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241 records found for search term Habp2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
11600044CV320745single nucleotide variantNM_004132.5(HABP2):c.-3A>GFactor VII Marburg I Variant Thrombophilia [RCV000270195]|not provided [RCV001753759]likely benign|uncertain significance10113553119113553119Human1name
11611818CV309516single nucleotide variantNM_004132.4(HABP2):c.-71T>CFactor VII Marburg I Variant Thrombophilia [RCV000399909]|not provided [RCV003320628]likely benign10113553051113553051Human1name
11604047CV320281single nucleotide variantNM_004132.4(HABP2):c.-70T>CFactor VII Marburg I Variant Thrombophilia [RCV000305895]|not provided [RCV001653467]benign|likely benign10113553052113553052Human1name
11608837CV320283single nucleotide variantNM_004132.5(HABP2):c.-65C>GFactor VII Marburg I Variant Thrombophilia [RCV000360136]uncertain significance10113553057113553057Human1name
28906768CV865445single nucleotide variantNM_004132.5(HABP2):c.-58G>CFactor VII Marburg I Variant Thrombophilia [RCV001106838]|not provided [RCV003128767]likely benign10113553064113553064Human1name
28907115CV865470single nucleotide variantNM_004132.5(HABP2):c.*29C>TFactor VII Marburg I Variant Thrombophilia [RCV001107040]uncertain significance10113588398113588398Human1name
28907117CV865471single nucleotide variantNM_004132.5(HABP2):c.*51G>AFactor VII Marburg I Variant Thrombophilia [RCV001107041]uncertain significance10113588420113588420Human1name
11657401CV309517deletionNM_004132.4(HABP2):c.-70delTFactor VII Marburg I Variant Thrombophilia [RCV000340903]uncertain significance10113553048113553048Human1name
11607957CV309544single nucleotide variantNM_004132.5(HABP2):c.*527C>TFactor VII Marburg I Variant Thrombophilia [RCV000349161]uncertain significance10113588896113588896Human1name
11651767CV309548single nucleotide variantNM_004132.5(HABP2):c.*765C>TFactor VII Marburg I Variant Thrombophilia [RCV000300970]uncertain significance10113589134113589134Human1name
11645732CV309555single nucleotide variantNM_004132.5(HABP2):c.*919T>GFactor VII Marburg I Variant Thrombophilia [RCV000267152]uncertain significance10113589288113589288Human1name
11602173CV314345single nucleotide variantNM_004132.5(HABP2):c.*258C>TFactor VII Marburg I Variant Thrombophilia [RCV000288482]|not provided [RCV004692891]uncertain significance10113588627113588627Human1name
11605695CV320326single nucleotide variantNM_004132.5(HABP2):c.*235C>TFactor VII Marburg I Variant Thrombophilia [RCV000322635]uncertain significance10113588604113588604Human1name
11611390CV320341single nucleotide variantNM_004132.5(HABP2):c.*418C>TFactor VII Marburg I Variant Thrombophilia [RCV000394120]uncertain significance10113588787113588787Human1name
11663077CV320354single nucleotide variantNM_004132.5(HABP2):c.*682T>GFactor VII Marburg I Variant Thrombophilia [RCV000392252]uncertain significance10113589051113589051Human1name
11599457CV320359single nucleotide variantNM_004132.5(HABP2):c.*823C>TFactor VII Marburg I Variant Thrombophilia [RCV000265934]uncertain significance10113589192113589192Human1name
11608936CV320360single nucleotide variantNM_004132.5(HABP2):c.*869T>GFactor VII Marburg I Variant Thrombophilia [RCV000361792]likely benign|uncertain significance10113589238113589238Human1name
11610548CV320770single nucleotide variantNM_004132.5(HABP2):c.*236A>CFactor VII Marburg I Variant Thrombophilia [RCV000382956]uncertain significance10113588605113588605Human1name
11607861CV320782single nucleotide variantNM_004132.5(HABP2):c.*365A>GFactor VII Marburg I Variant Thrombophilia [RCV000348220]likely benign|uncertain significance10113588734113588734Human1name
11650630CV320793single nucleotide variantNM_004132.5(HABP2):c.*467C>TFactor VII Marburg I Variant Thrombophilia [RCV000294193]uncertain significance10113588836113588836Human1name
11608393CV320794single nucleotide variantNM_004132.5(HABP2):c.*644T>GFactor VII Marburg I Variant Thrombophilia [RCV000354734]uncertain significance10113589013113589013Human1name
11654855CV320808single nucleotide variantNM_004132.5(HABP2):c.*859A>GFactor VII Marburg I Variant Thrombophilia [RCV000320992]uncertain significance10113589228113589228Human1name
28907119CV865472single nucleotide variantNM_004132.5(HABP2):c.*155T>AFactor VII Marburg I Variant Thrombophilia [RCV001107042]uncertain significance10113588524113588524Human1name
28907122CV865473single nucleotide variantNM_004132.5(HABP2):c.*349C>TFactor VII Marburg I Variant Thrombophilia [RCV001107043]uncertain significance10113588718113588718Human1name
28907124CV865474single nucleotide variantNM_004132.5(HABP2):c.*360A>CFactor VII Marburg I Variant Thrombophilia [RCV001107044]uncertain significance10113588729113588729Human1name
28908213CV865475single nucleotide variantNM_004132.5(HABP2):c.*565A>GFactor VII Marburg I Variant Thrombophilia [RCV001107701]likely benign10113588934113588934Human1name
28901003CV865476single nucleotide variantNM_004132.5(HABP2):c.*802G>TFactor VII Marburg I Variant Thrombophilia [RCV001104069]uncertain significance10113589171113589171Human1name
28901006CV865477single nucleotide variantNM_004132.5(HABP2):c.*813C>TFactor VII Marburg I Variant Thrombophilia [RCV001104070]uncertain significance10113589182113589182Human1name
