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706 records found for search term Fancb
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8561978CV25906deletionFANCB, 3314-BP DELFanconi anemia complementation group B [RCV000011614]pathogenicHuman1name
8561980CV25908insertionFANCB, 1-BP INS, 811TFanconi anemia complementation group B [RCV000011616]pathogenicHumanname
8561977CV25905insertionFANCB, 1-BP INS, 1838TFanconi anemia complementation group B [RCV000011613]pathogenicHumanname
8561979CV25907deletionFANCB, 1-BP DEL, 1650TFanconi anemia complementation group B [RCV000011615]pathogenicHumanname
11630508CV352098single nucleotide variantNM_001018113.3(FANCB):c.*33T>CFanconi anemia complementation group B [RCV000397201]|VACTERL association, X-linked, with or without hydrocephalus [RCV000351888]benign|likely benignX1484353414843534Human2name
11628054CV352780single nucleotide variantNM_001018113.3(FANCB):c.*66T>GFanconi anemia complementation group B [RCV000294698]|VACTERL association, X-linked, with or without hydrocephalus [RCV000397206]benign|likely benignX1484350114843501Human2name
11628744CV352781single nucleotide variantNM_001018113.3(FANCB):c.*14T>CFanconi anemia complementation group B [RCV000364423]|VACTERL association, X-linked, with or without hydrocephalus [RCV000307702]|not provided [RCV001683459]benignX1484355314843553Human2name
11618478CV339001single nucleotide variantNM_001018113.3(FANCB):c.-229T>GFanconi anemia complementation group B [RCV000369353]|VACTERL association, X-linked, with or without hydrocephalus [RCV000314598]benignX1487302314873023Human2name
11612677CV339005single nucleotide variantNM_001018113.3(FANCB):c.-232G>AFanconi anemia complementation group B [RCV000375080]|VACTERL association, X-linked, with or without hydrocephalus [RCV000261702]likely benignX1487302614873026Human2name
11627070CV348579single nucleotide variantNM_001018113.3(FANCB):c.-230A>TFanconi anemia complementation group B [RCV000274513]|VACTERL association, X-linked, with or without hydrocephalus [RCV000329862]uncertain significanceX1487302414873024Human2name
11626700CV352786single nucleotide variantNM_001018113.3(FANCB):c.-173G>CFanconi anemia complementation group B [RCV000364217]|VACTERL association, X-linked, with or without hydrocephalus [RCV000268796]|X-linked central congenital hypothyroidism with late-onset testicular enlargement [RCV000851550]|not provided [RCV004713875]benign|likely benignX1486902514869025Human3name
28874941CV902835single nucleotide variantNM_001018113.3(FANCB):c.*151A>GFanconi anemia complementation group B [RCV001165571]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167167]uncertain significanceX1484341614843416Human2name
28880314CV902844single nucleotide variantNM_001018113.3(FANCB):c.-111A>GFanconi anemia complementation group B [RCV001167294]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167890]uncertain significanceX1486896314868963Human2name
28882378CV902845single nucleotide variantNM_001018113.3(FANCB):c.-219G>TFanconi anemia complementation group B [RCV001167891]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167892]uncertain significanceX1487301314873013Human2name
405149460CV3064737single nucleotide variantNM_001018113.3(FANCB):c.951+7C>TFanconi anemia [RCV003636686]likely benignX1486455314864553Human1name
13832120CV582611single nucleotide variantNM_001018113.3(FANCB):c.-70-1G>Cnot provided [RCV000722803]uncertain significanceX1486558114865581Humanname
127254795CV1086306single nucleotide variantNM_001018113.3(FANCB):c.2166-9T>CFanconi anemia [RCV001418625]likely benignX1484399014843990Human1name
150457225CV1214518single nucleotide variantNM_001018113.3(FANCB):c.2165+2T>GFanconi anemia [RCV001615390]uncertain significanceX1484450114844501Human1name
151354954CV1328021duplicationNM_001018113.3(FANCB):c.1497-3dupnot specified [RCV001819497]uncertain significanceX1484528814845289Humanname
151760959CV1404251single nucleotide variantNM_001018113.3(FANCB):c.1327-1G>AFanconi anemia [RCV002007855]|Fanconi anemia complementation group B [RCV005042633]|Glioma susceptibility 1 [RCV004555895]likely pathogenic|uncertain significanceX1485067514850675Human3name
153001824CV1684967single nucleotide variantNM_001018113.3(FANCB):c.1105-4T>CFanconi anemia [RCV002257243]uncertain significanceX1485795814857958Human1name
156384475CV1878604single nucleotide variantNM_001018113.3(FANCB):c.952-19A>GFanconi anemia [RCV003050752]likely benignX1485935314859353Human1name
156057115CV1930745single nucleotide variantNM_001018113.3(FANCB):c.952-14T>CFanconi anemia [RCV002638149]likely benignX1485934814859348Human1name
156437572CV1947579single nucleotide variantNM_001018113.3(FANCB):c.1496+8A>TFanconi anemia [RCV003107111]likely benignX1485049714850497Human1name
156394608CV1958785duplicationNM_001018113.3(FANCB):c.1928-5dupFanconi anemia [RCV002584240]benignX1484474414844745Human1name
156127114CV2036379single nucleotide variantNM_001018113.3(FANCB):c.1197+8T>CFanconi anemia [RCV002786024]likely benignX1485785414857854Human1name
156325534CV2054090deletionNM_001018113.3(FANCB):c.1927+9delFanconi anemia [RCV002810369]likely benignX1484484714844847Human1name
156264755CV2054091single nucleotide variantNM_001018113.3(FANCB):c.1927+8T>AFanconi anemia [RCV002792138]likely benignX1484484814844848Human1name
156309197CV2085881single nucleotide variantNM_001018113.3(FANCB):c.1198-3C>TFanconi anemia [RCV002898614]uncertain significanceX1485317014853170Human1name
156268219CV2136311deletionNM_001018113.3(FANCB):c.1326+7delFanconi anemia [RCV003009171]likely benignX1485303214853032Human1name
8561981CV25909single nucleotide variantNM_001018113.3(FANCB):c.1496+5G>AFanconi anemia complementation group B [RCV000011617]pathogenicX1485050014850500Human1name
401920975CV2802171single nucleotide variantNM_001018113.3(FANCB):c.1105-2A>GFANCB-related disorder [RCV003402801]likely pathogenicX1485795614857956Humanname , trait , alternate_id
405050705CV2879724deletionNM_001018113.3(FANCB):c.2166-8delFanconi anemia [RCV003522137]benignX1484398914843989Human1name
404991992CV2887368deletionNM_001018113.3(FANCB):c.1928-5delFanconi anemia [RCV003525163]benignX1484474514844745Human1name
405071714CV2908535single nucleotide variantNM_001018113.3(FANCB):c.1105-9A>TFanconi anemia [RCV003523871]likely benignX1485796314857963Human1name
405080333CV2913786single nucleotide variantNM_001018113.3(FANCB):c.1105-5A>GFanconi anemia [RCV003524518]likely benignX1485795914857959Human1name
405142893CV2936807single nucleotide variantNM_001018113.3(FANCB):c.1105-7T>GFanconi anemia [RCV003636069]likely benignX1485796114857961Human1name
405144463CV2939393single nucleotide variantNM_001018113.3(FANCB):c.951+13T>CFanconi anemia [RCV003636213]likely benignX1486454714864547Human1name
405161146CV3001012single nucleotide variantNM_001018113.3(FANCB):c.1326+7G>CFanconi anemia [RCV003637633]likely benignX1485303214853032Human1name
405140071CV3033903single nucleotide variantNM_001018113.3(FANCB):c.952-16G>AFanconi anemia [RCV003635746]likely benignX1485935014859350Human1name
405146449CV3054913single nucleotide variantNM_001018113.3(FANCB):c.2165+6G>AFanconi anemia [RCV003636416]uncertain significanceX1484449714844497Human1name
402474246CV3182718single nucleotide variantNM_001018113.3(FANCB):c.951+19T>CFanconi anemia [RCV003874961]likely benignX1486454114864541Human1name
11613762CV338992single nucleotide variantNM_001018113.3(FANCB):c.952-13C>TFanconi anemia [RCV002058826]|Fanconi anemia complementation group B [RCV000325870]|VACTERL association, X-linked, with or without hydrocephalus [RCV000271181]likely benign|uncertain significanceX1485934714859347Human3name
597849577CV3793111single nucleotide variantNM_001018113.3(FANCB):c.1198-9A>GFanconi anemia [RCV005145247]likely benignX1485317614853176Human1name
597968276CV3820882single nucleotide variantNM_001018113.3(FANCB):c.1327-7T>GFanconi anemia [RCV005165723]likely benignX1485068114850681Human1name
13612995CV534607single nucleotide variantNM_001018113.3(FANCB):c.1104+4A>GFanconi anemia [RCV000630929]uncertain significanceX1485917814859178Human1name
14975354CV678988single nucleotide variantNM_001018113.3(FANCB):c.2165+1G>TFanconi anemia complementation group B [RCV000851567]pathogenicX1484450214844502Human1name
8640389CV99373deletionNM_001018113.3(FANCB):c.1327-3delFANCB-related disorder [RCV004748562]|Fanconi Anemia, X-Linked [RCV000293716]|Fanconi anemia [RCV000471169]|Fanconi anemia complementation group B [RCV005229886]|Inborn genetic diseases [RCV002316226]|VACTERL with hydrocephalus [RCV000388053]|not provided [RCV00benignX1485067714850677Human4name , trait , alternate_id
127318815CV1159396duplicationNM_001018113.3(FANCB):c.1327-12dupFanconi anemia [RCV001521829]|not specified [RCV001821838]benign|likely benignX1485067614850677Human1name
150337530CV1173548single nucleotide variantNM_001018113.3(FANCB):c.1327-72C>Anot provided [RCV001541709]benignX1485074614850746Humanname
150418942CV1182062single nucleotide variantNM_001018113.3(FANCB):c.1496+77C>Tnot provided [RCV001550820]likely benignX1485042814850428Humanname
150430397CV1230859single nucleotide variantNM_001018113.3(FANCB):c.-70-144A>Gnot provided [RCV001641408]benignX1486572414865724Humanname
150510255CV1286755single nucleotide variantNM_001018113.3(FANCB):c.1497-60C>Tnot provided [RCV001720990]benignX1484534614845346Humanname
152152078CV1545671single nucleotide variantNM_001018113.3(FANCB):c.1197+11G>AFanconi anemia [RCV002179607]likely benignX1485785114857851Human1name
152028825CV1555542single nucleotide variantNM_001018113.3(FANCB):c.1326+16T>CFanconi anemia [RCV002185965]likely benignX1485302314853023Human1name
152111906CV1645978single nucleotide variantNM_001018113.3(FANCB):c.1928-20G>TFanconi anemia [RCV002215610]likely benignX1484476014844760Human1name
153001831CV1684974single nucleotide variantNM_001018113.3(FANCB):c.-191-13C>TFanconi anemia [RCV002257248]uncertain significanceX1486905614869056Human1name
156000989CV1872854single nucleotide variantNM_001018113.3(FANCB):c.1496+16C>AFanconi anemia [RCV003076584]likely benignX1485048914850489Human1name
156361490CV1904891single nucleotide variantNM_001018113.3(FANCB):c.2166-14T>CFanconi anemia [RCV002602529]likely benignX1484399514843995Human1name
156175350CV2038169single nucleotide variantNM_001018113.3(FANCB):c.1326+13A>GFanconi anemia [RCV002741992]benignX1485302614853026Human1name
156309327CV2123318single nucleotide variantNM_001018113.3(FANCB):c.1496+14A>GFanconi anemia [RCV002962525]likely benignX1485049114850491Human1name
156164378CV2135757single nucleotide variantNM_001018113.3(FANCB):c.2165+18G>AFanconi anemia [RCV002983127]likely benignX1484448514844485Human1name
405052037CV2869574single nucleotide variantNM_001018113.3(FANCB):c.1104+18A>CFanconi anemia [RCV003522225]likely benignX1485916414859164Human1name
405078225CV2879186single nucleotide variantNM_001018113.3(FANCB):c.1197+10T>CFanconi anemia [RCV003524333]likely benignX1485785214857852Human1name
405056120CV2885689single nucleotide variantNM_001018113.3(FANCB):c.1104+11T>CFanconi anemia [RCV003522557]likely benignX1485917114859171Human1name
405055640CV2888390duplicationNM_001018113.3(FANCB):c.1496+18dupFanconi anemia [RCV003522521]likely benignX1485048614850487Human1name
404992430CV2890680single nucleotide variantNM_001018113.3(FANCB):c.1327-10T>AFanconi anemia [RCV003525221]likely benignX1485068414850684Human1name
405067913CV2895686single nucleotide variantNM_001018113.3(FANCB):c.1927+13G>CFanconi anemia [RCV003523504]likely benignX1484484314844843Human1name
405144107CV2943814single nucleotide variantNM_001018113.3(FANCB):c.2165+18G>TFanconi anemia [RCV003636084]likely benignX1484448514844485Human1name
405145172CV2953898single nucleotide variantNM_001018113.3(FANCB):c.1496+10T>CFanconi anemia [RCV003636287]likely benignX1485049514850495Human1name
405152552CV2963408single nucleotide variantNM_001018113.3(FANCB):c.1497-20A>GFanconi anemia [RCV003636940]likely benignX1484530614845306Human1name
405156061CV2978167deletionNM_001018113.3(FANCB):c.1497-18delFanconi anemia [RCV003637219]likely benignX1484530414845304Human1name
405163305CV2997068single nucleotide variantNM_001018113.3(FANCB):c.1927+16C>TFanconi anemia [RCV003637802]likely benignX1484484014844840Human1name
405163743CV3008106single nucleotide variantNM_001018113.3(FANCB):c.1104+20T>GFanconi anemia [RCV003637861]likely benignX1485916214859162Human1name
405166475CV3017687single nucleotide variantNM_001018113.3(FANCB):c.1326+18A>GFanconi anemia [RCV003638108]likely benignX1485302114853021Human1name
405139542CV3033181single nucleotide variantNM_001018113.3(FANCB):c.1105-16T>AFanconi anemia [RCV003635697]likely benignX1485797014857970Human1name
405147066CV3052006single nucleotide variantNM_001018113.3(FANCB):c.2165+12T>GFanconi anemia [RCV003636466]likely benignX1484449114844491Human1name
405245065CV3161693single nucleotide variantNM_001018113.3(FANCB):c.1497-12G>TFanconi anemia [RCV003868406]likely benignX1484529814845298Human1name
405198418CV3164464single nucleotide variantNM_001018113.3(FANCB):c.1327-17T>GFanconi anemia [RCV003860521]likely benignX1485069114850691Human1name
405252090CV3177597single nucleotide variantNM_001018113.3(FANCB):c.1104+10A>GFanconi anemia [RCV003870555]likely benignX1485917214859172Human1name
597872288CV3805298deletionNM_001018113.3(FANCB):c.2166-15delFanconi anemia [RCV005148576]likely benignX1484399614843996Human1name
597897981CV3854478single nucleotide variantNM_001018113.3(FANCB):c.1104+18A>GFanconi anemia [RCV005201585]likely benignX1485916414859164Human1name
617153904CV4021389single nucleotide variantNM_001410764.1(FANCB):c.2604+30A>Gnot provided [RCV005425358]likely benignX1479715214797152Humanname
13467479CV470516single nucleotide variantNM_001018113.3(FANCB):c.2165+10A>TFanconi anemia [RCV000554739]|Fanconi anemia complementation group B [RCV003316676]benignX1484449314844493Human2name
14975346CV678995single nucleotide variantNM_001018113.3(FANCB):c.951+129A>CX-linked central congenital hypothyroidism with late-onset testicular enlargement [RCV000851557]|not provided [RCV001619841]benign|likely benignX1486443114864431Human1name
14975371CV679001single nucleotide variantNM_001018113.3(FANCB):c.-70-246C>TX-linked central congenital hypothyroidism with late-onset testicular enlargement [RCV000851551]|not provided [RCV001644841]benign|likely benignX1486582614865826Human1name
8640388CV99372single nucleotide variantNM_001018113.3(FANCB):c.1327-10T>CFanconi anemia [RCV000860237]|Fanconi anemia complementation group B [RCV000348663]|VACTERL association, X-linked, with or without hydrocephalus [RCV000394031]|X-linked central congenital hypothyroidism with late-onset testicular enlargement [RCV000851560]|not provided [RCV001711366]|not specified [benign|likely benignX1485068414850684Human4name
150409227CV1192457duplicationNM_001018113.3(FANCB):c.2166-229dupnot provided [RCV001565598]likely benignX1484420214844203Humanname
150485765CV1223068duplicationNM_001018113.3(FANCB):c.1496+148dupnot provided [RCV001617781]benignX1485034914850350Humanname
150444437CV1266530single nucleotide variantNM_001018113.3(FANCB):c.2165+138A>Gnot provided [RCV001690967]benignX1484436514844365Humanname
14975356CV678986single nucleotide variantNM_001018113.3(FANCB):c.2166-176A>GX-linked central congenital hypothyroidism with late-onset testicular enlargement [RCV000851569]|not provided [RCV001595045]benign|likely benignX1484415714844157Human1name
14975355CV678987single nucleotide variantNM_001018113.3(FANCB):c.2166-186T>CX-linked central congenital hypothyroidism with late-onset testicular enlargement [RCV000851568]|not provided [RCV001655609]benign|likely benignX1484416714844167Human1name
616936060CV4014313single nucleotide variantNM_001410764.1(FANCB):c.2487+7418C>Gnot provided [RCV005413807]likely benignX1483624214836242Humanname
14975340CV679002duplicationNM_152633.4(FANCB):c.-70-3463_951dupFanconi anemia complementation group B [RCV000851549]uncertain significanceX1486455914864560Human1name
