisposing syndrome [RCV002382778]likely benign10102504224102504224Human1name
155949251CV2123373single nucleotide variantNM_016169.4(SUFU):c.66C>G (p.Ala22=)Gorlin syndrome [RCV002971765]|Hereditary cancer-predisposing syndrome [RCV003170761]|SUFU-related disorder [RCV004550323]likely benign10102504218102504218Human4name , alternate_id
156375015CV2190932deletionNM_016169.4(SUFU):c.318-22_318-19delGorlin syndrome [RCV003050028]likely benign10102549948102549951Human2name
401778472CV2732532single nucleotide variantNM_016169.4(SUFU):c.2T>A (p.Met1Lys)Hereditary cancer-predisposing syndrome [RCV003306784]likely pathogenic|uncertain significance10102504154102504154Human1name
401778482CV2732543single nucleotide variantNM_016169.4(SUFU):c.36C>T (p.Pro12=)Gorlin syndrome [RCV003777238]|Hereditary cancer-predisposing syndrome [RCV003306789]likely benign10102504188102504188Human3name
401899399CV2790332single nucleotide variantNM_016169.4(SUFU):c.51C>T (p.Ala17=)Gorlin syndrome [RCV005216075]|Hereditary cancer-predisposing syndrome [RCV003377586]likely benign10102504203102504203Human3name
405033569CV3098744duplicationNM_016169.4(SUFU):c.683+21_683+24dupGorlin syndrome [RCV003806870]likely benign10102593740102593741Human2name
405708215CV3384326single nucleotide variantNM_016169.4(SUFU):c.57C>T (p.Gly19=)Hereditary cancer-predisposing syndrome [RCV004522056]likely benign10102504209102504209Human1name
597735627CV3721364single nucleotide variantNM_016169.4(SUFU):c.9G>C (p.Glu3Asp)Hereditary cancer-predisposing syndrome [RCV005291138]|Medulloblastoma [RCV005037486]uncertain significance10102504161102504161Human3name
597841924CV3864954single nucleotide variantNM_016169.4(SUFU):c.51C>G (p.Ala17=)Gorlin syndrome [RCV005211402]likely benign10102504203102504203Human2name
597882083CV3865811single nucleotide variantNM_016169.4(SUFU):c.5C>G (p.Ala2Gly)Gorlin syndrome [RCV005217476]uncertain significance10102504157102504157Human2name
597867869CV3869360deletionNM_016169.4(SUFU):c.1366-7_1366-5delGorlin syndrome [RCV005215290]likely benign10102630057102630059Human2name
597903427CV3873207single nucleotide variantNM_016169.4(SUFU):c.30C>A (p.Pro10=)Gorlin syndrome [RCV005220645]likely benign10102504182102504182Human2name
597840331CV3873498deletionNM_016169.4(SUFU):c.756+20_756+21delGorlin syndrome [RCV005226325]likely benign10102594083102594084Human2name
597859974CV3874708single nucleotide variantNM_016169.4(SUFU):c.2T>C (p.Met1Thr)Gorlin syndrome [RCV005214049]uncertain significance10102504154102504154Human2name
598221208CV3916250single nucleotide variantNM_016169.4(SUFU):c.39C>G (p.Thr13=)Hereditary cancer-predisposing syndrome [RCV005293593]likely benign10102504191102504191Human1name
13490991CV459605single nucleotide variantNM_016169.4(SUFU):c.96G>C (p.Pro32=)Gorlin syndrome [RCV000556388]|Hereditary cancer-predisposing syndrome [RCV001019656]|not provided [RCV004808745]likely benign10102504248102504248Human3name
13471376CV460471single nucleotide variantNM_016169.4(SUFU):c.84G>T (p.Ser28=)Gorlin syndrome [RCV000544818]|Hereditary cancer-predisposing syndrome [RCV000563739]likely benign10102504236102504236Human3name
13820364CV566122single nucleotide variantNM_016169.4(SUFU):c.8A>G (p.Glu3Gly)Gorlin syndrome [RCV000694830]uncertain significance10102504160102504160Human2name
14745248CV638673single nucleotide variantNM_016169.4(SUFU):c.5C>T (p.Ala2Val)Gorlin syndrome [RCV000824588]uncertain significance10102504157102504157Human2name
15116706CV684126single nucleotide variantNM_016169.4(SUFU):c.90T>C (p.Phe30=)Gorlin syndrome [RCV000860993]|Hereditary cancer-predisposing syndrome [RCV002372391]likely benign10102504242102504242Human3name
15147542CV737310single nucleotide variantNM_016169.4(SUFU):c.60G>T (p.Pro20=)Gorlin syndrome [RCV001429610]|Hereditary cancer-predisposing syndrome [RCV002354731]likely benign10102504212102504212Human3name
15147547CV737311single nucleotide variantNM_016169.4(SUFU):c.69C>T (p.Pro23=)Gorlin syndrome [RCV000900542]|Hereditary cancer-predisposing syndrome [RCV002363348]likely benign10102504221102504221Human3name
26915817CV836565single nucleotide variantNM_016169.4(SUFU):c.72G>A (p.Pro24=)Gorlin syndrome [RCV001041572]|Hereditary cancer-predisposing syndrome [RCV002379503]likely benign|uncertain significance10102504224102504224Human3name
38488309CV934928single nucleotide variantNM_016169.4(SUFU):c.96G>A (p.Pro32=)Gorlin syndrome [RCV001209691]|Hereditary cancer-predisposing syndrome [RCV002375152]likely benign|uncertain significance10102504248102504248Human3name
126740491CV1008846single nucleotide variantNM_016169.4(SUFU):c.16C>T (p.Pro6Ser)Familial meningioma [RCV004570789]|Gorlin syndrome [RCV001325209]|Hereditary cancer-predisposing syndrome [RCV002412042]uncertain significance10102504168102504168Human4name
126920869CV1046398single nucleotide variantNM_016169.4(SUFU):c.17C>G (p.Pro6Arg)Gorlin syndrome [RCV001363131]uncertain significance10102504169102504169Human2name
127253101CV1076874single nucleotide variantNM_016169.4(SUFU):c.255C>G (p.Pro85=)Gorlin syndrome [RCV001418211]likely benign10102509241102509241Human2name
127296663CV1120107single nucleotide variantNM_016169.4(SUFU):c.270C>T (p.Tyr90=)Gorlin syndrome [RCV001452792]|Hereditary cancer-predisposing syndrome [RCV004951780]likely benign10102509256102509256Human3name
127301397CV1140943single nucleotide variantNM_016169.4(SUFU):c.129C>T (p.Arg43=)Gorlin syndrome [RCV001478685]|Hereditary cancer-predisposing syndrome [RCV002384776]|not provided [RCV003426138]likely benign10102504281102504281Human3name
127302875CV1140944single nucleotide variantNM_016169.4(SUFU):c.171C>T (p.Ile57=)Gorlin syndrome [RCV001499206]|Hereditary cancer-predisposing syndrome [RCV004946690]likely benign10102504323102504323Human3name
127323772CV1140945single nucleotide variantNM_016169.4(SUFU):c.258G>A (p.Glu86=)Gorlin syndrome [RCV001485317]|Hereditary cancer-predisposing syndrome [RCV003160960]|not provided [RCV003992527]likely benign10102509244102509244Human3name
151772133CV1417908single nucleotide variantNM_016169.4(SUFU):c.19A>G (p.Ser7Gly)Gorlin syndrome [RCV001874556]uncertain significance10102504171102504171Human2name
151879587CV1490886deletionNM_016169.4(SUFU):c.53del (p.Pro18fs)Gorlin syndrome [RCV001940824]pathogenic10102504202102504202Human2name
151765180CV1491147duplicationNM_016169.4(SUFU):c.73dup (p.Ala25fs)Gorlin syndrome [RCV001949599]pathogenic10102504223102504224Human2name
151796593CV1499651single nucleotide variantNM_016169.4(SUFU):c.21C>A (p.Ser7Arg)Gorlin syndrome [RCV001917319]|Hereditary cancer-predisposing syndrome [RCV002425170]uncertain significance10102504173102504173Human3name
152174438CV1567104single nucleotide variantNM_016169.4(SUFU):c.192C>T (p.Gly64=)Gorlin syndrome [RCV002163158]likely benign10102509178102509178Human2name
152104413CV1574780single nucleotide variantNM_016169.4(SUFU):c.207C>T (p.Asp69=)Gorlin syndrome [RCV002095957]likely benign10102509193102509193Human2name
152096270CV1586853single nucleotide variantNM_016169.4(SUFU):c.189T>C (p.Gly63=)Gorlin syndrome [RCV002078392]|Hereditary cancer-predisposing syndrome [RCV004045715]likely benign10102509175102509175Human3name
152063321CV1587768single nucleotide variantNM_016169.4(SUFU):c.129C>G (p.Arg43=)Gorlin syndrome [RCV002090529]|Hereditary cancer-predisposing syndrome [RCV004681435]likely benign10102504281102504281Human3name
152056187CV1588161single nucleotide variantNM_016169.4(SUFU):c.240T>G (p.Pro80=)Gorlin syndrome [RCV002189990]likely benign10102509226102509226Human2name
152056761CV1647296single nucleotide variantNM_016169.4(SUFU):c.285G>A (p.Leu95=)Gorlin syndrome [RCV002208190]|Hereditary cancer-predisposing syndrome [RCV005288738]likely benign10102509271102509271Human3name
152144734CV1658196single nucleotide variantNM_016169.4(SUFU):c.285G>T (p.Leu95=)Gorlin syndrome [RCV002219861]likely benign10102509271102509271Human2name
155666951CV1793245single nucleotide variantNM_016169.4(SUFU):c.114C>T (p.Tyr38=)Hereditary cancer-predisposing syndrome [RCV002452504]likely benign10102504266102504266Human1name
155745745CV1802977single nucleotide variantNM_016169.4(SUFU):c.11T>G (p.Leu4Arg)Gorlin syndrome [RCV003776100]|Hereditary cancer-predisposing syndrome [RCV002347186]|not specified [RCV005232959]uncertain significance10102504163102504163Human3name
155732964CV1826539single nucleotide variantNM_016169.4(SUFU):c.102G>A (p.Leu34=)Hereditary cancer-predisposing syndrome [RCV002383496]likely benign10102504254102504254Human1name
155712036CV1827939single nucleotide variantNM_016169.4(SUFU):c.165C>G (p.Thr55=)Hereditary cancer-predisposing syndrome [RCV002403793]likely benign10102504317102504317Human1name
155671379CV1829230single nucleotide variantNM_016169.4(SUFU):c.132T>G (p.Leu44=)Hereditary cancer-predisposing syndrome [RCV002385908]likely benign10102504284102504284Human1name
155709788CV1832717single nucleotide variantNM_016169.4(SUFU):c.138T>A (p.Pro46=)Hereditary cancer-predisposing syndrome [RCV002396655]likely benign10102504290102504290Human1name
155709841CV1832724single nucleotide variantNM_016169.4(SUFU):c.138T>G (p.Pro46=)Hereditary cancer-predisposing syndrome [RCV002396662]likely benign10102504290102504290Human1name
155707338CV1833402single nucleotide variantNM_016169.4(SUFU):c.153G>A (p.Pro51=)Gorlin syndrome [RCV003774375]|Hereditary cancer-predisposing syndrome [RCV002403140]likely benign|uncertain significance10102504305102504305Human3name
155707363CV1833406single nucleotide variantNM_016169.4(SUFU):c.153G>C (p.Pro51=)Gorlin syndrome [RCV005227728]|Hereditary cancer-predisposing syndrome [RCV002403144]likely benign10102504305102504305Human3name
155707388CV1833411single nucleotide variantNM_016169.4(SUFU):c.153G>T (p.Pro51=)Hereditary cancer-predisposing syndrome [RCV002403149]likely benign10102504305102504305Human1name
155720180CV1835744single nucleotide variantNM_016169.4(SUFU):c.129C>A (p.Arg43=)Hereditary cancer-predisposing syndrome [RCV002380745]likely benign10102504281102504281Human1name
155703616CV1838478single nucleotide variantNM_016169.4(SUFU):c.105C>T (p.His35=)Gorlin syndrome [RCV003774492]|Hereditary cancer-predisposing syndrome [RCV002401849]likely benign10102504257102504257Human3name
155705493CV1841061single nucleotide variantNM_016169.4(SUFU):c.108C>T (p.Ala36=)Hereditary cancer-predisposing syndrome [RCV002445995]likely benign10102504260102504260Human1name
155668321CV1846581single nucleotide variantNM_016169.4(SUFU):c.201C>T (p.Pro67=)Gorlin syndrome [RCV003774599]|Hereditary cancer-predisposing syndrome [RCV002419550]likely benign10102509187102509187Human3name
155684841CV1850762single nucleotide variantNM_016169.4(SUFU):c.228T>C (p.Asn76=)Hereditary cancer-predisposing syndrome [RCV002457475]likely benign10102509214102509214Human1name
155692994CV1851238single nucleotide variantNM_016169.4(SUFU):c.240T>C (p.Pro80=)Hereditary cancer-predisposing syndrome [RCV002459727]likely benign10102509226102509226Human1name
155724406CV1851715single nucleotide variantNM_016169.4(SUFU):c.252C>T (p.Ile84=)Hereditary cancer-predisposing syndrome [RCV002433134]likely benign10102509238102509238Human1name
8557520CV18612deletionNM_016169.4(SUFU):c.71del (p.Pro24fs)Basal cell nevus syndrome 2 [RCV003227597]|Gorlin syndrome [RCV001385138]|Hereditary cancer-predisposing syndrome [RCV003298027]|Medulloblastoma [RCV002291208]|not provided [RCV001573665]pathogenic10102504217102504217Human5name
8557521CV18613duplicationNM_016169.4(SUFU):c.71dup (p.Ala25fs)Gorlin syndrome [RCV001041597]|Hereditary cancer-predisposing syndrome [RCV002371757]|Medulloblastoma [RCV001523824]pathogenic10102504216102504217Human4name
156114908CV1952265single nucleotide variantNM_016169.4(SUFU):c.120G>A (p.Glu40=)Gorlin syndrome [RCV002571634]likely benign10102504272102504272Human2name
156250190CV1969713single nucleotide variantNM_016169.4(SUFU):c.138T>C (p.Pro46=)Gorlin syndrome [RCV002597444]|Hereditary cancer-predisposing syndrome [RCV003308164]likely benign10102504290102504290Human3name
155945177CV2032659single nucleotide variantNM_016169.4(SUFU):c.111C>T (p.Ile37=)Gorlin syndrome [RCV002730360]likely benign10102504263102504263Human2name
155981499CV2070140single nucleotide variantNM_016169.4(SUFU):c.21C>G (p.Ser7Arg)Gorlin syndrome [RCV002842542]|Hereditary cancer-predisposing syndrome [RCV005288826]uncertain significance10102504173102504173Human3name
155945821CV2139432deletionNM_016169.4(SUFU):c.95del (p.Pro32fs)Gorlin syndrome [RCV002994335]pathogenic10102504243102504243Human2name
11349081CV240726single nucleotide variantNM_016169.4(SUFU):c.198C>T (p.Asp66=)Gorlin syndrome [RCV000229168]|Hereditary cancer-predisposing syndrome [RCV001013962]likely benign10102509184102509184Human3name
11347767CV240727single nucleotide variantNM_016169.4(SUFU):c.210T>C (p.Tyr70=)Gorlin syndrome [RCV000233220]|Hereditary cancer-predisposing syndrome [RCV000569216]|Medulloblastoma [RCV000301743]|Medulloblastoma [RCV005396813]|not provided [RCV001538677]|not specified [RCV000781898]benign|likely benign|uncertain significance10102509196102509196Human4name
329386151CV2433602single nucleotide variantNM_016169.4(SUFU):c.213T>A (p.Val71=)Hereditary cancer-predisposing syndrome [RCV003177394]likely benign10102509199102509199Human1name
401778478CV2732539single nucleotide variantNM_016169.4(SUFU):c.165C>T (p.Thr55=)Hereditary cancer-predisposing syndrome [RCV003306787]likely benign10102504317102504317Human1name
402499739CV3092982single nucleotide variantNM_016169.4(SUFU):c.261C>T (p.His87=)Gorlin syndrome [RCV003788446]likely benign10102509247102509247Human2name
405004781CV3102285single nucleotide variantNM_016169.4(SUFU):c.231G>T (p.Val77=)Gorlin syndrome [RCV003804331]likely benign10102509217102509217Human2name