28901009CV865478single nucleotide variantNM_004132.5(HABP2):c.*822C>TFactor VII Marburg I Variant Thrombophilia [RCV001104071]uncertain significance10113589191113589191Human1name
150455448CV1277795single nucleotide variantNM_004132.5(HABP2):c.70-55A>Gnot provided [RCV001708972]benign10113567434113567434Humanname
155268717CV1705544single nucleotide variantNM_004132.5(HABP2):c.70-43G>Cnot provided [RCV002286150]likely benign10113567446113567446Humanname
11609910CV309527single nucleotide variantNM_004132.5(HABP2):c.568+9C>TFactor VII Marburg I Variant Thrombophilia [RCV000374086]|not provided [RCV000947284]benign|likely benign10113578154113578154Human1name
11655331CV309572single nucleotide variantNM_004132.5(HABP2):c.*1039T>CFactor VII Marburg I Variant Thrombophilia [RCV000325192]uncertain significance10113589408113589408Human1name
11649921CV314354single nucleotide variantNM_004132.5(HABP2):c.*1052G>AFactor VII Marburg I Variant Thrombophilia [RCV000289965]uncertain significance10113589421113589421Human1name
11607013CV320310single nucleotide variantNM_004132.5(HABP2):c.568+3A>GFactor VII Marburg I Variant Thrombophilia [RCV000338306]|HABP2-related disorder [RCV005355626]uncertain significance10113578148113578148Human2name , trait , alternate_id
11662248CV320366single nucleotide variantNM_004132.5(HABP2):c.*1051C>TFactor VII Marburg I Variant Thrombophilia [RCV000384471]uncertain significance10113589420113589420Human1name
11603013CV320367single nucleotide variantNM_004132.5(HABP2):c.*1159C>TFactor VII Marburg I Variant Thrombophilia [RCV000295780]uncertain significance10113589528113589528Human1name
11656088CV320828single nucleotide variantNM_004132.5(HABP2):c.*1088T>CFactor VII Marburg I Variant Thrombophilia [RCV000330913]uncertain significance10113589457113589457Human1name
11610707CV320830single nucleotide variantNM_004132.5(HABP2):c.*1115C>AFactor VII Marburg I Variant Thrombophilia [RCV000385416]|not provided [RCV004706755]likely benign10113589484113589484Human1name
11608080CV320831single nucleotide variantNM_004132.5(HABP2):c.*1160G>AFactor VII Marburg I Variant Thrombophilia [RCV000350609]|not provided [RCV004718208]benign|likely benign10113589529113589529Human1name
598225907CV3895699single nucleotide variantNM_004132.5(HABP2):c.838+2T>CThyroid cancer, nonmedullary, 5 [RCV005362014]uncertain significance10113580694113580694Human1name
28901753CV865479single nucleotide variantNM_004132.5(HABP2):c.*1124C>AFactor VII Marburg I Variant Thrombophilia [RCV001104378]uncertain significance10113589493113589493Human1name
28907277CV865480single nucleotide variantNM_004132.5(HABP2):c.*1175C>TFactor VII Marburg I Variant Thrombophilia [RCV001107125]uncertain significance10113589544113589544Human1name
28906944CV868447single nucleotide variantNM_004132.5(HABP2):c.740+7T>AFactor VII Marburg I Variant Thrombophilia [RCV001106938]|HABP2-related disorder [RCV003906202]likely benign10113578805113578805Human2name , trait , alternate_id
150333906CV1169371single nucleotide variantNM_004132.5(HABP2):c.740+58A>Gnot provided [RCV001537528]benign10113578856113578856Humanname
150514188CV1210903single nucleotide variantNM_004132.5(HABP2):c.70-309C>Anot provided [RCV001598946]benign10113567180113567180Humanname
150516216CV1216481single nucleotide variantNM_004132.5(HABP2):c.838+41G>Anot provided [RCV001608672]benign10113580733113580733Humanname
150504006CV1240668single nucleotide variantNM_004132.5(HABP2):c.839-90G>Cnot provided [RCV001657511]benign10113581786113581786Humanname
150468788CV1243051single nucleotide variantNM_004132.5(HABP2):c.70-208A>Gnot provided [RCV001650569]benign10113567281113567281Humanname
150437757CV1249924single nucleotide variantNM_004132.5(HABP2):c.331+80A>Gnot provided [RCV001665838]benign10113576084113576084Humanname
150482622CV1261649single nucleotide variantNM_004132.5(HABP2):c.70-298C>Gnot provided [RCV001686252]benign10113567191113567191Humanname
150465342CV1268593single nucleotide variantNM_004132.5(HABP2):c.70-177G>Anot provided [RCV001694289]benign10113567312113567312Humanname
150471273CV1270043single nucleotide variantNM_004132.5(HABP2):c.70-164A>Gnot provided [RCV001695331]benign10113567325113567325Humanname
150498000CV1271436single nucleotide variantNM_004132.5(HABP2):c.70-200C>Gnot provided [RCV001689126]benign10113567289113567289Humanname
150498363CV1271498single nucleotide variantNM_004132.5(HABP2):c.569-81T>Cnot provided [RCV001689188]benign10113578546113578546Humanname
150441779CV1287621single nucleotide variantNM_004132.5(HABP2):c.70-303G>Anot provided [RCV001725341]benign10113567186113567186Humanname
150541766CV1306540single nucleotide variantNM_004132.5(HABP2):c.741-81C>Tnot provided [RCV001768163]likely benign10113580514113580514Humanname
150535050CV1306785single nucleotide variantNM_004132.5(HABP2):c.449-84T>Cnot provided [RCV001757783]likely benign10113577942113577942Humanname
150542339CV1307738single nucleotide variantNM_004132.5(HABP2):c.223+76G>Tnot provided [RCV001769513]likely benign10113574481113574481Humanname
150532436CV1309192single nucleotide variantNM_004132.5(HABP2):c.838+38G>Anot provided [RCV001752873]likely benign10113580730113580730Humanname
11609546CV320314single nucleotide variantNM_004132.5(HABP2):c.1095-6T>CFactor VII Marburg I Variant Thrombophilia [RCV000369911]|not provided [RCV001753760]likely benign|uncertain significance10113583210113583210Human1name