9687289CV177703microsatelliteNM_001018113.3(FANCB):c.1105-26TATT[7]Fanconi anemia [RCV000200154]|Fanconi anemia complementation group B [RCV005229984]|Inborn genetic diseases [RCV002426730]|not specified [RCV000153229]likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicityX1485795614857957Humanname
11642475CV265613microsatelliteNM_001018113.3(FANCB):c.1105-26TATT[4]FANCB-related disorder [RCV003955428]|Fanconi anemia [RCV002059078]|Fanconi anemia complementation group B [RCV002502093]|Inborn genetic diseases [RCV002450802]|not specified [RCV000376235]benign|likely benignX1485795714857964Humanname , trait , alternate_id
15113960CV695893microsatelliteNM_001018113.3(FANCB):c.1105-26TATT[5]FANCB-related disorder [RCV003930401]|Fanconi anemia [RCV000872856]likely benignX1485795714857960Humanname , trait , alternate_id
127245703CV1086308single nucleotide variantNM_001018113.3(FANCB):c.18A>G (p.Ala6=)Fanconi anemia [RCV001416555]likely benignX1486549314865493Human1name
155995908CV2034947single nucleotide variantNM_001018113.3(FANCB):c.30C>T (p.Asn10=)Fanconi anemia [RCV002755959]likely benignX1486548114865481Human1name
405052372CV2880404single nucleotide variantNM_001018113.3(FANCB):c.93T>C (p.Asn31=)Fanconi anemia [RCV003522254]|not provided [RCV004598268]likely benignX1486541814865418Human1name
404986552CV2920838deletionNM_001018113.3(FANCB):c.1928-6_1928-5delFanconi anemia [RCV003524603]benignX1484474514844746Human1name
11628787CV348562single nucleotide variantNM_001018113.3(FANCB):c.69T>C (p.Leu23=)Fanconi anemia [RCV001081437]|Fanconi anemia complementation group B [RCV000309558]|VACTERL association, X-linked, with or without hydrocephalus [RCV000398187]|not provided [RCV000762608]benign|likely benignX1486544214865442Human3name
597885795CV3854844single nucleotide variantNM_001018113.3(FANCB):c.42G>A (p.Arg14=)Fanconi anemia [RCV005199689]likely benignX1486546914865469Human1name
13498831CV471781single nucleotide variantNM_001018113.3(FANCB):c.7A>G (p.Ser3Gly)Fanconi anemia [RCV000530363]likely benign|uncertain significanceX1486550414865504Human1name
150540672CV1296064single nucleotide variantNM_001018113.3(FANCB):c.21G>C (p.Met7Ile)not provided [RCV001760533]uncertain significanceX1486549014865490Humanname
151786316CV1348900single nucleotide variantNM_001018113.3(FANCB):c.16G>A (p.Ala6Thr)Fanconi anemia [RCV001897727]uncertain significanceX1486549514865495Human1name
151814784CV1360619single nucleotide variantNM_001018113.3(FANCB):c.17C>A (p.Ala6Glu)Fanconi anemia [RCV001878630]uncertain significanceX1486549414865494Human1name
152033133CV1610289single nucleotide variantNM_001018113.3(FANCB):c.111T>C (p.Pro37=)Fanconi anemia [RCV002124878]benignX1486540014865400Human1name
152114834CV1640830single nucleotide variantNM_001018113.3(FANCB):c.162A>G (p.Thr54=)Fanconi anemia [RCV002117042]likely benignX1486534914865349Human1name
155974456CV2079420single nucleotide variantNM_001018113.3(FANCB):c.123C>T (p.Pro41=)Fanconi anemia [RCV002881638]likely benignX1486538814865388Human1name
156059361CV2154882single nucleotide variantNM_001018113.3(FANCB):c.192T>C (p.Phe64=)Fanconi anemia [RCV003000146]likely benignX1486531914865319Human1name
401944327CV2840736single nucleotide variantNM_001018113.3(FANCB):c.25T>C (p.Ser9Pro)not provided [RCV003457178]uncertain significanceX1486548614865486Humanname
404989661CV2886044single nucleotide variantNM_001018113.3(FANCB):c.153C>T (p.Asp51=)Fanconi anemia [RCV003524890]benignX1486535814865358Human1name
404991037CV2886889single nucleotide variantNM_001018113.3(FANCB):c.207A>G (p.Glu69=)Fanconi anemia [RCV003525062]likely benignX1486530414865304Human1name
405064443CV2901780single nucleotide variantNM_001018113.3(FANCB):c.23C>T (p.Ser8Leu)Fanconi anemia [RCV003523380]uncertain significanceX1486548814865488Human1name
405144912CV2957289single nucleotide variantNM_001018113.3(FANCB):c.171T>C (p.Phe57=)Fanconi anemia [RCV003636255]likely benignX1486534014865340Human1name
405145287CV2960872single nucleotide variantNM_001018113.3(FANCB):c.291A>G (p.Glu97=)Fanconi anemia [RCV003636299]likely benignX1486522014865220Human1name
405139760CV3033473single nucleotide variantNM_001018113.3(FANCB):c.273C>T (p.Leu91=)Fanconi anemia [RCV003635716]likely benignX1486523814865238Human1name
405290062CV3214099single nucleotide variantNM_001018113.3(FANCB):c.285G>A (p.Val95=)FANCB-related disorder [RCV003926936]likely benignX1486522614865226Humanname , trait , alternate_id
597947264CV3841886single nucleotide variantNM_001018113.3(FANCB):c.129A>G (p.Leu43=)Fanconi anemia [RCV005189320]likely benignX1486538214865382Human1name
15178818CV773822single nucleotide variantNM_001018113.3(FANCB):c.177G>A (p.Gln59=)Fanconi anemia [RCV001483438]likely benignX1486533414865334Human1name
28880310CV902843single nucleotide variantNM_001018113.3(FANCB):c.183C>T (p.Ser61=)Fanconi anemia [RCV001466611]|Fanconi anemia complementation group B [RCV001167292]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167293]likely benign|uncertain significanceX1486532814865328Human3name
127267393CV1108054single nucleotide variantNM_001018113.3(FANCB):c.708G>A (p.Val236=)Fanconi anemia [RCV001429672]likely benignX1486480314864803Human1name
127303932CV1150458single nucleotide variantNM_001018113.3(FANCB):c.318A>G (p.Glu106=)Fanconi anemia [RCV001499513]likely benignX1486519314865193Human1name
127318001CV1159397single nucleotide variantNM_001018113.3(FANCB):c.774C>G (p.Ala258=)Fanconi anemia [RCV001521452]benignX1486473714864737Human1name
150553943CV1309621microsatelliteNM_001018113.3(FANCB):c.1197+19_1197+21delFanconi anemia [RCV002074046]|not provided [RCV003238666]benign|uncertain significanceX1485784114857843Humanname
151802642CV1437623single nucleotide variantNM_001018113.3(FANCB):c.76C>G (p.Gln26Glu)Fanconi anemia [RCV001899201]|Fanconi anemia complementation group B [RCV005040447]uncertain significanceX1486543514865435Human2name
152166662CV1524425single nucleotide variantNM_001018113.3(FANCB):c.990A>T (p.Ile330=)Fanconi anemia [RCV002141970]likely benignX1485929614859296Human1name
152139076CV1549634deletionNM_001018113.3(FANCB):c.1197+13_1197+15delFanconi anemia [RCV002156526]likely benignX1485784714857849Human1name
152139564CV1562840deletionNM_001018113.3(FANCB):c.1327-19_1327-16delFanconi anemia [RCV002100582]likely benignX1485069014850693Human1name
152061419CV1597200single nucleotide variantNM_001018113.3(FANCB):c.667T>C (p.Leu223=)Fanconi anemia [RCV002208697]likely benignX1486484414864844Human1name
152042272CV1603409single nucleotide variantNM_001018113.3(FANCB):c.939A>G (p.Lys313=)FANCB-related disorder [RCV003941257]|Fanconi anemia [RCV002071174]likely benignX1486457214864572Human1name , trait , alternate_id
152157502CV1615939single nucleotide variantNM_001018113.3(FANCB):c.885A>G (p.Gly295=)Fanconi anemia [RCV002159040]likely benignX1486462614864626Human1name
156021631CV1882373single nucleotide variantNM_001018113.3(FANCB):c.381C>T (p.Gly127=)Fanconi anemia [RCV003077649]likely benignX1486513014865130Human1name
156413016CV1891519deletionNM_001018113.3(FANCB):c.1326+13_1326+14delFanconi anemia [RCV003073122]likely benignX1485302514853026Human1name
156019561CV1914934single nucleotide variantNM_001018113.3(FANCB):c.699C>T (p.Tyr233=)Fanconi anemia [RCV002636640]likely benignX1486481214864812Human1name
156180405CV1924442single nucleotide variantNM_001018113.3(FANCB):c.53A>T (p.Tyr18Phe)Fanconi anemia [RCV002625020]uncertain significanceX1486545814865458Human1name
156092390CV1963415single nucleotide variantNM_001018113.3(FANCB):c.300A>G (p.Lys100=)Fanconi anemia [RCV002570271]likely benignX1486521114865211Human1name
156113891CV1985084single nucleotide variantNM_001018113.3(FANCB):c.795G>T (p.Leu265=)Fanconi anemia [RCV002622685]likely benignX1486471614864716Human1name
156405651CV1994511single nucleotide variantNM_001018113.3(FANCB):c.64G>A (p.Val22Ile)Fanconi anemia [RCV002658359]|Inborn genetic diseases [RCV004066728]uncertain significanceX1486544714865447Human2name
156203241CV2034832single nucleotide variantNM_001018113.3(FANCB):c.591T>G (p.Thr197=)Fanconi anemia [RCV002766319]likely benignX1486492014864920Human1name
156107923CV2072407single nucleotide variantNM_001018113.3(FANCB):c.468A>G (p.Gln156=)Fanconi anemia [RCV002870784]likely benignX1486504314865043Human1name
156121073CV2078006single nucleotide variantNM_001018113.3(FANCB):c.417C>G (p.Gly139=)Fanconi anemia [RCV002889564]likely benignX1486509414865094Human1name
156017479CV2083622single nucleotide variantNM_001018113.3(FANCB):c.906C>T (p.Ser302=)Fanconi anemia [RCV002866433]likely benignX1486460514864605Human1name
155984372CV2101328single nucleotide variantNM_001018113.3(FANCB):c.501T>C (p.Phe167=)Fanconi anemia [RCV002882085]likely benignX1486501014865010Human1name
156366203CV2130659single nucleotide variantNM_001018113.3(FANCB):c.41G>A (p.Arg14Lys)Fanconi anemia [RCV002967325]|Fanconi anemia complementation group B [RCV005045120]|Inborn genetic diseases [RCV004068318]likely benign|uncertain significanceX1486547014865470Human3name
156176024CV2278258single nucleotide variantNM_001018113.3(FANCB):c.63A>C (p.Glu21Asp)Inborn genetic diseases [RCV002873384]uncertain significanceX1486544814865448Human1name
156015388CV2298794single nucleotide variantNM_001018113.3(FANCB):c.38A>C (p.Glu13Ala)Inborn genetic diseases [RCV002884494]uncertain significanceX1486547314865473Human1name
11523039CV245223single nucleotide variantNM_001018113.3(FANCB):c.507T>C (p.Ser169=)FANCB-related disorder [RCV003955391]|Fanconi anemia [RCV000235236]|not provided [RCV003237800]|not specified [RCV001820790]benign|likely benignX1486500414865004Human1name , trait , alternate_id
401940912CV2837725single nucleotide variantNM_001018113.3(FANCB):c.83C>G (p.Ser28Cys)Fanconi anemia [RCV005100159]|Fanconi anemia complementation group B [RCV003460177]uncertain significanceX1486542814865428Human2name
405078255CV2875507single nucleotide variantNM_001018113.3(FANCB):c.41G>C (p.Arg14Thr)Fanconi anemia [RCV003524336]uncertain significanceX1486547014865470Human1name
405076054CV2877653single nucleotide variantNM_001018113.3(FANCB):c.987G>C (p.Leu329=)Fanconi anemia [RCV003524165]likely benignX1485929914859299Human1name
405051597CV2879915single nucleotide variantNM_001018113.3(FANCB):c.744C>A (p.Ile248=)Fanconi anemia [RCV003522187]likely benignX1486476714864767Human1name
404990000CV2886287single nucleotide variantNM_001018113.3(FANCB):c.378A>G (p.Leu126=)Fanconi anemia [RCV003524954]likely benignX1486513314865133Human1name
404992002CV2887375single nucleotide variantNM_001018113.3(FANCB):c.480T>A (p.Val160=)Fanconi anemia [RCV003525164]likely benignX1486503114865031Human1name
405058005CV2888783microsatelliteNM_001018113.3(FANCB):c.1104+20_1104+22delFanconi anemia [RCV003522603]likely benignX1485916014859162Humanname
405055295CV2891884single nucleotide variantNM_001018113.3(FANCB):c.447A>T (p.Ala149=)Fanconi anemia [RCV003522497]likely benignX1486506414865064Human1name
405066208CV2895901single nucleotide variantNM_001018113.3(FANCB):c.864A>G (p.Gln288=)Fanconi anemia [RCV003523514]benignX1486464714864647Human1name
405068137CV2903379single nucleotide variantNM_001018113.3(FANCB):c.852T>C (p.Pro284=)Fanconi anemia [RCV003523627]likely benignX1486465914864659Human1name
405079705CV2909018single nucleotide variantNM_001018113.3(FANCB):c.795G>A (p.Leu265=)Fanconi anemia [RCV003524465]likely benignX1486471614864716Human1name
405057676CV2922890deletionNM_001018113.3(FANCB):c.1496+19_1496+21delFanconi anemia [RCV003522707]likely benignX1485048414850486Human1name
405057855CV2932427single nucleotide variantNM_001018113.3(FANCB):c.666A>G (p.Val222=)Fanconi anemia [RCV003522721]likely benignX1486484514864845Human1name
405154481CV2972991single nucleotide variantNM_001018113.3(FANCB):c.615T>C (p.Tyr205=)Fanconi anemia [RCV003637091]likely benignX1486489614864896Human1name
405153595CV2975147single nucleotide variantNM_001018113.3(FANCB):c.603A>C (p.Ser201=)Fanconi anemia [RCV003637024]likely benignX1486490814864908Human1name
405163089CV3000218single nucleotide variantNM_001018113.3(FANCB):c.339C>T (p.His113=)Fanconi anemia [RCV003637785]likely benignX1486517214865172Human1name
405137557CV3026575single nucleotide variantNM_001018113.3(FANCB):c.702C>T (p.Ser234=)Fanconi anemia [RCV003635497]benignX1486480914864809Human1name
405140777CV3043491single nucleotide variantNM_001018113.3(FANCB):c.49T>C (p.Cys17Arg)Fanconi anemia [RCV003635814]uncertain significanceX1486546214865462Human1name
405141211CV3043775single nucleotide variantNM_001018113.3(FANCB):c.77A>G (p.Gln26Arg)Fanconi anemia [RCV003635855]|Fanconi anemia complementation group B [RCV005047802]uncertain significanceX1486543414865434Human2name
405151317CV3070419single nucleotide variantNM_001018113.3(FANCB):c.447A>G (p.Ala149=)Fanconi anemia [RCV003636846]likely benignX1486506414865064Human1name
405160447CV3077404microsatelliteNM_001018113.3(FANCB):c.2166-15_2166-12delFanconi anemia [RCV003637573]likely benignX1484399314843996Humanname
405031373CV3130238single nucleotide variantNM_001018113.3(FANCB):c.720A>G (p.Val240=)Fanconi anemia [RCV003830645]likely benignX1486479114864791Human1name
405228870CV3153407single nucleotide variantNM_001018113.3(FANCB):c.876A>G (p.Ser292=)Fanconi anemia [RCV003848471]likely benignX1486463514864635Human1name
405247271CV3158738single nucleotide variantNM_001018113.3(FANCB):c.372T>C (p.Phe124=)Fanconi anemia [RCV003869080]likely benignX1486513914865139Human1name
405247649CV3159009single nucleotide variantNM_001018113.3(FANCB):c.408C>T (p.Val136=)Fanconi anemia [RCV003869154]likely benignX1486510314865103Human1name
405237521CV3166643single nucleotide variantNM_001018113.3(FANCB):c.483T>C (p.Val161=)Fanconi anemia [RCV003854093]likely benignX1486502814865028Human1name
405227138CV3169542single nucleotide variantNM_001018113.3(FANCB):c.735T>C (p.Thr245=)Fanconi anemia [RCV003864566]likely benignX1486477614864776Human1name
402474119CV3172261single nucleotide variantNM_001018113.3(FANCB):c.417C>A (p.Gly139=)Fanconi anemia [RCV003874864]likely benignX1486509414865094Human1name
405252168CV3177641single nucleotide variantNM_001018113.3(FANCB):c.681C>T (p.Tyr227=)Fanconi anemia [RCV003870599]likely benignX1486483014864830Human1name
11627243CV352102single nucleotide variantNM_001018113.3(FANCB):c.402A>G (p.Leu134=)Fanconi anemia [RCV000470748]|Fanconi anemia complementation group B [RCV000373701]|History of neurodevelopmental disorder [RCV000721057]|VACTERL association, X-linked, with or without hydrocephalus [RCV000279173]|not specified [RCV001821127]benign|likely benignX1486510914865109Human3name
597941250CV3785745single nucleotide variantNM_001018113.3(FANCB):c.726T>A (p.Ile242=)Fanconi anemia [RCV005133637]likely benignX1486478514864785Human1name
597950634CV3846978single nucleotide variantNM_001018113.3(FANCB):c.465T>C (p.Ser155=)Fanconi anemia [RCV005190149]likely benignX1486504614865046Human1name
597937885CV3862799single nucleotide variantNM_001018113.3(FANCB):c.31G>A (p.Glu11Lys)Fanconi anemia [RCV005208072]uncertain significanceX1486548014865480Human1name
13468837CV471324single nucleotide variantNM_001018113.3(FANCB):c.897C>T (p.Phe299=)Fanconi anemia [RCV000560050]benignX1486461414864614Human1name
13499268CV471332single nucleotide variantNM_001018113.3(FANCB):c.52T>C (p.Tyr18His)Fanconi anemia [RCV000532263]|Fanconi anemia complementation group B [RCV004783803]likely benign|conflicting interpretations of pathogenicity|uncertain significanceX1486545914865459Human2name
13467229CV471774single nucleotide variantNM_001018113.3(FANCB):c.330A>C (p.Leu110=)Fanconi anemia [RCV000553960]|Fanconi anemia complementation group B [RCV002490945]|Fanconi anemia complementation group B [RCV003316677]|not provided [RCV004808748]benign|likely benignX1486518114865181Human2name
13500921CV471777single nucleotide variantNM_001018113.3(FANCB):c.30C>A (p.Asn10Lys)Fanconi anemia [RCV000538919]benign|likely benign|uncertain significanceX1486548114865481Human1name
13466890CV472072single nucleotide variantNM_001018113.3(FANCB):c.741C>A (p.Ile247=)Fanconi anemia [RCV000552940]likely benignX1486477014864770Human1name
13613115CV534564single nucleotide variantNM_001018113.3(FANCB):c.960T>G (p.Ala320=)Fanconi anemia [RCV000630984]benignX1485932614859326Human1name