11659640CV319852single nucleotide variantNM_016169.4(SUFU):c.180C>T (p.Tyr60=)Medulloblastoma [RCV000360048]uncertain significance10102504332102504332Human2name
597671382CV3611880single nucleotide variantNM_016169.4(SUFU):c.195A>G (p.Pro65=)Hereditary cancer-predisposing syndrome [RCV004949248]likely benign10102509181102509181Human1name
597671557CV3611905deletionNM_016169.4(SUFU):c.37del (p.Thr13fs)Hereditary cancer-predisposing syndrome [RCV004949272]pathogenic10102504189102504189Human1name
597883429CV3866000single nucleotide variantNM_016169.4(SUFU):c.165C>A (p.Thr55=)Gorlin syndrome [RCV005217665]likely benign10102504317102504317Human2name
597836207CV3874371single nucleotide variantNM_016169.4(SUFU):c.150C>T (p.Asn50=)Gorlin syndrome [RCV005210291]likely benign10102504302102504302Human2name
13471475CV459830single nucleotide variantNM_016169.4(SUFU):c.252C>A (p.Ile84=)Gorlin syndrome [RCV000546878]|Hereditary cancer-predisposing syndrome [RCV002456029]likely benign10102509238102509238Human3name
13495186CV460481single nucleotide variantNM_016169.4(SUFU):c.279C>T (p.Phe93=)Gorlin syndrome [RCV000559441]|Hereditary cancer-predisposing syndrome [RCV001016370]likely benign10102509265102509265Human3name
13502691CV475238single nucleotide variantNM_016169.4(SUFU):c.126C>G (p.Arg42=)Gorlin syndrome [RCV000628517]|Hereditary cancer-predisposing syndrome [RCV000575477]likely benign10102504278102504278Human3name
13608458CV525250single nucleotide variantNM_016169.4(SUFU):c.135C>T (p.Tyr45=)Gorlin syndrome [RCV000628524]|Hereditary cancer-predisposing syndrome [RCV004025323]likely benign10102504287102504287Human3name
13608435CV525254single nucleotide variantNM_016169.4(SUFU):c.147G>A (p.Pro49=)Gorlin syndrome [RCV000628516]|Hereditary cancer-predisposing syndrome [RCV004025322]likely benign10102504299102504299Human3name
13608446CV525260single nucleotide variantNM_016169.4(SUFU):c.255C>T (p.Pro85=)Gorlin syndrome [RCV000628520]|Hereditary cancer-predisposing syndrome [RCV001015930]|not provided [RCV003424197]benign|likely benign10102509241102509241Human3name
13608418CV525443single nucleotide variantNM_016169.4(SUFU):c.26C>T (p.Ala9Val)Familial meningioma [RCV003459485]|Gorlin syndrome [RCV000628510]|Hereditary cancer-predisposing syndrome [RCV001016349]|Medulloblastoma [RCV005027739]|not provided [RCV003237957]likely benign|uncertain significance10102504178102504178Human5name
13811690CV563517single nucleotide variantNM_016169.4(SUFU):c.22G>T (p.Gly8Cys)Gorlin syndrome [RCV000688921]uncertain significance10102504174102504174Human2name
15110764CV692762single nucleotide variantNM_016169.4(SUFU):c.123C>T (p.Cys41=)Gorlin syndrome [RCV001480842]|Hereditary cancer-predisposing syndrome [RCV002372468]likely benign10102504275102504275Human3name
15104107CV783523single nucleotide variantNM_016169.4(SUFU):c.156C>T (p.Leu52=)Gorlin syndrome [RCV002066454]|Hereditary cancer-predisposing syndrome [RCV003346237]likely benign10102504308102504308Human3name
25325339CV809814single nucleotide variantNM_016169.4(SUFU):c.159G>A (p.Gln53=)Hereditary cancer-predisposing syndrome [RCV001012298]likely benign10102504311102504311Human1name
25327236CV809815single nucleotide variantNM_016169.4(SUFU):c.202T>C (p.Leu68=)Gorlin syndrome [RCV002068880]|Hereditary cancer-predisposing syndrome [RCV001014140]likely benign10102509188102509188Human3name
25327848CV809816single nucleotide variantNM_016169.4(SUFU):c.213T>C (p.Val71=)Hereditary cancer-predisposing syndrome [RCV001014588]likely benign10102509199102509199Human1name
25328722CV809819single nucleotide variantNM_016169.4(SUFU):c.267C>T (p.His89=)Gorlin syndrome [RCV001414458]|Hereditary cancer-predisposing syndrome [RCV001016309]likely benign10102509253102509253Human3name
25328964CV809820single nucleotide variantNM_016169.4(SUFU):c.285G>C (p.Leu95=)Gorlin syndrome [RCV001462554]|Hereditary cancer-predisposing syndrome [RCV001016803]likely benign10102509271102509271Human3name
38481553CV925724single nucleotide variantNM_016169.4(SUFU):c.26C>A (p.Ala9Asp)Gorlin syndrome [RCV001218056]|Hereditary cancer-predisposing syndrome [RCV002429927]uncertain significance10102504178102504178Human3name
38458175CV946792single nucleotide variantNM_016169.4(SUFU):c.13C>T (p.Arg5Trp)Familial meningioma [RCV003462780]|Gorlin syndrome [RCV001228839]|Hereditary cancer-predisposing syndrome [RCV002393565]uncertain significance10102504165102504165Human4name
126751192CV1008847single nucleotide variantNM_016169.4(SUFU):c.67C>G (p.Pro23Ala)Gorlin syndrome [RCV001316062]|Hereditary cancer-predisposing syndrome [RCV004951510]uncertain significance10102504219102504219Human3name
126744869CV1008852single nucleotide variantNM_016169.4(SUFU):c.318G>A (p.Glu106=)Gorlin syndrome [RCV001325815]|Hereditary cancer-predisposing syndrome [RCV002322254]likely benign|uncertain significance10102549970102549970Human3name
126748918CV1008855single nucleotide variantNM_016169.4(SUFU):c.756A>G (p.Gln252=)Gorlin syndrome [RCV001326432]|Hereditary cancer-predisposing syndrome [RCV002395723]likely benign|uncertain significance10102594065102594065Human3name
126732256CV1029422single nucleotide variantNM_016169.4(SUFU):c.64G>C (p.Ala22Pro)Gorlin syndrome [RCV001349569]|Hereditary cancer-predisposing syndrome [RCV002368147]uncertain significance10102504216102504216Human3name
126748832CV1029423single nucleotide variantNM_016169.4(SUFU):c.68C>T (p.Pro23Leu)Gorlin syndrome [RCV001337733]|Hereditary cancer-predisposing syndrome [RCV002377432]likely benign|uncertain significance10102504220102504220Human3name
126770929CV1029424single nucleotide variantNM_016169.4(SUFU):c.74C>T (p.Ala25Val)Gorlin syndrome [RCV001344752]|Hereditary cancer-predisposing syndrome [RCV002395755]uncertain significance10102504226102504226Human3name
126769548CV1029425single nucleotide variantNM_016169.4(SUFU):c.91C>A (p.Pro31Thr)Gorlin syndrome [RCV001343977]|Hereditary cancer-predisposing syndrome [RCV004036412]uncertain significance10102504243102504243Human3name
126921886CV1046399single nucleotide variantNM_016169.4(SUFU):c.28C>T (p.Pro10Ser)Gorlin syndrome [RCV001364016]uncertain significance10102504180102504180Human2name
126923784CV1046400single nucleotide variantNM_016169.4(SUFU):c.43C>G (p.Pro15Ala)Gorlin syndrome [RCV001366244]|Hereditary cancer-predisposing syndrome [RCV002329374]uncertain significance10102504195102504195Human3name
126914114CV1046401single nucleotide variantNM_016169.4(SUFU):c.91C>T (p.Pro31Ser)Gorlin syndrome [RCV001359421]uncertain significance10102504243102504243Human2name
126920907CV1046407single nucleotide variantNM_016169.4(SUFU):c.882C>T (p.Gly294=)Gorlin syndrome [RCV001374083]|Hereditary cancer-predisposing syndrome [RCV002447496]|not provided [RCV004762135]likely benign|uncertain significance10102597265102597265Human3name
127274704CV1076876single nucleotide variantNM_016169.4(SUFU):c.609C>T (p.Val203=)Gorlin syndrome [RCV001406404]|Hereditary cancer-predisposing syndrome [RCV002358907]likely benign10102593647102593647Human3name
127239363CV1076877single nucleotide variantNM_016169.4(SUFU):c.741C>T (p.Ile247=)Gorlin syndrome [RCV001392699]|Hereditary cancer-predisposing syndrome [RCV002384557]likely benign|uncertain significance10102594050102594050Human3name
127234527CV1076878single nucleotide variantNM_016169.4(SUFU):c.753G>C (p.Leu251=)Gorlin syndrome [RCV001396445]|Hereditary cancer-predisposing syndrome [RCV004037769]likely benign10102594062102594062Human3name
127274599CV1076879single nucleotide variantNM_016169.4(SUFU):c.795C>T (p.Asn265=)Gorlin syndrome [RCV001406352]|Hereditary cancer-predisposing syndrome [RCV002413962]likely benign10102597178102597178Human3name
127278982CV1098522single nucleotide variantNM_016169.4(SUFU):c.363C>T (p.Thr121=)Gorlin syndrome [RCV001445464]|Hereditary cancer-predisposing syndrome [RCV002350892]likely benign10102550015102550015Human3name
127267212CV1098526single nucleotide variantNM_016169.4(SUFU):c.624A>G (p.Leu208=)Gorlin syndrome [RCV001440498]|Hereditary cancer-predisposing syndrome [RCV002368357]likely benign10102593662102593662Human3name
127276202CV1098528single nucleotide variantNM_016169.4(SUFU):c.708T>C (p.Thr236=)Gorlin syndrome [RCV001443709]likely benign10102594017102594017Human2name
127275237CV1098529single nucleotide variantNM_016169.4(SUFU):c.822C>T (p.Ala274=)Gorlin syndrome [RCV001443251]likely benign10102597205102597205Human2name
127255271CV1098530single nucleotide variantNM_016169.4(SUFU):c.834G>C (p.Leu278=)Gorlin syndrome [RCV001437433]|Hereditary cancer-predisposing syndrome [RCV002439025]likely benign10102597217102597217Human3name
127276138CV1098531single nucleotide variantNM_016169.4(SUFU):c.843C>A (p.Pro281=)Gorlin syndrome [RCV001443680]|Hereditary cancer-predisposing syndrome [RCV004951759]likely benign10102597226102597226Human3name
127307667CV1120108single nucleotide variantNM_016169.4(SUFU):c.426G>A (p.Gln142=)Gorlin syndrome [RCV001463110]|Hereditary cancer-predisposing syndrome [RCV002329537]likely benign10102550078102550078Human3name
127300676CV1120110single nucleotide variantNM_016169.4(SUFU):c.543G>A (p.Glu181=)Gorlin syndrome [RCV001453952]|Hereditary cancer-predisposing syndrome [RCV003160834]likely benign10102592670102592670Human3name
127307812CV1120113single nucleotide variantNM_016169.4(SUFU):c.654C>A (p.Gly218=)Gorlin syndrome [RCV001455873]|Hereditary cancer-predisposing syndrome [RCV002368395]likely benign10102593692102593692Human3name
127287750CV1120114single nucleotide variantNM_016169.4(SUFU):c.774C>A (p.Gly258=)Gorlin syndrome [RCV001450214]|Hereditary cancer-predisposing syndrome [RCV004681185]likely benign10102597157102597157Human3name
127300955CV1120115single nucleotide variantNM_016169.4(SUFU):c.900C>T (p.Leu300=)Gorlin syndrome [RCV001461242]|Hereditary cancer-predisposing syndrome [RCV002377777]likely benign10102597283102597283Human3name
127294969CV1120117single nucleotide variantNM_016169.4(SUFU):c.978A>T (p.Pro326=)Gorlin syndrome [RCV001476988]likely benign10102599500102599500Human2name
127299344CV1120120insertionNM_016169.4(SUFU):c.1158-10_1158-9insTGorlin syndrome [RCV001460778]likely benign10102617280102617281Human2name
127328054CV1140947single nucleotide variantNM_016169.4(SUFU):c.480T>C (p.His160=)Gorlin syndrome [RCV001506894]|Hereditary cancer-predisposing syndrome [RCV002329645]|SUFU-related disorder [RCV004550272]likely benign10102592607102592607Human4name , alternate_id
127327703CV1140948single nucleotide variantNM_016169.4(SUFU):c.546C>T (p.Asp182=)Gorlin syndrome [RCV001486448]likely benign10102592673102592673Human2name
127318617CV1140950single nucleotide variantNM_016169.4(SUFU):c.669G>A (p.Leu223=)Gorlin syndrome [RCV001503760]|Hereditary cancer-predisposing syndrome [RCV002256813]likely benign10102593707102593707Human3name
150555001CV1309991single nucleotide variantNM_016169.4(SUFU):c.31G>C (p.Gly11Arg)Hereditary cancer-predisposing syndrome [RCV002256837]|Medulloblastoma [RCV005397013]|not provided [RCV003238000]conflicting interpretations of pathogenicity|uncertain significance10102504183102504183Human3name
150533466CV1311175single nucleotide variantNM_016169.4(SUFU):c.438A>G (p.Arg146=)not provided [RCV001776910]uncertain significance10102550090102550090Humanname
151877537CV1368873single nucleotide variantNM_016169.4(SUFU):c.80C>T (p.Ala27Val)Gorlin syndrome [RCV001999120]uncertain significance10102504232102504232Human2name
151765205CV1387454single nucleotide variantNM_016169.4(SUFU):c.92C>T (p.Pro31Leu)Gorlin syndrome [RCV001987705]|Hereditary cancer-predisposing syndrome [RCV002370593]uncertain significance10102504244102504244Human3name
151870263CV1416966single nucleotide variantNM_016169.4(SUFU):c.95C>T (p.Pro32Leu)Gorlin syndrome [RCV001998240]|Hereditary cancer-predisposing syndrome [RCV004671585]uncertain significance10102504247102504247Human3name
151739862CV1455253single nucleotide variantNM_016169.4(SUFU):c.73G>A (p.Ala25Thr)Gorlin syndrome [RCV002005708]uncertain significance10102504225102504225Human2name
151809614CV1459867single nucleotide variantNM_016169.4(SUFU):c.38C>G (p.Thr13Ser)Gorlin syndrome [RCV002048729]|Hereditary cancer-predisposing syndrome [RCV002352766]uncertain significance10102504190102504190Human3name
151775959CV1463762single nucleotide variantNM_016169.4(SUFU):c.654C>T (p.Gly218=)Gorlin syndrome [RCV001896792]|Hereditary cancer-predisposing syndrome [RCV004946847]likely benign|uncertain significance10102593692102593692Human3name
151870658CV1476997single nucleotide variantNM_016169.4(SUFU):c.53C>G (p.Pro18Arg)Gorlin syndrome [RCV001925163]|Hereditary cancer-predisposing syndrome [RCV002343997]uncertain significance10102504205102504205Human3name
152076843CV1531224single nucleotide variantNM_016169.4(SUFU):c.375G>A (p.Lys125=)Gorlin syndrome [RCV002210711]|Hereditary cancer-predisposing syndrome [RCV002363718]likely benign10102550027102550027Human3name
152125108CV1532281single nucleotide variantNM_016169.4(SUFU):c.846C>G (p.Pro282=)Gorlin syndrome [RCV002118351]|Hereditary cancer-predisposing syndrome [RCV003355817]likely benign10102597229102597229Human3name
152150046CV1545502single nucleotide variantNM_016169.4(SUFU):c.948C>T (p.Leu316=)Gorlin syndrome [RCV002121612]|Hereditary cancer-predisposing syndrome [RCV002372988]likely benign10102599470102599470Human3name
152099260CV1546860single nucleotide variantNM_016169.4(SUFU):c.438A>T (p.Arg146=)Gorlin syndrome [RCV002133054]likely benign10102550090102550090Human2name
152081884CV1548342single nucleotide variantNM_016169.4(SUFU):c.664C>T (p.Leu222=)Gorlin syndrome [RCV002076477]|Hereditary cancer-predisposing syndrome [RCV002363635]likely benign10102593702102593702Human3name
152129149CV1549200single nucleotide variantNM_016169.4(SUFU):c.633C>T (p.Ala211=)Gorlin syndrome [RCV002099244]|Hereditary cancer-predisposing syndrome [RCV002363642]likely benign10102593671102593671Human3name