405270736CV3219767single nucleotide variantNM_004132.5(HABP2):c.1094+9C>AHABP2-related disorder [RCV003971508]likely benign10113582140113582140Humanname , trait , alternate_id
28900535CV868445single nucleotide variantNM_004132.5(HABP2):c.332-10T>GFactor VII Marburg I Variant Thrombophilia [RCV001103877]uncertain significance10113577140113577140Human1name
28900546CV868446single nucleotide variantNM_004132.5(HABP2):c.448+14G>AFactor VII Marburg I Variant Thrombophilia [RCV001103881]likely benign10113577280113577280Human1name
28901502CV868449single nucleotide variantNM_004132.5(HABP2):c.1238-2A>GFactor VII Marburg I Variant Thrombophilia [RCV001104280]likely benign10113584146113584146Human1name
150434839CV1215991single nucleotide variantNM_004132.5(HABP2):c.106+205G>Anot provided [RCV001609180]benign10113567730113567730Humanname
150499240CV1224556single nucleotide variantNM_004132.5(HABP2):c.331+220T>Cnot provided [RCV001620387]benign10113576224113576224Human1name
150499240CV1224556single nucleotide variantNM_004132.5(HABP2):c.331+220T>Cnot provided [RCV001620387]benign10113576224113576225Human1name
150507094CV1226506single nucleotide variantNM_004132.5(HABP2):c.223+142T>Cnot provided [RCV001635874]benign10113574547113574547Humanname
150516843CV1227282single nucleotide variantNM_004132.5(HABP2):c.449-100A>Tnot provided [RCV001639382]benign10113577926113577926Humanname
150430153CV1232028single nucleotide variantNM_004132.5(HABP2):c.448+316T>Cnot provided [RCV001641290]benign10113577582113577582Humanname
150430257CV1232085single nucleotide variantNM_004132.5(HABP2):c.1238-76A>Tnot provided [RCV001641347]benign10113584072113584072Humanname
150440886CV1233455single nucleotide variantNM_004132.5(HABP2):c.107-297T>Anot provided [RCV001645143]benign10113573992113573992Humanname
150435586CV1233897single nucleotide variantNM_004132.5(HABP2):c.106+201T>Cnot provided [RCV001644024]benign10113567726113567726Humanname
150483608CV1248260single nucleotide variantNM_004132.5(HABP2):c.106+243G>Anot provided [RCV001673475]benign10113567768113567768Humanname
150468627CV1259524single nucleotide variantNM_004132.5(HABP2):c.224-233G>Tnot provided [RCV001683824]benign10113575664113575664Humanname
150445664CV1261236single nucleotide variantNM_004132.5(HABP2):c.106+203A>Cnot provided [RCV001679910]benign10113567728113567728Humanname
150458849CV1263919single nucleotide variantNM_004132.5(HABP2):c.106+115A>Gnot provided [RCV001681833]benign10113567640113567640Humanname
150443196CV1264561single nucleotide variantNM_004132.5(HABP2):c.1238-55C>Gnot provided [RCV001679545]benign10113584093113584093Humanname
150446143CV1271825single nucleotide variantNM_004132.5(HABP2):c.1519-76C>Anot provided [RCV001691239]benign10113588129113588129Humanname
150474631CV1272363duplicationNM_004132.5(HABP2):c.223+148dupnot provided [RCV001695901]benign10113574545113574546Humanname
150472699CV1272532single nucleotide variantNM_004132.5(HABP2):c.740+231G>Anot provided [RCV001695588]benign10113579029113579029Humanname
150496415CV1272890single nucleotide variantNM_004132.5(HABP2):c.224-116C>Tnot provided [RCV001688813]benign10113575781113575781Humanname
150463587CV1273174duplicationNM_004132.5(HABP2):c.740+312dupnot provided [RCV001693931]benign10113579094113579095Humanname
150453794CV1276898single nucleotide variantNM_004132.5(HABP2):c.106+246C>Gnot provided [RCV001708688]benign10113567771113567771Humanname
150455919CV1278424single nucleotide variantNM_004132.5(HABP2):c.449-247C>Gnot provided [RCV001709039]benign10113577779113577779Humanname
150458390CV1278762single nucleotide variantNM_004132.5(HABP2):c.332-151A>Cnot provided [RCV001709379]benign10113576999113576999Humanname
150476856CV1279340single nucleotide variantNM_004132.5(HABP2):c.838+147C>Tnot provided [RCV001714049]benign10113580839113580839Humanname
150471539CV1281009deletionNM_004132.5(HABP2):c.740+312delnot provided [RCV001713207]benign10113579095113579095Humanname
8651612CV128187single nucleotide variantNM_004132.3(HABP2):c.69+2141T>GLung cancer [RCV000108674]uncertain significance10113555331113555331Humanname
150541783CV1306549single nucleotide variantNM_004132.5(HABP2):c.838+208G>Tnot provided [RCV001768172]likely benign10113580900113580900Humanname
150542890CV1306641single nucleotide variantNM_004132.5(HABP2):c.107-273C>Tnot provided [RCV001769705]likely benign10113574016113574016Humanname
150535639CV1306918single nucleotide variantNM_004132.5(HABP2):c.332-341C>Anot provided [RCV001758972]likely benign10113576809113576809Humanname
150535712CV1307018single nucleotide variantNM_004132.5(HABP2):c.449-108G>Anot provided [RCV001759072]likely benign10113577918113577918Humanname
150535714CV1307019single nucleotide variantNM_004132.5(HABP2):c.568+202A>Tnot provided [RCV001759073]likely benign10113578347113578347Humanname
150542342CV1307739single nucleotide variantNM_004132.5(HABP2):c.107-220A>Gnot provided [RCV001769514]likely benign10113574069113574069Humanname
150534733CV1307928single nucleotide variantNM_004132.5(HABP2):c.223+129A>Gnot provided [RCV001757650]likely benign10113574534113574534Humanname
150536041CV1309103single nucleotide variantNM_004132.5(HABP2):c.223+214G>Anot provided [RCV001759310]likely benign10113574619113574619Humanname