13809737CV575342single nucleotide variantNM_001018113.3(FANCB):c.552G>A (p.Leu184=)FANCB-related disorder [RCV003965438]|Fanconi anemia [RCV000687904]benign|likely benign|uncertain significanceX1486495914864959Human1name , trait , alternate_id
14975342CV678999duplicationNM_001018113.3(FANCB):c.195dup (p.Thr66fs)Fanconi anemia complementation group B [RCV000851553]pathogenicX1486531514865316Human1name
15143925CV689363single nucleotide variantNM_001018113.3(FANCB):c.801A>C (p.Ser267=)Fanconi anemia [RCV000865820]likely benignX1486471014864710Human1name
15160626CV689364single nucleotide variantNM_001018113.3(FANCB):c.609A>C (p.Ser203=)Fanconi anemia [RCV001499155]likely benignX1486490214864902Human1name
15162456CV689365single nucleotide variantNM_001018113.3(FANCB):c.513G>A (p.Gln171=)Fanconi anemia [RCV000869427]benignX1486499814864998Human1name
15098425CV689366single nucleotide variantNM_001018113.3(FANCB):c.504C>G (p.Ser168=)Fanconi anemia [RCV000869696]|Fanconi anemia complementation group B [RCV002495289]benign|likely benignX1486500714865007Human2name
15142445CV689367single nucleotide variantNM_001018113.3(FANCB):c.376C>T (p.Leu126=)Fanconi anemia [RCV001421963]likely benignX1486513514865135Human1name
15158579CV758316single nucleotide variantNM_001018113.3(FANCB):c.831C>T (p.Cys277=)not provided [RCV000925100]likely benignX1486468014864680Humanname
26918819CV849701single nucleotide variantNM_001018113.3(FANCB):c.30C>G (p.Asn10Lys)Fanconi anemia [RCV001058310]uncertain significanceX1486548114865481Human1name
126739677CV1014787single nucleotide variantNM_001018113.3(FANCB):c.292A>G (p.Lys98Glu)Fanconi anemia [RCV001325087]uncertain significanceX1486521914865219Human1name
127270374CV1086307single nucleotide variantNM_001018113.3(FANCB):c.197C>T (p.Thr66Ile)Fanconi anemia [RCV001404964]likely benignX1486531414865314Human1name
127272973CV1108053single nucleotide variantNM_001018113.3(FANCB):c.1767A>G (p.Thr589=)Fanconi anemia [RCV001431490]|Fanconi anemia complementation group B [RCV002504711]|not provided [RCV003438793]likely benignX1484501614845016Human2name
127307308CV1129422single nucleotide variantNM_001018113.3(FANCB):c.2193T>G (p.Leu731=)Fanconi anemia [RCV001462976]likely benignX1484395414843954Human1name
127332151CV1150456single nucleotide variantNM_001018113.3(FANCB):c.2142A>G (p.Glu714=)Fanconi anemia [RCV001489324]likely benignX1484452614844526Human1name
127315182CV1159395single nucleotide variantNM_001018113.3(FANCB):c.2553T>C (p.Phe851=)Fanconi anemia [RCV001519912]benignX1484359414843594Human1name
150551878CV1296285single nucleotide variantNM_001018113.3(FANCB):c.101A>T (p.Asp34Val)Inborn genetic diseases [RCV004040135]|not provided [RCV001767295]conflicting interpretations of pathogenicity|uncertain significanceX1486541014865410Human1name
150553942CV1309620single nucleotide variantNM_001018113.3(FANCB):c.164A>G (p.Lys55Arg)not provided [RCV003238665]uncertain significanceX1486534714865347Humanname
151356286CV1329050single nucleotide variantNM_001018113.3(FANCB):c.2265A>G (p.Leu755=)Fanconi anemia [RCV002074362]|not specified [RCV001822639]benign|likely benignX1484388214843882Human1name
151769254CV1410564single nucleotide variantNM_001018113.3(FANCB):c.1800A>G (p.Gln600=)Fanconi anemia [RCV001988079]uncertain significanceX1484498314844983Human1name
151724337CV1437052single nucleotide variantNM_001018113.3(FANCB):c.245T>C (p.Val82Ala)Fanconi anemia [RCV002004081]uncertain significanceX1486526614865266Human1name
151871979CV1437177single nucleotide variantNM_001018113.3(FANCB):c.203A>G (p.Lys68Arg)Fanconi anemia [RCV002035790]uncertain significanceX1486530814865308Human1name
151850569CV1448467single nucleotide variantNM_001018113.3(FANCB):c.113C>T (p.Thr38Ile)Fanconi anemia [RCV001957927]|Fanconi anemia complementation group B [RCV005042563]uncertain significanceX1486539814865398Human2name
151806397CV1482354single nucleotide variantNM_001018113.3(FANCB):c.1323G>A (p.Glu441=)Fanconi anemia [RCV002048447]likely benignX1485304214853042Human1name
152057756CV1523237single nucleotide variantNM_001018113.3(FANCB):c.2433C>G (p.Pro811=)Fanconi anemia [RCV002167650]likely benignX1484371414843714Human1name
152083494CV1525333single nucleotide variantNM_001018113.3(FANCB):c.1626A>G (p.Pro542=)Fanconi anemia [RCV002131130]likely benignX1484515714845157Human1name
152069668CV1535455single nucleotide variantNM_001018113.3(FANCB):c.1191A>G (p.Gly397=)Fanconi anemia [RCV002091412]likely benignX1485786814857868Human1name
152141788CV1538107single nucleotide variantNM_001018113.3(FANCB):c.1080G>C (p.Thr360=)Fanconi anemia [RCV002219471]likely benignX1485920614859206Human1name
152138564CV1570925single nucleotide variantNM_001018113.3(FANCB):c.1746A>G (p.Thr582=)Fanconi anemia [RCV002120042]likely benignX1484503714845037Human1name
152086955CV1571514single nucleotide variantNM_001018113.3(FANCB):c.2391C>T (p.Val797=)Fanconi anemia [RCV002131546]benignX1484375614843756Human1name
152083677CV1576868single nucleotide variantNM_001018113.3(FANCB):c.1149A>G (p.Lys383=)Fanconi anemia [RCV002193351]benignX1485791014857910Human1name
152117704CV1601000single nucleotide variantNM_001018113.3(FANCB):c.1314A>C (p.Ser438=)Fanconi anemia [RCV002097720]likely benignX1485305114853051Human1name
152049509CV1602419single nucleotide variantNM_001018113.3(FANCB):c.2517T>C (p.Thr839=)Fanconi anemia [RCV002127063]likely benignX1484363014843630Human1name
152086674CV1608405single nucleotide variantNM_001018113.3(FANCB):c.2391C>G (p.Val797=)Fanconi anemia [RCV002212135]likely benignX1484375614843756Human1name
152122313CV1613354single nucleotide variantNM_001018113.3(FANCB):c.2385T>C (p.Ser795=)Fanconi anemia [RCV002154419]|Fanconi anemia complementation group B [RCV002494483]likely benignX1484376214843762Human2name
152082553CV1641551single nucleotide variantNM_001018113.3(FANCB):c.2241A>C (p.Leu747=)Fanconi anemia [RCV002211610]likely benignX1484390614843906Human1name
152159933CV1642300single nucleotide variantNM_001018113.3(FANCB):c.1992A>T (p.Ser664=)Fanconi anemia [RCV002103605]likely benignX1484467614844676Human1name
152028320CV1655179single nucleotide variantNM_001018113.3(FANCB):c.1566G>A (p.Lys522=)Fanconi anemia [RCV002105193]likely benignX1484521714845217Human1name
153001826CV1684968single nucleotide variantNM_001018113.3(FANCB):c.124A>G (p.Ile42Val)Fanconi anemia [RCV002257244]uncertain significanceX1486538714865387Human1name
153001827CV1684969insertionNM_001018113.3(FANCB):c.1327-11_1327-10insCFanconi anemia [RCV002257245]conflicting interpretations of pathogenicity|uncertain significanceX1485068414850685Human1name
153001828CV1684970single nucleotide variantNM_001018113.3(FANCB):c.1383T>C (p.Asp461=)Fanconi anemia [RCV002257246]likely benignX1485061814850618Human1name
153305479CV1688564single nucleotide variantNM_001018113.3(FANCB):c.230T>C (p.Met77Thr)not specified [RCV002266300]uncertain significanceX1486528114865281Humanname
156391519CV1872869single nucleotide variantNM_001018113.3(FANCB):c.1428G>A (p.Glu476=)Fanconi anemia [RCV003051375]likely benignX1485057314850573Human1name
155954311CV1876581single nucleotide variantNM_001018113.3(FANCB):c.1683G>A (p.Glu561=)Fanconi anemia [RCV003074325]likely benignX1484510014845100Human1name
156367288CV1902793single nucleotide variantNM_001018113.3(FANCB):c.1611A>G (p.Ala537=)Fanconi anemia [RCV003092152]likely benignX1484517214845172Human1name
156301886CV1916144single nucleotide variantNM_001018113.3(FANCB):c.2496T>A (p.Gly832=)Fanconi anemia [RCV002599212]likely benignX1484365114843651Human1name
156419307CV1923313single nucleotide variantNM_001018113.3(FANCB):c.2397G>A (p.Ala799=)Fanconi anemia [RCV002612535]likely benignX1484375014843750Human1name
156410860CV1929154single nucleotide variantNM_001018113.3(FANCB):c.1234C>T (p.Leu412=)Fanconi anemia [RCV002608006]benignX1485313114853131Human1name
156224448CV1934464single nucleotide variantNM_001018113.3(FANCB):c.2139C>T (p.Phe713=)Fanconi anemia [RCV002644544]likely benignX1484452914844529Human1name
156441101CV1949365single nucleotide variantNM_001018113.3(FANCB):c.2439A>G (p.Arg813=)Fanconi anemia [RCV003111151]benignX1484370814843708Human1name
156446359CV1951398single nucleotide variantNM_001018113.3(FANCB):c.1104G>A (p.Ser368=)Fanconi anemia [RCV003117333]uncertain significanceX1485918214859182Human1name
10052972CV195603single nucleotide variantNM_001018113.3(FANCB):c.1371C>T (p.Val457=)Fanconi anemia [RCV001083348]|Fanconi anemia complementation group B [RCV000287960]|VACTERL association, X-linked, with or without hydrocephalus [RCV000352217]|not provided [RCV000487772]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significanceX1485063014850630Human3name
156391342CV2006210single nucleotide variantNM_001018113.3(FANCB):c.229A>G (p.Met77Val)Fanconi anemia [RCV002654412]uncertain significanceX1486528214865282Human1name
156161832CV2033909single nucleotide variantNM_001018113.3(FANCB):c.118A>G (p.Thr40Ala)Fanconi anemia [RCV002741573]|Fanconi anemia complementation group B [RCV005044963]uncertain significanceX1486539314865393Human2name
156239018CV2047249single nucleotide variantNM_001018113.3(FANCB):c.2575T>C (p.Leu859=)Fanconi anemia [RCV002805606]likely benignX1484357214843572Human1name
156224970CV2089324single nucleotide variantNM_001018113.3(FANCB):c.153C>G (p.Asp51Glu)Fanconi anemia [RCV002894330]uncertain significanceX1486535814865358Human1name
156048823CV2091337single nucleotide variantNM_001018113.3(FANCB):c.1521A>G (p.Ser507=)Fanconi anemia [RCV002886089]likely benignX1484526214845262Human1name
156116533CV2093209single nucleotide variantNM_001018113.3(FANCB):c.1620G>A (p.Leu540=)Fanconi anemia [RCV002913991]likely benignX1484516314845163Human1name
156225906CV2097430single nucleotide variantNM_001018113.3(FANCB):c.2404T>C (p.Leu802=)Fanconi anemia [RCV002894366]likely benignX1484374314843743Human1name
156184609CV2102608single nucleotide variantNM_001018113.3(FANCB):c.271C>T (p.Leu91Phe)Fanconi anemia [RCV002917257]|Fanconi anemia complementation group B [RCV003485796]uncertain significanceX1486524014865240Human2name
156364992CV2105862single nucleotide variantNM_001018113.3(FANCB):c.1542T>C (p.His514=)Fanconi anemia [RCV002941891]likely benignX1484524114845241Human1name
156137984CV2109626single nucleotide variantNM_001018113.3(FANCB):c.2238T>C (p.Asn746=)Fanconi anemia [RCV002928449]likely benignX1484390914843909Human1name
11523307CV245221single nucleotide variantNM_001018113.3(FANCB):c.235T>C (p.Cys79Arg)Fanconi anemia [RCV000235722]likely pathogenic|uncertain significanceX1486527614865276Human1name
401876237CV2750230deletionNM_001018113.3(FANCB):c.972del (p.Lys324fs)Fanconi anemia complementation group B [RCV003333679]likely pathogenicX1485931414859314Human1name
401937610CV2798816deletionNM_001018113.3(FANCB):c.851del (p.Pro284fs)FANCB-related disorder [RCV003416674]|Fanconi anemia [RCV003523168]pathogenic|likely pathogenicX1486466014864660Human1name , trait , alternate_id
401931064CV2823912single nucleotide variantNM_001018113.3(FANCB):c.1701A>G (p.Glu567=)Fanconi anemia [RCV003778450]|not provided [RCV003441030]likely benignX1484508214845082Human1name
405072829CV2865456single nucleotide variantNM_001018113.3(FANCB):c.2562G>A (p.Gln854=)Fanconi anemia [RCV003523906]likely benignX1484358514843585Human1name
405051412CV2869278single nucleotide variantNM_001018113.3(FANCB):c.2328C>T (p.Ala776=)Fanconi anemia [RCV003522171]likely benignX1484381914843819Human1name
405051486CV2869392single nucleotide variantNM_001018113.3(FANCB):c.2370G>A (p.Val790=)Fanconi anemia [RCV003522177]likely benignX1484377714843777Human1name
405052115CV2869682single nucleotide variantNM_001018113.3(FANCB):c.1521A>T (p.Ser507=)Fanconi anemia [RCV003522231]likely benignX1484526214845262Human1name
405052767CV2873448single nucleotide variantNM_001018113.3(FANCB):c.2539T>C (p.Leu847=)Fanconi anemia [RCV003522289]likely benignX1484360814843608Human1name
405053950CV2881269single nucleotide variantNM_001018113.3(FANCB):c.2091G>A (p.Pro697=)FANCB-related disorder [RCV003946698]|Fanconi anemia [RCV003522413]likely benignX1484457714844577Human1name , trait , alternate_id
405053086CV2884150single nucleotide variantNM_001018113.3(FANCB):c.2280A>T (p.Ala760=)Fanconi anemia [RCV003522314]likely benignX1484386714843867Human1name
404990019CV2886307single nucleotide variantNM_001018113.3(FANCB):c.2229C>T (p.Phe743=)Fanconi anemia [RCV003524956]likely benignX1484391814843918Human1name
404989891CV2889544single nucleotide variantNM_001018113.3(FANCB):c.2322T>G (p.Ser774=)Fanconi anemia [RCV003524943]likely benignX1484382514843825Human1name
405053507CV2891007single nucleotide variantNM_001018113.3(FANCB):c.1068A>G (p.Ser356=)Fanconi anemia [RCV003522350]likely benignX1485921814859218Human1name
404993463CV2895033single nucleotide variantNM_001018113.3(FANCB):c.1212T>G (p.Ser404=)Fanconi anemia [RCV003525342]likely benignX1485315314853153Human1name
405064639CV2899112single nucleotide variantNM_001018113.3(FANCB):c.2577A>G (p.Leu859=)Fanconi anemia [RCV003523394]likely benignX1484357014843570Human1name
405064783CV2899445single nucleotide variantNM_001018113.3(FANCB):c.1182A>G (p.Leu394=)Fanconi anemia [RCV003523406]likely benignX1485787714857877Human1name
405065892CV2899678single nucleotide variantNM_001018113.3(FANCB):c.2100C>T (p.Phe700=)Fanconi anemia [RCV003523491]likely benignX1484456814844568Human1name
405067994CV2902812single nucleotide variantNM_001018113.3(FANCB):c.1134C>T (p.Asp378=)Fanconi anemia [RCV003523555]likely benignX1485792514857925Human1name
405067305CV2906452single nucleotide variantNM_001018113.3(FANCB):c.2565A>G (p.Lys855=)Fanconi anemia [RCV003523592]likely benignX1484358214843582Human1name
405070368CV2907932single nucleotide variantNM_001018113.3(FANCB):c.2526A>T (p.Val842=)Fanconi anemia [RCV003523777]likely benignX1484362114843621Human1name
405070391CV2907959single nucleotide variantNM_001018113.3(FANCB):c.1062G>A (p.Leu354=)Fanconi anemia [RCV003523779]likely benignX1485922414859224Human1name
404987187CV2910287single nucleotide variantNM_001018113.3(FANCB):c.1167G>T (p.Leu389=)Fanconi anemia [RCV003524658]likely benignX1485789214857892Human1name
405078947CV2915701single nucleotide variantNM_001018113.3(FANCB):c.1581G>T (p.Val527=)Fanconi anemia [RCV003524393]benignX1484520214845202Human1name
405143808CV2945548single nucleotide variantNM_001018113.3(FANCB):c.1269C>T (p.Tyr423=)Fanconi anemia [RCV003636179]likely benignX1485309614853096Human1name
405143449CV2947888single nucleotide variantNM_001018113.3(FANCB):c.2415A>G (p.Arg805=)Fanconi anemia [RCV003636146]likely benignX1484373214843732Human1name
405144277CV2949117single nucleotide variantNM_001018113.3(FANCB):c.1440T>C (p.Tyr480=)Fanconi anemia [RCV003636195]likely benignX1485056114850561Human1name
405152004CV2959682single nucleotide variantNM_001018113.3(FANCB):c.2214C>A (p.Leu738=)Fanconi anemia [RCV003636902]likely benignX1484393314843933Human1name
405146066CV2962388single nucleotide variantNM_001018113.3(FANCB):c.2520G>A (p.Leu840=)Fanconi anemia [RCV003636380]likely benignX1484362714843627Human1name
405155072CV2966771single nucleotide variantNM_001018113.3(FANCB):c.2301A>G (p.Leu767=)Fanconi anemia [RCV003637138]likely benignX1484384614843846Human1name
405166655CV2997336single nucleotide variantNM_001018113.3(FANCB):c.1497G>T (p.Leu499=)Fanconi anemia [RCV003637828]uncertain significanceX1484528614845286Human1name
405163806CV3004463single nucleotide variantNM_001018113.3(FANCB):c.1563A>G (p.Leu521=)Fanconi anemia [RCV003637866]likely benignX1484522014845220Human1name
405166006CV3007141single nucleotide variantNM_001018113.3(FANCB):c.2244A>G (p.Lys748=)Fanconi anemia [RCV003638064]likely benignX1484390314843903Human1name
405138089CV3030516single nucleotide variantNM_001018113.3(FANCB):c.1725A>G (p.Val575=)Fanconi anemia [RCV003635551]likely benignX1484505814845058Human1name
405140029CV3036889single nucleotide variantNM_001018113.3(FANCB):c.1569T>C (p.Cys523=)Fanconi anemia [RCV003635742]likely benignX1484521414845214Human1name
405146856CV3045067single nucleotide variantNM_001018113.3(FANCB):c.2361G>A (p.Arg787=)Fanconi anemia [RCV003636449]likely benignX1484378614843786Human1name