152106005CV1560008single nucleotide variantNM_016169.4(SUFU):c.327A>G (p.Gly109=)Gorlin syndrome [RCV002133859]likely benign10102549979102549979Human2name
152041945CV1568506duplicationNM_016169.4(SUFU):c.1158-18_1158-15dupGorlin syndrome [RCV002107862]likely benign10102617270102617271Human2name
152054918CV1574413single nucleotide variantNM_016169.4(SUFU):c.804T>C (p.Gly268=)Gorlin syndrome [RCV002189845]|Hereditary cancer-predisposing syndrome [RCV002407354]likely benign10102597187102597187Human3name
152167699CV1577516single nucleotide variantNM_016169.4(SUFU):c.885A>G (p.Thr295=)Gorlin syndrome [RCV002204777]|Hereditary cancer-predisposing syndrome [RCV002443133]likely benign10102597268102597268Human3name
152056603CV1588274single nucleotide variantNM_016169.4(SUFU):c.477C>T (p.Asp159=)Gorlin syndrome [RCV002190040]|Hereditary cancer-predisposing syndrome [RCV002337212]likely benign10102592604102592604Human3name
152090295CV1594038single nucleotide variantNM_016169.4(SUFU):c.762A>G (p.Arg254=)Gorlin syndrome [RCV002171734]|Hereditary cancer-predisposing syndrome [RCV002391342]likely benign10102597145102597145Human3name
152136259CV1595113single nucleotide variantNM_016169.4(SUFU):c.753G>A (p.Leu251=)Gorlin syndrome [RCV002199982]|Hereditary cancer-predisposing syndrome [RCV002391178]likely benign10102594062102594062Human3name
152114974CV1600377single nucleotide variantNM_016169.4(SUFU):c.660G>A (p.Leu220=)Gorlin syndrome [RCV002097351]likely benign10102593698102593698Human2name
152131430CV1604449single nucleotide variantNM_016169.4(SUFU):c.411C>A (p.Pro137=)Gorlin syndrome [RCV002099539]likely benign10102550063102550063Human2name
152140755CV1609134single nucleotide variantNM_016169.4(SUFU):c.696C>T (p.Pro232=)Gorlin syndrome [RCV002200543]|Hereditary cancer-predisposing syndrome [RCV002363702]likely benign10102594005102594005Human3name
152077292CV1612943single nucleotide variantNM_016169.4(SUFU):c.363C>A (p.Thr121=)Gorlin syndrome [RCV002075903]|Hereditary cancer-predisposing syndrome [RCV002454492]likely benign10102550015102550015Human3name
152088056CV1614779single nucleotide variantNM_016169.4(SUFU):c.933C>T (p.Thr311=)Gorlin syndrome [RCV002093783]likely benign10102599455102599455Human2name
152124229CV1634218single nucleotide variantNM_016169.4(SUFU):c.447C>T (p.Phe149=)Gorlin syndrome [RCV002217182]|Hereditary cancer-predisposing syndrome [RCV002331704]likely benign10102550099102550099Human3name
152169316CV1637005single nucleotide variantNM_016169.4(SUFU):c.987T>G (p.Pro329=)Gorlin syndrome [RCV002182754]|Hereditary cancer-predisposing syndrome [RCV004947093]likely benign10102599509102599509Human3name
152979432CV1676232deletionNM_016169.4(SUFU):c.160del (p.Val54fs)Gorlin syndrome [RCV002245309]pathogenic10102504311102504311Human1name
155749292CV1775349single nucleotide variantNM_016169.4(SUFU):c.52C>A (p.Pro18Thr)Gorlin syndrome [RCV002304498]uncertain significance10102504204102504204Human2name
155732203CV1785684single nucleotide variantNM_016169.4(SUFU):c.336A>T (p.Gly112=)Gorlin syndrome [RCV005213663]|Hereditary cancer-predisposing syndrome [RCV002451704]likely benign10102549988102549988Human3name
155724433CV1790822single nucleotide variantNM_016169.4(SUFU):c.417G>A (p.Glu139=)Hereditary cancer-predisposing syndrome [RCV002327700]likely benign10102550069102550069Human1name
155701840CV1791343single nucleotide variantNM_016169.4(SUFU):c.43C>T (p.Pro15Ser)Hereditary cancer-predisposing syndrome [RCV002333729]uncertain significance10102504195102504195Human1name
155694201CV1791696single nucleotide variantNM_016169.4(SUFU):c.315T>C (p.His105=)Hereditary cancer-predisposing syndrome [RCV002320928]likely benign10102509301102509301Human1name
155721119CV1793375single nucleotide variantNM_016169.4(SUFU):c.37A>T (p.Thr13Ser)Hereditary cancer-predisposing syndrome [RCV002363950]uncertain significance10102504189102504189Human1name
155695567CV1793857single nucleotide variantNM_016169.4(SUFU):c.399A>G (p.Pro133=)Gorlin syndrome [RCV003094476]|Hereditary cancer-predisposing syndrome [RCV002357777]likely benign10102550051102550051Human3name
155682308CV1795746single nucleotide variantNM_016169.4(SUFU):c.342T>C (p.Ser114=)Hereditary cancer-predisposing syndrome [RCV002457027]likely benign10102549994102549994Human1name
155744521CV1796141single nucleotide variantNM_016169.4(SUFU):c.35C>A (p.Pro12His)Hereditary cancer-predisposing syndrome [RCV002346596]uncertain significance10102504187102504187Human1name
155741008CV1797465single nucleotide variantNM_016169.4(SUFU):c.414A>T (p.Ala138=)Gorlin syndrome [RCV005227602]|Hereditary cancer-predisposing syndrome [RCV002333208]likely benign10102550066102550066Human3name
155746557CV1800227single nucleotide variantNM_016169.4(SUFU):c.570A>G (p.Thr190=)Gorlin syndrome [RCV003776148]|Hereditary cancer-predisposing syndrome [RCV002347598]likely benign10102592697102592697Human3name
155672424CV1801017single nucleotide variantNM_016169.4(SUFU):c.627C>T (p.His209=)Hereditary cancer-predisposing syndrome [RCV002368682]likely benign10102593665102593665Human1name
155666825CV1803094single nucleotide variantNM_016169.4(SUFU):c.540A>G (p.Thr180=)Hereditary cancer-predisposing syndrome [RCV002349395]likely benign10102592667102592667Human1name
155722648CV1804460single nucleotide variantNM_016169.4(SUFU):c.64G>T (p.Ala22Ser)Hereditary cancer-predisposing syndrome [RCV002364136]uncertain significance10102504216102504216Human1name
155743325CV1806733single nucleotide variantNM_016169.4(SUFU):c.558G>A (p.Gln186=)Gorlin syndrome [RCV003776132]|Hereditary cancer-predisposing syndrome [RCV002344814]likely benign10102592685102592685Human3name
155680726CV1807278single nucleotide variantNM_016169.4(SUFU):c.588C>G (p.Thr196=)Gorlin syndrome [RCV003776177]|Hereditary cancer-predisposing syndrome [RCV002353567]likely benign10102592715102592715Human3name
155740543CV1809450single nucleotide variantNM_016169.4(SUFU):c.49G>C (p.Ala17Pro)Gorlin syndrome [RCV005213686]|Hereditary cancer-predisposing syndrome [RCV002343020]uncertain significance10102504201102504201Human3name
155747507CV1813732single nucleotide variantNM_016169.4(SUFU):c.796C>T (p.Leu266=)Hereditary cancer-predisposing syndrome [RCV002416920]likely benign10102597179102597179Human1name
155742440CV1813810single nucleotide variantNM_016169.4(SUFU):c.798G>A (p.Leu266=)Hereditary cancer-predisposing syndrome [RCV002412401]likely benign10102597181102597181Human1name
155665297CV1813812single nucleotide variantNM_016169.4(SUFU):c.798G>C (p.Leu266=)Hereditary cancer-predisposing syndrome [RCV002419079]likely benign10102597181102597181Human1name
155742443CV1813815single nucleotide variantNM_016169.4(SUFU):c.798G>T (p.Leu266=)Hereditary cancer-predisposing syndrome [RCV002412402]likely benign10102597181102597181Human1name
155663695CV1814332single nucleotide variantNM_016169.4(SUFU):c.83C>T (p.Ser28Leu)Familial meningioma [RCV004572385]|Hereditary cancer-predisposing syndrome [RCV002434899]uncertain significance10102504235102504235Human2name
155683287CV1814996single nucleotide variantNM_016169.4(SUFU):c.927G>A (p.Arg309=)Gorlin syndrome [RCV003100132]|Hereditary cancer-predisposing syndrome [RCV002371459]likely benign10102599449102599449Human3name
155741583CV1816448single nucleotide variantNM_016169.4(SUFU):c.783A>G (p.Thr261=)Hereditary cancer-predisposing syndrome [RCV002412146]likely benign10102597166102597166Human1name
155742180CV1816580single nucleotide variantNM_016169.4(SUFU):c.786T>C (p.Asp262=)Hereditary cancer-predisposing syndrome [RCV002412278]likely benign10102597169102597169Human1name
155747156CV1816693single nucleotide variantNM_016169.4(SUFU):c.789C>G (p.Gly263=)Hereditary cancer-predisposing syndrome [RCV002416610]likely benign10102597172102597172Human1name
155707981CV1817168single nucleotide variantNM_016169.4(SUFU):c.828T>C (p.Asp276=)Gorlin syndrome [RCV003103489]|Hereditary cancer-predisposing syndrome [RCV002430281]likely benign10102597211102597211Human3name
155711514CV1817852single nucleotide variantNM_016169.4(SUFU):c.912C>T (p.Asp304=)Gorlin syndrome [RCV003103562]|Hereditary cancer-predisposing syndrome [RCV002378731]likely benign|uncertain significance10102599434102599434Human3name
155676727CV1818730single nucleotide variantNM_016169.4(SUFU):c.678G>T (p.Val226=)Gorlin syndrome [RCV003103331]|Hereditary cancer-predisposing syndrome [RCV002369408]likely benign10102593716102593716Human3name
155714504CV1820813single nucleotide variantNM_016169.4(SUFU):c.858G>A (p.Glu286=)Gorlin syndrome [RCV003099980]|Hereditary cancer-predisposing syndrome [RCV002447928]likely benign10102597241102597241Human3name
155700533CV1821093single nucleotide variantNM_016169.4(SUFU):c.900C>G (p.Leu300=)Gorlin syndrome [RCV005227704]|Hereditary cancer-predisposing syndrome [RCV002376375]likely benign10102597283102597283Human3name
155729077CV1823454single nucleotide variantNM_016169.4(SUFU):c.76T>A (p.Phe26Ile)Hereditary cancer-predisposing syndrome [RCV002400594]uncertain significance10102504228102504228Human1name
155704989CV1824010single nucleotide variantNM_016169.4(SUFU):c.840G>A (p.Arg280=)Hereditary cancer-predisposing syndrome [RCV002445862]likely benign10102597223102597223Human1name
155742920CV1824014single nucleotide variantNM_016169.4(SUFU):c.840G>T (p.Arg280=)Gorlin syndrome [RCV003099936]|Hereditary cancer-predisposing syndrome [RCV002412605]likely benign10102597223102597223Human3name
155723107CV1824391single nucleotide variantNM_016169.4(SUFU):c.885A>C (p.Thr295=)Gorlin syndrome [RCV003100042]|Hereditary cancer-predisposing syndrome [RCV002449831]likely benign10102597268102597268Human3name
155723527CV1824720single nucleotide variantNM_016169.4(SUFU):c.894G>A (p.Arg298=)Hereditary cancer-predisposing syndrome [RCV002449885]likely benign10102597277102597277Human1name
155673744CV1825621single nucleotide variantNM_016169.4(SUFU):c.978A>C (p.Pro326=)Gorlin syndrome [RCV005209584]|Hereditary cancer-predisposing syndrome [RCV002387186]likely benign10102599500102599500Human3name
155674413CV1828793single nucleotide variantNM_016169.4(SUFU):c.984C>T (p.Asn328=)Hereditary cancer-predisposing syndrome [RCV002387291]likely benign10102599506102599506Human1name
155729103CV1828987single nucleotide variantNM_016169.4(SUFU):c.990G>A (p.Gln330=)Hereditary cancer-predisposing syndrome [RCV002382795]likely benign10102599512102599512Human1name
155729634CV1829083single nucleotide variantNM_016169.4(SUFU):c.993G>A (p.Arg331=)Hereditary cancer-predisposing syndrome [RCV002382891]likely benign10102599515102599515Human1name
8596158CV18608single nucleotide variantNM_016169.4(SUFU):c.44C>T (p.Pro15Leu)Medulloblastoma [RCV000003750]|not provided [RCV004772827]pathogenic|uncertain significance|other10102504196102504196Human2name
8557517CV18609duplicationNM_016169.4(SUFU):c.143dup (p.Pro49fs)Medulloblastoma [RCV002291206]pathogenic10102504294102504295Human2name
156263423CV1869275single nucleotide variantNM_016169.4(SUFU):c.666G>C (p.Leu222=)Gorlin syndrome [RCV003060443]|Hereditary cancer-predisposing syndrome [RCV003348996]likely benign10102593704102593704Human3name
156288769CV1897199single nucleotide variantNM_016169.4(SUFU):c.687T>C (p.Ala229=)Gorlin syndrome [RCV002598664]likely benign10102593996102593996Human2name
156299188CV1919860single nucleotide variantNM_016169.4(SUFU):c.492C>T (p.His164=)Gorlin syndrome [RCV002599085]likely benign10102592619102592619Human2name
156203198CV1952623single nucleotide variantNM_016169.4(SUFU):c.82T>G (p.Ser28Ala)Gorlin syndrome [RCV002574855]uncertain significance10102504234102504234Human2name
156400643CV1981896single nucleotide variantNM_016169.4(SUFU):c.47C>T (p.Pro16Leu)Gorlin syndrome [RCV002605568]|Hereditary cancer-predisposing syndrome [RCV003375653]uncertain significance10102504199102504199Human3name
156100511CV1981935single nucleotide variantNM_016169.4(SUFU):c.720G>A (p.Arg240=)Gorlin syndrome [RCV002622195]|Hereditary cancer-predisposing syndrome [RCV003167532]likely benign10102594029102594029Human3name
155913877CV1990319single nucleotide variantNM_016169.4(SUFU):c.915A>G (p.Thr305=)Gorlin syndrome [RCV002614185]|Hereditary cancer-predisposing syndrome [RCV004065835]likely benign|uncertain significance10102599437102599437Human3name
155926666CV2041420deletionNM_016169.4(SUFU):c.1296+13_1296+91delGorlin syndrome [RCV002750962]likely benign10102617438102617516Human2name
155937197CV2045928single nucleotide variantNM_016169.4(SUFU):c.681T>C (p.Pro227=)Gorlin syndrome [RCV002751542]likely benign10102593719102593719Human2name
156289879CV2055102single nucleotide variantNM_016169.4(SUFU):c.771A>G (p.Lys257=)Gorlin syndrome [RCV002833157]likely benign10102597154102597154Human2name
156272824CV2056053single nucleotide variantNM_016169.4(SUFU):c.663G>A (p.Glu221=)Gorlin syndrome [RCV002806723]likely benign10102593701102593701Human2name
155955236CV2077562single nucleotide variantNM_016169.4(SUFU):c.972T>C (p.Leu324=)Gorlin syndrome [RCV002880727]likely benign10102599494102599494Human2name
155966339CV2085680single nucleotide variantNM_016169.4(SUFU):c.363C>G (p.Thr121=)Gorlin syndrome [RCV002881273]likely benign10102550015102550015Human2name
156234906CV2094002single nucleotide variantNM_016169.4(SUFU):c.402A>G (p.Pro134=)Gorlin syndrome [RCV002894696]likely benign10102550054102550054Human2name
156327273CV2116132single nucleotide variantNM_016169.4(SUFU):c.46C>G (p.Pro16Ala)Gorlin syndrome [RCV002938160]uncertain significance10102504198102504198Human2name
156321131CV2123795single nucleotide variantNM_016169.4(SUFU):c.600C>A (p.Ile200=)Gorlin syndrome [RCV002963205]likely benign10102593638102593638Human2name
10405963CV213595deletionNM_016169.4(SUFU):c.111del (p.Tyr38fs)Medulloblastoma [RCV000200021]pathogenic|likely pathogenic10102504263102504263Human2name