150536160CV1309156single nucleotide variantNM_004132.5(HABP2):c.223+286G>Tnot provided [RCV001759363]likely benign10113574691113574691Humanname
152980615CV1676026single nucleotide variantNM_004132.5(HABP2):c.331+236A>Gnot provided [RCV002245095]likely benign10113576240113576240Humanname
28900795CV868448single nucleotide variantNM_004132.5(HABP2):c.1238-15T>GFactor VII Marburg I Variant Thrombophilia [RCV001103990]uncertain significance10113584133113584133Human1name
150331279CV1172049single nucleotide variantNM_004132.5(HABP2):c.1238-207G>Anot provided [RCV001538565]benign10113583941113583941Humanname
150443641CV1249308single nucleotide variantNM_004132.5(HABP2):c.1238-104C>Tnot provided [RCV001666740]benign10113584044113584044Humanname
150473371CV1252396single nucleotide variantNM_004132.5(HABP2):c.1373-261C>Tnot provided [RCV001671598]benign10113585532113585532Humanname
150464901CV1252791single nucleotide variantNM_004132.5(HABP2):c.1238-321C>Tnot provided [RCV001670115]benign10113583827113583827Humanname
150490858CV1267682single nucleotide variantNM_004132.5(HABP2):c.1518+153T>Cnot provided [RCV001687706]benign10113586091113586091Humanname
150468457CV1267937single nucleotide variantNM_004132.5(HABP2):c.1519-316C>Anot provided [RCV001694800]benign10113587889113587889Humanname
150435878CV1270874single nucleotide variantNM_004132.5(HABP2):c.1372+314A>Gnot provided [RCV001689424]benign10113584596113584596Humanname
150492389CV1281068single nucleotide variantNM_004132.5(HABP2):c.1237+170C>Tnot provided [RCV001716803]benign10113583528113583528Humanname
150532721CV1308082single nucleotide variantNM_004132.5(HABP2):c.1095-183C>Tnot provided [RCV001753072]likely benign10113583033113583033Humanname
151730161CV1517755single nucleotide variantNM_004132.5(HABP2):c.1518+104A>Tnot provided [RCV002052370]likely benign10113586042113586042Humanname
153001046CV1684257single nucleotide variantNM_004132.5(HABP2):c.1373-199T>Cnot provided [RCV002255767]likely benign10113585594113585594Humanname
150453813CV1260570single nucleotide variantNM_001177660.3(HABP2):c.-10+1886G>Anot provided [RCV001681062]benign10113552847113552847Humanname
11652728CV320285single nucleotide variantNM_004132.5(HABP2):c.63C>T (p.Ala21=)Factor VII Marburg I Variant Thrombophilia [RCV000306617]uncertain significance10113553184113553184Human1name
156268016CV2305717single nucleotide variantNM_004132.5(HABP2):c.15G>A (p.Met5Ile)not specified [RCV004167535]uncertain significance10113553136113553136Humanname
11606367CV314323single nucleotide variantNM_004132.5(HABP2):c.183C>T (p.His61=)Factor VII Marburg I Variant Thrombophilia [RCV000330830]|HABP2-related disorder [RCV003977858]|not provided [RCV001597046]benign|likely benign10113574365113574365Human2name , trait , alternate_id
11600830CV314324single nucleotide variantNM_004132.5(HABP2):c.267C>T (p.Leu89=)Factor VII Marburg I Variant Thrombophilia [RCV000276918]uncertain significance10113575940113575940Human1name
11610722CV320754single nucleotide variantNM_004132.5(HABP2):c.207C>T (p.Tyr69=)Factor VII Marburg I Variant Thrombophilia [RCV000385322]|not provided [RCV004692890]|not specified [RCV003479097]likely benign|uncertain significance10113574389113574389Human1name
15195458CV723772single nucleotide variantNM_004132.5(HABP2):c.177T>A (p.Leu59=)Factor VII Marburg I Variant Thrombophilia [RCV001107502]|not provided [RCV000889509]benign|uncertain significance10113574359113574359Human1name
15160031CV723773single nucleotide variantNM_004132.5(HABP2):c.252C>T (p.His84=)Factor VII Marburg I Variant Thrombophilia [RCV001107503]|not provided [RCV000881305]benign|likely benign10113575925113575925Human1name
126911450CV1037960single nucleotide variantNM_004132.5(HABP2):c.83C>G (p.Ser28Cys)not provided [RCV001355363]uncertain significance10113567502113567502Humanname
155963682CV2197988single nucleotide variantNM_004132.5(HABP2):c.59C>T (p.Thr20Ile)not specified [RCV004077198]uncertain significance10113553180113553180Humanname
155930054CV2299693single nucleotide variantNM_004132.5(HABP2):c.80T>G (p.Met27Arg)not specified [RCV004148863]uncertain significance10113567499113567499Humanname
156190734CV2385047single nucleotide variantNM_004132.5(HABP2):c.85T>G (p.Leu29Val)not specified [RCV004228314]uncertain significance10113567504113567504Humanname
329402309CV2454127single nucleotide variantNM_004132.5(HABP2):c.57G>T (p.Lys19Asn)not specified [RCV004265624]uncertain significance10113553178113553178Humanname
11606498CV309521single nucleotide variantNM_004132.5(HABP2):c.396C>T (p.Pro132=)Factor VII Marburg I Variant Thrombophilia [RCV000332439]|HABP2-related disorder [RCV003950002]likely benign|uncertain significance10113577214113577214Human2name , trait , alternate_id
11604434CV314337single nucleotide variantNM_004132.5(HABP2):c.957G>A (p.Lys319=)Factor VII Marburg I Variant Thrombophilia [RCV000309209]|HABP2-related disorder [RCV003977859]|not provided [RCV001672417]benign|likely benign10113581994113581994Human2name , trait , alternate_id
11661096CV320309single nucleotide variantNM_004132.5(HABP2):c.402C>T (p.Tyr134=)Factor VII Marburg I Variant Thrombophilia [RCV000373142]uncertain significance10113577220113577220Human1name
11609288CV320753single nucleotide variantNM_004132.5(HABP2):c.95G>T (p.Ser32Ile)Factor VII Marburg I Variant Thrombophilia [RCV000366003]|not provided [RCV000973246]likely benign|uncertain significance10113567514113567514Human2name