405149669CV3058804single nucleotide variantNM_001018113.3(FANCB):c.2299C>T (p.Leu767=)Fanconi anemia [RCV003636705]likely benignX1484384814843848Human1name
405150018CV3058949single nucleotide variantNM_001018113.3(FANCB):c.1872A>C (p.Leu624=)Fanconi anemia [RCV003636734]likely benignX1484491114844911Human1name
405150078CV3059178single nucleotide variantNM_001018113.3(FANCB):c.1110A>G (p.Glu370=)Fanconi anemia [RCV003636740]likely benignX1485794914857949Human1name
405150441CV3059662single nucleotide variantNM_001018113.3(FANCB):c.2340T>C (p.His780=)Fanconi anemia [RCV003636773]likely benignX1484380714843807Human1name
405148713CV3064044single nucleotide variantNM_001018113.3(FANCB):c.2359A>C (p.Arg787=)Fanconi anemia [RCV003636618]likely benignX1484378814843788Human1name
405151059CV3066610single nucleotide variantNM_001018113.3(FANCB):c.1896C>T (p.Tyr632=)Fanconi anemia [RCV003636826]likely benignX1484488714844887Human1name
405147818CV3066672single nucleotide variantNM_001018113.3(FANCB):c.2556T>C (p.Ala852=)Fanconi anemia [RCV003636538]likely benignX1484359114843591Human1name
405160661CV3072388single nucleotide variantNM_001018113.3(FANCB):c.1251A>G (p.Lys417=)Fanconi anemia [RCV003637592]likely benignX1485311414853114Human1name
405159240CV3074428single nucleotide variantNM_001018113.3(FANCB):c.1788T>C (p.Thr596=)Fanconi anemia [RCV003637479]likely benignX1484499514844995Human1name
405160006CV3074594single nucleotide variantNM_001018113.3(FANCB):c.1818T>C (p.Ser606=)Fanconi anemia [RCV003637538]likely benignX1484496514844965Human1name
405151494CV3078882single nucleotide variantNM_001018113.3(FANCB):c.2136A>G (p.Pro712=)Fanconi anemia [RCV003636862]likely benignX1484453214844532Human1name
405211437CV3117772single nucleotide variantNM_001018113.3(FANCB):c.1614A>G (p.Pro538=)Fanconi anemia [RCV003823371]benignX1484516914845169Human1name
405123869CV3126414single nucleotide variantNM_001018113.3(FANCB):c.1887T>G (p.Thr629=)Fanconi anemia [RCV003815166]likely benignX1484489614844896Human1name
405117150CV3134383single nucleotide variantNM_001018113.3(FANCB):c.1617C>T (p.Tyr539=)Fanconi anemia [RCV003836985]likely benignX1484516614845166Human1name
405018295CV3135266single nucleotide variantNM_001018113.3(FANCB):c.1080G>A (p.Thr360=)Fanconi anemia [RCV003829537]likely benignX1485920614859206Human1name
405125022CV3136368single nucleotide variantNM_001018113.3(FANCB):c.2112C>T (p.Leu704=)Fanconi anemia [RCV003837698]likely benignX1484455614844556Human1name
405108482CV3136615single nucleotide variantNM_001018113.3(FANCB):c.2190C>T (p.Cys730=)Fanconi anemia [RCV003835769]likely benignX1484395714843957Human1name
405145706CV3141738single nucleotide variantNM_001018113.3(FANCB):c.2271T>C (p.Asp757=)Fanconi anemia [RCV003839660]likely benignX1484387614843876Human1name
405230865CV3157290single nucleotide variantNM_001018113.3(FANCB):c.1950A>G (p.Ala650=)Fanconi anemia [RCV003865240]likely benignX1484471814844718Human1name
402470185CV3171085single nucleotide variantNM_001018113.3(FANCB):c.2214C>G (p.Leu738=)Fanconi anemia [RCV003874048]likely benignX1484393314843933Human1name
405254713CV3175496single nucleotide variantNM_001018113.3(FANCB):c.2406A>G (p.Leu802=)Fanconi anemia [RCV003871763]likely benignX1484374114843741Human1name
405693240CV3226754single nucleotide variantNM_001410764.1(FANCB):c.2616C>T (p.Cys872=)not provided [RCV003993147]likely benignX1479691014796910Humanname
405693249CV3226768single nucleotide variantNM_001410764.1(FANCB):c.2692T>C (p.Leu898=)not provided [RCV003993161]likely benignX1479683414796834Humanname
407492268CV3432021single nucleotide variantNM_001018113.3(FANCB):c.190T>C (p.Phe64Leu)Inborn genetic diseases [RCV004620719]uncertain significanceX1486532114865321Human1name
597717241CV3729628single nucleotide variantNM_001018113.3(FANCB):c.218A>G (p.His73Arg)Fanconi anemia complementation group B [RCV005049301]uncertain significanceX1486529314865293Human1name
597968216CV3752217single nucleotide variantNM_001018113.3(FANCB):c.2130A>G (p.Arg710=)Fanconi anemia [RCV005083411]likely benignX1484453814844538Human1name
597970090CV3791827single nucleotide variantNM_001018113.3(FANCB):c.1857A>G (p.Arg619=)Fanconi anemia [RCV005141644]likely benignX1484492614844926Human1name
597907687CV3804226single nucleotide variantNM_001018113.3(FANCB):c.1455T>C (p.Asp485=)Fanconi anemia [RCV005153772]likely benignX1485054614850546Human1name
597856912CV3822186single nucleotide variantNM_001018113.3(FANCB):c.143T>C (p.Met48Thr)Fanconi anemia [RCV005174484]uncertain significanceX1486536814865368Human1name
597878654CV3825957single nucleotide variantNM_001018113.3(FANCB):c.167T>C (p.Val56Ala)Fanconi anemia [RCV005177831]uncertain significanceX1486534414865344Human1name
597868961CV3835092single nucleotide variantNM_001018113.3(FANCB):c.2064T>C (p.Phe688=)Fanconi anemia [RCV005176268]likely benignX1484460414844604Human1name
597888968CV3839524single nucleotide variantNM_001018113.3(FANCB):c.1842T>C (p.Tyr614=)Fanconi anemia [RCV005179416]likely benignX1484494114844941Human1name
597859628CV3850357single nucleotide variantNM_001018113.3(FANCB):c.1479T>C (p.Thr493=)Fanconi anemia [RCV005195690]likely benignX1485052214850522Human1name
616940049CV4014225single nucleotide variantNM_001018113.3(FANCB):c.1416A>G (p.Glu472=)not provided [RCV005413718]likely benignX1485058514850585Humanname
13215284CV430668single nucleotide variantNM_001018113.3(FANCB):c.2109A>G (p.Thr703=)Fanconi anemia [RCV003635919]|not specified [RCV000502323]likely benignX1484455914844559Human1name
13215180CV430669single nucleotide variantNM_001018113.3(FANCB):c.1317T>C (p.Ser439=)not specified [RCV000502170]likely benignX1485304814853048Humanname
13214446CV430672single nucleotide variantNM_001018113.3(FANCB):c.127T>A (p.Leu43Ile)FANCB-related disorder [RCV004748791]|Fanconi anemia [RCV001516277]|not provided [RCV003237883]|not specified [RCV000501276]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significanceX1486538414865384Human1name , trait , alternate_id
13498348CV471328single nucleotide variantNM_001018113.3(FANCB):c.199A>G (p.Ile67Val)Fanconi anemia [RCV000528416]|Fanconi anemia complementation group B [RCV000766077]likely benign|uncertain significanceX1486531214865312Human2name
13466195CV471761single nucleotide variantNM_001018113.3(FANCB):c.1659G>A (p.Thr553=)Fanconi anemia [RCV000550142]likely benignX1484512414845124Human1name
13613159CV534593single nucleotide variantNM_001018113.3(FANCB):c.2394C>T (p.Val798=)Fanconi anemia [RCV000631006]|not specified [RCV001821783]benign|likely benignX1484375314843753Human1name
13613311CV534611single nucleotide variantNM_001018113.3(FANCB):c.262G>A (p.Gly88Arg)Fanconi anemia [RCV000631018]|not specified [RCV001821784]benign|likely benignX1486524914865249Human1name
13613094CV534637single nucleotide variantNM_001018113.3(FANCB):c.1707A>G (p.Pro569=)Fanconi anemia [RCV000630973]likely benignX1484507614845076Human1name
14975344CV678997duplicationNM_001018113.3(FANCB):c.829dup (p.Cys277fs)Fanconi anemia complementation group B [RCV000851555]pathogenicX1486468114864682Human1name
14975341CV679000single nucleotide variantNM_001018113.3(FANCB):c.128T>C (p.Leu43Ser)Fanconi anemia complementation group B [RCV000851552]pathogenicX1486538314865383Human1name
15125083CV684958single nucleotide variantNM_001018113.3(FANCB):c.1995C>T (p.Pro665=)FANCB-related disorder [RCV003955588]|Fanconi anemia [RCV000862524]|Fanconi anemia complementation group B [RCV002501213]benign|likely benignX1484467314844673Human3name , trait , alternate_id
15153466CV689358single nucleotide variantNM_001018113.3(FANCB):c.2379A>G (p.Gly793=)Fanconi anemia [RCV000867649]likely benignX1484376814843768Human1name
15153633CV689359single nucleotide variantNM_001018113.3(FANCB):c.1899A>G (p.Leu633=)Fanconi anemia [RCV002064559]likely benignX1484488414844884Human1name
15110752CV694796single nucleotide variantNM_001018113.3(FANCB):c.2301A>C (p.Leu767=)Fanconi anemia [RCV001456347]likely benignX1484384614843846Human1name
15141473CV694797single nucleotide variantNM_001018113.3(FANCB):c.1638A>T (p.Gly546=)Fanconi anemia [RCV000877681]benignX1484514514845145Human1name
15132358CV694799single nucleotide variantNM_001018113.3(FANCB):c.1077A>T (p.Ile359=)Fanconi anemia [RCV002064839]likely benignX1485920914859209Human1name
15198384CV729442single nucleotide variantNM_001018113.3(FANCB):c.1755A>G (p.Ser585=)Fanconi anemia [RCV001402812]likely benignX1484502814845028Human1name
15109387CV758315single nucleotide variantNM_001018113.3(FANCB):c.1677G>A (p.Lys559=)not provided [RCV000916325]likely benignX1484510614845106Humanname
15129803CV773821single nucleotide variantNM_001018113.3(FANCB):c.1257T>C (p.Ile419=)Fanconi anemia [RCV001493553]likely benignX1485310814853108Human1name
28881834CV902836single nucleotide variantNM_001018113.3(FANCB):c.2373C>T (p.Ser791=)Fanconi anemia [RCV003769816]|Fanconi anemia complementation group B [RCV001167741]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167742]likely benign|uncertain significanceX1484377414843774Human3name
28875121CV902837single nucleotide variantNM_001018113.3(FANCB):c.1929G>A (p.Glu643=)Fanconi anemia complementation group B [RCV001169621]|VACTERL association, X-linked, with or without hydrocephalus [RCV001165640]uncertain significanceX1484473914844739Human2name
28882113CV902839single nucleotide variantNM_001018113.3(FANCB):c.1179T>C (p.Pro393=)Fanconi anemia [RCV001409859]|Fanconi anemia complementation group B [RCV001167814]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167813]likely benign|uncertain significanceX1485788014857880Human3name
28880304CV902842single nucleotide variantNM_001018113.3(FANCB):c.196A>C (p.Thr66Pro)Fanconi anemia [RCV001313286]|Fanconi anemia complementation group B [RCV001167290]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167291]|not provided [RCV004546609]likely benign|uncertain significanceX1486531514865315Human3name
38471419CV939460single nucleotide variantNM_001018113.3(FANCB):c.256A>G (p.Arg86Gly)Fanconi anemia [RCV001213772]likely benign|uncertain significanceX1486525514865255Human1name
38491147CV959175single nucleotide variantNM_001018113.3(FANCB):c.131A>C (p.His44Pro)Fanconi anemia [RCV001239271]uncertain significanceX1486538014865380Human1name
126747562CV999629single nucleotide variantNM_001018113.3(FANCB):c.1407A>G (p.Gln469=)Fanconi anemia [RCV001306266]likely benign|uncertain significanceX1485059414850594Human1name
126737571CV1035378single nucleotide variantNM_001018113.3(FANCB):c.679T>C (p.Tyr227His)FANCB-related disorder [RCV003405585]|Fanconi anemia [RCV001350370]uncertain significanceX1486483214864832Human1name , trait , alternate_id
126761462CV1035379single nucleotide variantNM_001018113.3(FANCB):c.677T>C (p.Ile226Thr)Fanconi anemia [RCV001340696]uncertain significanceX1486483414864834Human1name
126771958CV1035380single nucleotide variantNM_001018113.3(FANCB):c.341G>A (p.Ser114Asn)Fanconi anemia [RCV001345341]uncertain significanceX1486517014865170Human1name
126921064CV1052298single nucleotide variantNM_001018113.3(FANCB):c.361C>T (p.Arg121Cys)Fanconi anemia [RCV001374175]uncertain significanceX1486515014865150Human1name
151356401CV1329165single nucleotide variantNM_001018113.3(FANCB):c.392A>G (p.Lys131Arg)not specified [RCV001822754]uncertain significanceX1486511914865119Humanname
151891630CV1347139single nucleotide variantNM_001018113.3(FANCB):c.814A>G (p.Thr272Ala)Fanconi anemia [RCV002039186]uncertain significanceX1486469714864697Human1name
151750405CV1359075single nucleotide variantNM_001018113.3(FANCB):c.306T>A (p.Asn102Lys)Fanconi anemia [RCV001969133]|Fanconi anemia complementation group B [RCV002484852]uncertain significanceX1486520514865205Human2name
151816805CV1385539single nucleotide variantNM_001018113.3(FANCB):c.634T>C (p.Phe212Leu)Fanconi anemia [RCV002012985]uncertain significanceX1486487714864877Human1name
151738747CV1390077single nucleotide variantNM_001018113.3(FANCB):c.521G>A (p.Gly174Glu)Fanconi anemia [RCV001893056]uncertain significanceX1486499014864990Human1name
151720085CV1396525single nucleotide variantNM_001018113.3(FANCB):c.569G>A (p.Cys190Tyr)Fanconi anemia [RCV001890956]uncertain significanceX1486494214864942Human1name
151892828CV1399105single nucleotide variantNM_001018113.3(FANCB):c.454T>C (p.Phe152Leu)Fanconi anemia [RCV001944521]uncertain significanceX1486505714865057Human1name
151827537CV1400573single nucleotide variantNM_001018113.3(FANCB):c.664G>A (p.Val222Ile)Fanconi anemia [RCV001976320]uncertain significanceX1486484714864847Human1name
151772393CV1400916single nucleotide variantNM_001018113.3(FANCB):c.628A>G (p.Thr210Ala)Fanconi anemia [RCV002045372]uncertain significanceX1486488314864883Human1name
151805546CV1403526single nucleotide variantNM_001018113.3(FANCB):c.526A>T (p.Ile176Phe)Fanconi anemia [RCV002011954]uncertain significanceX1486498514864985Human1name
151751465CV1412155single nucleotide variantNM_001018113.3(FANCB):c.781C>T (p.Arg261Ter)Fanconi anemia [RCV001927558]|Fanconi anemia complementation group B [RCV004555628]pathogenic|likely pathogenicX1486473014864730Human2name
151794117CV1420531single nucleotide variantNM_001018113.3(FANCB):c.662A>G (p.Glu221Gly)Fanconi anemia [RCV002027493]uncertain significanceX1486484914864849Human1name
151768539CV1450815single nucleotide variantNM_001018113.3(FANCB):c.834G>C (p.Gln278His)Fanconi anemia [RCV001929293]uncertain significanceX1486467714864677Human1name
151769671CV1451022single nucleotide variantNM_001018113.3(FANCB):c.493G>C (p.Gly165Arg)Fanconi anemia [RCV001929393]|Fanconi anemia complementation group B [RCV004785393]likely benign|uncertain significanceX1486501814865018Human2name
151774732CV1455687single nucleotide variantNM_001018113.3(FANCB):c.972A>T (p.Lys324Asn)Fanconi anemia [RCV002045580]uncertain significanceX1485931414859314Human1name
151836555CV1469626single nucleotide variantNM_001018113.3(FANCB):c.959C>A (p.Ala320Asp)Fanconi anemia [RCV001880850]uncertain significanceX1485932714859327Human1name
151801420CV1475226single nucleotide variantNM_001018113.3(FANCB):c.484A>C (p.Ser162Arg)Fanconi anemia [RCV001952965]uncertain significanceX1486502714865027Human1name
151720425CV1496762single nucleotide variantNM_001018113.3(FANCB):c.722A>G (p.His241Arg)Fanconi anemia [RCV001909638]uncertain significanceX1486478914864789Human1name
151852825CV1501997single nucleotide variantNM_001018113.3(FANCB):c.910A>G (p.Ile304Val)Fanconi anemia [RCV001937584]|Fanconi anemia complementation group B [RCV005005316]uncertain significanceX1486460114864601Human2name
152081696CV1548313single nucleotide variantNM_001018113.3(FANCB):c.414T>A (p.Asn138Lys)FANCB-related disorder [RCV003895870]|Fanconi anemia [RCV002076453]likely benignX1486509714865097Human1name , trait , alternate_id
156261306CV1872439single nucleotide variantNM_001018113.3(FANCB):c.554G>T (p.Gly185Val)Fanconi anemia [RCV003060369]uncertain significanceX1486495714864957Human1name
155944204CV1878998single nucleotide variantNM_001018113.3(FANCB):c.445G>A (p.Ala149Thr)Fanconi anemia [RCV003073742]uncertain significanceX1486506614865066Human1name
156406623CV1891226single nucleotide variantNM_001018113.3(FANCB):c.506C>T (p.Ser169Phe)Fanconi anemia [RCV003070433]uncertain significanceX1486500514865005Human1name
156413756CV1905445single nucleotide variantNM_001018113.3(FANCB):c.439G>A (p.Val147Ile)Fanconi anemia [RCV003073431]uncertain significanceX1486507214865072Human1name
156134449CV1914502single nucleotide variantNM_001018113.3(FANCB):c.659A>G (p.Gln220Arg)Fanconi anemia [RCV002623435]uncertain significanceX1486485214864852Human1name
156392741CV1924580single nucleotide variantNM_001018113.3(FANCB):c.331A>G (p.Ile111Val)Fanconi anemia [RCV002654539]uncertain significanceX1486518014865180Human1name
156449944CV1938454single nucleotide variantNM_001018113.3(FANCB):c.647C>G (p.Ser216Cys)Fanconi anemia [RCV003122076]uncertain significanceX1486486414864864Human1name
10052109CV194336single nucleotide variantNM_001018113.3(FANCB):c.989T>C (p.Ile330Thr)FANCB-related disorder [RCV003967429]|Fanconi anemia [RCV001085637]|not provided [RCV000178139]|not specified [RCV001818433]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significanceX1485929714859297Human1name , trait , alternate_id