156226208CV2164692single nucleotide variantNM_016169.4(SUFU):c.516A>C (p.Ser172=)Gorlin syndrome [RCV003042910]likely benign10102592643102592643Human2name
156024146CV2175067single nucleotide variantNM_016169.4(SUFU):c.58C>G (p.Pro20Ala)Familial meningioma [RCV003459715]|Gorlin syndrome [RCV003035878]|Hereditary cancer-predisposing syndrome [RCV005288884]uncertain significance10102504210102504210Human4name
243061594CV2406517single nucleotide variantNM_016169.4(SUFU):c.34C>A (p.Pro12Thr)not provided [RCV003138858]uncertain significance10102504186102504186Humanname
329383523CV2422307single nucleotide variantNM_016169.4(SUFU):c.53C>T (p.Pro18Leu)Gorlin syndrome [RCV003778944]|Hereditary cancer-predisposing syndrome [RCV003176337]uncertain significance10102504205102504205Human3name
329386116CV2433589single nucleotide variantNM_016169.4(SUFU):c.954C>A (p.Ile318=)Hereditary cancer-predisposing syndrome [RCV003177381]likely benign10102599476102599476Human1name
329386119CV2433590single nucleotide variantNM_016169.4(SUFU):c.37A>G (p.Thr13Ala)Hereditary cancer-predisposing syndrome [RCV003177382]likely benign10102504189102504189Human1name
329386126CV2433593single nucleotide variantNM_016169.4(SUFU):c.753G>T (p.Leu251=)Hereditary cancer-predisposing syndrome [RCV003177385]likely benign10102594062102594062Human1name
329386129CV2433594single nucleotide variantNM_016169.4(SUFU):c.906C>T (p.Gly302=)Hereditary cancer-predisposing syndrome [RCV003177386]uncertain significance10102597289102597289Human1name
329386132CV2433595single nucleotide variantNM_016169.4(SUFU):c.339T>C (p.Pro113=)Hereditary cancer-predisposing syndrome [RCV003177387]likely benign10102549991102549991Human1name
329386137CV2433597single nucleotide variantNM_016169.4(SUFU):c.324A>G (p.Thr108=)Hereditary cancer-predisposing syndrome [RCV003177389]likely benign10102549976102549976Human1name
329386140CV2433598single nucleotide variantNM_016169.4(SUFU):c.52C>G (p.Pro18Ala)Hereditary cancer-predisposing syndrome [RCV003177390]uncertain significance10102504204102504204Human1name
329386159CV2433605single nucleotide variantNM_016169.4(SUFU):c.579G>T (p.Gly193=)Hereditary cancer-predisposing syndrome [RCV003177397]likely benign10102592706102592706Human1name
329371863CV2454961single nucleotide variantNM_016169.4(SUFU):c.306C>T (p.Asn102=)Hereditary cancer-predisposing syndrome [RCV003209929]likely benign10102509292102509292Human1name
401784248CV2721194single nucleotide variantNM_016169.4(SUFU):c.40G>A (p.Ala14Thr)Hereditary cancer-predisposing syndrome [RCV003310401]uncertain significance10102504192102504192Human1name
401764314CV2727903single nucleotide variantNM_016169.4(SUFU):c.951G>A (p.Glu317=)Gorlin syndrome [RCV003777112]|Hereditary cancer-predisposing syndrome [RCV003300859]likely benign10102599473102599473Human3name
401764319CV2727905single nucleotide variantNM_016169.4(SUFU):c.838C>A (p.Arg280=)Gorlin syndrome [RCV003777113]|Hereditary cancer-predisposing syndrome [RCV003300861]likely benign10102597221102597221Human3name
401778476CV2732537single nucleotide variantNM_016169.4(SUFU):c.837C>T (p.Ser279=)Hereditary cancer-predisposing syndrome [RCV003306786]likely benign10102597220102597220Human1name
401755041CV2732538single nucleotide variantNM_016169.4(SUFU):c.459C>T (p.Asn153=)Hereditary cancer-predisposing syndrome [RCV003278229]likely benign10102592586102592586Human1name
401755044CV2732540single nucleotide variantNM_016169.4(SUFU):c.612C>T (p.Cys204=)Hereditary cancer-predisposing syndrome [RCV003278230]likely benign10102593650102593650Human1name
401859665CV2757104single nucleotide variantNM_016169.4(SUFU):c.879C>A (p.Ile293=)Hereditary cancer-predisposing syndrome [RCV003341957]likely benign10102597262102597262Human1name
401859666CV2757105single nucleotide variantNM_016169.4(SUFU):c.71C>T (p.Pro24Leu)Gorlin syndrome [RCV003777481]|Hereditary cancer-predisposing syndrome [RCV003341958]uncertain significance10102504223102504223Human3name
401869102CV2757111single nucleotide variantNM_016169.4(SUFU):c.32G>T (p.Gly11Val)Hereditary cancer-predisposing syndrome [RCV003360698]uncertain significance10102504184102504184Human1name
401859150CV2771422single nucleotide variantNM_016169.4(SUFU):c.573C>G (p.Pro191=)Gorlin syndrome [RCV005216073]|Hereditary cancer-predisposing syndrome [RCV003357013]likely benign10102592700102592700Human3name
401907737CV2809580deletionNM_016169.4(SUFU):c.225del (p.Asn76fs)not provided [RCV003422841]pathogenic10102509210102509210Humanname
401945463CV2836672single nucleotide variantNM_016169.4(SUFU):c.56G>T (p.Gly19Val)Familial meningioma [RCV003464659]uncertain significance10102504208102504208Human1name
401945465CV2836674single nucleotide variantNM_016169.4(SUFU):c.59C>G (p.Pro20Arg)Familial meningioma [RCV003464660]|Hereditary cancer-predisposing syndrome [RCV004673897]uncertain significance10102504211102504211Human2name
401962336CV2843123single nucleotide variantNM_016169.4(SUFU):c.369T>C (p.Arg123=)Hereditary cancer-predisposing syndrome [RCV004364820]|not provided [RCV003477383]likely benign|uncertain significance10102550021102550021Human1name
405022412CV3081828single nucleotide variantNM_016169.4(SUFU):c.978A>G (p.Pro326=)Gorlin syndrome [RCV003785434]likely benign10102599500102599500Human2name
404985911CV3083565single nucleotide variantNM_016169.4(SUFU):c.68C>G (p.Pro23Arg)Familial meningioma [RCV004573314]|Gorlin syndrome [RCV003781915]uncertain significance10102504220102504220Human3name
404994514CV3085283single nucleotide variantNM_016169.4(SUFU):c.34C>T (p.Pro12Ser)Gorlin syndrome [RCV003782814]uncertain significance10102504186102504186Human2name
402491925CV3091124single nucleotide variantNM_016169.4(SUFU):c.70C>A (p.Pro24Thr)Gorlin syndrome [RCV003787629]uncertain significance10102504222102504222Human2name
405017458CV3091606single nucleotide variantNM_016169.4(SUFU):c.876C>T (p.Cys292=)Gorlin syndrome [RCV003795273]likely benign10102597259102597259Human2name
402493612CV3092191single nucleotide variantNM_016169.4(SUFU):c.59C>T (p.Pro20Leu)Gorlin syndrome [RCV003787810]uncertain significance10102504211102504211Human2name
405031352CV3092654single nucleotide variantNM_016169.4(SUFU):c.357G>A (p.Glu119=)Gorlin syndrome [RCV003786165]likely benign10102550009102550009Human2name
405008235CV3096248single nucleotide variantNM_016169.4(SUFU):c.62C>T (p.Thr21Ile)Gorlin syndrome [RCV003794398]uncertain significance10102504214102504214Human2name
405021225CV3101281single nucleotide variantNM_016169.4(SUFU):c.28C>G (p.Pro10Ala)Gorlin syndrome [RCV003805860]uncertain significance10102504180102504180Human2name
405014864CV3106674single nucleotide variantNM_016169.4(SUFU):c.31G>A (p.Gly11Ser)Gorlin syndrome [RCV003795011]uncertain significance10102504183102504183Human2name
405035811CV3108629single nucleotide variantNM_016169.4(SUFU):c.702G>T (p.Leu234=)Gorlin syndrome [RCV003807087]likely benign10102594011102594011Human2name
405008547CV3108988single nucleotide variantNM_016169.4(SUFU):c.777C>A (p.Ile259=)Gorlin syndrome [RCV003804655]likely benign10102597160102597160Human2name
405155954CV3109277single nucleotide variantNM_016169.4(SUFU):c.429C>G (p.Gly143=)Gorlin syndrome [RCV003801800]likely benign10102550081102550081Human2name
405161060CV3109843single nucleotide variantNM_016169.4(SUFU):c.939G>A (p.Arg313=)Gorlin syndrome [RCV003802202]|Hereditary cancer-predisposing syndrome [RCV004366670]likely benign10102599461102599461Human3name
405110790CV3110677single nucleotide variantNM_016169.4(SUFU):c.711C>T (p.Asp237=)Gorlin syndrome [RCV003813580]likely benign10102594020102594020Human2name
405110797CV3110678single nucleotide variantNM_016169.4(SUFU):c.969C>G (p.Val323=)Gorlin syndrome [RCV003813581]|Hereditary cancer-predisposing syndrome [RCV004950710]likely benign10102599491102599491Human3name
405111256CV3110713single nucleotide variantNM_016169.4(SUFU):c.669G>C (p.Leu223=)Gorlin syndrome [RCV003813616]likely benign10102593707102593707Human2name
405109934CV3112591single nucleotide variantNM_016169.4(SUFU):c.624A>C (p.Leu208=)Gorlin syndrome [RCV003813434]likely benign10102593662102593662Human2name
405080032CV3114782single nucleotide variantNM_016169.4(SUFU):c.834G>A (p.Leu278=)Gorlin syndrome [RCV003810345]likely benign10102597217102597217Human2name
11659538CV320419single nucleotide variantNM_016169.4(SUFU):c.528C>T (p.His176=)Gorlin syndrome [RCV001086076]|Hereditary cancer-predisposing syndrome [RCV000567224]|Medulloblastoma [RCV000359058]|not provided [RCV000838398]benign|likely benign|uncertain significance10102592655102592655Human4name
405708128CV3384314single nucleotide variantNM_016169.4(SUFU):c.300T>C (p.Gly100=)Hereditary cancer-predisposing syndrome [RCV004522044]likely benign10102509286102509286Human1name
405708132CV3384315single nucleotide variantNM_016169.4(SUFU):c.303C>T (p.Asp101=)Hereditary cancer-predisposing syndrome [RCV004522045]likely benign10102509289102509289Human1name
405708142CV3384316single nucleotide variantNM_016169.4(SUFU):c.35C>G (p.Pro12Arg)Hereditary cancer-predisposing syndrome [RCV004522046]uncertain significance10102504187102504187Human1name
405708158CV3384318single nucleotide variantNM_016169.4(SUFU):c.370C>T (p.Leu124=)Gorlin syndrome [RCV005216242]|Hereditary cancer-predisposing syndrome [RCV004522048]likely benign10102550022102550022Human3name
405708552CV3384320single nucleotide variantNM_016169.4(SUFU):c.393T>C (p.Ser131=)Hereditary cancer-predisposing syndrome [RCV004522050]likely benign10102550045102550045Human1name
405708187CV3384322single nucleotide variantNM_016169.4(SUFU):c.486C>G (p.Ser162=)Hereditary cancer-predisposing syndrome [RCV004522052]likely benign10102592613102592613Human1name
405708202CV3384324single nucleotide variantNM_016169.4(SUFU):c.50C>G (p.Ala17Gly)Hereditary cancer-predisposing syndrome [RCV004522054]uncertain significance10102504202102504202Human1name
405708226CV3384328single nucleotide variantNM_016169.4(SUFU):c.789C>T (p.Gly263=)Gorlin syndrome [RCV005216243]|Hereditary cancer-predisposing syndrome [RCV004522058]likely benign10102597172102597172Human3name
405708233CV3384329single nucleotide variantNM_016169.4(SUFU):c.813C>T (p.Ala271=)Hereditary cancer-predisposing syndrome [RCV004522059]likely benign10102597196102597196Human1name
407497058CV3481809single nucleotide variantNM_016169.4(SUFU):c.95C>A (p.Pro32Gln)Hereditary cancer-predisposing syndrome [RCV004668294]uncertain significance10102504247102504247Human1name
407497086CV3481818single nucleotide variantNM_016169.4(SUFU):c.873C>A (p.Ile291=)Hereditary cancer-predisposing syndrome [RCV004668301]likely benign10102597256102597256Human1name
407497097CV3481824single nucleotide variantNM_016169.4(SUFU):c.573C>A (p.Pro191=)Hereditary cancer-predisposing syndrome [RCV004668304]likely benign10102592700102592700Human1name
407530194CV3481827single nucleotide variantNM_016169.4(SUFU):c.420A>G (p.Leu140=)Hereditary cancer-predisposing syndrome [RCV004681738]likely benign10102550072102550072Human1name
408390617CV3527643single nucleotide variantNM_016169.4(SUFU):c.50C>A (p.Ala17Asp)not provided [RCV004774911]uncertain significance10102504202102504202Humanname
597671336CV3611874single nucleotide variantNM_016169.4(SUFU):c.867G>A (p.Arg289=)Gorlin syndrome [RCV005218371]|Hereditary cancer-predisposing syndrome [RCV004949242]likely benign10102597250102597250Human3name
597671352CV3611876single nucleotide variantNM_016169.4(SUFU):c.549A>G (p.Pro183=)Hereditary cancer-predisposing syndrome [RCV004949244]likely benign10102592676102592676Human1name
597671418CV3611885single nucleotide variantNM_016169.4(SUFU):c.534G>T (p.Leu178=)Hereditary cancer-predisposing syndrome [RCV004949253]likely benign10102592661102592661Human1name
597671426CV3611886single nucleotide variantNM_016169.4(SUFU):c.648G>A (p.Gly216=)Hereditary cancer-predisposing syndrome [RCV004949254]likely benign10102593686102593686Human1name
597671432CV3611887single nucleotide variantNM_016169.4(SUFU):c.35C>T (p.Pro12Leu)Hereditary cancer-predisposing syndrome [RCV004949255]uncertain significance10102504187102504187Human1name
597671460CV3611892single nucleotide variantNM_016169.4(SUFU):c.684T>C (p.Ile228=)Hereditary cancer-predisposing syndrome [RCV004949259]likely benign10102593993102593993Human1name
597671468CV3611893single nucleotide variantNM_016169.4(SUFU):c.751C>T (p.Leu251=)Hereditary cancer-predisposing syndrome [RCV004949260]likely benign10102594060102594060Human1name
597671486CV3611895single nucleotide variantNM_016169.4(SUFU):c.98G>A (p.Gly33Glu)Hereditary cancer-predisposing syndrome [RCV004949262]uncertain significance10102504250102504250Human1name
597671550CV3611903single nucleotide variantNM_016169.4(SUFU):c.507C>T (p.Asn169=)Hereditary cancer-predisposing syndrome [RCV004949270]likely benign10102592634102592634Human1name
597835094CV3864406single nucleotide variantNM_016169.4(SUFU):c.384T>C (p.Thr128=)Gorlin syndrome [RCV005210042]likely benign10102550036102550036Human2name
597859274CV3864900deletionNM_016169.4(SUFU):c.1157+11_1157+12delGorlin syndrome [RCV005213957]likely benign10102615412102615413Human2name
597882994CV3865856single nucleotide variantNM_016169.4(SUFU):c.618A>G (p.Glu206=)Gorlin syndrome [RCV005217521]likely benign10102593656102593656Human2name
597875081CV3874909single nucleotide variantNM_016169.4(SUFU):c.666G>A (p.Leu222=)Gorlin syndrome [RCV005216385]likely benign10102593704102593704Human2name
598221271CV3916263single nucleotide variantNM_016169.4(SUFU):c.29C>T (p.Pro10Leu)Hereditary cancer-predisposing syndrome [RCV005293603]uncertain significance10102504181102504181Human1name
598221311CV3916271single nucleotide variantNM_016169.4(SUFU):c.92C>G (p.Pro31Arg)Hereditary cancer-predisposing syndrome [RCV005293609]uncertain significance10102504244102504244Human1name