11609288CV320753single nucleotide variantNM_004132.5(HABP2):c.95G>T (p.Ser32Ile)Factor VII Marburg I Variant Thrombophilia [RCV000366003]|not provided [RCV000973246]likely benign|uncertain significance10113567514113567515Human2name
11657778CV320755single nucleotide variantNM_004132.5(HABP2):c.930G>A (p.Lys310=)Factor VII Marburg I Variant Thrombophilia [RCV000344254]uncertain significance10113581967113581967Human1name
15193864CV723774single nucleotide variantNM_004132.5(HABP2):c.405C>A (p.Arg135=)Factor VII Marburg I Variant Thrombophilia [RCV001103880]|not provided [RCV000889062]benign|likely benign10113577223113577223Human1name
28906771CV865446single nucleotide variantNM_004132.5(HABP2):c.46C>G (p.Leu16Val)Factor VII Marburg I Variant Thrombophilia [RCV001106839]likely benign10113553167113553167Human1name
28900538CV865449single nucleotide variantNM_004132.5(HABP2):c.342G>A (p.Thr114=)Factor VII Marburg I Variant Thrombophilia [RCV001103878]|not specified [RCV004917667]likely benign|uncertain significance10113577160113577160Human1name
28901270CV865452single nucleotide variantNM_004132.5(HABP2):c.516C>G (p.Ser172=)Factor VII Marburg I Variant Thrombophilia [RCV001104164]uncertain significance10113578093113578093Human1name
28901281CV865455single nucleotide variantNM_004132.5(HABP2):c.633C>T (p.Asn211=)Factor VII Marburg I Variant Thrombophilia [RCV001104167]|not provided [RCV004707530]likely benign10113578691113578691Human1name
28906946CV865457single nucleotide variantNM_004132.5(HABP2):c.753G>A (p.Ala251=)Factor VII Marburg I Variant Thrombophilia [RCV001106939]|not provided [RCV003425931]likely benign|uncertain significance10113580607113580607Human1name
28908061CV865460single nucleotide variantNM_004132.5(HABP2):c.906A>G (p.Gly302=)Factor VII Marburg I Variant Thrombophilia [RCV001107597]uncertain significance10113581943113581943Human1name
28908066CV865462single nucleotide variantNM_004132.5(HABP2):c.951C>A (p.Gly317=)Factor VII Marburg I Variant Thrombophilia [RCV001107599]uncertain significance10113581988113581988Human1name
152979410CV1675546single nucleotide variantNM_004132.5(HABP2):c.1590C>T (p.Gly530=)Thyroid cancer, nonmedullary, 5 [RCV002244136]uncertain significance10113588276113588276Human1name
401747157CV2679022single nucleotide variantNM_004132.5(HABP2):c.253G>A (p.Gly85Ser)not specified [RCV004295030]uncertain significance10113575926113575926Humanname
401901702CV2797898single nucleotide variantNM_004132.5(HABP2):c.259G>A (p.Asp87Asn)HABP2-related disorder [RCV003393056]uncertain significance10113575932113575932Humanname , trait , alternate_id
401907882CV2809632single nucleotide variantNM_004132.5(HABP2):c.275G>C (p.Gly92Ala)not provided [RCV003422893]uncertain significance10113575948113575948Humanname
11605057CV309537single nucleotide variantNM_004132.5(HABP2):c.1050G>A (p.Ala350=)Factor VII Marburg I Variant Thrombophilia [RCV000315252]|HABP2-related disorder [RCV003977860]|not provided [RCV001707630]benign|likely benign10113582087113582087Human2name , trait , alternate_id
11598994CV309539single nucleotide variantNM_004132.5(HABP2):c.1542C>T (p.Thr514=)Factor VII Marburg I Variant Thrombophilia [RCV000261729]uncertain significance10113588228113588228Human1name
11646530CV320300single nucleotide variantNM_004132.5(HABP2):c.158A>G (p.Glu53Gly)Factor VII Marburg I Variant Thrombophilia [RCV000271133]uncertain significance10113574340113574340Human1name
405294144CV3203506single nucleotide variantNM_004132.5(HABP2):c.1266T>C (p.Gly422=)HABP2-related disorder [RCV003934035]benign10113584176113584176Humanname , trait , alternate_id
405272892CV3210241single nucleotide variantNM_004132.5(HABP2):c.1470T>C (p.Ser490=)HABP2-related disorder [RCV003914476]likely benign10113585890113585890Humanname , trait , alternate_id
405788167CV3269767single nucleotide variantNM_004132.5(HABP2):c.139G>A (p.Glu47Lys)not specified [RCV004398943]uncertain significance10113574321113574321Humanname
8626777CV81921single nucleotide variantNM_004132.3(HABP2):c.1128G>A (p.Gly376=)Malignant melanoma [RCV000062000]not provided10113583249113583249Humanname
28907934CV865447single nucleotide variantNM_004132.5(HABP2):c.148A>T (p.Asn50Tyr)Factor VII Marburg I Variant Thrombophilia [RCV001107501]|not specified [RCV004032126]uncertain significance10113574330113574330Human1name
28900533CV865448single nucleotide variantNM_004132.5(HABP2):c.268G>A (p.Val90Ile)Factor VII Marburg I Variant Thrombophilia [RCV001103876]|HABP2-related disorder [RCV003945812]|not provided [RCV004706004]likely benign10113575941113575941Human2name , trait , alternate_id
28900788CV865466single nucleotide variantNM_004132.5(HABP2):c.1092C>T (p.Thr364=)Factor VII Marburg I Variant Thrombophilia [RCV001103988]uncertain significance10113582129113582129Human1name
28900791CV865467single nucleotide variantNM_004132.5(HABP2):c.1107A>G (p.Arg369=)Factor VII Marburg I Variant Thrombophilia [RCV001103989]uncertain significance10113583228113583228Human1name
156328508CV2213625single nucleotide variantNM_004132.5(HABP2):c.365G>T (p.Arg122Leu)not specified [RCV004089709]uncertain significance10113577183113577183Humanname
156383754CV2220186single nucleotide variantNM_004132.5(HABP2):c.841G>A (p.Val281Ile)not specified [RCV004095654]likely benign10113581878113581878Humanname