156324570CV2101327single nucleotide variantNM_001018113.3(FANCB):c.781C>G (p.Arg261Gly)Fanconi anemia [RCV002899538]|not provided [RCV004779373]uncertain significanceX1486473014864730Human1name
156247327CV2106344single nucleotide variantNM_001018113.3(FANCB):c.560A>G (p.Lys187Arg)Fanconi anemia [RCV002933419]likely benignX1486495114864951Human1name
155946087CV2111694single nucleotide variantNM_001018113.3(FANCB):c.977G>C (p.Ser326Thr)Fanconi anemia [RCV002904772]|not provided [RCV003435838]uncertain significanceX1485930914859309Human1name
156137268CV2113406single nucleotide variantNM_001018113.3(FANCB):c.494G>A (p.Gly165Asp)Fanconi anemia [RCV002928423]|Fanconi anemia complementation group B [RCV005045078]uncertain significanceX1486501714865017Human2name
156094453CV2139458single nucleotide variantNM_001018113.3(FANCB):c.469A>G (p.Thr157Ala)Fanconi anemia [RCV002979737]uncertain significanceX1486504214865042Human1name
156047265CV2216141single nucleotide variantNM_001018113.3(FANCB):c.537A>C (p.Leu179Phe)Inborn genetic diseases [RCV002692634]uncertain significanceX1486497414864974Human1name
11523535CV245224single nucleotide variantNM_001018113.3(FANCB):c.388A>G (p.Met130Val)Fanconi anemia [RCV000236040]|Inborn genetic diseases [RCV004619232]likely benign|uncertain significanceX1486512314865123Human2name
329952292CV2671639single nucleotide variantNM_001018113.3(FANCB):c.647C>T (p.Ser216Phe)not provided [RCV003237035]uncertain significanceX1486486414864864Humanname
401737476CV2695812single nucleotide variantNM_001018113.3(FANCB):c.473G>A (p.Gly158Asp)Inborn genetic diseases [RCV003250290]uncertain significanceX1486503814865038Human1name
401882254CV2793423single nucleotide variantNM_001018113.3(FANCB):c.912A>G (p.Ile304Met)FANCB-related disorder [RCV004750374]|Fanconi anemia [RCV005104189]|Inborn genetic diseases [RCV003385646]likely benign|uncertain significanceX1486459914864599Human2name , trait , alternate_id
401911938CV2795945single nucleotide variantNM_001018113.3(FANCB):c.304A>G (p.Asn102Asp)FANCB-related disorder [RCV003399681]|Fanconi anemia [RCV005104299]|Inborn genetic diseases [RCV004362783]uncertain significanceX1486520714865207Human2name , trait , alternate_id
401937782CV2797032single nucleotide variantNM_001018113.3(FANCB):c.419C>T (p.Pro140Leu)FANCB-related disorder [RCV003416877]|Fanconi anemia [RCV003636015]uncertain significanceX1486509214865092Human1name , trait , alternate_id
401902738CV2799453single nucleotide variantNM_001018113.3(FANCB):c.952G>A (p.Val318Ile)FANCB-related disorder [RCV003418970]uncertain significanceX1485933414859334Humanname , trait , alternate_id
401931065CV2823913single nucleotide variantNM_001018113.3(FANCB):c.850C>G (p.Pro284Ala)not provided [RCV003441031]uncertain significanceX1486466114864661Humanname
405063412CV2857556single nucleotide variantNM_001018113.3(FANCB):c.951G>T (p.Gln317His)Fanconi anemia [RCV003523292]uncertain significanceX1486456014864560Human1name
405051509CV2869417single nucleotide variantNM_001018113.3(FANCB):c.773C>T (p.Ala258Val)Fanconi anemia [RCV003522179]uncertain significanceX1486473814864738Human1name
405053139CV2884331single nucleotide variantNM_001018113.3(FANCB):c.611A>C (p.Asp204Ala)Fanconi anemia [RCV003522319]uncertain significanceX1486490014864900Human1name
405079837CV2909291single nucleotide variantNM_001018113.3(FANCB):c.970A>C (p.Lys324Gln)Fanconi anemia [RCV003524478]likely benignX1485931614859316Human1name
404987866CV2910887single nucleotide variantNM_001018113.3(FANCB):c.299A>G (p.Lys100Arg)Fanconi anemia [RCV003524731]uncertain significanceX1486521214865212Human1name
404987104CV2914234single nucleotide variantNM_001018113.3(FANCB):c.434G>C (p.Arg145Thr)Fanconi anemia [RCV003524573]uncertain significanceX1486507714865077Human1name
405146053CV2962351single nucleotide variantNM_001018113.3(FANCB):c.360G>A (p.Met120Ile)Fanconi anemia [RCV003636379]uncertain significanceX1486515114865151Human1name
405137155CV3021583single nucleotide variantNM_001018113.3(FANCB):c.610G>T (p.Asp204Tyr)Fanconi anemia [RCV003635413]uncertain significanceX1486490114864901Human1name
405139709CV3036332single nucleotide variantNM_001018113.3(FANCB):c.463T>C (p.Ser155Pro)Fanconi anemia [RCV003635711]uncertain significanceX1486504814865048Human1name
405146645CV3051654single nucleotide variantNM_001018113.3(FANCB):c.490T>C (p.Ser164Pro)Fanconi anemia [RCV003636432]uncertain significanceX1486502114865021Human1name
405149194CV3061402single nucleotide variantNM_001018113.3(FANCB):c.898G>A (p.Val300Ile)Fanconi anemia [RCV003636663]|Inborn genetic diseases [RCV004374183]benign|likely benignX1486461314864613Human2name
405149851CV3065251single nucleotide variantNM_001018113.3(FANCB):c.388A>T (p.Met130Leu)Fanconi anemia [RCV003636722]uncertain significanceX1486512314865123Human1name
405149001CV3068374single nucleotide variantNM_001018113.3(FANCB):c.461C>A (p.Ser154Tyr)Fanconi anemia [RCV003636644]uncertain significanceX1486505014865050Human1name
11620013CV338995single nucleotide variantNM_001018113.3(FANCB):c.869T>C (p.Met290Thr)FANCB-related disorder [RCV003970085]|Fanconi Anemia, X-Linked [RCV000386373]|Fanconi anemia [RCV000475401]|VACTERL with hydrocephalus [RCV000331728]benign|likely benignX1486464214864642Human2name , trait , alternate_id
11621000CV338998single nucleotide variantNM_001018113.3(FANCB):c.357A>T (p.Glu119Asp)Fanconi anemia complementation group B [RCV000343511]|VACTERL association, X-linked, with or without hydrocephalus [RCV000396765]uncertain significanceX1486515414865154Human2name
11628502CV352104single nucleotide variantNM_001018113.3(FANCB):c.350A>C (p.Lys117Thr)Fanconi Anemia, X-Linked [RCV000303794]|Fanconi anemia [RCV001206366]|VACTERL with hydrocephalus [RCV000339897]uncertain significanceX1486516114865161Human2name
11627136CV352784single nucleotide variantNM_001018113.3(FANCB):c.914C>A (p.Ser305Tyr)Fanconi anemia complementation group B [RCV000276678]|VACTERL association, X-linked, with or without hydrocephalus [RCV000389792]uncertain significanceX1486459714864597Human2name
11627467CV352785single nucleotide variantNM_001018113.3(FANCB):c.782G>A (p.Arg261Gln)Fanconi anemia complementation group B [RCV000282653]|VACTERL association, X-linked, with or without hydrocephalus [RCV000337705]uncertain significanceX1486472914864729Human2name
597628635CV3675688single nucleotide variantNM_001018113.3(FANCB):c.508A>C (p.Ile170Leu)Fanconi anemia complementation group B [RCV005051507]|Inborn genetic diseases [RCV004977622]uncertain significanceX1486500314865003Human2name
597656448CV3729620single nucleotide variantNM_001018113.3(FANCB):c.986T>A (p.Leu329Gln)Fanconi anemia complementation group B [RCV005041665]uncertain significanceX1485930014859300Human1name
597656993CV3729621single nucleotide variantNM_001018113.3(FANCB):c.974T>C (p.Leu325Pro)Fanconi anemia complementation group B [RCV005041666]uncertain significanceX1485931214859312Human1name
597656979CV3729623single nucleotide variantNM_001018113.3(FANCB):c.625A>G (p.Asn209Asp)Fanconi anemia complementation group B [RCV005041668]uncertain significanceX1486488614864886Human1name
597656970CV3729624single nucleotide variantNM_001018113.3(FANCB):c.595G>A (p.Glu199Lys)Fanconi anemia complementation group B [RCV005041669]uncertain significanceX1486491614864916Human1name
597656962CV3729625single nucleotide variantNM_001018113.3(FANCB):c.592C>G (p.Gln198Glu)Fanconi anemia complementation group B [RCV005041670]uncertain significanceX1486491914864919Human1name
597656953CV3729626single nucleotide variantNM_001018113.3(FANCB):c.552G>T (p.Leu184Phe)Fanconi anemia complementation group B [RCV005041671]uncertain significanceX1486495914864959Human1name
597656946CV3729627single nucleotide variantNM_001018113.3(FANCB):c.422T>C (p.Leu141Ser)Fanconi anemia complementation group B [RCV005041672]uncertain significanceX1486508914865089Human1name
597971473CV3750738single nucleotide variantNM_001018113.3(FANCB):c.632A>G (p.Lys211Arg)Fanconi anemia [RCV005084482]uncertain significanceX1486487914864879Human1name
597973125CV3790951single nucleotide variantNM_001018113.3(FANCB):c.815C>T (p.Thr272Ile)Fanconi anemia [RCV005143166]uncertain significanceX1486469614864696Human1name
597865505CV3792653single nucleotide variantNM_001018113.3(FANCB):c.455T>C (p.Phe152Ser)Fanconi anemia [RCV005147460]uncertain significanceX1486505614865056Human1name
597850509CV3803248single nucleotide variantNM_001018113.3(FANCB):c.581A>G (p.Glu194Gly)Fanconi anemia [RCV005145365]uncertain significanceX1486493014864930Human1name
597962095CV3809077single nucleotide variantNM_001018113.3(FANCB):c.337C>T (p.His113Tyr)Fanconi anemia [RCV005163979]uncertain significanceX1486517414865174Human1name
12884535CV404149single nucleotide variantNM_001018113.3(FANCB):c.652G>C (p.Glu218Gln)Fanconi anemia [RCV000463625]|Fanconi anemia complementation group B [RCV002480393]uncertain significanceX1486485914864859Human2name
12889124CV404501single nucleotide variantNM_001018113.3(FANCB):c.510T>G (p.Ile170Met)Fanconi anemia [RCV000472221]|Inborn genetic diseases [RCV003258818]|not specified [RCV001821264]likely benign|uncertain significanceX1486500114865001Human2name
13214404CV430671single nucleotide variantNM_001018113.3(FANCB):c.706G>A (p.Val236Met)Fanconi anemia [RCV001513609]|Fanconi anemia complementation group B [RCV002496947]|Fanconi anemia complementation group B [RCV005235364]|not specified [RCV000501227]benign|likely benignX1486480514864805Human2name
13465037CV471768single nucleotide variantNM_001018113.3(FANCB):c.884G>A (p.Gly295Glu)Fanconi anemia [RCV000545120]likely benign|uncertain significanceX1486462714864627Human1name
13465491CV471770single nucleotide variantNM_001018113.3(FANCB):c.716A>T (p.Tyr239Phe)Fanconi anemia [RCV000547293]uncertain significanceX1486479514864795Human1name
13612802CV534639single nucleotide variantNM_001018113.3(FANCB):c.587G>A (p.Cys196Tyr)Fanconi anemia [RCV000630871]uncertain significanceX1486492414864924Human1name
13799154CV553573deletionNM_001018113.3(FANCB):c.1668del (p.Asp557fs)Fanconi anemia complementation group B [RCV000851562]|not provided [RCV000681853]pathogenicX1484511514845115Human1name
13814170CV575343single nucleotide variantNM_001018113.3(FANCB):c.477A>C (p.Lys159Asn)Fanconi anemia [RCV000690711]uncertain significanceX1486503414865034Human1name
14737837CV649740single nucleotide variantNM_001018113.3(FANCB):c.923C>T (p.Ala308Val)Fanconi anemia [RCV000820668]uncertain significanceX1486458814864588Human1name
14732808CV649741single nucleotide variantNM_001018113.3(FANCB):c.898G>T (p.Val300Phe)Fanconi anemia [RCV000802021]|Fanconi anemia complementation group B [RCV002487698]uncertain significanceX1486461314864613Human2name
14716637CV649742single nucleotide variantNM_001018113.3(FANCB):c.833A>G (p.Gln278Arg)Fanconi anemia [RCV000811640]|Fanconi anemia complementation group B [RCV003145169]|not provided [RCV000999328]likely benign|uncertain significanceX1486467814864678Human2name
14975339CV678981deletionNM_001018113.1(FANCB):c.(?_-268)_(*160_?)delFanconi anemia complementation group B [RCV000851548]pathogenicHuman1name
14975347CV678994single nucleotide variantNM_001018113.3(FANCB):c.986T>C (p.Leu329Pro)Fanconi anemia complementation group B [RCV000851558]pathogenicX1485930014859300Human1name
14975345CV678996single nucleotide variantNM_001018113.3(FANCB):c.949C>T (p.Gln317Ter)Fanconi anemia complementation group B [RCV000851556]pathogenicX1486456214864562Human1name
26896817CV849700single nucleotide variantNM_001018113.3(FANCB):c.688C>T (p.Pro230Ser)Fanconi anemia [RCV001048262]|Fanconi anemia complementation group B [RCV005047243]likely benign|uncertain significanceX1486482314864823Human2name
28875258CV902840single nucleotide variantNM_001018113.3(FANCB):c.809A>G (p.Asn270Ser)Fanconi anemia complementation group B [RCV001169688]|VACTERL association, X-linked, with or without hydrocephalus [RCV001165701]uncertain significanceX1486470214864702Human2name
28875262CV902841single nucleotide variantNM_001018113.3(FANCB):c.362G>A (p.Arg121His)Fanconi anemia [RCV001511171]|Fanconi anemia complementation group B [RCV001165702]|Inborn genetic diseases [RCV002558612]|VACTERL association, X-linked, with or without hydrocephalus [RCV001165703]|not provided [RCV003438696]benign|likely benign|uncertain significanceX1486514914865149Human4name
38466856CV939459single nucleotide variantNM_001018113.3(FANCB):c.458T>A (p.Ile153Asn)Fanconi anemia [RCV001212847]|Fanconi anemia complementation group B [RCV005040024]|Inborn genetic diseases [RCV002561798]likely benign|uncertain significanceX1486505314865053Human3name
38497724CV951631single nucleotide variantNM_001018113.3(FANCB):c.508A>G (p.Ile170Val)Fanconi anemia [RCV001227268]uncertain significanceX1486500314865003Human1name
40886637CV974311single nucleotide variantNM_001018113.3(FANCB):c.653A>C (p.Glu218Ala)Fanconi anemia [RCV001880102]|Inborn genetic diseases [RCV001265822]uncertain significanceX1486485814864858Human2name
8640387CV99371insertionNM_001018113.1(FANCB):c.1105-3_1105-2insTATTAllHighlyPenetrant [RCV000079363]|not specified [RCV000079363]benignX1485795614857957Humanname
126766274CV999630single nucleotide variantNM_001018113.3(FANCB):c.800C>T (p.Ser267Leu)FANCB-related disorder [RCV003898292]|Fanconi anemia [RCV001301818]|Fanconi anemia complementation group B [RCV002486161]|Inborn genetic diseases [RCV004978271]likely benign|uncertain significanceX1486471114864711Human4name , trait , alternate_id
126760100CV999631single nucleotide variantNM_001018113.3(FANCB):c.593A>C (p.Gln198Pro)Fanconi anemia [RCV001309217]|Fanconi anemia complementation group B [RCV002493619]uncertain significanceX1486491814864918Human2name
126738393CV999632single nucleotide variantNM_001018113.3(FANCB):c.440T>C (p.Val147Ala)Fanconi anemia [RCV001304993]uncertain significanceX1486507114865071Human1name
126735795CV1014783single nucleotide variantNM_001018113.3(FANCB):c.2470T>G (p.Leu824Val)Fanconi anemia [RCV001324568]uncertain significanceX1484367714843677Human1name
126772773CV1014784single nucleotide variantNM_001018113.3(FANCB):c.2159A>G (p.Tyr720Cys)Fanconi anemia [RCV001323948]|not provided [RCV004692505]uncertain significanceX1484450914844509Human1name
126770652CV1014785single nucleotide variantNM_001018113.3(FANCB):c.1582A>G (p.Ile528Val)Fanconi anemia [RCV001322701]uncertain significanceX1484520114845201Human1name
126773240CV1014786single nucleotide variantNM_001018113.3(FANCB):c.1118A>G (p.Asp373Gly)FANCB-related disorder [RCV003416208]|Fanconi anemia [RCV001324210]|Fanconi anemia complementation group B [RCV005005173]uncertain significanceX1485794114857941Human2name , trait , alternate_id
126756709CV1035373single nucleotide variantNM_001018113.3(FANCB):c.2293A>G (p.Lys765Glu)Fanconi anemia [RCV001339357]|Fanconi anemia complementation group B [RCV005050340]uncertain significanceX1484385414843854Human2name
126748925CV1035374single nucleotide variantNM_001018113.3(FANCB):c.2144G>T (p.Gly715Val)Fanconi anemia [RCV001351956]uncertain significanceX1484452414844524Human1name
126734750CV1035375single nucleotide variantNM_001018113.3(FANCB):c.1838G>C (p.Arg613Pro)Fanconi anemia [RCV001349991]|Fanconi anemia complementation group B [RCV005005199]|not provided [RCV004692613]likely benign|uncertain significanceX1484494514844945Human2name
126749346CV1035376single nucleotide variantNM_001018113.3(FANCB):c.1226G>A (p.Arg409Gln)Fanconi anemia [RCV001352034]|Fanconi anemia complementation group B [RCV005005202]|not provided [RCV004809572]likely benign|uncertain significanceX1485313914853139Human2name
126760561CV1035377single nucleotide variantNM_001018113.3(FANCB):c.1021G>A (p.Val341Ile)Fanconi anemia [RCV001340439]uncertain significanceX1485926514859265Human1name
126923524CV1052296single nucleotide variantNM_001018113.3(FANCB):c.1703A>C (p.His568Pro)Fanconi anemia [RCV001365944]uncertain significanceX1484508014845080Human1name
126921109CV1052297single nucleotide variantNM_001018113.3(FANCB):c.1267T>C (p.Tyr423His)Fanconi anemia [RCV001363285]|not provided [RCV003438752]likely benign|uncertain significanceX1485309814853098Human1name