598221318CV3916273single nucleotide variantNM_016169.4(SUFU):c.934C>T (p.Leu312=)Hereditary cancer-predisposing syndrome [RCV005293610]likely benign10102599456102599456Human1name
12890272CV397073single nucleotide variantNM_016169.4(SUFU):c.65C>G (p.Ala22Gly)Gorlin syndrome [RCV000474319]|Hereditary cancer-predisposing syndrome [RCV002365622]benign|uncertain significance10102504217102504217Human3name
12892389CV397095single nucleotide variantNM_016169.4(SUFU):c.987T>C (p.Pro329=)Gorlin syndrome [RCV000468120]|Hereditary cancer-predisposing syndrome [RCV002383868]likely benign10102599509102599509Human3name
12882086CV397349single nucleotide variantNM_016169.4(SUFU):c.537G>A (p.Leu179=)Gorlin syndrome [RCV000458989]|Hereditary cancer-predisposing syndrome [RCV001024006]|not provided [RCV001547599]likely benign10102592664102592664Human3name
12883529CV397350single nucleotide variantNM_016169.4(SUFU):c.597G>A (p.Gln199=)Gorlin syndrome [RCV000461774]uncertain significance10102592724102592724Human2name
12883947CV397351single nucleotide variantNM_016169.4(SUFU):c.832C>T (p.Leu278=)Gorlin syndrome [RCV000462570]|Hereditary cancer-predisposing syndrome [RCV001017559]likely benign10102597215102597215Human3name
12890608CV397531single nucleotide variantNM_016169.4(SUFU):c.879C>T (p.Ile293=)Gorlin syndrome [RCV001400946]|Hereditary cancer-predisposing syndrome [RCV001018347]|SUFU-related disorder [RCV004551544]likely benign10102597262102597262Human4name , alternate_id
12892550CV397637single nucleotide variantNM_016169.4(SUFU):c.50C>T (p.Ala17Val)Gorlin syndrome [RCV000475558]|Gorlin syndrome [RCV002291643]|Hereditary cancer-predisposing syndrome [RCV000573813]|Medulloblastoma [RCV001106674]|not provided [RCV002293445]likely benign|conflicting interpretations of pathogenicity|uncertain significance10102504202102504202Human4name
12884196CV397640duplicationNM_016169.4(SUFU):c.171dup (p.Val58fs)Gorlin syndrome [RCV000463016]pathogenic10102504322102504323Human2name
12888782CV397646single nucleotide variantNM_016169.4(SUFU):c.600C>T (p.Ile200=)Familial meningioma [RCV003316587]|Gorlin syndrome [RCV001081771]|Hereditary cancer-predisposing syndrome [RCV000568542]|Medulloblastoma [RCV001108833]|Medulloblastoma [RCV005398653]|not provided [RCV000732323]|not specified [RCV000507081]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance10102593638102593638Human5name
13502485CV459617single nucleotide variantNM_016169.4(SUFU):c.690C>T (p.Gly230=)Gorlin syndrome [RCV000542060]|Hereditary cancer-predisposing syndrome [RCV001025793]|Medulloblastoma [RCV005398765]likely benign10102593999102593999Human4name
13472533CV459839single nucleotide variantNM_016169.4(SUFU):c.678G>A (p.Val226=)Gorlin syndrome [RCV000524950]|Hereditary cancer-predisposing syndrome [RCV001025648]likely benign10102593716102593716Human3name
13485591CV459842single nucleotide variantNM_016169.4(SUFU):c.715C>A (p.Arg239=)Gorlin syndrome [RCV000530833]|Hereditary cancer-predisposing syndrome [RCV002367757]likely benign10102594024102594024Human3name
13493353CV460058single nucleotide variantNM_016169.4(SUFU):c.43C>A (p.Pro15Thr)Familial meningioma [RCV004568693]|Gorlin syndrome [RCV000535620]|Hereditary cancer-predisposing syndrome [RCV001022422]|Joubert syndrome 32 [RCV001292713]|not provided [RCV003329291]uncertain significance10102504195102504195Human5name
13492273CV460066single nucleotide variantNM_016169.4(SUFU):c.603T>C (p.Val201=)Gorlin syndrome [RCV000534828]|Hereditary cancer-predisposing syndrome [RCV002358429]likely benign10102593641102593641Human3name
13472629CV460489single nucleotide variantNM_016169.4(SUFU):c.615T>C (p.Thr205=)Gorlin syndrome [RCV000547433]|Hereditary cancer-predisposing syndrome [RCV001024963]likely benign10102593653102593653Human3name
13479560CV460493single nucleotide variantNM_016169.4(SUFU):c.645C>T (p.Asn215=)Familial meningioma [RCV003316669]|Gorlin syndrome [RCV000528157]|Hereditary cancer-predisposing syndrome [RCV001025288]|not provided [RCV003424084]|not specified [RCV005231010]benign|likely benign10102593683102593683Human4name
13500969CV460500single nucleotide variantNM_016169.4(SUFU):c.666G>T (p.Leu222=)Gorlin syndrome [RCV000540739]|Hereditary cancer-predisposing syndrome [RCV001025517]|not provided [RCV003736802]likely benign10102593704102593704Human3name
13492310CV460507single nucleotide variantNM_016169.4(SUFU):c.855C>T (p.Asp285=)Gorlin syndrome [RCV000557352]|Hereditary cancer-predisposing syndrome [RCV001018000]|not provided [RCV003992316]|not specified [RCV002476075]benign|likely benign10102597238102597238Human3name
13501576CV475061single nucleotide variantNM_016169.4(SUFU):c.67C>T (p.Pro23Ser)Gorlin syndrome [RCV000821320]|Hereditary cancer-predisposing syndrome [RCV000574522]|not provided [RCV003325496]benign|uncertain significance10102504219102504219Human3name
13476070CV475063single nucleotide variantNM_016169.4(SUFU):c.873C>T (p.Ile291=)Gorlin syndrome [RCV000876921]|Hereditary cancer-predisposing syndrome [RCV000565127]|not specified [RCV005231109]likely benign10102597256102597256Human3name
13608399CV524881single nucleotide variantNM_016169.4(SUFU):c.91C>G (p.Pro31Ala)Gorlin syndrome [RCV000628504]uncertain significance10102504243102504243Human2name
13608461CV524894single nucleotide variantNM_016169.4(SUFU):c.411C>T (p.Pro137=)Gorlin syndrome [RCV000628525]|Hereditary cancer-predisposing syndrome [RCV002325190]likely benign10102550063102550063Human3name
13608421CV525125single nucleotide variantNM_016169.4(SUFU):c.849G>A (p.Glu283=)Gorlin syndrome [RCV000628511]|Hereditary cancer-predisposing syndrome [RCV002448922]|not provided [RCV003424196]likely benign|uncertain significance10102597232102597232Human3name
13608450CV525126single nucleotide variantNM_016169.4(SUFU):c.894G>T (p.Arg298=)Gorlin syndrome [RCV001425629]|Hereditary cancer-predisposing syndrome [RCV002257864]likely benign|conflicting interpretations of pathogenicity|uncertain significance10102597277102597277Human3name
13608443CV525263single nucleotide variantNM_016169.4(SUFU):c.807C>T (p.Val269=)Gorlin syndrome [RCV001406908]|Hereditary cancer-predisposing syndrome [RCV002420667]|not specified [RCV003488740]likely benign10102597190102597190Human3name
13608414CV525448single nucleotide variantNM_016169.4(SUFU):c.55G>A (p.Gly19Ser)Gorlin syndrome [RCV000628509]|Hereditary cancer-predisposing syndrome [RCV002343186]uncertain significance10102504207102504207Human3name
13817473CV564461single nucleotide variantNM_016169.4(SUFU):c.32G>A (p.Gly11Asp)Gorlin syndrome [RCV000707040]|Hereditary cancer-predisposing syndrome [RCV002458322]|Medulloblastoma [RCV005027879]|not provided [RCV004768598]uncertain significance10102504184102504184Human4name
14718322CV638674single nucleotide variantNM_016169.4(SUFU):c.65C>T (p.Ala22Val)Gorlin syndrome [RCV000795767]|Hereditary cancer-predisposing syndrome [RCV004027536]uncertain significance10102504217102504217Human3name
15151452CV687581single nucleotide variantNM_016169.4(SUFU):c.300T>A (p.Gly100=)Gorlin syndrome [RCV000867247]|Hereditary cancer-predisposing syndrome [RCV001018025]likely benign10102509286102509286Human3name
15141613CV687582single nucleotide variantNM_016169.4(SUFU):c.405A>G (p.Thr135=)Gorlin syndrome [RCV001402277]|Hereditary cancer-predisposing syndrome [RCV002319971]likely benign10102550057102550057Human3name
15152840CV687583single nucleotide variantNM_016169.4(SUFU):c.573C>T (p.Pro191=)Gorlin syndrome [RCV001499649]|Hereditary cancer-predisposing syndrome [RCV003169142]|not provided [RCV004569800]likely benign10102592700102592700Human3name
15150657CV687584single nucleotide variantNM_016169.4(SUFU):c.579G>A (p.Gly193=)Gorlin syndrome [RCV000867093]|Hereditary cancer-predisposing syndrome [RCV004669157]likely benign10102592706102592706Human3name
15141606CV692763single nucleotide variantNM_016169.4(SUFU):c.474G>A (p.Gly158=)Gorlin syndrome [RCV000877705]|Hereditary cancer-predisposing syndrome [RCV002336861]|SUFU-related disorder [RCV004549993]|not provided [RCV003478567]benign|likely benign10102592601102592601Human4name , alternate_id
15120293CV692764single nucleotide variantNM_016169.4(SUFU):c.561C>G (p.Pro187=)Gorlin syndrome [RCV001500042]|Hereditary cancer-predisposing syndrome [RCV001024331]likely benign10102592688102592688Human3name
15183945CV701150single nucleotide variantNM_016169.4(SUFU):c.726G>A (p.Glu242=)Gorlin syndrome [RCV000952585]|Hereditary cancer-predisposing syndrome [RCV002382183]likely benign10102594035102594035Human3name
15169943CV723735single nucleotide variantNM_016169.4(SUFU):c.831C>T (p.Asp277=)Gorlin syndrome [RCV000883375]|Hereditary cancer-predisposing syndrome [RCV002427238]likely benign10102597214102597214Human3name
15125589CV737312single nucleotide variantNM_016169.4(SUFU):c.846C>T (p.Pro282=)Gorlin syndrome [RCV000896789]|Hereditary cancer-predisposing syndrome [RCV002444990]likely benign10102597229102597229Human3name
15133286CV751924single nucleotide variantNM_016169.4(SUFU):c.639G>A (p.Gln213=)Gorlin syndrome [RCV001493964]likely benign10102593677102593677Human2name
15184481CV767597single nucleotide variantNM_016169.4(SUFU):c.441C>T (p.Tyr147=)Gorlin syndrome [RCV000930818]|Hereditary cancer-predisposing syndrome [RCV002332902]likely benign10102550093102550093Human3name
15202587CV767598single nucleotide variantNM_016169.4(SUFU):c.444G>A (p.Val148=)Gorlin syndrome [RCV001447936]|Hereditary cancer-predisposing syndrome [RCV002332916]likely benign10102550096102550096Human3name
15197537CV767599single nucleotide variantNM_016169.4(SUFU):c.870C>T (p.Ser290=)Gorlin syndrome [RCV001399317]|Hereditary cancer-predisposing syndrome [RCV002372603]likely benign10102597253102597253Human3name
15104460CV767600single nucleotide variantNM_016169.4(SUFU):c.891C>G (p.Pro297=)Gorlin syndrome [RCV001435471]|Hereditary cancer-predisposing syndrome [RCV002372613]likely benign10102597274102597274Human3name
15107963CV783524single nucleotide variantNM_016169.4(SUFU):c.561C>T (p.Pro187=)Gorlin syndrome [RCV000976938]|Hereditary cancer-predisposing syndrome [RCV001024332]likely benign10102592688102592688Human3name
15145973CV783525single nucleotide variantNM_016169.4(SUFU):c.693C>A (p.Gly231=)Gorlin syndrome [RCV000983758]|Hereditary cancer-predisposing syndrome [RCV002372701]likely benign10102594002102594002Human3name
21071987CV790936single nucleotide variantNM_016169.4(SUFU):c.37A>C (p.Thr13Pro)Gorlin syndrome [RCV000988446]|Medulloblastoma [RCV005392622]|not provided [RCV003238258]likely benign|conflicting interpretations of pathogenicity|uncertain significance10102504189102504189Human3name
25317887CV809809single nucleotide variantNM_016169.4(SUFU):c.38C>T (p.Thr13Ile)Familial meningioma [RCV003467661]|Gorlin syndrome [RCV001054304]|Hereditary cancer-predisposing syndrome [RCV001021386]|not provided [RCV004773228]uncertain significance10102504190102504190Human4name
25324002CV809810single nucleotide variantNM_016169.4(SUFU):c.56G>A (p.Gly19Asp)Gorlin syndrome [RCV001069906]|Hereditary cancer-predisposing syndrome [RCV001024427]uncertain significance10102504208102504208Human3name
25325869CV809811single nucleotide variantNM_016169.4(SUFU):c.70C>G (p.Pro24Ala)Familial meningioma [RCV003461413]|Gorlin syndrome [RCV001063730]|Hereditary cancer-predisposing syndrome [RCV001026035]uncertain significance10102504222102504222Human4name
25326011CV809812single nucleotide variantNM_016169.4(SUFU):c.71C>A (p.Pro24Gln)Gorlin syndrome [RCV001374122]|Hereditary cancer-predisposing syndrome [RCV001026147]uncertain significance10102504223102504223Human3name
25315827CV809813single nucleotide variantNM_016169.4(SUFU):c.98G>C (p.Gly33Ala)Gorlin syndrome [RCV001370651]|Hereditary cancer-predisposing syndrome [RCV001019877]uncertain significance10102504250102504250Human3name
25317923CV809822single nucleotide variantNM_016169.4(SUFU):c.390G>A (p.Glu130=)Hereditary cancer-predisposing syndrome [RCV001021420]likely benign10102550042102550042Human1name
25324288CV809826single nucleotide variantNM_016169.4(SUFU):c.591C>T (p.Phe197=)Gorlin syndrome [RCV001470047]|Hereditary cancer-predisposing syndrome [RCV001024683]likely benign10102592718102592718Human3name
25326704CV809833single nucleotide variantNM_016169.4(SUFU):c.777C>T (p.Ile259=)Gorlin syndrome [RCV001485550]|Hereditary cancer-predisposing syndrome [RCV001026804]likely benign10102597160102597160Human3name
25329475CV809836single nucleotide variantNM_016169.4(SUFU):c.843C>T (p.Pro281=)Gorlin syndrome [RCV003769503]|Hereditary cancer-predisposing syndrome [RCV001017776]likely benign10102597226102597226Human3name
25329523CV809837single nucleotide variantNM_016169.4(SUFU):c.846C>A (p.Pro282=)Gorlin syndrome [RCV002551802]|Hereditary cancer-predisposing syndrome [RCV001017850]likely benign10102597229102597229Human3name
25314912CV809846single nucleotide variantNM_016169.4(SUFU):c.933C>A (p.Thr311=)Gorlin syndrome [RCV001452534]|Hereditary cancer-predisposing syndrome [RCV001019186]|SUFU-related disorder [RCV004553558]likely benign10102599455102599455Human4name , alternate_id
25315266CV809849single nucleotide variantNM_016169.4(SUFU):c.948C>G (p.Leu316=)Gorlin syndrome [RCV001440936]|Hereditary cancer-predisposing syndrome [RCV001019398]likely benign10102599470102599470Human3name
25315373CV809851single nucleotide variantNM_016169.4(SUFU):c.957C>T (p.Asn319=)Hereditary cancer-predisposing syndrome [RCV001019505]likely benign10102599479102599479Human1name
25315645CV809853single nucleotide variantNM_016169.4(SUFU):c.975A>G (p.Pro325=)Gorlin syndrome [RCV003769518]|Hereditary cancer-predisposing syndrome [RCV001019721]likely benign10102599497102599497Human3name