155977190CV2231819single nucleotide variantNM_004132.5(HABP2):c.335A>G (p.Gln112Arg)not specified [RCV004098625]uncertain significance10113577153113577153Humanname
155919067CV2254797single nucleotide variantNM_004132.5(HABP2):c.663C>A (p.His221Gln)not specified [RCV004115264]uncertain significance10113578721113578721Humanname
156049129CV2271776single nucleotide variantNM_004132.5(HABP2):c.332T>C (p.Val111Ala)not specified [RCV004130615]uncertain significance10113577150113577150Humanname
156271889CV2280826single nucleotide variantNM_004132.5(HABP2):c.499C>T (p.Arg167Trp)not specified [RCV004145086]uncertain significance10113578076113578076Humanname
156354505CV2324290single nucleotide variantNM_004132.5(HABP2):c.637C>A (p.His213Asn)not specified [RCV004177018]uncertain significance10113578695113578695Humanname
155965395CV2330568single nucleotide variantNM_004132.5(HABP2):c.787A>G (p.Asn263Asp)not specified [RCV004181125]uncertain significance10113580641113580641Humanname
156325350CV2335244single nucleotide variantNM_004132.5(HABP2):c.471C>A (p.Asn157Lys)not specified [RCV004186814]uncertain significance10113578048113578048Humanname
155984083CV2348194single nucleotide variantNM_004132.5(HABP2):c.706G>A (p.Glu236Lys)not specified [RCV004190836]uncertain significance10113578764113578764Humanname
155925385CV2358316single nucleotide variantNM_004132.5(HABP2):c.387G>C (p.Gln129His)not specified [RCV004212097]uncertain significance10113577205113577205Humanname
155984469CV2367933single nucleotide variantNM_004132.5(HABP2):c.427A>G (p.Thr143Ala)not specified [RCV004223030]uncertain significance10113577245113577245Humanname
329390913CV2437423single nucleotide variantNM_004132.5(HABP2):c.473C>T (p.Pro158Leu)not specified [RCV004256290]uncertain significance10113578050113578050Humanname
329356346CV2460267single nucleotide variantNM_004132.5(HABP2):c.365G>A (p.Arg122Gln)not specified [RCV004266820]uncertain significance10113577183113577183Humanname
401771319CV2701000single nucleotide variantNM_004132.5(HABP2):c.398A>C (p.Tyr133Ser)not specified [RCV004307254]uncertain significance10113577216113577216Humanname
401766457CV2725556single nucleotide variantNM_004132.5(HABP2):c.578A>T (p.Asp193Val)not specified [RCV004321955]uncertain significance10113578636113578636Humanname
401879235CV2788010single nucleotide variantNM_004132.5(HABP2):c.641C>T (p.Ala214Val)not specified [RCV004358663]uncertain significance10113578699113578699Humanname
11601015CV309526single nucleotide variantNM_004132.5(HABP2):c.497C>T (p.Ser166Phe)Factor VII Marburg I Variant Thrombophilia [RCV000278601]likely benign|uncertain significance10113578074113578074Human1name
11601652CV309531single nucleotide variantNM_004132.5(HABP2):c.752C>T (p.Ala251Val)Factor VII Marburg I Variant Thrombophilia [RCV000284254]|not specified [RCV004619254]uncertain significance10113580606113580606Human1name
11604327CV309532single nucleotide variantNM_004132.5(HABP2):c.905G>A (p.Gly302Glu)Factor VII Marburg I Variant Thrombophilia [RCV000308139]uncertain significance10113581942113581942Human1name
11607108CV314334single nucleotide variantNM_004132.5(HABP2):c.807A>C (p.Glu269Asp)Factor VII Marburg I Variant Thrombophilia [RCV000339332]uncertain significance10113580661113580661Human1name
11611963CV314335single nucleotide variantNM_004132.5(HABP2):c.830C>T (p.Ser277Leu)Factor VII Marburg I Variant Thrombophilia [RCV000401497]|not provided [RCV000947285]benign|likely benign10113580684113580684Human1name
11611788CV314336single nucleotide variantNM_004132.5(HABP2):c.947G>A (p.Gly316Glu)Factor VII Marburg I Variant Thrombophilia [RCV000399498]|Thrombophilia due to thrombin defect [RCV002504050]|not provided [RCV000950753]benign|likely benign10113581984113581984Human2name
405788178CV3269769single nucleotide variantNM_004132.5(HABP2):c.341C>T (p.Thr114Met)not specified [RCV004398945]uncertain significance10113577159113577159Humanname
405788183CV3269770single nucleotide variantNM_004132.5(HABP2):c.403C>T (p.Arg135Cys)not specified [RCV004398946]uncertain significance10113577221113577221Humanname
405788189CV3269771single nucleotide variantNM_004132.5(HABP2):c.487G>A (p.Ala163Thr)not specified [RCV004398947]uncertain significance10113578064113578064Humanname
405788194CV3269772single nucleotide variantNM_004132.5(HABP2):c.488C>T (p.Ala163Val)not specified [RCV004398948]uncertain significance10113578065113578065Humanname
405788198CV3269773single nucleotide variantNM_004132.5(HABP2):c.550G>A (p.Gly184Arg)not specified [RCV004398949]uncertain significance10113578127113578127Humanname
405788213CV3269776single nucleotide variantNM_004132.5(HABP2):c.701A>G (p.Asp234Gly)not specified [RCV004398952]uncertain significance10113578759113578759Humanname
405788218CV3269777single nucleotide variantNM_004132.5(HABP2):c.802T>C (p.Trp268Arg)not specified [RCV004398953]uncertain significance10113580656113580656Humanname
405788223CV3269778single nucleotide variantNM_004132.5(HABP2):c.883C>T (p.Leu295Phe)not specified [RCV004398954]uncertain significance10113581920113581920Humanname
405788228CV3269779single nucleotide variantNM_004132.5(HABP2):c.962C>T (p.Thr321Met)not specified [RCV004398955]uncertain significance10113581999113581999Humanname