127297878CV1129423single nucleotide variantNM_001018113.3(FANCB):c.1912A>G (p.Lys638Glu)Fanconi anemia [RCV001460372]|not provided [RCV003238370]likely benign|uncertain significanceX1484487114844871Human1name
127332600CV1150457single nucleotide variantNM_001018113.3(FANCB):c.1894T>G (p.Tyr632Asp)Fanconi anemia [RCV001489594]likely benignX1484488914844889Human1name
150521043CV1289950single nucleotide variantNM_001018113.3(FANCB):c.1008T>A (p.Ser336Arg)not provided [RCV001730327]uncertain significanceX1485927814859278Humanname
150543001CV1302845single nucleotide variantNM_001018113.3(FANCB):c.1103C>T (p.Ser368Leu)FANCB-related disorder [RCV003892830]|Fanconi anemia [RCV002074016]|Fanconi anemia complementation group B [RCV005396998]|not provided [RCV001761472]likely benign|uncertain significanceX1485918314859183Human3name , trait , alternate_id
150553939CV1309617single nucleotide variantNM_001018113.3(FANCB):c.2365G>A (p.Glu789Lys)Inborn genetic diseases [RCV002540720]|not provided [RCV003238662]uncertain significanceX1484378214843782Human1name
150553940CV1309618single nucleotide variantNM_001018113.3(FANCB):c.2146A>T (p.Ile716Phe)Fanconi anemia [RCV001885108]|not provided [RCV003238663]uncertain significanceX1484452214844522Human1name
150548224CV1310107single nucleotide variantNM_001018113.3(FANCB):c.1225C>T (p.Arg409Trp)Fanconi anemia [RCV002077211]|not provided [RCV003238106]likely benign|uncertain significanceX1485314014853140Human1name
151354694CV1327761single nucleotide variantNM_001018113.3(FANCB):c.1729A>T (p.Ile577Leu)not specified [RCV001819236]uncertain significanceX1484505414845054Humanname
151356007CV1328771single nucleotide variantNM_001018113.3(FANCB):c.2438G>T (p.Arg813Ile)Fanconi anemia [RCV001869746]|Fanconi anemia complementation group B [RCV005040398]|not provided [RCV003883708]|not specified [RCV001822360]uncertain significanceX1484370914843709Human2name
151893341CV1338139single nucleotide variantNM_001018113.3(FANCB):c.1487C>G (p.Ser496Cys)Fanconi anemia [RCV001944938]|Fanconi anemia complementation group B [RCV002490032]uncertain significanceX1485051414850514Human2name
151757839CV1340443single nucleotide variantNM_001018113.3(FANCB):c.1763T>C (p.Leu588Ser)Fanconi anemia [RCV001913636]uncertain significanceX1484502014845020Human1name
151794376CV1348219single nucleotide variantNM_001018113.3(FANCB):c.1130A>G (p.Asp377Gly)Fanconi anemia [RCV001876805]|Fanconi anemia complementation group B [RCV002482475]uncertain significanceX1485792914857929Human2name
151731484CV1355480single nucleotide variantNM_001018113.3(FANCB):c.1120T>C (p.Cys374Arg)Fanconi anemia [RCV001984252]uncertain significanceX1485793914857939Human1name
151763115CV1356994single nucleotide variantNM_001018113.3(FANCB):c.1670A>T (p.Asp557Val)Fanconi anemia [RCV001970417]|Fanconi anemia complementation group B [RCV005042620]|Inborn genetic diseases [RCV002569276]uncertain significanceX1484511314845113Human3name
151759163CV1361687single nucleotide variantNM_001018113.3(FANCB):c.2477C>A (p.Thr826Lys)Fanconi anemia [RCV001928306]uncertain significanceX1484367014843670Human1name
151778176CV1370607single nucleotide variantNM_001018113.3(FANCB):c.1105A>G (p.Ser369Gly)Fanconi anemia [RCV001864714]uncertain significanceX1485795414857954Human1name
151825009CV1373381single nucleotide variantNM_001018113.3(FANCB):c.2331A>G (p.Ile777Met)FANCB-related disorder [RCV003892900]|Fanconi anemia [RCV001934510]uncertain significanceX1484381614843816Human1name , trait , alternate_id
151768887CV1383525single nucleotide variantNM_001018113.3(FANCB):c.2329A>G (p.Ile777Val)Fanconi anemia [RCV001874248]uncertain significanceX1484381814843818Human1name
151824983CV1392016single nucleotide variantNM_001018113.3(FANCB):c.1342C>A (p.Pro448Thr)Fanconi anemia [RCV001879571]uncertain significanceX1485065914850659Human1name
151789156CV1394178single nucleotide variantNM_001018113.3(FANCB):c.1441C>T (p.Arg481Cys)Fanconi anemia [RCV002046931]uncertain significanceX1485056014850560Human1name
151775873CV1398855single nucleotide variantNM_001018113.3(FANCB):c.2553T>A (p.Phe851Leu)Fanconi anemia [RCV001929972]uncertain significanceX1484359414843594Human1name
151790033CV1399755single nucleotide variantNM_001018113.3(FANCB):c.1317T>A (p.Ser439Arg)Fanconi anemia [RCV001916728]|Fanconi anemia complementation group B [RCV002484554]|Fanconi anemia complementation group B [RCV003146360]uncertain significanceX1485304814853048Human2name
151882253CV1402577single nucleotide variantNM_001018113.3(FANCB):c.2020G>C (p.Val674Leu)Fanconi anemia [RCV001961882]uncertain significanceX1484464814844648Human1name
151805621CV1429923single nucleotide variantNM_001018113.3(FANCB):c.1009G>A (p.Gly337Arg)Fanconi anemia [RCV001974307]uncertain significanceX1485927714859277Human1name
151816648CV1441038single nucleotide variantNM_001018113.3(FANCB):c.1159C>T (p.Arg387Cys)Fanconi anemia [RCV001933740]uncertain significanceX1485790014857900Human1name
151711148CV1443720single nucleotide variantNM_001018113.3(FANCB):c.1736C>T (p.Thr579Ile)Fanconi anemia [RCV001908033]uncertain significanceX1484504714845047Human1name
151862628CV1448914single nucleotide variantNM_001018113.3(FANCB):c.2428C>T (p.His810Tyr)Fanconi anemia [RCV001959416]uncertain significanceX1484371914843719Human1name
151843564CV1457605single nucleotide variantNM_001018113.3(FANCB):c.1501C>G (p.Leu501Val)Fanconi anemia [RCV001936412]uncertain significanceX1484528214845282Human1name
151843899CV1457691single nucleotide variantNM_001018113.3(FANCB):c.2047G>A (p.Glu683Lys)Fanconi anemia [RCV001936452]uncertain significanceX1484462114844621Human1name
151763853CV1462174single nucleotide variantNM_001018113.3(FANCB):c.1216C>T (p.Arg406Trp)FANCB-related disorder [RCV003978448]|Fanconi anemia [RCV001970490]|Fanconi anemia complementation group B [RCV002272548]likely benign|conflicting interpretations of pathogenicity|uncertain significanceX1485314914853149Human2name , trait , alternate_id
151730694CV1463959single nucleotide variantNM_001018113.3(FANCB):c.2015T>C (p.Met672Thr)Fanconi anemia [RCV001946016]uncertain significanceX1484465314844653Human1name
151873141CV1467226single nucleotide variantNM_001018113.3(FANCB):c.1160G>A (p.Arg387His)Fanconi anemia [RCV001925471]uncertain significanceX1485789914857899Human1name
151716981CV1470776single nucleotide variantNM_001018113.3(FANCB):c.2218A>G (p.Ile740Val)Fanconi anemia [RCV001909115]|Inborn genetic diseases [RCV002555334]uncertain significanceX1484392914843929Human2name
151881326CV1484186single nucleotide variantNM_001018113.3(FANCB):c.2371A>G (p.Ser791Gly)Fanconi anemia [RCV001941085]uncertain significanceX1484377614843776Human1name
151746505CV1485210single nucleotide variantNM_001018113.3(FANCB):c.1610C>T (p.Ala537Val)Fanconi anemia [RCV002006367]uncertain significanceX1484517314845173Human1name
151819688CV1488379single nucleotide variantNM_001018113.3(FANCB):c.1613C>G (p.Pro538Arg)Fanconi anemia [RCV001975607]uncertain significanceX1484517014845170Human1name
151731495CV1489832single nucleotide variantNM_001018113.3(FANCB):c.1437G>A (p.Trp479Ter)Fanconi anemia [RCV001910916]pathogenicX1485056414850564Human1name
151783268CV1491825single nucleotide variantNM_001018113.3(FANCB):c.1318G>A (p.Ala440Thr)Fanconi anemia [RCV002026467]uncertain significanceX1485304714853047Human1name
151720259CV1496673single nucleotide variantNM_001018113.3(FANCB):c.2140G>A (p.Glu714Lys)Fanconi anemia [RCV001909614]uncertain significanceX1484452814844528Human1name
151724002CV1500385single nucleotide variantNM_001018113.3(FANCB):c.2521A>G (p.Lys841Glu)Fanconi anemia [RCV001910110]|Inborn genetic diseases [RCV002425233]|not specified [RCV002266058]uncertain significanceX1484362614843626Human2name
151837172CV1501113single nucleotide variantNM_001018113.3(FANCB):c.2173A>G (p.Thr725Ala)Fanconi anemia [RCV001977267]|Inborn genetic diseases [RCV004976042]uncertain significanceX1484397414843974Human2name
151774415CV1505090single nucleotide variantNM_001018113.3(FANCB):c.1251A>C (p.Lys417Asn)Fanconi anemia [RCV001988552]uncertain significanceX1485311414853114Human1name
151885299CV1506912single nucleotide variantNM_001018113.3(FANCB):c.1615T>C (p.Tyr539His)Fanconi anemia [RCV001962514]|Fanconi anemia complementation group B [RCV002484659]uncertain significanceX1484516814845168Human2name
152100049CV1578687single nucleotide variantNM_001018113.3(FANCB):c.1924A>G (p.Ile642Val)Fanconi anemia [RCV002151701]likely benignX1484485914844859Human1name
152165004CV1625785single nucleotide variantNM_001018113.3(FANCB):c.2563A>G (p.Lys855Glu)Fanconi anemia [RCV002160362]likely benignX1484358414843584Human1name
152087244CV1625836single nucleotide variantNM_001018113.3(FANCB):c.2554G>A (p.Ala852Thr)Fanconi anemia [RCV002131582]likely benignX1484359314843593Human1name
152140838CV1628837single nucleotide variantNM_001018113.3(FANCB):c.1970A>G (p.Lys657Arg)Fanconi anemia [RCV002100752]likely benignX1484469814844698Human1name
152061659CV1666390single nucleotide variantNM_001018113.3(FANCB):c.1624C>T (p.Pro542Ser)Fanconi anemia [RCV005095736]|Fanconi anemia complementation group B [RCV002208735]uncertain significanceX1484515914845159Human2name
153002151CV1684971single nucleotide variantNM_001018113.3(FANCB):c.1496T>C (p.Leu499Pro)Fanconi anemia [RCV002258570]uncertain significanceX1485050514850505Human1name
153001829CV1684972single nucleotide variantNM_001018113.3(FANCB):c.1552T>A (p.Phe518Ile)Fanconi anemia [RCV002257247]likely benignX1484523114845231Human1name
153001281CV1684973single nucleotide variantNM_001018113.3(FANCB):c.1556G>A (p.Arg519Gln)Fanconi anemia [RCV002255929]likely benignX1484522714845227Human1name
153002482CV1684976single nucleotide variantNM_001018113.3(FANCB):c.2530G>A (p.Glu844Lys)Fanconi anemia [RCV002259228]uncertain significanceX1484361714843617Human1name
155744443CV1771341single nucleotide variantNM_001018113.3(FANCB):c.1064C>T (p.Thr355Ile)Fanconi anemia [RCV002303185]uncertain significanceX1485922214859222Human1name
156358476CV1873867single nucleotide variantNM_001018113.3(FANCB):c.1177C>T (p.Pro393Ser)Fanconi anemia [RCV003065437]|Fanconi anemia complementation group B [RCV003143463]uncertain significanceX1485788214857882Human2name
156181895CV1874271single nucleotide variantNM_001018113.3(FANCB):c.2021T>C (p.Val674Ala)Fanconi anemia [RCV003083587]uncertain significanceX1484464714844647Human1name
156394511CV1876402single nucleotide variantNM_001018113.3(FANCB):c.1727A>G (p.Gln576Arg)Fanconi anemia [RCV003068428]uncertain significanceX1484505614845056Human1name
156274187CV1880491single nucleotide variantNM_001018113.3(FANCB):c.2228T>A (p.Phe743Tyr)Fanconi anemia [RCV003060828]uncertain significanceX1484391914843919Human1name
156022722CV1882479single nucleotide variantNM_001018113.3(FANCB):c.2020G>A (p.Val674Met)Fanconi anemia [RCV003077704]uncertain significanceX1484464814844648Human1name
156343244CV1897121single nucleotide variantNM_001018113.3(FANCB):c.1726C>G (p.Gln576Glu)Fanconi anemia [RCV003090486]likely benignX1484505714845057Human1name
156006737CV1902789single nucleotide variantNM_001018113.3(FANCB):c.2515A>G (p.Thr839Ala)Fanconi anemia [RCV003099068]uncertain significanceX1484363214843632Human1name
156368156CV1904894single nucleotide variantNM_001018113.3(FANCB):c.1243A>G (p.Lys415Glu)Fanconi anemia [RCV002582221]uncertain significanceX1485312214853122Human1name
156258649CV1906387single nucleotide variantNM_001018113.3(FANCB):c.2195A>G (p.His732Arg)Fanconi anemia [RCV003086359]|Fanconi anemia complementation group B [RCV005045283]uncertain significanceX1484395214843952Human2name
156164372CV1907650single nucleotide variantNM_001018113.3(FANCB):c.1256T>C (p.Ile419Thr)Fanconi anemia [RCV003083022]uncertain significanceX1485310914853109Human1name
156436743CV1940317single nucleotide variantNM_001018113.3(FANCB):c.2507G>A (p.Arg836Lys)Fanconi anemia [RCV003106267]uncertain significanceX1484364014843640Human1name
10052468CV194866single nucleotide variantNM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu)Fanconi anemia [RCV000865306]|Fanconi anemia complementation group B [RCV001167816]|Inborn genetic diseases [RCV002453636]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167815]|not provided [RCV003436973]|not specified [RCV000178817]benign|likely benign|uncertain significanceX1485791914857919Human4name
156348462CV2005386single nucleotide variantNM_001018113.3(FANCB):c.1654G>T (p.Val552Phe)Fanconi anemia [RCV002650703]uncertain significanceX1484512914845129Human1name
156143950CV2044624single nucleotide variantNM_001018113.3(FANCB):c.1107T>G (p.Ser369Arg)Fanconi anemia [RCV002801058]uncertain significanceX1485795214857952Human1name
156255091CV2060620single nucleotide variantNM_001018113.3(FANCB):c.1694T>C (p.Val565Ala)Fanconi anemia [RCV002791825]uncertain significanceX1484508914845089Human1name
156088707CV2080164single nucleotide variantNM_001018113.3(FANCB):c.1192C>A (p.Leu398Met)Fanconi anemia [RCV002847635]uncertain significanceX1485786714857867Human1name
156165123CV2091684single nucleotide variantNM_001018113.3(FANCB):c.2275A>G (p.Met759Val)Fanconi anemia [RCV002891144]uncertain significanceX1484387214843872Human1name
156300525CV2104914single nucleotide variantNM_001018113.3(FANCB):c.2219T>C (p.Ile740Thr)Fanconi anemia [RCV002922551]uncertain significanceX1484392814843928Human1name
156310593CV2111294single nucleotide variantNM_001018113.3(FANCB):c.1765A>G (p.Thr589Ala)Fanconi anemia [RCV002937140]uncertain significanceX1484501814845018Human1name
156289579CV2115154single nucleotide variantNM_001018113.3(FANCB):c.1840T>C (p.Tyr614His)Fanconi anemia [RCV002922095]uncertain significanceX1484494314844943Human1name
156121221CV2128534single nucleotide variantNM_001018113.3(FANCB):c.2165G>T (p.Arg722Met)Fanconi anemia [RCV002953504]uncertain significanceX1484450314844503Human1name
156270139CV2136458single nucleotide variantNM_001018113.3(FANCB):c.2035C>T (p.His679Tyr)Fanconi anemia [RCV003009234]uncertain significanceX1484463314844633Human1name
155962466CV2140683single nucleotide variantNM_001018113.3(FANCB):c.1865T>C (p.Leu622Ser)Fanconi anemia [RCV003015537]uncertain significanceX1484491814844918Human1name
156076339CV2165626single nucleotide variantNM_001018113.3(FANCB):c.1010G>A (p.Gly337Glu)Fanconi anemia [RCV003037732]uncertain significanceX1485927614859276Human1name
156270820CV2237049single nucleotide variantNM_001018113.3(FANCB):c.2396C>T (p.Ala799Val)Inborn genetic diseases [RCV002792460]likely benignX1484375114843751Human1name
156023767CV2245511single nucleotide variantNM_001018113.3(FANCB):c.1219G>A (p.Glu407Lys)Inborn genetic diseases [RCV002757533]uncertain significanceX1485314614853146Human1name
243058924CV2409998single nucleotide variantNM_001018113.3(FANCB):c.2053A>G (p.Ile685Val)Fanconi anemia [RCV003636001]|Fanconi anemia complementation group B [RCV003147172]likely benign|uncertain significanceX1484461514844615Human2name
243058925CV2409999single nucleotide variantNM_001018113.3(FANCB):c.2373C>G (p.Ser791Arg)Fanconi anemia complementation group B [RCV003147173]uncertain significanceX1484377414843774Human1name
11524027CV245217single nucleotide variantNM_001018113.3(FANCB):c.1342C>T (p.Pro448Ser)Fanconi anemia [RCV000236979]uncertain significanceX1485065914850659Human1name
11523438CV245218single nucleotide variantNM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser)FANCB-related disorder [RCV003907910]|Fanconi anemia [RCV001080424]|Fanconi anemia complementation group A [RCV000990470]|Fanconi anemia complementation group B [RCV000292661]|History of neurodevelopmental disorder [RCV000720996]|Malignant tumor of breast [RCV00benign|likely benign|uncertain significanceX1484501414845014Human6name , trait , alternate_id
11523761CV245219single nucleotide variantNM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser)FANCB-related disorder [RCV003930015]|Fanconi anemia [RCV000236495]|Fanconi anemia complementation group B [RCV003316313]|History of neurodevelopmental disorder [RCV000721015]|not provided [RCV001727653]|not specified [RCV000503767]benign|likely benign|uncertain significanceX1484467214844672Human2name , trait , alternate_id