26890422CV836566single nucleotide variantNM_016169.4(SUFU):c.86T>G (p.Leu29Arg)Familial meningioma [RCV004570151]|Gorlin syndrome [RCV001046021]|Hereditary cancer-predisposing syndrome [RCV002372793]uncertain significance10102504238102504238Human4name
26923551CV836569duplicationNM_016169.4(SUFU):c.124dup (p.Arg42fs)Gorlin syndrome [RCV001064195]pathogenic10102504274102504275Human2name
26923533CV852543deletionNM_016169.4(SUFU):c.1296+4_1296+459delGorlin syndrome [RCV001064159]uncertain significance10102617428102617883Human2name
28910037CV865295single nucleotide variantNM_016169.4(SUFU):c.696C>G (p.Pro232=)Medulloblastoma [RCV001108834]uncertain significance10102594005102594005Human2name
38488509CV925726single nucleotide variantNM_016169.4(SUFU):c.429C>T (p.Gly143=)Gorlin syndrome [RCV001221265]likely benign|uncertain significance10102550081102550081Human2name
38490298CV934926single nucleotide variantNM_016169.4(SUFU):c.46C>A (p.Pro16Thr)Gorlin syndrome [RCV001210588]|Hereditary cancer-predisposing syndrome [RCV002339543]|not provided [RCV001574638]uncertain significance10102504198102504198Human3name
38470265CV934927single nucleotide variantNM_016169.4(SUFU):c.79G>A (p.Ala27Thr)Gorlin syndrome [RCV001213520]|Hereditary cancer-predisposing syndrome [RCV002418731]uncertain significance10102504231102504231Human3name
38496332CV955968single nucleotide variantNM_016169.4(SUFU):c.70C>T (p.Pro24Ser)Gorlin syndrome [RCV001242490]|Hereditary cancer-predisposing syndrome [RCV002366068]uncertain significance10102504222102504222Human3name
126756747CV993675single nucleotide variantNM_016169.4(SUFU):c.65C>A (p.Ala22Asp)Gorlin syndrome [RCV001308204]|Hereditary cancer-predisposing syndrome [RCV002366155]uncertain significance10102504217102504217Human3name
151823155CV1352160single nucleotide variantNM_016169.4(SUFU):c.124C>T (p.Arg42Cys)Gorlin syndrome [RCV002013592]uncertain significance10102504276102504276Human2name
151797731CV1352649single nucleotide variantNM_016169.4(SUFU):c.217A>C (p.Met73Leu)Gorlin syndrome [RCV001877097]|Hereditary cancer-predisposing syndrome [RCV002425149]uncertain significance10102509203102509203Human3name
151832163CV1356077single nucleotide variantNM_016169.4(SUFU):c.272T>A (p.Ile91Asn)Gorlin syndrome [RCV002030911]uncertain significance10102509258102509258Human2name
151867802CV1366603single nucleotide variantNM_016169.4(SUFU):c.157C>T (p.Gln53Ter)Gorlin syndrome [RCV001939385]pathogenic10102504309102504309Human2name
151880904CV1406026single nucleotide variantNM_016169.4(SUFU):c.137C>T (p.Pro46Leu)Gorlin syndrome [RCV001941017]|Hereditary cancer-predisposing syndrome [RCV004042034]uncertain significance10102504289102504289Human3name
151847090CV1409417single nucleotide variantNM_016169.4(SUFU):c.217A>T (p.Met73Leu)Gorlin syndrome [RCV001882095]|Hereditary cancer-predisposing syndrome [RCV004946835]uncertain significance10102509203102509203Human3name
151777669CV1411784duplicationNM_016169.4(SUFU):c.576dup (p.Gly193fs)Gorlin syndrome [RCV001930130]pathogenic10102592700102592701Human2name
151821296CV1425655single nucleotide variantNM_016169.4(SUFU):c.247A>C (p.Asn83His)Gorlin syndrome [RCV001954786]uncertain significance10102509233102509233Human2name
151842519CV1446109single nucleotide variantNM_016169.4(SUFU):c.253C>G (p.Pro85Ala)Gorlin syndrome [RCV001956924]uncertain significance10102509239102509239Human2name
151866084CV1456267single nucleotide variantNM_016169.4(SUFU):c.160G>A (p.Val54Ile)Gorlin syndrome [RCV002035071]uncertain significance10102504312102504312Human2name
151854947CV1466199single nucleotide variantNM_016169.4(SUFU):c.247A>G (p.Asn83Asp)Familial meningioma [RCV004571478]|Gorlin syndrome [RCV001883219]|Hereditary cancer-predisposing syndrome [RCV002449515]likely benign|uncertain significance10102509233102509233Human4name
151832235CV1487967single nucleotide variantNM_016169.4(SUFU):c.287G>C (p.Ser96Thr)Gorlin syndrome [RCV001955788]|Hereditary cancer-predisposing syndrome [RCV004671560]uncertain significance10102509273102509273Human3name
151800162CV1509445single nucleotide variantNM_016169.4(SUFU):c.236G>C (p.Ser79Thr)Gorlin syndrome [RCV001867052]uncertain significance10102509222102509222Human2name
151890097CV1514560single nucleotide variantNM_016169.4(SUFU):c.173T>A (p.Val58Asp)Gorlin syndrome [RCV001963561]uncertain significance10102504325102504325Human2name
152106591CV1527398single nucleotide variantNM_016169.4(SUFU):c.1056C>A (p.Ser352=)Gorlin syndrome [RCV002079689]|Hereditary cancer-predisposing syndrome [RCV003161556]likely benign10102615301102615301Human3name
152069805CV1535490single nucleotide variantNM_016169.4(SUFU):c.1176A>G (p.Gly392=)Gorlin syndrome [RCV002091430]|Hereditary cancer-predisposing syndrome [RCV002256914]likely benign10102617308102617308Human3name
152110668CV1537027single nucleotide variantNM_016169.4(SUFU):c.1452C>T (p.His484=)Gorlin syndrome [RCV002215440]|Hereditary cancer-predisposing syndrome [RCV002391205]likely benign10102630152102630152Human3name
152139998CV1551172single nucleotide variantNM_016169.4(SUFU):c.1287C>G (p.Pro429=)Gorlin syndrome [RCV002177930]|Hereditary cancer-predisposing syndrome [RCV004045074]likely benign10102617419102617419Human3name
152084019CV1576939single nucleotide variantNM_016169.4(SUFU):c.1293A>G (p.Leu431=)Gorlin syndrome [RCV002193393]likely benign10102617425102617425Human2name
152170200CV1592308single nucleotide variantNM_016169.4(SUFU):c.1185T>C (p.Phe395=)Gorlin syndrome [RCV002161690]likely benign10102617317102617317Human2name
152134844CV1646785single nucleotide variantNM_016169.4(SUFU):c.1398A>G (p.Glu466=)Gorlin syndrome [RCV002137400]|Hereditary cancer-predisposing syndrome [RCV002391271]likely benign10102630098102630098Human3name
152079648CV1666817single nucleotide variantNM_016169.4(SUFU):c.134A>T (p.Tyr45Phe)Gorlin syndrome [RCV003774632]|Hereditary cancer-predisposing syndrome [RCV003308061]|not provided [RCV002211162]uncertain significance10102504286102504286Human3name
153001502CV1684323single nucleotide variantNM_016169.4(SUFU):c.118G>A (p.Glu40Lys)Gorlin syndrome [RCV005225581]|Hereditary cancer-predisposing syndrome [RCV002256965]uncertain significance10102504270102504270Human3name
153346892CV1694258duplicationNM_016169.4(SUFU):c.555dup (p.Gln186fs)Neurodevelopmental disorder [RCV002277674]likely pathogenic10102592681102592682Human1name
155749812CV1772533single nucleotide variantNM_016169.4(SUFU):c.172G>A (p.Val58Ile)Gorlin syndrome [RCV002305045]uncertain significance10102504324102504324Human2name
155665497CV1773324single nucleotide variantNM_016169.4(SUFU):c.238C>A (p.Pro80Thr)Gorlin syndrome [RCV002297036]uncertain significance10102509224102509224Human2name
155684291CV1776874single nucleotide variantNM_016169.4(SUFU):c.106G>A (p.Ala36Thr)Gorlin syndrome [RCV002298398]uncertain significance10102504258102504258Human2name
155724470CV1790826single nucleotide variantNM_016169.4(SUFU):c.1167C>T (p.Leu389=)Gorlin syndrome [RCV003102534]|Hereditary cancer-predisposing syndrome [RCV002327704]likely benign10102617299102617299Human3name
155742145CV1791262single nucleotide variantNM_016169.4(SUFU):c.1173T>C (p.His391=)Hereditary cancer-predisposing syndrome [RCV002333648]likely benign10102617305102617305Human1name
155692712CV1794908single nucleotide variantNM_016169.4(SUFU):c.112T>C (p.Tyr38His)Hereditary cancer-predisposing syndrome [RCV002320672]uncertain significance10102504264102504264Human1name
155738421CV1797898single nucleotide variantNM_016169.4(SUFU):c.1170G>A (p.Leu390=)Hereditary cancer-predisposing syndrome [RCV002331866]likely benign10102617302102617302Human1name
155740122CV1802261single nucleotide variantNM_016169.4(SUFU):c.1188A>G (p.Thr396=)Hereditary cancer-predisposing syndrome [RCV002332399]likely benign10102617320102617320Human1name
155710180CV1811602single nucleotide variantNM_016169.4(SUFU):c.1221G>T (p.Thr407=)Hereditary cancer-predisposing syndrome [RCV002361542]likely benign10102617353102617353Human1name
155726456CV1811986single nucleotide variantNM_016169.4(SUFU):c.1227C>T (p.Val409=)Hereditary cancer-predisposing syndrome [RCV002364619]likely benign10102617359102617359Human1name
155680183CV1815890single nucleotide variantNM_016169.4(SUFU):c.1239G>A (p.Val413=)Gorlin syndrome [RCV003098505]|Hereditary cancer-predisposing syndrome [RCV002370886]likely benign10102617371102617371Human3name
155696916CV1816201single nucleotide variantNM_016169.4(SUFU):c.1245C>G (p.Gly415=)Hereditary cancer-predisposing syndrome [RCV002393794]likely benign10102617377102617377Human1name
155669144CV1821802single nucleotide variantNM_016169.4(SUFU):c.130C>T (p.Leu44Phe)Gorlin syndrome [RCV003774252]|Hereditary cancer-predisposing syndrome [RCV002385408]|not provided [RCV005416634]uncertain significance10102504282102504282Human3name
155708163CV1823214single nucleotide variantNM_016169.4(SUFU):c.1248C>T (p.Ala416=)Gorlin syndrome [RCV003776420]|Hereditary cancer-predisposing syndrome [RCV002396396]likely benign10102617380102617380Human3name
155732420CV1826417single nucleotide variantNM_016169.4(SUFU):c.1356T>C (p.Ser452=)Hereditary cancer-predisposing syndrome [RCV002383374]likely benign10102627234102627234Human1name
155689568CV1826705single nucleotide variantNM_016169.4(SUFU):c.1422G>T (p.Leu474=)Gorlin syndrome [RCV003095137]|Hereditary cancer-predisposing syndrome [RCV002391855]likely benign10102630122102630122Human3name
155690097CV1826784single nucleotide variantNM_016169.4(SUFU):c.1425T>G (p.Pro475=)Hereditary cancer-predisposing syndrome [RCV002391934]likely benign10102630125102630125Human1name
155691254CV1827001single nucleotide variantNM_016169.4(SUFU):c.1434G>T (p.Val478=)Gorlin syndrome [RCV005227722]|Hereditary cancer-predisposing syndrome [RCV002392151]likely benign10102630134102630134Human3name
155692331CV1827448single nucleotide variantNM_016169.4(SUFU):c.1041G>C (p.Leu347=)Gorlin syndrome [RCV003095277]|Hereditary cancer-predisposing syndrome [RCV002392344]likely benign10102615286102615286Human3name
155675951CV1829286single nucleotide variantNM_016169.4(SUFU):c.1332G>A (p.Leu444=)Hereditary cancer-predisposing syndrome [RCV002387529]likely benign10102627210102627210Human1name
155681513CV1829699single nucleotide variantNM_016169.4(SUFU):c.1405C>T (p.Leu469=)Hereditary cancer-predisposing syndrome [RCV002389364]likely benign10102630105102630105Human1name
155682084CV1829787single nucleotide variantNM_016169.4(SUFU):c.140A>C (p.Asp47Ala)Hereditary cancer-predisposing syndrome [RCV002389452]likely benign10102504292102504292Human1name
155682295CV1829819single nucleotide variantNM_016169.4(SUFU):c.1002C>T (p.Gly334=)Gorlin syndrome [RCV003103676]|Hereditary cancer-predisposing syndrome [RCV002389484]likely benign10102599524102599524Human3name
155682403CV1829836single nucleotide variantNM_016169.4(SUFU):c.1410G>A (p.Lys470=)Hereditary cancer-predisposing syndrome [RCV002389501]likely benign10102630110102630110Human1name
155683200CV1830194single nucleotide variantNM_016169.4(SUFU):c.103C>T (p.His35Tyr)Familial meningioma [RCV003464518]|Gorlin syndrome [RCV003095227]|Hereditary cancer-predisposing syndrome [RCV002389605]|not provided [RCV003313277]uncertain significance10102504255102504255Human4name
155738290CV1831987single nucleotide variantNM_016169.4(SUFU):c.1062C>T (p.Ala354=)Hereditary cancer-predisposing syndrome [RCV002410285]likely benign10102615307102615307Human1name
155669930CV1832242single nucleotide variantNM_016169.4(SUFU):c.1314G>A (p.Glu438=)Hereditary cancer-predisposing syndrome [RCV002385539]likely benign10102627192102627192Human1name
155671026CV1832491single nucleotide variantNM_016169.4(SUFU):c.1326A>G (p.Lys442=)Hereditary cancer-predisposing syndrome [RCV002385789]likely benign10102627204102627204Human1name
155680217CV1832831single nucleotide variantNM_016169.4(SUFU):c.1395T>C (p.Pro465=)Gorlin syndrome [RCV005227719]|Hereditary cancer-predisposing syndrome [RCV002389112]likely benign10102630095102630095Human3name
155680732CV1832940single nucleotide variantNM_016169.4(SUFU):c.139G>T (p.Asp47Tyr)Hereditary cancer-predisposing syndrome [RCV002389221]uncertain significance10102504291102504291Human1name
155731947CV1835020single nucleotide variantNM_016169.4(SUFU):c.179A>C (p.Tyr60Ser)Gorlin syndrome [RCV003100849]|Hereditary cancer-predisposing syndrome [RCV002407836]uncertain significance10102504331102504331Human3name
155746687CV1835262single nucleotide variantNM_016169.4(SUFU):c.187G>A (p.Gly63Ser)Gorlin syndrome [RCV005215896]|Hereditary cancer-predisposing syndrome [RCV002415283]|not provided [RCV004765503]uncertain significance10102509173102509173Human3name
155739301CV1835538single nucleotide variantNM_016169.4(SUFU):c.1068T>A (p.Ile356=)Gorlin syndrome [RCV003774560]|Hereditary cancer-predisposing syndrome [RCV002410609]likely benign10102615313102615313Human3name
155730668CV1837128single nucleotide variantNM_016169.4(SUFU):c.152C>G (p.Pro51Arg)Hereditary cancer-predisposing syndrome [RCV002400847]uncertain significance10102504304102504304Human1name
155730919CV1838247single nucleotide variantNM_016169.4(SUFU):c.1059G>C (p.Thr353=)Hereditary cancer-predisposing syndrome [RCV002407612]likely benign10102615304102615304Human1name
155702213CV1838266single nucleotide variantNM_016169.4(SUFU):c.1059G>T (p.Thr353=)Gorlin syndrome [RCV005215890]|Hereditary cancer-predisposing syndrome [RCV002401687]likely benign10102615304102615304Human3name
155668390CV1846593single nucleotide variantNM_016169.4(SUFU):c.1074T>C (p.His358=)Hereditary cancer-predisposing syndrome [RCV002419562]likely benign10102615319102615319Human1name
155711239CV1848428single nucleotide variantNM_016169.4(SUFU):c.245C>T (p.Ala82Val)Gorlin syndrome [RCV003775260]|Hereditary cancer-predisposing syndrome [RCV002430729]uncertain significance10102509231102509231Human3name