405788238CV3269781single nucleotide variantNM_004132.5(HABP2):c.985G>A (p.Ala329Thr)not specified [RCV004398957]uncertain significance10113582022113582022Humanname
405788243CV3269782single nucleotide variantNM_004132.5(HABP2):c.986C>T (p.Ala329Val)not specified [RCV004398958]uncertain significance10113582023113582023Humanname
407513921CV3443881single nucleotide variantNM_004132.5(HABP2):c.890G>T (p.Gly297Val)not specified [RCV004627358]uncertain significance10113581927113581927Humanname
407513927CV3443883single nucleotide variantNM_004132.5(HABP2):c.383C>G (p.Thr128Ser)not specified [RCV004627360]uncertain significance10113577201113577201Humanname
407513930CV3443884single nucleotide variantNM_004132.5(HABP2):c.619A>G (p.Asn207Asp)not specified [RCV004627361]uncertain significance10113578677113578677Humanname
596938422CV3550227single nucleotide variantNM_004132.5(HABP2):c.965C>T (p.Ala322Val)Thyroid cancer, nonmedullary, 5 [RCV004813529]uncertain significance10113582002113582002Human1name
597780933CV3685477single nucleotide variantNM_004132.5(HABP2):c.447A>C (p.Gln149His)not specified [RCV004930768]uncertain significance10113577265113577265Humanname
597780938CV3685478single nucleotide variantNM_004132.5(HABP2):c.508C>T (p.Arg170Trp)not specified [RCV004930769]uncertain significance10113578085113578085Humanname
597780941CV3685480single nucleotide variantNM_004132.5(HABP2):c.827G>T (p.Cys276Phe)not specified [RCV004930770]uncertain significance10113580681113580681Humanname
597780946CV3685482single nucleotide variantNM_004132.5(HABP2):c.485G>A (p.Gly162Glu)not specified [RCV004930771]uncertain significance10113578062113578062Humanname
597708958CV3685484single nucleotide variantNM_004132.5(HABP2):c.534T>G (p.Cys178Trp)not specified [RCV004917261]uncertain significance10113578111113578111Humanname
28900540CV865450single nucleotide variantNM_004132.5(HABP2):c.364C>T (p.Arg122Trp)Factor VII Marburg I Variant Thrombophilia [RCV001103879]|HABP2-related disorder [RCV003953475]|Thrombophilia due to thrombin defect [RCV002497512]benign|likely benign10113577182113577182Human3name , trait , alternate_id
28901267CV865451single nucleotide variantNM_004132.5(HABP2):c.466C>T (p.Pro156Ser)Factor VII Marburg I Variant Thrombophilia [RCV001104163]uncertain significance10113578043113578043Human1name
28901273CV865453single nucleotide variantNM_004132.5(HABP2):c.538G>A (p.Asp180Asn)Factor VII Marburg I Variant Thrombophilia [RCV001104165]uncertain significance10113578115113578115Human1name
28901278CV865454single nucleotide variantNM_004132.5(HABP2):c.621T>G (p.Asn207Lys)Factor VII Marburg I Variant Thrombophilia [RCV001104166]uncertain significance10113578679113578679Human1name
28906941CV865456single nucleotide variantNM_004132.5(HABP2):c.698A>G (p.Glu233Gly)Factor VII Marburg I Variant Thrombophilia [RCV001106937]uncertain significance10113578756113578756Human1name
28906949CV865458single nucleotide variantNM_004132.5(HABP2):c.866C>G (p.Thr289Ser)Factor VII Marburg I Variant Thrombophilia [RCV001106940]uncertain significance10113581903113581903Human1name
28906952CV865459single nucleotide variantNM_004132.5(HABP2):c.899C>T (p.Ser300Phe)Factor VII Marburg I Variant Thrombophilia [RCV001106941]|not specified [RCV004032122]uncertain significance10113581936113581936Human1name
28908064CV865461single nucleotide variantNM_004132.5(HABP2):c.933C>G (p.Ile311Met)Factor VII Marburg I Variant Thrombophilia [RCV001107598]uncertain significance10113581970113581970Human1name
28908068CV865463single nucleotide variantNM_004132.5(HABP2):c.953T>C (p.Phe318Ser)Factor VII Marburg I Variant Thrombophilia [RCV001107600]uncertain significance10113581990113581990Human1name
28908070CV865464single nucleotide variantNM_004132.5(HABP2):c.968G>A (p.Gly323Asp)Factor VII Marburg I Variant Thrombophilia [RCV001107601]uncertain significance10113582005113582005Human1name
8559034CV21013single nucleotide variantNM_004132.5(HABP2):c.1601G>A (p.Gly534Glu)FACTOR VII-ACTIVATING PROTEASE MARBURG I POLYMORPHISM [RCV000006338]|Factor VII Marburg I Variant Thrombophilia [RCV000286268]|THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO [RCV000190487]|Thyroid cancer, nonmedullary, 5 [RCV005364871]|Venous thromboembolism, susceptibility to [RCV000006340]|notpathogenic|risk factor|benign|likely benign|uncertain significance10113588287113588287Human41name
8559034CV21013single nucleotide variantNM_004132.5(HABP2):c.1601G>A (p.Gly534Glu)FACTOR VII-ACTIVATING PROTEASE MARBURG I POLYMORPHISM [RCV000006338]|Factor VII Marburg I Variant Thrombophilia [RCV000286268]|THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO [RCV000190487]|Thyroid cancer, nonmedullary, 5 [RCV005364871]|Venous thromboembolism, susceptibility to [RCV000006340]|notpathogenic|risk factor|benign|likely benign|uncertain significance10113588287113588288Human41name
156343367CV2232694single nucleotide variantNM_004132.5(HABP2):c.1427T>C (p.Leu476Ser)not specified [RCV004101354]uncertain significance10113585847113585847Humanname
156012228CV2291235single nucleotide variantNM_004132.5(HABP2):c.1291G>T (p.Val431Leu)not specified [RCV004153525]uncertain significance10113584201113584201Humanname
156332643CV2339814single nucleotide variantNM_004132.5(HABP2):c.1475T>A (p.Ile492Asn)not specified [RCV004196504]uncertain significance10113585895113585895Humanname