11524079CV245220single nucleotide variantNM_001018113.3(FANCB):c.2090C>T (p.Pro697Leu)FANCB-related disorder [RCV003947807]|Fanconi anemia [RCV000237072]|not provided [RCV003884430]|not specified [RCV001820789]benign|likely benign|uncertain significanceX1484457814844578Human1name , trait , alternate_id
11523782CV245222single nucleotide variantNM_001018113.3(FANCB):c.2452A>G (p.Arg818Gly)FANCB-related disorder [RCV003947808]|Fanconi anemia [RCV000236537]|Fanconi anemia complementation group B [RCV000390121]|VACTERL association, X-linked, with or without hydrocephalus [RCV000301708]|not provided [RCV003437033]|not specified [RCV000502067]benign|likely benignX1484369514843695Human3name , trait , alternate_id
329361245CV2459528single nucleotide variantNM_001018113.3(FANCB):c.1091A>G (p.Lys364Arg)Inborn genetic diseases [RCV003205445]uncertain significanceX1485919514859195Human1name
11543021CV257770single nucleotide variantNM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu)Fanconi anemia [RCV000461854]|Fanconi anemia complementation group B [RCV000365780]|Inborn genetic diseases [RCV002317780]|VACTERL association, X-linked, with or without hydrocephalus [RCV000301775]|not provided [RCV001711800]|not specified [RCV000241904]benign|likely benignX1485928214859282Human4name
11639483CV265612single nucleotide variantNM_001018113.3(FANCB):c.1658C>T (p.Thr553Met)FANCB-related disorder [RCV003947831]|Fanconi anemia [RCV001087773]|Inborn genetic diseases [RCV002518813]|not provided [RCV000514485]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significanceX1484512514845125Human2name , trait , alternate_id
401921814CV2800045single nucleotide variantNM_001018113.3(FANCB):c.1837C>G (p.Arg613Gly)FANCB-related disorder [RCV003403105]|Fanconi anemia [RCV005099995]uncertain significanceX1484494614844946Human1name , trait , alternate_id
401905028CV2823911single nucleotide variantNM_001410764.1(FANCB):c.2654G>A (p.Trp885Ter)not provided [RCV003441029]uncertain significanceX1479687214796872Humanname
405073750CV2866189single nucleotide variantNM_001018113.3(FANCB):c.1826G>A (p.Cys609Tyr)Fanconi anemia [RCV003524011]uncertain significanceX1484495714844957Human1name
405074444CV2866628single nucleotide variantNM_001018113.3(FANCB):c.2330T>C (p.Ile777Thr)Fanconi anemia [RCV003524060]uncertain significanceX1484381714843817Human1name
404990210CV2882771single nucleotide variantNM_001018113.3(FANCB):c.1579G>A (p.Val527Met)Fanconi anemia [RCV003524976]uncertain significanceX1484520414845204Human1name
404992240CV2894233single nucleotide variantNM_001018113.3(FANCB):c.2139C>A (p.Phe713Leu)Fanconi anemia [RCV003525198]uncertain significanceX1484452914844529Human1name
405069994CV2911734single nucleotide variantNM_001018113.3(FANCB):c.2291A>C (p.Glu764Ala)Fanconi anemia [RCV003523751]uncertain significanceX1484385614843856Human1name
405151872CV2952453single nucleotide variantNM_001018113.3(FANCB):c.1586A>C (p.Lys529Thr)Fanconi anemia [RCV003636891]uncertain significanceX1484519714845197Human1name
405153877CV2965109single nucleotide variantNM_001018113.3(FANCB):c.2223C>G (p.Asn741Lys)Fanconi anemia [RCV003637045]uncertain significanceX1484392414843924Human1name
405153293CV2968116single nucleotide variantNM_001018113.3(FANCB):c.2353A>G (p.Met785Val)Fanconi anemia [RCV003637000]uncertain significanceX1484379414843794Human1name
405153815CV2968738single nucleotide variantNM_001018113.3(FANCB):c.1406A>T (p.Gln469Leu)Fanconi anemia [RCV003637041]uncertain significanceX1485059514850595Human1name
405152377CV2970267single nucleotide variantNM_001018113.3(FANCB):c.1819G>A (p.Gly607Ser)Fanconi anemia [RCV003636928]uncertain significanceX1484496414844964Human1name
405154050CV2972419single nucleotide variantNM_001018113.3(FANCB):c.1787C>A (p.Thr596Asn)Fanconi anemia [RCV003637058]uncertain significanceX1484499614844996Human1name
405157748CV2983847single nucleotide variantNM_001018113.3(FANCB):c.1578G>T (p.Arg526Ser)Fanconi anemia [RCV003637359]likely benignX1484520514845205Human1name
405161999CV2999121single nucleotide variantNM_001018113.3(FANCB):c.1708T>C (p.Ser570Pro)Fanconi anemia [RCV003637700]uncertain significanceX1484507514845075Human1name
405163706CV3008034single nucleotide variantNM_001018113.3(FANCB):c.2093G>C (p.Gly698Ala)Fanconi anemia [RCV003637858]uncertain significanceX1484457514844575Human1name
405164874CV3009040single nucleotide variantNM_001018113.3(FANCB):c.1757C>T (p.Pro586Leu)Fanconi anemia [RCV003637957]uncertain significanceX1484502614845026Human1name
405140236CV3037241single nucleotide variantNM_001018113.3(FANCB):c.2000A>C (p.Tyr667Ser)Fanconi anemia [RCV003635763]uncertain significanceX1484466814844668Human1name
405146366CV3044627single nucleotide variantNM_001018113.3(FANCB):c.2467A>G (p.Met823Val)Fanconi anemia [RCV003636408]uncertain significanceX1484368014843680Human1name
405149270CV3058341single nucleotide variantNM_001018113.3(FANCB):c.2055C>G (p.Ile685Met)Fanconi anemia [RCV003636671]uncertain significanceX1484461314844613Human1name
405148203CV3067165single nucleotide variantNM_001018113.3(FANCB):c.1940A>T (p.Asp647Val)Fanconi anemia [RCV003636575]uncertain significanceX1484472814844728Human1name
405151209CV3073150single nucleotide variantNM_001018113.3(FANCB):c.1373A>G (p.His458Arg)Fanconi anemia [RCV003636838]benignX1485062814850628Human1name
405151563CV3075593single nucleotide variantNM_001018113.3(FANCB):c.2395G>A (p.Ala799Thr)Fanconi anemia [RCV003636867]likely benignX1484375214843752Human1name
405151456CV3078872single nucleotide variantNM_001018113.3(FANCB):c.1393T>A (p.Ser465Thr)Fanconi anemia [RCV003636859]uncertain significanceX1485060814850608Human1name
405158865CV3079389single nucleotide variantNM_001018113.3(FANCB):c.2276T>C (p.Met759Thr)Fanconi anemia [RCV003637448]likely benignX1484387114843871Human1name
405027467CV3129760single nucleotide variantNM_001018113.3(FANCB):c.1304A>G (p.Asp435Gly)Fanconi anemia [RCV003830358]|Fanconi anemia complementation group B [RCV005040543]uncertain significanceX1485306114853061Human2name
405129088CV3133247single nucleotide variantNM_001018113.3(FANCB):c.1003G>A (p.Gly335Arg)Fanconi anemia [RCV003838217]uncertain significanceX1485928314859283Human1name
405106790CV3136179single nucleotide variantNM_001018113.3(FANCB):c.1759C>G (p.Leu587Val)Fanconi anemia [RCV003835525]|Inborn genetic diseases [RCV004366844]likely benign|uncertain significanceX1484502414845024Human2name
405081211CV3137151single nucleotide variantNM_001018113.3(FANCB):c.1549A>G (p.Arg517Gly)Fanconi anemia [RCV003834050]|Inborn genetic diseases [RCV005335939]likely benignX1484523414845234Human2name
405150142CV3152075single nucleotide variantNM_001018113.3(FANCB):c.2222A>T (p.Asn741Ile)Fanconi anemia [RCV003856046]likely benignX1484392514843925Human1name
405206501CV3161991single nucleotide variantNM_001018113.3(FANCB):c.1930C>T (p.His644Tyr)Fanconi anemia [RCV003861485]uncertain significanceX1484473814844738Human1name
405085132CV3167209single nucleotide variantNM_001018113.3(FANCB):c.1215T>A (p.Phe405Leu)Fanconi anemia [RCV003851790]likely benignX1485315014853150Human1name
402479824CV3170613single nucleotide variantNM_001018113.3(FANCB):c.1369G>A (p.Val457Ile)Fanconi anemia [RCV003875815]uncertain significanceX1485063214850632Human1name
402470510CV3175195single nucleotide variantNM_001018113.3(FANCB):c.2206A>G (p.Arg736Gly)Fanconi anemia [RCV003874127]uncertain significanceX1484394114843941Human1name
404994594CV3176491single nucleotide variantNM_001018113.3(FANCB):c.1514C>G (p.Thr505Ser)Fanconi anemia [RCV003881923]uncertain significanceX1484526914845269Human1name
402492594CV3182609single nucleotide variantNM_001018113.3(FANCB):c.2485A>G (p.Lys829Glu)Fanconi anemia [RCV003877096]uncertain significanceX1484366214843662Human1name
405762250CV3252988single nucleotide variantNM_001018113.3(FANCB):c.2221A>C (p.Asn741His)Inborn genetic diseases [RCV004383704]uncertain significanceX1484392614843926Human1name
11613270CV338984single nucleotide variantNM_001018113.3(FANCB):c.2411A>G (p.Asp804Gly)FANCB-related disorder [RCV003897823]|Fanconi anemia [RCV001516420]|Fanconi anemia complementation group B [RCV000266661]|VACTERL association, X-linked, with or without hydrocephalus [RCV000358820]benign|likely benignX1484373614843736Human3name , trait , alternate_id
11612568CV338985single nucleotide variantNM_001018113.3(FANCB):c.1817G>A (p.Ser606Asn)Fanconi anemia [RCV001404085]|Fanconi anemia complementation group B [RCV000318403]|VACTERL association, X-linked, with or without hydrocephalus [RCV000260730]|not provided [RCV002512100]likely benign|uncertain significanceX1484496614844966Human3name
11619940CV338987single nucleotide variantNM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn)Fanconi anemia [RCV000524700]|Fanconi anemia complementation group B [RCV000331306]|Fanconi anemia complementation group B [RCV002488832]|Inborn genetic diseases [RCV002392931]|VACTERL association, X-linked, with or without hydrocephalus [RCV000388194]|not provided [RCV004713874]|not specified [RCV0benign|likely benign|uncertain significanceX1485050714850507Human4name
405868585CV3400533single nucleotide variantNM_001018113.3(FANCB):c.1570C>T (p.Gln524Ter)Fanconi anemia complementation group B [RCV004576536]likely pathogenicX1484521314845213Human1name
11626508CV348561single nucleotide variantNM_001018113.3(FANCB):c.1078A>G (p.Thr360Ala)Fanconi anemia complementation group B [RCV000265400]|VACTERL association, X-linked, with or without hydrocephalus [RCV000360054]uncertain significanceX1485920814859208Human2name
11628304CV352099single nucleotide variantNM_001018113.3(FANCB):c.1310C>T (p.Thr437Met)Fanconi anemia [RCV001516965]|Fanconi anemia complementation group B [RCV000335633]|Inborn genetic diseases [RCV004975493]|VACTERL association, X-linked, with or without hydrocephalus [RCV000299580]benign|likely benignX1485305514853055Human4name
408391208CV3523108single nucleotide variantNM_001018113.3(FANCB):c.1103C>G (p.Ser368Trp)not provided [RCV004770480]uncertain significanceX1485918314859183Humanname
11629472CV352782single nucleotide variantNM_001018113.3(FANCB):c.2311A>G (p.Ser771Gly)FANCB-related disorder [RCV003972550]|Fanconi anemia [RCV000630971]|Fanconi anemia complementation group B [RCV000324199]|Inborn genetic diseases [RCV002523824]|VACTERL association, X-linked, with or without hydrocephalus [RCV000353202]benign|likely benignX1484383614843836Human4name , trait , alternate_id
11628631CV352783single nucleotide variantNM_001018113.3(FANCB):c.1265C>T (p.Ser422Phe)Fanconi anemia complementation group B [RCV000305337]|VACTERL association, X-linked, with or without hydrocephalus [RCV000400535]uncertain significanceX1485310014853100Human2name
597628641CV3675689single nucleotide variantNM_001018113.3(FANCB):c.2248G>A (p.Gly750Arg)Fanconi anemia complementation group B [RCV005051508]|Inborn genetic diseases [RCV004977623]uncertain significanceX1484389914843899Human2name
597656292CV3729599single nucleotide variantNM_001018113.3(FANCB):c.2454A>T (p.Arg818Ser)Fanconi anemia complementation group B [RCV005041647]uncertain significanceX1484369314843693Human1name
597656302CV3729600single nucleotide variantNM_001018113.3(FANCB):c.2354T>C (p.Met785Thr)Fanconi anemia complementation group B [RCV005041648]uncertain significanceX1484379314843793Human1name
597656310CV3729601single nucleotide variantNM_001018113.3(FANCB):c.2339A>G (p.His780Arg)Fanconi anemia complementation group B [RCV005041649]uncertain significanceX1484380814843808Human1name
597656329CV3729602single nucleotide variantNM_001018113.3(FANCB):c.2329A>C (p.Ile777Leu)Fanconi anemia complementation group B [RCV005041651]uncertain significanceX1484381814843818Human1name
597656338CV3729604single nucleotide variantNM_001018113.3(FANCB):c.2281T>G (p.Phe761Val)Fanconi anemia complementation group B [RCV005041652]uncertain significanceX1484386614843866Human1name
597656347CV3729605single nucleotide variantNM_001018113.3(FANCB):c.2273A>G (p.Asn758Ser)Fanconi anemia complementation group B [RCV005041653]uncertain significanceX1484387414843874Human1name
597717194CV3729606single nucleotide variantNM_001018113.3(FANCB):c.2267T>A (p.Ile756Asn)Fanconi anemia complementation group B [RCV005049297]uncertain significanceX1484388014843880Human1name
597656354CV3729607single nucleotide variantNM_001018113.3(FANCB):c.2245T>A (p.Ser749Thr)Fanconi anemia complementation group B [RCV005041654]uncertain significanceX1484390214843902Human1name
597656363CV3729608single nucleotide variantNM_001018113.3(FANCB):c.2176G>A (p.Val726Ile)Fanconi anemia [RCV005105346]|Fanconi anemia complementation group B [RCV005041655]uncertain significanceX1484397114843971Human2name
597717205CV3729609single nucleotide variantNM_001018113.3(FANCB):c.2174C>A (p.Thr725Lys)Fanconi anemia complementation group B [RCV005049298]uncertain significanceX1484397314843973Human1name
597717218CV3729610single nucleotide variantNM_001018113.3(FANCB):c.2050A>G (p.Ile684Val)Fanconi anemia complementation group B [RCV005049299]uncertain significanceX1484461814844618Human1name
597656379CV3729612single nucleotide variantNM_001018113.3(FANCB):c.1867A>C (p.Ser623Arg)Fanconi anemia complementation group B [RCV005041657]uncertain significanceX1484491614844916Human1name
597656387CV3729613single nucleotide variantNM_001018113.3(FANCB):c.1724T>A (p.Val575Glu)Fanconi anemia complementation group B [RCV005041658]uncertain significanceX1484505914845059Human1name
597656395CV3729614single nucleotide variantNM_001018113.3(FANCB):c.1640T>C (p.Leu547Ser)Fanconi anemia complementation group B [RCV005041659]uncertain significanceX1484514314845143Human1name
597717230CV3729615single nucleotide variantNM_001018113.3(FANCB):c.1623G>A (p.Met541Ile)Fanconi anemia complementation group B [RCV005049300]uncertain significanceX1484516014845160Human1name
597656405CV3729616single nucleotide variantNM_001018113.3(FANCB):c.1597A>G (p.Asn533Asp)Fanconi anemia complementation group B [RCV005041660]uncertain significanceX1484518614845186Human1name
597656424CV3729617single nucleotide variantNM_001018113.3(FANCB):c.1292A>G (p.Gln431Arg)Fanconi anemia complementation group B [RCV005041662]uncertain significanceX1485307314853073Human1name
597656431CV3729618single nucleotide variantNM_001018113.3(FANCB):c.1217G>A (p.Arg406Gln)Fanconi anemia complementation group B [RCV005041663]uncertain significanceX1485314814853148Human1name
597656441CV3729619single nucleotide variantNM_001018113.3(FANCB):c.1150C>G (p.Gln384Glu)Fanconi anemia complementation group B [RCV005041664]uncertain significanceX1485790914857909Human1name
597906674CV3738815single nucleotide variantNM_001018113.3(FANCB):c.1654G>A (p.Val552Ile)Fanconi anemia [RCV005073050]uncertain significanceX1484512914845129Human1name
597864527CV3742199single nucleotide variantNM_001018113.3(FANCB):c.2216C>G (p.Pro739Arg)Fanconi anemia [RCV005067815]uncertain significanceX1484393114843931Human1name
597971548CV3750762single nucleotide variantNM_001018113.3(FANCB):c.1345C>G (p.Leu449Val)Fanconi anemia [RCV005084506]uncertain significanceX1485065614850656Human1name
597840598CV3756109single nucleotide variantNM_001018113.3(FANCB):c.2360G>C (p.Arg787Thr)Fanconi anemia [RCV005086381]uncertain significanceX1484378714843787Human1name
597943563CV3758028single nucleotide variantNM_001018113.3(FANCB):c.1354G>A (p.Glu452Lys)Fanconi anemia [RCV005078027]uncertain significanceX1485064714850647Human1name
597936208CV3777621single nucleotide variantNM_001018113.3(FANCB):c.2523A>C (p.Lys841Asn)Fanconi anemia [RCV005132534]uncertain significanceX1484362414843624Human1name
597964950CV3797014single nucleotide variantNM_001018113.3(FANCB):c.1524G>T (p.Leu508Phe)Fanconi anemia [RCV005139974]uncertain significanceX1484525914845259Human1name
597975358CV3799090single nucleotide variantNM_001018113.3(FANCB):c.1060C>G (p.Leu354Val)Fanconi anemia [RCV005144486]uncertain significanceX1485922614859226Human1name
597883639CV3799433single nucleotide variantNM_001018113.3(FANCB):c.1168G>T (p.Val390Leu)Fanconi anemia [RCV005150100]uncertain significanceX1485789114857891Human1name