155704307CV1849048single nucleotide variantNM_016169.4(SUFU):c.110T>A (p.Ile37Asn)Hereditary cancer-predisposing syndrome [RCV002428957]uncertain significance10102504262102504262Human1name
155707051CV1851090single nucleotide variantNM_016169.4(SUFU):c.230T>C (p.Val77Ala)Gorlin syndrome [RCV003101731]|Hereditary cancer-predisposing syndrome [RCV002446429]uncertain significance10102509216102509216Human3name
155727323CV1851508single nucleotide variantNM_016169.4(SUFU):c.242C>T (p.Ser81Phe)Hereditary cancer-predisposing syndrome [RCV002450453]uncertain significance10102509228102509228Human1name
155686940CV1852755single nucleotide variantNM_016169.4(SUFU):c.280G>A (p.Gly94Ser)Gorlin syndrome [RCV003775382]|Hereditary cancer-predisposing syndrome [RCV002441694]uncertain significance10102509266102509266Human3name
155686195CV1853392single nucleotide variantNM_016169.4(SUFU):c.278T>G (p.Phe93Cys)Hereditary cancer-predisposing syndrome [RCV002441407]uncertain significance10102509264102509264Human1name
155669132CV1856255single nucleotide variantNM_016169.4(SUFU):c.1125G>A (p.Gln375=)Hereditary cancer-predisposing syndrome [RCV002435957]likely benign10102615370102615370Human1name
155942026CV1910305single nucleotide variantNM_016169.4(SUFU):c.1434G>A (p.Val478=)Gorlin syndrome [RCV002615699]|Hereditary cancer-predisposing syndrome [RCV004949008]likely benign10102630134102630134Human3name
156014968CV1912714single nucleotide variantNM_016169.4(SUFU):c.137C>G (p.Pro46Arg)Familial meningioma [RCV003459754]|Gorlin syndrome [RCV002619099]uncertain significance10102504289102504289Human3name
156202637CV1925765single nucleotide variantNM_016169.4(SUFU):c.1134A>G (p.Gly378=)Gorlin syndrome [RCV002643688]likely benign10102615379102615379Human2name
156138453CV2006490single nucleotide variantNM_016169.4(SUFU):c.1233G>A (p.Thr411=)Gorlin syndrome [RCV002663478]|Hereditary cancer-predisposing syndrome [RCV005281214]uncertain significance10102617365102617365Human3name
156024916CV2077992single nucleotide variantNM_016169.4(SUFU):c.1167C>G (p.Leu389=)Gorlin syndrome [RCV002866788]likely benign10102617299102617299Human2name
155903245CV2127093single nucleotide variantNM_016169.4(SUFU):c.1065C>A (p.Ile355=)Gorlin syndrome [RCV002967549]|Hereditary cancer-predisposing syndrome [RCV004068326]likely benign10102615310102615310Human3name
156033447CV2152721single nucleotide variantNM_016169.4(SUFU):c.119A>G (p.Glu40Gly)Gorlin syndrome [RCV003018772]|Hereditary cancer-predisposing syndrome [RCV004673764]uncertain significance10102504271102504271Human3name
156242905CV2189005single nucleotide variantNM_016169.4(SUFU):c.227A>C (p.Asn76Thr)Gorlin syndrome [RCV003059720]uncertain significance10102509213102509213Human2name
156369855CV2190669single nucleotide variantNM_016169.4(SUFU):c.222C>G (p.Tyr74Ter)Gorlin syndrome [RCV003066202]pathogenic10102509208102509208Human2name
156200717CV2192124deletionNM_016169.4(SUFU):c.581del (p.Val194fs)Gorlin syndrome [RCV003058151]pathogenic10102592708102592708Human2name
156440157CV2401848deletionNM_016169.4(SUFU):c.846del (p.Glu283fs)Congenital fibrosarcoma [RCV003110131]|Gorlin syndrome [RCV005215970]pathogenic|likely pathogenic10102597224102597224Human3name
329386096CV2433582single nucleotide variantNM_016169.4(SUFU):c.1149C>T (p.Leu383=)Gorlin syndrome [RCV003779558]|Hereditary cancer-predisposing syndrome [RCV003177374]|not provided [RCV004598258]likely benign10102615394102615394Human3name
329386099CV2433583single nucleotide variantNM_016169.4(SUFU):c.241T>G (p.Ser81Ala)Hereditary cancer-predisposing syndrome [RCV003177375]uncertain significance10102509227102509227Human1name
329386156CV2433604single nucleotide variantNM_016169.4(SUFU):c.109A>C (p.Ile37Leu)Hereditary cancer-predisposing syndrome [RCV003177396]uncertain significance10102504261102504261Human1name
401755036CV2732534single nucleotide variantNM_016169.4(SUFU):c.1269T>G (p.Pro423=)Hereditary cancer-predisposing syndrome [RCV003278227]likely benign10102617401102617401Human1name
401778484CV2732544single nucleotide variantNM_016169.4(SUFU):c.1038C>T (p.Ser346=)Hereditary cancer-predisposing syndrome [RCV003306790]likely benign10102615283102615283Human1name
401798104CV2741277duplicationNM_016169.4(SUFU):c.881dup (p.Thr295fs)not provided [RCV003322440]likely pathogenic10102597262102597263Humanname
401859663CV2757103single nucleotide variantNM_016169.4(SUFU):c.254C>G (p.Pro85Arg)Hereditary cancer-predisposing syndrome [RCV003341956]uncertain significance10102509240102509240Human1name
401859672CV2757108single nucleotide variantNM_016169.4(SUFU):c.1140C>T (p.Leu380=)Hereditary cancer-predisposing syndrome [RCV003341961]likely benign10102615385102615385Human1name
401862380CV2775274single nucleotide variantNM_016169.4(SUFU):c.1447C>T (p.Leu483=)Hereditary cancer-predisposing syndrome [RCV003343196]likely benign10102630147102630147Human1name
401862477CV2775322single nucleotide variantNM_016169.4(SUFU):c.1015C>A (p.Arg339=)Hereditary cancer-predisposing syndrome [RCV003343244]likely benign10102599537102599537Human1name
401913546CV2801823single nucleotide variantNM_016169.4(SUFU):c.176A>G (p.Lys59Arg)SUFU-related disorder [RCV004552470]uncertain significance10102504328102504328Humanname , trait , alternate_id
401962334CV2843122single nucleotide variantNM_016169.4(SUFU):c.229G>A (p.Val77Met)Gorlin syndrome [RCV003779187]|not provided [RCV003477382]uncertain significance10102509215102509215Human2name
405001112CV3082203single nucleotide variantNM_016169.4(SUFU):c.145C>G (p.Pro49Ala)Gorlin syndrome [RCV003783460]uncertain significance10102504297102504297Human2name
404999140CV3084874single nucleotide variantNM_016169.4(SUFU):c.1263G>A (p.Glu421=)Gorlin syndrome [RCV003793548]|Hereditary cancer-predisposing syndrome [RCV004366591]likely benign10102617395102617395Human3name
404995053CV3085336single nucleotide variantNM_016169.4(SUFU):c.254C>T (p.Pro85Leu)Gorlin syndrome [RCV003782867]|Hereditary cancer-predisposing syndrome [RCV005291031]uncertain significance10102509240102509240Human3name
402522057CV3086532single nucleotide variantNM_016169.4(SUFU):c.136C>T (p.Pro46Ser)Gorlin syndrome [RCV003781148]|Hereditary cancer-predisposing syndrome [RCV004673973]uncertain significance10102504288102504288Human3name
405003335CV3095671deletionNM_016169.4(SUFU):c.14_33del (p.Arg5fs)Gorlin syndrome [RCV003793976]pathogenic10102504164102504183Human2name
405027478CV3098046single nucleotide variantNM_016169.4(SUFU):c.242C>A (p.Ser81Tyr)Gorlin syndrome [RCV003806339]uncertain significance10102509228102509228Human2name
404977856CV3098891single nucleotide variantNM_016169.4(SUFU):c.1371A>G (p.Lys457=)Gorlin syndrome [RCV003790871]likely benign10102630071102630071Human2name
404980067CV3099526single nucleotide variantNM_016169.4(SUFU):c.1155A>G (p.Leu385=)Gorlin syndrome [RCV003791355]likely benign10102615400102615400Human2name
405016139CV3100617single nucleotide variantNM_016169.4(SUFU):c.136C>A (p.Pro46Thr)Gorlin syndrome [RCV003805365]|Hereditary cancer-predisposing syndrome [RCV005291041]uncertain significance10102504288102504288Human3name
405175976CV3101114single nucleotide variantNM_016169.4(SUFU):c.1179G>A (p.Arg393=)Gorlin syndrome [RCV003803501]|Hereditary cancer-predisposing syndrome [RCV004950694]likely benign10102617311102617311Human3name
405180211CV3101737single nucleotide variantNM_016169.4(SUFU):c.256G>T (p.Glu86Ter)Gorlin syndrome [RCV003803950]pathogenic10102509242102509242Human2name
405172624CV3104672single nucleotide variantNM_016169.4(SUFU):c.209A>G (p.Tyr70Cys)Gorlin syndrome [RCV003803170]uncertain significance10102509195102509195Human2name
405093489CV3105461duplicationNM_016169.4(SUFU):c.894dup (p.Arg299fs)Gorlin syndrome [RCV003801177]pathogenic10102597275102597276Human2name
405014758CV3106662single nucleotide variantNM_016169.4(SUFU):c.1308C>G (p.Thr436=)Gorlin syndrome [RCV003794999]likely benign10102627186102627186Human2name
405056303CV3107831single nucleotide variantNM_016169.4(SUFU):c.1446G>T (p.Pro482=)Gorlin syndrome [RCV003808576]|Hereditary cancer-predisposing syndrome [RCV004366641]likely benign10102630146102630146Human3name
405064523CV3108883single nucleotide variantNM_016169.4(SUFU):c.1140C>G (p.Leu380=)Gorlin syndrome [RCV003809293]likely benign10102615385102615385Human2name
405073121CV3111541single nucleotide variantNM_016169.4(SUFU):c.1233G>C (p.Thr411=)Gorlin syndrome [RCV003809881]likely benign10102617365102617365Human2name
405079004CV3114596single nucleotide variantNM_016169.4(SUFU):c.144G>T (p.Gln48His)Gorlin syndrome [RCV003810158]|Hereditary cancer-predisposing syndrome [RCV004950709]uncertain significance10102504296102504296Human3name
405707908CV3384286single nucleotide variantNM_016169.4(SUFU):c.1014C>T (p.Asp338=)Hereditary cancer-predisposing syndrome [RCV004522016]likely benign10102599536102599536Human1name
405707922CV3384288single nucleotide variantNM_016169.4(SUFU):c.1050C>T (p.Asp350=)Hereditary cancer-predisposing syndrome [RCV004522018]likely benign10102615295102615295Human1name
405707964CV3384293single nucleotide variantNM_016169.4(SUFU):c.1131C>G (p.Ser377=)Hereditary cancer-predisposing syndrome [RCV004522023]likely benign10102615376102615376Human1name
405707981CV3384295single nucleotide variantNM_016169.4(SUFU):c.120G>T (p.Glu40Asp)Gorlin syndrome [RCV005216239]|Hereditary cancer-predisposing syndrome [RCV004522025]uncertain significance10102504272102504272Human3name
405708013CV3384299single nucleotide variantNM_016169.4(SUFU):c.1275G>C (p.Ala425=)Hereditary cancer-predisposing syndrome [RCV004522029]likely benign10102617407102617407Human1name
405708019CV3384300single nucleotide variantNM_016169.4(SUFU):c.1275G>T (p.Ala425=)Hereditary cancer-predisposing syndrome [RCV004522030]likely benign10102617407102617407Human1name
405708025CV3384301single nucleotide variantNM_016169.4(SUFU):c.1281T>C (p.His427=)Gorlin syndrome [RCV005220935]|Hereditary cancer-predisposing syndrome [RCV004522031]likely benign10102617413102617413Human3name
405708062CV3384306single nucleotide variantNM_016169.4(SUFU):c.1348T>C (p.Leu450=)Gorlin syndrome [RCV005216241]|Hereditary cancer-predisposing syndrome [RCV004522036]likely benign10102627226102627226Human3name
405708105CV3384311deletionNM_016169.4(SUFU):c.22_38del (p.Gly8fs)Hereditary cancer-predisposing syndrome [RCV004522041]likely pathogenic10102504173102504189Human1name
405708112CV3384312single nucleotide variantNM_016169.4(SUFU):c.221A>G (p.Tyr74Cys)Hereditary cancer-predisposing syndrome [RCV004522042]uncertain significance10102509207102509207Human1name
407497039CV3481803single nucleotide variantNM_016169.4(SUFU):c.183G>T (p.Trp61Cys)Hereditary cancer-predisposing syndrome [RCV004668290]uncertain significance10102509169102509169Human1name
407530187CV3481804single nucleotide variantNM_016169.4(SUFU):c.237C>A (p.Ser79Arg)Hereditary cancer-predisposing syndrome [RCV004681731]uncertain significance10102509223102509223Human1name
407497062CV3481810single nucleotide variantNM_016169.4(SUFU):c.1420C>T (p.Leu474=)Hereditary cancer-predisposing syndrome [RCV004668295]likely benign10102630120102630120Human1name
407497068CV3481811single nucleotide variantNM_016169.4(SUFU):c.1383G>A (p.Glu461=)Hereditary cancer-predisposing syndrome [RCV004668296]likely benign10102630083102630083Human1name
407530192CV3481822single nucleotide variantNM_016169.4(SUFU):c.141C>G (p.Asp47Glu)Hereditary cancer-predisposing syndrome [RCV004681736]|not provided [RCV004775589]uncertain significance10102504293102504293Human1name
407507856CV3496302single nucleotide variantNM_016169.4(SUFU):c.264G>A (p.Trp88Ter)not provided [RCV004698143]uncertain significance10102509250102509250Humanname
407574503CV3499514single nucleotide variantNM_016169.4(SUFU):c.134A>C (p.Tyr45Ser)not provided [RCV004719509]uncertain significance10102504286102504286Humanname
596931532CV3531867single nucleotide variantNM_016169.4(SUFU):c.154C>T (p.Leu52Phe)not provided [RCV004781429]uncertain significance10102504306102504306Humanname
596927819CV3532729single nucleotide variantNM_016169.4(SUFU):c.196G>T (p.Asp66Tyr)not provided [RCV004778827]uncertain significance10102509182102509182Humanname
596925143CV3536935single nucleotide variantNM_016169.4(SUFU):c.164C>T (p.Thr55Ile)Joubert syndrome 32 [RCV004785929]uncertain significance10102504316102504316Human1name
597671440CV3611888single nucleotide variantNM_016169.4(SUFU):c.250A>G (p.Ile84Val)Hereditary cancer-predisposing syndrome [RCV004949256]uncertain significance10102509236102509236Human1name
597671534CV3611901single nucleotide variantNM_016169.4(SUFU):c.217A>G (p.Met73Val)Hereditary cancer-predisposing syndrome [RCV004949268]uncertain significance10102509203102509203Human1name
597671541CV3611902single nucleotide variantNM_016169.4(SUFU):c.123C>G (p.Cys41Trp)Hereditary cancer-predisposing syndrome [RCV004949269]uncertain significance10102504275102504275Human1name
597648967CV3611904single nucleotide variantNM_016169.4(SUFU):c.257A>T (p.Glu86Val)Hereditary cancer-predisposing syndrome [RCV004949271]|not provided [RCV005000597]uncertain significance10102509243102509243Human1name
597833247CV3864084single nucleotide variantNM_016169.4(SUFU):c.1035C>T (p.Asp345=)Gorlin syndrome [RCV005209720]likely benign10102615280102615280Human2name
597886280CV3866598single nucleotide variantNM_016169.4(SUFU):c.1323G>A (p.Glu441=)Gorlin syndrome [RCV005218074]likely benign10102627201102627201Human2name
597838407CV3866986single nucleotide variantNM_016169.4(SUFU):c.193C>T (p.Pro65Ser)Gorlin syndrome [RCV005225978]uncertain significance10102509179102509179Human2name
597922390CV3867289single nucleotide variantNM_016169.4(SUFU):c.1431G>T (p.Val477=)Gorlin syndrome [RCV005223715]likely benign10102630131102630131Human2name