156040440CV2387604single nucleotide variantNM_004132.5(HABP2):c.1043G>A (p.Gly348Asp)not specified [RCV004234155]uncertain significance10113582080113582080Humanname
329393144CV2449520single nucleotide variantNM_004132.5(HABP2):c.1658C>G (p.Thr553Ser)not specified [RCV004268458]uncertain significance10113588344113588344Humanname
329362324CV2463815single nucleotide variantNM_004132.5(HABP2):c.1385G>A (p.Arg462His)not specified [RCV004279904]uncertain significance10113585805113585805Humanname
401719228CV2679461single nucleotide variantNM_004132.5(HABP2):c.1268A>T (p.His423Leu)not specified [RCV004285981]uncertain significance10113584178113584178Humanname
401872308CV2779445single nucleotide variantNM_004132.5(HABP2):c.1444C>T (p.Leu482Phe)not specified [RCV004351083]uncertain significance10113585864113585864Humanname
401884834CV2786592single nucleotide variantNM_004132.5(HABP2):c.1070T>G (p.Val357Gly)not specified [RCV004363732]uncertain significance10113582107113582107Humanname
11600483CV309533single nucleotide variantNM_004132.5(HABP2):c.1048G>A (p.Ala350Thr)Factor VII Marburg I Variant Thrombophilia [RCV000274089]|not specified [RCV004021466]uncertain significance10113582085113582085Human1name
11661414CV309542single nucleotide variantNM_004132.5(HABP2):c.1561T>C (p.Tyr521His)Factor VII Marburg I Variant Thrombophilia [RCV000376114]uncertain significance10113588247113588247Human1name
11609461CV314338single nucleotide variantNM_004132.5(HABP2):c.1030G>A (p.Gly344Ser)Factor VII Marburg I Variant Thrombophilia [RCV000368744]uncertain significance10113582067113582067Human1name
11608604CV314342single nucleotide variantNM_004132.5(HABP2):c.1379G>C (p.Gly460Ala)Factor VII Marburg I Variant Thrombophilia [RCV000357334]|HABP2-related disorder [RCV003910093]|not provided [RCV003422224]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance10113585799113585799Human2name , trait , alternate_id
11644695CV320316single nucleotide variantNM_004132.5(HABP2):c.1156C>T (p.His386Tyr)Factor VII Marburg I Variant Thrombophilia [RCV000261272]uncertain significance10113583277113583277Human1name
11605170CV320759single nucleotide variantNM_004132.5(HABP2):c.1177G>C (p.Glu393Gln)Factor VII Marburg I Variant Thrombophilia [RCV000316525]|not provided [RCV001753761]likely benign10113583298113583298Human1name
11605596CV320762single nucleotide variantNM_004132.5(HABP2):c.1555G>A (p.Gly519Ser)Factor VII Marburg I Variant Thrombophilia [RCV000321532]|not specified [RCV005348100]uncertain significance10113588241113588241Human1name
405788152CV3269764single nucleotide variantNM_004132.5(HABP2):c.1049C>T (p.Ala350Val)not specified [RCV004398940]uncertain significance10113582086113582086Humanname
405788156CV3269765single nucleotide variantNM_004132.5(HABP2):c.1312G>C (p.Asp438His)not specified [RCV004398941]uncertain significance10113584222113584222Humanname
405788162CV3269766single nucleotide variantNM_004132.5(HABP2):c.1328C>G (p.Ser443Cys)not specified [RCV004398942]uncertain significance10113584238113584238Humanname
405788173CV3269768single nucleotide variantNM_004132.5(HABP2):c.1571A>G (p.Tyr524Cys)not specified [RCV004398944]uncertain significance10113588257113588257Humanname
405854599CV3392459single nucleotide variantNM_004132.5(HABP2):c.1520G>T (p.Gly507Val)Thyroid cancer, nonmedullary, 5 [RCV004527488]uncertain significance10113588206113588206Human1name
407513924CV3443882single nucleotide variantNM_004132.5(HABP2):c.1191G>C (p.Lys397Asn)not specified [RCV004627359]uncertain significance10113583312113583312Humanname
597708928CV3685476single nucleotide variantNM_004132.5(HABP2):c.1609C>G (p.Pro537Ala)not specified [RCV004917258]uncertain significance10113588295113588295Humanname
597708940CV3685479single nucleotide variantNM_004132.5(HABP2):c.1300G>C (p.Val434Leu)not specified [RCV004917259]uncertain significance10113584210113584210Humanname
597708949CV3685481single nucleotide variantNM_004132.5(HABP2):c.1661T>A (p.Ile554Asn)not specified [RCV004917260]uncertain significance10113588347113588347Humanname
597780949CV3685483single nucleotide variantNM_004132.5(HABP2):c.1400C>G (p.Ala467Gly)not specified [RCV004930772]uncertain significance10113585820113585820Humanname
598246120CV3971281single nucleotide variantNM_004132.5(HABP2):c.1127G>A (p.Gly376Glu)not specified [RCV005345111]uncertain significance10113583248113583248Humanname
598255070CV3971282single nucleotide variantNM_004132.5(HABP2):c.1457T>C (p.Met486Thr)not specified [RCV005346494]uncertain significance10113585877113585877Humanname
28908073CV865465single nucleotide variantNM_004132.5(HABP2):c.1006C>T (p.Pro336Ser)Factor VII Marburg I Variant Thrombophilia [RCV001107602]|not specified [RCV004032128]uncertain significance10113582043113582043Human1name
28901504CV865468single nucleotide variantNM_004132.5(HABP2):c.1384C>T (p.Arg462Cys)Factor VII Marburg I Variant Thrombophilia [RCV001104281]uncertain significance10113585804113585804Human1name
28901506CV865469single nucleotide variantNM_004132.5(HABP2):c.1637T>C (p.Phe546Ser)Factor VII Marburg I Variant Thrombophilia [RCV001104282]|not provided [RCV004693614]uncertain significance10113588323113588323Human1name
14693439CV620345duplicationNM_004132.5(HABP2):c.1159_1162dup (p.Gln388fs)Factor VII Marburg I Variant Thrombophilia [RCV000779016]uncertain significance10113583279113583280Humanname