597883710CV3799507single nucleotide variantNM_001018113.3(FANCB):c.1556G>T (p.Arg519Leu)Fanconi anemia [RCV005150174]uncertain significanceX1484522714845227Human1name
597869318CV3803465single nucleotide variantNM_001018113.3(FANCB):c.1379T>C (p.Leu460Ser)Fanconi anemia [RCV005148062]uncertain significanceX1485062214850622Human1name
597864646CV3814253single nucleotide variantNM_001018113.3(FANCB):c.1595C>T (p.Thr532Ile)Fanconi anemia [RCV005147322]uncertain significanceX1484518814845188Human1name
597877127CV3825736single nucleotide variantNM_001018113.3(FANCB):c.1754C>T (p.Ser585Leu)Fanconi anemia [RCV005177610]uncertain significanceX1484502914845029Human1name
597964105CV3830387single nucleotide variantNM_001018113.3(FANCB):c.1288G>T (p.Val430Phe)Fanconi anemia [RCV005164527]uncertain significanceX1485307714853077Human1name
597832095CV3830906single nucleotide variantNM_001018113.3(FANCB):c.1774A>G (p.Lys592Glu)Fanconi anemia [RCV005170304]uncertain significanceX1484500914845009Human1name
597974485CV3831674single nucleotide variantNM_001018113.3(FANCB):c.1243A>C (p.Lys415Gln)Fanconi anemia [RCV005168613]uncertain significanceX1485312214853122Human1name
597940412CV3836680single nucleotide variantNM_001018113.3(FANCB):c.1159C>A (p.Arg387Ser)Fanconi anemia [RCV005187700]uncertain significanceX1485790014857900Human1name
597955407CV3841231single nucleotide variantNM_001018113.3(FANCB):c.2314T>G (p.Ser772Ala)Fanconi anemia [RCV005191350]uncertain significanceX1484383314843833Human1name
597963270CV3841473single nucleotide variantNM_001018113.3(FANCB):c.2014A>G (p.Met672Val)Fanconi anemia [RCV005193577]uncertain significanceX1484465414844654Human1name
597904157CV3846111single nucleotide variantNM_001018113.3(FANCB):c.2481C>A (p.Asn827Lys)Fanconi anemia [RCV005181733]uncertain significanceX1484366614843666Human1name
597873430CV3849867single nucleotide variantNM_001018113.3(FANCB):c.1781G>C (p.Cys594Ser)Fanconi anemia [RCV005197856]uncertain significanceX1484500214845002Human1name
597967269CV3855769single nucleotide variantNM_001018113.3(FANCB):c.1663A>G (p.Thr555Ala)Fanconi anemia [RCV005194749]uncertain significanceX1484512014845120Human1name
597873011CV3859188single nucleotide variantNM_001018113.3(FANCB):c.1100A>G (p.Tyr367Cys)Fanconi anemia [RCV005197777]uncertain significanceX1485918614859186Human1name
598127346CV3888141single nucleotide variantNM_001018113.3(FANCB):c.2239C>A (p.Leu747Ile)not provided [RCV005242827]likely benignX1484390814843908Humanname
598197988CV3955031single nucleotide variantNM_001018113.3(FANCB):c.2020G>T (p.Val674Leu)Inborn genetic diseases [RCV005336224]uncertain significanceX1484464814844648Human1name
598197991CV3955032single nucleotide variantNM_001018113.3(FANCB):c.1882T>C (p.Ser628Pro)Inborn genetic diseases [RCV005336225]uncertain significanceX1484490114844901Human1name
12887352CV404139single nucleotide variantNM_001018113.3(FANCB):c.2477C>T (p.Thr826Met)FANCB-related disorder [RCV003960074]|Fanconi anemia [RCV000468906]|Fanconi anemia complementation group B [RCV001167168]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167740]|not provided [RCV003437214]benign|likely benignX1484367014843670Human3name , trait , alternate_id
12891207CV404144single nucleotide variantNM_001018113.3(FANCB):c.2125C>G (p.Gln709Glu)Fanconi anemia [RCV000476157]uncertain significanceX1484454314844543Human1name
12884036CV404461single nucleotide variantNM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser)FANCB-related disorder [RCV003942481]|Fanconi anemia [RCV001487463]|Fanconi anemia complementation group B [RCV000766076]|Inborn genetic diseases [RCV004022680]|not specified [RCV001821263]likely benign|uncertain significanceX1484506314845063Human4name , trait , alternate_id
12906074CV413813single nucleotide variantNM_001018113.3(FANCB):c.2392G>A (p.Val798Ile)Fanconi anemia [RCV005090984]|not provided [RCV000488385]uncertain significanceX1484375514843755Human1name
13216741CV430667single nucleotide variantNM_001018113.3(FANCB):c.2228T>G (p.Phe743Cys)Fanconi anemia [RCV001857097]|Inborn genetic diseases [RCV005338205]|not provided [RCV004808737]|not specified [RCV000504138]likely benign|uncertain significanceX1484391914843919Human2name
8569902CV45729single nucleotide variantNM_001018113.3(FANCB):c.2150T>G (p.Leu717Ter)Fanconi anemia complementation group B [RCV000030703]pathogenicX1484451814844518Human1name
13498409CV470515single nucleotide variantNM_001018113.3(FANCB):c.2327C>T (p.Ala776Val)Fanconi anemia [RCV001444357]|Fanconi anemia complementation group B [RCV001169618]|VACTERL association, X-linked, with or without hydrocephalus [RCV001169617]|not provided [RCV000528766]likely benign|uncertain significanceX1484382014843820Human3name
13501119CV470518single nucleotide variantNM_001018113.3(FANCB):c.1541A>G (p.His514Arg)Fanconi anemia [RCV000539693]uncertain significanceX1484524214845242Human1name
13465748CV470523single nucleotide variantNM_001018113.3(FANCB):c.1079C>T (p.Thr360Met)Fanconi anemia [RCV000548316]likely benign|conflicting interpretations of pathogenicity|uncertain significanceX1485920714859207Human1name
13501195CV471760single nucleotide variantNM_001018113.3(FANCB):c.2098T>C (p.Phe700Leu)Fanconi anemia [RCV000540004]|not provided [RCV001357784]uncertain significanceX1484457014844570Human1name
13503566CV471767single nucleotide variantNM_001018113.3(FANCB):c.1487C>T (p.Ser496Phe)Fanconi anemia [RCV000550939]uncertain significanceX1485051414850514Human1name
13500173CV472071single nucleotide variantNM_001018113.3(FANCB):c.1349G>A (p.Cys450Tyr)Fanconi anemia [RCV000535909]likely benignX1485065214850652Human1name
13532027CV508345single nucleotide variantNM_001018113.3(FANCB):c.2435A>G (p.Tyr812Cys)Fanconi anemia [RCV001523706]|not specified [RCV000606668]benign|likely benignX1484371214843712Human1name
13612790CV534559single nucleotide variantNM_001018113.3(FANCB):c.1991C>T (p.Ser664Leu)Fanconi anemia [RCV000630867]|Fanconi anemia complementation group B [RCV005044921]uncertain significanceX1484467714844677Human2name
13613117CV534562single nucleotide variantNM_001018113.3(FANCB):c.1393T>C (p.Ser465Pro)Fanconi anemia [RCV002060714]|Fanconi anemia complementation group B [RCV002492951]|Inborn genetic diseases [RCV002528849]benign|likely benignX1485060814850608Human3name
13612940CV534595single nucleotide variantNM_001018113.3(FANCB):c.1605C>G (p.Phe535Leu)Fanconi anemia [RCV000630916]uncertain significanceX1484517814845178Human1name
13613197CV534596single nucleotide variantNM_001018113.3(FANCB):c.1442G>A (p.Arg481His)Fanconi anemia [RCV000631032]|Fanconi anemia complementation group B [RCV001167228]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167229]benignX1485055914850559Human3name
13613050CV535058single nucleotide variantNM_001018113.3(FANCB):c.2420A>C (p.Glu807Ala)Fanconi anemia [RCV000630950]|Inborn genetic diseases [RCV004025394]uncertain significanceX1484372714843727Human2name
13821953CV573612single nucleotide variantNM_001018113.3(FANCB):c.1655T>C (p.Val552Ala)Fanconi anemia [RCV000696608]uncertain significanceX1484512814845128Human1name
13816621CV574325single nucleotide variantNM_001018113.3(FANCB):c.2117C>T (p.Thr706Ile)Fanconi anemia [RCV000706514]uncertain significanceX1484455114844551Human1name
13806531CV574327single nucleotide variantNM_001018113.3(FANCB):c.1133A>C (p.Asp378Ala)Fanconi anemia [RCV000686293]uncertain significanceX1485792614857926Human1name
13819114CV575340single nucleotide variantNM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly)Fanconi anemia [RCV000694135]|Fanconi anemia complementation group B [RCV001167743]|VACTERL association, X-linked, with or without hydrocephalus [RCV001169616]|not provided [RCV001756194]|not specified [RCV001816713]benign|likely benign|uncertain significanceX1484380514843805Human3name
13822502CV575341single nucleotide variantNM_001018113.3(FANCB):c.1331A>T (p.Glu444Val)Fanconi anemia [RCV000697385]benign|uncertain significanceX1485067014850670Human1name
14721722CV649736single nucleotide variantNM_001018113.3(FANCB):c.2267T>C (p.Ile756Thr)Fanconi anemia [RCV000813601]uncertain significanceX1484388014843880Human1name
14703820CV649737single nucleotide variantNM_001018113.3(FANCB):c.2168A>G (p.Asn723Ser)Fanconi anemia [RCV000807546]uncertain significanceX1484397914843979Human1name
14743476CV649738single nucleotide variantNM_001018113.3(FANCB):c.1372C>T (p.His458Tyr)Fanconi anemia [RCV000823469]uncertain significanceX1485062914850629Human1name
14741141CV649739single nucleotide variantNM_001018113.3(FANCB):c.1288G>A (p.Val430Ile)Fanconi anemia [RCV000805657]uncertain significanceX1485307714853077Human1name
21404462CV677966single nucleotide variantNM_001018113.3(FANCB):c.1480A>G (p.Thr494Ala)Fanconi anemia [RCV003635929]|Malignant tumor of breast [RCV001004842]uncertain significanceX1485052114850521Human3name
14975358CV678984single nucleotide variantNM_001018113.3(FANCB):c.2249G>T (p.Gly750Val)not provided [RCV000851571]uncertain significanceX1484389814843898Humanname
14975353CV678989single nucleotide variantNM_001018113.3(FANCB):c.2059G>T (p.Glu687Ter)Fanconi anemia complementation group B [RCV000851566]uncertain significanceX1484460914844609Human1name
14975352CV678990single nucleotide variantNM_001018113.3(FANCB):c.2027T>C (p.Leu676Pro)Fanconi anemia complementation group B [RCV000851565]uncertain significanceX1484464114844641Human1name
14975348CV678993single nucleotide variantNM_001018113.3(FANCB):c.1103C>A (p.Ser368Ter)Fanconi anemia complementation group B [RCV000851559]pathogenicX1485918314859183Human1name
15115313CV684959single nucleotide variantNM_001018113.3(FANCB):c.1987A>G (p.Thr663Ala)Fanconi anemia [RCV000860710]|Fanconi anemia complementation group B [RCV001169620]|VACTERL association, X-linked, with or without hydrocephalus [RCV001169619]benignX1484468114844681Human3name
15159789CV689360single nucleotide variantNM_001018113.3(FANCB):c.1838G>A (p.Arg613His)Fanconi anemia [RCV000868889]likely benignX1484494514844945Human1name
15139345CV689361single nucleotide variantNM_001018113.3(FANCB):c.1570C>G (p.Gln524Glu)Fanconi anemia [RCV000864986]|Inborn genetic diseases [RCV004973052]|not specified [RCV001816965]likely benign|uncertain significanceX1484521314845213Human2name
15159401CV689362single nucleotide variantNM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu)FANCB-related disorder [RCV003965726]|Fanconi anemia [RCV000868818]|Fanconi anemia complementation group B [RCV002495286]|Inborn genetic diseases [RCV002409068]benign|likely benign|uncertain significanceX1485921914859219Human4name , trait , alternate_id
15145606CV694798single nucleotide variantNM_001018113.3(FANCB):c.1634T>C (p.Ile545Thr)Fanconi anemia [RCV005092610]|Inborn genetic diseases [RCV004027906]likely benignX1484514914845149Human2name
15146209CV786718single nucleotide variantNM_001018113.3(FANCB):c.1042T>C (p.Ser348Pro)Fanconi anemia [RCV001471456]likely benignX1485924414859244Human1name
26915636CV849696single nucleotide variantNM_001018113.3(FANCB):c.2107A>T (p.Thr703Ser)Fanconi anemia [RCV001041473]uncertain significanceX1484456114844561Human1name
26917068CV849697single nucleotide variantNM_001018113.3(FANCB):c.1785C>G (p.Cys595Trp)Fanconi anemia [RCV001042410]uncertain significanceX1484499814844998Human1name
26913895CV849698single nucleotide variantNM_001018113.3(FANCB):c.1702C>T (p.His568Tyr)Fanconi anemia [RCV001054561]|Fanconi anemia complementation group B [RCV005047256]uncertain significanceX1484508114845081Human2name
26919206CV849699single nucleotide variantNM_001018113.3(FANCB):c.1664C>T (p.Thr555Ile)Fanconi anemia [RCV001058720]uncertain significanceX1484511914845119Human1name
28875124CV902838single nucleotide variantNM_001018113.3(FANCB):c.1652G>A (p.Arg551Lys)Fanconi anemia complementation group B [RCV001165642]|VACTERL association, X-linked, with or without hydrocephalus [RCV001165641]uncertain significanceX1484513114845131Human2name
38485590CV929582single nucleotide variantNM_001018113.3(FANCB):c.2154A>G (p.Ile718Met)Fanconi anemia [RCV001219942]uncertain significanceX1484451414844514Human1name
38482227CV929583single nucleotide variantNM_001018113.3(FANCB):c.1972T>A (p.Ser658Thr)Fanconi anemia [RCV001218370]uncertain significanceX1484469614844696Human1name
38489986CV929584single nucleotide variantNM_001018113.3(FANCB):c.1957G>A (p.Ala653Thr)Fanconi anemia [RCV001221950]uncertain significanceX1484471114844711Human1name
38491565CV929585single nucleotide variantNM_001018113.3(FANCB):c.1719G>T (p.Glu573Asp)Fanconi anemia [RCV001222930]|Fanconi anemia complementation group B [RCV002484210]uncertain significanceX1484506414845064Human2name
38492796CV929586single nucleotide variantNM_001018113.3(FANCB):c.1325A>C (p.Glu442Ala)Fanconi anemia [RCV001223805]uncertain significanceX1485304014853040Human1name
38479873CV939458single nucleotide variantNM_001018113.3(FANCB):c.1606C>T (p.Pro536Ser)Fanconi anemia [RCV001206161]|Fanconi anemia complementation group B [RCV002491624]uncertain significanceX1484517714845177Human2name
38497386CV951630single nucleotide variantNM_001018113.3(FANCB):c.2019G>C (p.Lys673Asn)Fanconi anemia [RCV001227031]uncertain significanceX1484464914844649Human1name
40814891CV971182single nucleotide variantNM_001018113.3(FANCB):c.1458C>G (p.Ser486Arg)Fanconi anemia [RCV003635955]|Fanconi anemia complementation group B [RCV001262342]|not provided [RCV004697094]uncertain significanceX1485054314850543Human2name
42722832CV985389single nucleotide variantNM_001018113.3(FANCB):c.2224T>C (p.Cys742Arg)Fanconi anemia complementation group B [RCV001292792]uncertain significanceX1484392314843923Human1name
126763183CV999627single nucleotide variantNM_001018113.3(FANCB):c.2439A>C (p.Arg813Ser)Fanconi anemia [RCV001300595]uncertain significanceX1484370814843708Human1name
126762512CV999628single nucleotide variantNM_001018113.3(FANCB):c.1858G>A (p.Val620Ile)Fanconi anemia [RCV001309910]uncertain significanceX1484492514844925Human1name
405068202CV2900476deletionNM_001018113.3(FANCB):c.455_458del (p.Phe152fs)Fanconi anemia [RCV003523631]pathogenicX1486505314865056Human1name
14975343CV678998deletionNM_001018113.3(FANCB):c.755_767del (p.Leu252fs)Fanconi anemia complementation group B [RCV000851554]pathogenicX1486474414864756Human1name
156066017CV2054390microsatelliteNM_001018113.3(FANCB):c.1300GAT[1] (p.Asp435del)Fanconi anemia [RCV002797255]uncertain significanceX1485306014853062Humanname
405052164CV2869754microsatelliteNM_001018113.3(FANCB):c.2201TCA[1] (p.Ile735del)Fanconi anemia [RCV003522235]uncertain significanceX1484394114843943Humanname
405161775CV2995083duplicationNM_001018113.3(FANCB):c.1159_1162dup (p.Tyr388fs)Fanconi anemia [RCV003637682]pathogenicX1485789614857897Human1name
12895208CV411142microsatelliteNM_001018113.3(FANCB):c.1695_1698del (p.Cys566fs)not provided [RCV000485610]pathogenicX1484508514845088Humanname
8569903CV45730microsatelliteNM_001018113.3(FANCB):c.1857_1858del (p.Arg619fs)Fanconi anemia complementation group B [RCV000030704]pathogenicX1484492514844926Humanname
14975349CV678982deletionNM_001018113.3(FANCB):c.1497_2580del (p.Ser500fs)Fanconi anemia complementation group B [RCV000851561]pathogenicX1484356714845286Human1name
14975359CV678983deletionNM_001018113.3(FANCB):c.2249_2252del (p.Gly750fs)Fanconi anemia complementation group B [RCV000851572]pathogenicX1484389514843898Human1name
14975357CV678985deletionNM_001018113.3(FANCB):c.2172_2175del (p.Thr725fs)Fanconi anemia complementation group B [RCV000851570]pathogenicX1484397214843975Human1name
14975350CV678992microsatelliteNM_001018113.3(FANCB):c.1811_1814del (p.Arg604fs)Fanconi anemia complementation group B [RCV000851563]pathogenicX1484496914844972Humanname
14975351CV678991insertionNM_001018113.3(FANCB):c.1856_1857insT (p.Arg619fs)Fanconi anemia complementation group B [RCV000851564]pathogenicX1484492614844927Human1name
597917790CV3861426deletionNM_001018113.3(FANCB):c.1027_1032del (p.Leu343_Leu344del)Fanconi anemia [RCV005204583]uncertain significanceX1485925414859259Human1name
150556340CV1296912indelNM_001018113.3(FANCB):c.2565_2569delinsTTTATAATTCTGT (p.Lys855_Ser857delinsAsnLeuTer)Fanconi anemia complementation group B [RCV002506771]|not provided [RCV001774202]uncertain significanceX1484357814843582Humanname