597853886CV3869843single nucleotide variantNM_016169.4(SUFU):c.107C>G (p.Ala36Gly)Gorlin syndrome [RCV005213128]uncertain significance10102504259102504259Human2name
597860837CV3874781single nucleotide variantNM_016169.4(SUFU):c.1287C>T (p.Pro429=)Gorlin syndrome [RCV005214122]likely benign10102617419102617419Human2name
597898965CV3876141single nucleotide variantNM_016169.4(SUFU):c.155T>C (p.Leu52Pro)Gorlin syndrome [RCV005220031]uncertain significance10102504307102504307Human2name
597899115CV3876162single nucleotide variantNM_016169.4(SUFU):c.105C>G (p.His35Gln)Gorlin syndrome [RCV005220052]uncertain significance10102504257102504257Human2name
597924400CV3877285deletionNM_016169.4(SUFU):c.661del (p.Glu221fs)Gorlin syndrome [RCV005223981]pathogenic10102593698102593698Human2name
597930410CV3879318single nucleotide variantNM_016169.4(SUFU):c.204G>T (p.Leu68Phe)Gorlin syndrome [RCV005224815]uncertain significance10102509190102509190Human2name
598221226CV3916253single nucleotide variantNM_016169.4(SUFU):c.296A>T (p.Tyr99Phe)Hereditary cancer-predisposing syndrome [RCV005293596]uncertain significance10102509282102509282Human1name
598221250CV3916257single nucleotide variantNM_016169.4(SUFU):c.186G>T (p.Leu62Phe)Hereditary cancer-predisposing syndrome [RCV005293600]uncertain significance10102509172102509172Human1name
598263416CV3916259single nucleotide variantNM_016169.4(SUFU):c.191G>T (p.Gly64Val)Hereditary cancer-predisposing syndrome [RCV005280509]uncertain significance10102509177102509177Human1name
598263420CV3916260single nucleotide variantNM_016169.4(SUFU):c.1377C>G (p.Pro459=)Hereditary cancer-predisposing syndrome [RCV005280510]likely benign10102630077102630077Human1name
598263425CV3916265single nucleotide variantNM_016169.4(SUFU):c.1302G>T (p.Leu434=)Hereditary cancer-predisposing syndrome [RCV005280512]likely benign10102627180102627180Human1name
13494654CV459624single nucleotide variantNM_016169.4(SUFU):c.1005C>T (p.Leu335=)Gorlin syndrome [RCV000536560]|Hereditary cancer-predisposing syndrome [RCV002413425]|not provided [RCV005000108]likely benign|uncertain significance10102599527102599527Human3name
13490827CV460514single nucleotide variantNM_016169.4(SUFU):c.1104C>T (p.Ser368=)Gorlin syndrome [RCV000556265]|Hereditary cancer-predisposing syndrome [RCV001009900]likely benign10102615349102615349Human3name
13487062CV460515single nucleotide variantNM_016169.4(SUFU):c.1191T>C (p.Tyr397=)Familial meningioma [RCV005235375]|Gorlin syndrome [RCV001487541]|Hereditary cancer-predisposing syndrome [RCV002341242]benign|likely benign10102617323102617323Human4name
13474325CV460520single nucleotide variantNM_016169.4(SUFU):c.1272C>T (p.Tyr424=)Familial meningioma [RCV005235376]|Gorlin syndrome [RCV000544212]|Hereditary cancer-predisposing syndrome [RCV000572288]|not provided [RCV003424083]|not specified [RCV005231009]benign|likely benign10102617404102617404Human4name
13493413CV475247single nucleotide variantNM_016169.4(SUFU):c.1008C>T (p.Ala336=)Gorlin syndrome [RCV001486065]|Hereditary cancer-predisposing syndrome [RCV000571000]|SUFU-related disorder [RCV004553291]likely benign10102599530102599530Human4name , alternate_id
13608453CV525136single nucleotide variantNM_016169.4(SUFU):c.1254C>T (p.Ala418=)Gorlin syndrome [RCV000628522]|Hereditary cancer-predisposing syndrome [RCV002420668]likely benign10102617386102617386Human3name
13608411CV525257single nucleotide variantNM_016169.4(SUFU):c.225G>T (p.Arg75Ser)Familial meningioma [RCV004568352]|Gorlin syndrome [RCV000628508]|Hereditary cancer-predisposing syndrome [RCV001014963]uncertain significance10102509211102509211Human4name
13608456CV525286single nucleotide variantNM_016169.4(SUFU):c.1446G>A (p.Pro482=)Gorlin syndrome [RCV000628523]|Hereditary cancer-predisposing syndrome [RCV001011627]|SUFU-related disorder [RCV004547773]|not provided [RCV003424198]likely benign10102630146102630146Human4name , alternate_id
13608440CV525451single nucleotide variantNM_016169.4(SUFU):c.1146T>C (p.Pro382=)Gorlin syndrome [RCV000628518]|Hereditary cancer-predisposing syndrome [RCV002457974]likely benign10102615391102615391Human3name
13814722CV563526single nucleotide variantNM_016169.4(SUFU):c.171C>G (p.Ile57Met)Gorlin syndrome [RCV000691076]uncertain significance10102504323102504323Human2name
13815675CV563531single nucleotide variantNM_016169.4(SUFU):c.175A>T (p.Lys59Ter)Gorlin syndrome [RCV000705859]pathogenic10102504327102504327Human2name
13804161CV564462single nucleotide variantNM_016169.4(SUFU):c.166G>T (p.Ala56Ser)Gorlin syndrome [RCV000685142]|Hereditary cancer-predisposing syndrome [RCV001012657]|not provided [RCV002485585]uncertain significance10102504318102504318Human3name
13807503CV564463single nucleotide variantNM_016169.4(SUFU):c.200C>G (p.Pro67Arg)Gorlin syndrome [RCV000686796]uncertain significance10102509186102509186Human2name
15178866CV712131single nucleotide variantNM_016169.4(SUFU):c.1317T>C (p.Phe439=)Gorlin syndrome [RCV000973769]|Hereditary cancer-predisposing syndrome [RCV002382195]likely benign10102627195102627195Human3name
15199779CV751925single nucleotide variantNM_016169.4(SUFU):c.1227C>G (p.Val409=)Gorlin syndrome [RCV000912650]|Hereditary cancer-predisposing syndrome [RCV002372535]likely benign10102617359102617359Human3name
15183750CV767601single nucleotide variantNM_016169.4(SUFU):c.1056C>T (p.Ser352=)Gorlin syndrome [RCV001488498]likely benign10102615301102615301Human2name
15182064CV767602single nucleotide variantNM_016169.4(SUFU):c.1077G>A (p.Glu359=)Gorlin syndrome [RCV001403350]likely benign10102615322102615322Human2name
25328016CV809817single nucleotide variantNM_016169.4(SUFU):c.224G>A (p.Arg75Lys)Gorlin syndrome [RCV005225204]|Hereditary cancer-predisposing syndrome [RCV001014927]uncertain significance10102509210102509210Human3name
25328557CV809818single nucleotide variantNM_016169.4(SUFU):c.256G>A (p.Glu86Lys)Familial meningioma [RCV003461354]|Gorlin syndrome [RCV001047839]|Gorlin syndrome [RCV002479213]|Hereditary cancer-predisposing syndrome [RCV001015983]|SUFU-related disorder [RCV004553556]|not provided [RCV004761873]uncertain significance10102509242102509242Human6name , alternate_id
25329171CV809856single nucleotide variantNM_016169.4(SUFU):c.1071C>T (p.Pro357=)Gorlin syndrome [RCV002551799]|Hereditary cancer-predisposing syndrome [RCV001017207]likely benign10102615316102615316Human3name
25322301CV809858single nucleotide variantNM_016169.4(SUFU):c.1089G>A (p.Thr363=)Gorlin syndrome [RCV002068812]|Hereditary cancer-predisposing syndrome [RCV001009880]likely benign10102615334102615334Human3name
25322494CV809861single nucleotide variantNM_016169.4(SUFU):c.1152C>T (p.Cys384=)Gorlin syndrome [RCV002068816]|Hereditary cancer-predisposing syndrome [RCV001010002]likely benign10102615397102615397Human3name
25323830CV809865single nucleotide variantNM_016169.4(SUFU):c.1302G>A (p.Leu434=)Gorlin syndrome [RCV003769435]|Hereditary cancer-predisposing syndrome [RCV001010866]likely benign10102627180102627180Human3name
25324420CV809867single nucleotide variantNM_016169.4(SUFU):c.1407G>A (p.Leu469=)Hereditary cancer-predisposing syndrome [RCV001011417]likely benign10102630107102630107Human1name
25324489CV809868single nucleotide variantNM_016169.4(SUFU):c.1413C>A (p.Val471=)Hereditary cancer-predisposing syndrome [RCV001011477]likely benign10102630113102630113Human1name
26918009CV836567single nucleotide variantNM_016169.4(SUFU):c.109A>G (p.Ile37Val)Familial meningioma [RCV003462569]|Gorlin syndrome [RCV001057455]|Hereditary cancer-predisposing syndrome [RCV002451239]|not provided [RCV004721731]benign|uncertain significance10102504261102504261Human4name
26914151CV836568single nucleotide variantNM_016169.4(SUFU):c.113A>G (p.Tyr38Cys)Gorlin syndrome [RCV001054758]|Hereditary cancer-predisposing syndrome [RCV004950190]uncertain significance10102504265102504265Human3name
26890773CV836570single nucleotide variantNM_016169.4(SUFU):c.151C>T (p.Pro51Ser)Gorlin syndrome [RCV001046161]|Hereditary cancer-predisposing syndrome [RCV002393227]uncertain significance10102504303102504303Human3name
26890153CV836571single nucleotide variantNM_016169.4(SUFU):c.233G>A (p.Gly78Glu)Gorlin syndrome [RCV001067737]|Hereditary cancer-predisposing syndrome [RCV005286306]uncertain significance10102509219102509219Human3name
26896849CV836586duplicationNM_016169.4(SUFU):c.847dup (p.Glu283fs)Gorlin syndrome [RCV001070045]pathogenic10102597229102597230Human2name
26916848CV836588deletionNM_016169.4(SUFU):c.892del (p.Arg298fs)Gorlin syndrome [RCV001056617]pathogenic10102597272102597272Human2name
38461607CV934929single nucleotide variantNM_016169.4(SUFU):c.178T>C (p.Tyr60His)Gorlin syndrome [RCV001212058]uncertain significance10102504330102504330Human2name
38480827CV934930single nucleotide variantNM_016169.4(SUFU):c.202T>G (p.Leu68Val)Gorlin syndrome [RCV001206591]uncertain significance10102509188102509188Human2name
38494949CV946793single nucleotide variantNM_016169.4(SUFU):c.139G>A (p.Asp47Asn)Gorlin syndrome [RCV001225407]|Hereditary cancer-predisposing syndrome [RCV004032533]uncertain significance10102504291102504291Human3name
38471974CV946794single nucleotide variantNM_016169.4(SUFU):c.242C>G (p.Ser81Cys)Gorlin syndrome [RCV001231356]uncertain significance10102509228102509228Human2name
38461918CV955969single nucleotide variantNM_016169.4(SUFU):c.253C>T (p.Pro85Ser)Gorlin syndrome [RCV001247052]uncertain significance10102509239102509239Human2name
8688487CV139024single nucleotide variantNM_016169.4(SUFU):c.1028G>A (p.Arg343His)Familial meningioma [RCV003467081]|Gorlin syndrome [RCV000466509]|Gorlin syndrome [RCV000763641]|Hereditary cancer-predisposing syndrome [RCV000566455]|Medulloblastoma [RCV000260834]|SUFU-related disorder [RCV004737208]|not provided [RCV001354923]|not specified benign|likely benign|uncertain significance|not provided10102615273102615273Human6alternate_id
155716629CV1822757single nucleotide variantNM_016169.4(SUFU):c.730A>G (p.Ile244Val)Hereditary cancer-predisposing syndrome [RCV002380036]|SUFU-related disorder [RCV004548281]uncertain significance10102594039102594039Human1alternate_id
11350172CV240729single nucleotide variantNM_016169.4(SUFU):c.839G>A (p.Arg280Gln)Craniopharyngioma [RCV000761145]|Gorlin syndrome [RCV000233540]|Hereditary cancer-predisposing syndrome [RCV000569366]|Medulloblastoma [RCV000319465]|SUFU-related disorder [RCV004547611]|not provided [RCV001843499]|not specified [RCV000508167]likely benign|conflicting interpretations of pathogenicity|uncertain significance10102597222102597222Human6alternate_id
11349297CV240732single nucleotide variantNM_016169.4(SUFU):c.1308C>T (p.Thr436=)Gorlin syndrome [RCV000229979]|Hereditary cancer-predisposing syndrome [RCV000571833]|Medulloblastoma [RCV001103678]|SUFU-related disorder [RCV004737386]|not specified [RCV002479923]benign|likely benign10102627186102627186Human4alternate_id
401933480CV2802068indelNM_016169.4(SUFU):c.1008_1012delinsTGAGGC (p.His337fs)SUFU-related disorder [RCV004552568]likely pathogenic10102599530102599534Humantrait , alternate_id
12881721CV397098single nucleotide variantNM_016169.4(SUFU):c.1245C>T (p.Gly415=)Gorlin syndrome [RCV001084319]|Hereditary cancer-predisposing syndrome [RCV000573131]|SUFU-related disorder [RCV004551543]|not provided [RCV000505895]|not specified [RCV002475904]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance10102617377102617377Human4alternate_id
12887614CV397343single nucleotide variantNM_016169.4(SUFU):c.412G>A (p.Ala138Thr)Gorlin syndrome [RCV000469368]|Hereditary cancer-predisposing syndrome [RCV000561880]|SUFU-related disorder [RCV004551542]|not provided [RCV002056721]|not specified [RCV001821319]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance10102550064102550064Human4alternate_id
12888131CV397537single nucleotide variantNM_016169.4(SUFU):c.1221G>A (p.Thr407=)Gorlin syndrome [RCV000470327]|Hereditary cancer-predisposing syndrome [RCV001010391]|SUFU-related disorder [RCV004737544]likely benign10102617353102617353Human4alternate_id
13475646CV460502single nucleotide variantNM_016169.4(SUFU):c.671G>A (p.Arg224Gln)Gorlin syndrome [RCV000548813]|Hereditary cancer-predisposing syndrome [RCV001025573]|SUFU-related disorder [RCV004737604]|not provided [RCV004777704]uncertain significance10102593709102593709Human4alternate_id
13821340CV564472insertionNM_016169.4(SUFU):c.895_896insTGTGT (p.Arg299fs)Gorlin syndrome [RCV000695755]|Hereditary cancer-predisposing syndrome [RCV005286182]|SUFU-related disorder [RCV004737958]pathogenic|likely pathogenic10102597278102597279Human4alternate_id
14722379CV638693single nucleotide variantNM_016169.4(SUFU):c.1030A>C (p.Lys344Gln)Gorlin syndrome [RCV000813870]|Hereditary cancer-predisposing syndrome [RCV002381817]|SUFU-related disorder [RCV004549890]|not provided [RCV004768688]uncertain significance10102615275102615275Human4alternate_id
15160990CV687585single nucleotide variantNM_016169.4(SUFU):c.1188A>C (p.Thr396=)Gorlin syndrome [RCV000869125]|Hereditary cancer-predisposing syndrome [RCV002336804]|SUFU-related disorder [RCV004549956]likely benign10102617320102617320Human4alternate_id
127326118CV1140953insertionNM_016169.4(SUFU):c.1158-8_1158-7insCTGGorlin syndrome [RCV001506181]likely benign10102617282102617283Human2name
598125230CV3881506indelNM_016169.4(SUFU):c.757-27_757-26delinsCTnot specified [RCV005232412]likely benign10102597113102597114Humanname
598221195CV3916248indelNM_016169.4(SUFU):c.910+3_910+4delinsCCACHereditary cancer-predisposing syndrome [RCV005293591]uncertain significance10102597296102597297Humanname
156134882CV2097304indelNM_016169.4(SUFU):c.1365+18_1365+19delinsCCGorlin syndrome [RCV002890088]uncertain significance10102627261102627262Humanname
14732499CV664513insertionNM_016169.4(SUFU):c.455-215_455-214insCATTTnot provided [RCV000836615]benign10102592367102592368Humanname