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


236 records found for search term Msn
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
156443844CV1941114single nucleotide variantNM_002444.3(MSN):c.96+8G>Anot provided [RCV003114753]likely benignX6571690965716909Humanname
156380242CV2187412single nucleotide variantNM_002444.3(MSN):c.13-1G>Anot provided [RCV003050428]likely pathogenic|uncertain significanceX6571681765716817Humanname
401927204CV2829154single nucleotide variantNM_002444.3(MSN):c.13-5C>Anot provided [RCV003438434]uncertain significanceX6571681365716813Humanname
15099767CV761004single nucleotide variantNM_002444.3(MSN):c.96+7C>TMSN-related disorder [RCV003950804]|not provided [RCV000914505]benign|likely benignX6571690865716908Human1name , trait , alternate_id
151787274CV1393565single nucleotide variantNM_002444.3(MSN):c.960-4C>Tnot provided [RCV001972679]likely benignX6573679165736791Humanname
151844739CV1416884single nucleotide variantNM_002444.3(MSN):c.698+5A>Gnot provided [RCV001978133]uncertain significanceX6573198965731989Humanname
156398388CV1985457single nucleotide variantNM_002444.3(MSN):c.698+4T>Anot provided [RCV002635733]uncertain significanceX6573198865731988Humanname
156156819CV2094920deletionNM_002444.3(MSN):c.12+11delnot provided [RCV002890840]likely benignX6566786365667863Humanname
405005537CV3120838single nucleotide variantNM_002444.3(MSN):c.796-3C>Tnot provided [RCV003828441]benignX6573526465735264Humanname
405159004CV3124909single nucleotide variantNM_002444.3(MSN):c.12+10G>Anot provided [RCV003818180]likely benignX6566786365667863Humanname
405211634CV3173410single nucleotide variantNM_002444.3(MSN):c.13-10C>Anot provided [RCV003862159]likely benignX6571680865716808Humanname
597881900CV3810614single nucleotide variantNM_002444.3(MSN):c.796-6C>Tnot provided [RCV005149883]likely benignX6573526165735261Humanname
127306097CV1159771single nucleotide variantNM_002444.3(MSN):c.1345-8C>TMSN-related disorder [RCV003908841]|not provided [RCV001516505]benignX6573896265738962Human1name , trait , alternate_id
152035841CV1545844single nucleotide variantNM_002444.3(MSN):c.468-20A>Gnot provided [RCV002164922]likely benignX6573108765731087Humanname
152168697CV1548127single nucleotide variantNM_002444.3(MSN):c.960-14A>Gnot provided [RCV002161205]benignX6573678165736781Humanname
152066929CV1557127single nucleotide variantNM_002444.3(MSN):c.192+15C>Anot provided [RCV002191286]benignX6572792465727924Humanname
152163948CV1560321single nucleotide variantNM_002444.3(MSN):c.795+10T>Anot provided [RCV002160149]likely benignX6573329065733290Humanname
152068963CV1570713single nucleotide variantNM_002444.3(MSN):c.1569+8A>Cnot provided [RCV002129349]likely benignX6573920265739202Humanname
152071513CV1591619single nucleotide variantNM_002444.3(MSN):c.1252-8A>Tnot provided [RCV002210041]likely benignX6573851765738517Humanname
152075686CV1629504single nucleotide variantNM_002444.3(MSN):c.193-14C>Tnot provided [RCV002130184]likely benignX6572942465729424Humanname
156410724CV1929061single nucleotide variantNM_002444.3(MSN):c.1345-3C>Tnot provided [RCV002607960]benignX6573896765738967Humanname
156132587CV1962776single nucleotide variantNM_002444.3(MSN):c.193-10C>Tnot provided [RCV002572285]benignX6572942865729428Humanname
156417518CV1967003single nucleotide variantNM_002444.3(MSN):c.796-15C>Tnot provided [RCV002590232]likely benignX6573525265735252Humanname
155910532CV1980120single nucleotide variantNM_002444.3(MSN):c.1570-7C>Anot provided [RCV002613956]likely benignX6573972265739722Humanname
156139768CV2082259single nucleotide variantNM_002444.3(MSN):c.795+16C>Tnot provided [RCV002871940]likely benignX6573329665733296Humanname
156201580CV2110073single nucleotide variantNM_002444.3(MSN):c.1252-4G>Anot provided [RCV002957399]benignX6573852165738521Humanname
155966582CV2134899single nucleotide variantNM_002444.3(MSN):c.1091-8C>Tnot provided [RCV002972645]likely benignX6573717065737170Humanname
155994768CV2171500single nucleotide variantNM_002444.3(MSN):c.1344+7C>Gnot provided [RCV003034494]likely benignX6573862465738624Humanname
156209763CV2175603single nucleotide variantNM_002444.3(MSN):c.795+14C>Tnot provided [RCV003024760]likely benignX6573329465733294Humanname
405217453CV2972321single nucleotide variantNM_002444.3(MSN):c.468-18C>Tnot provided [RCV003680212]uncertain significanceX6573108965731089Humanname
405229339CV2973790single nucleotide variantNM_002444.3(MSN):c.468-14C>Tnot provided [RCV003681896]likely benignX6573109365731093Humanname
405082186CV3016993single nucleotide variantNM_002444.3(MSN):c.1344+7C>Tnot provided [RCV003699128]likely benignX6573862465738624Humanname
597926511CV3778506single nucleotide variantNM_002444.3(MSN):c.1251+1G>Anot provided [RCV005131029]likely pathogenicX6573733965737339Humanname
597941456CV3785796single nucleotide variantNM_002444.3(MSN):c.699-18T>Cnot provided [RCV005133689]likely benignX6573316665733166Humanname
597974477CV3831669single nucleotide variantNM_002444.3(MSN):c.552-10T>Cnot provided [RCV005168608]likely benignX6573182865731828Humanname
597945933CV3844981single nucleotide variantNM_002444.3(MSN):c.1570-3C>Tnot provided [RCV005188967]uncertain significanceX6573972665739726Humanname
597927620CV3855534single nucleotide variantNM_002444.3(MSN):c.193-20A>Cnot provided [RCV005206133]likely benignX6572941865729418Humanname
127295938CV1159772single nucleotide variantNM_002444.3(MSN):c.1570-14A>Gnot provided [RCV001512381]benignX6573971565739715Humanname
152158654CV1557235single nucleotide variantNM_002444.3(MSN):c.1091-18C>Gnot provided [RCV002203052]likely benignX6573716065737160Humanname
156330288CV1954044single nucleotide variantNM_002444.3(MSN):c.1569+16C>Tnot provided [RCV002579959]likely benignX6573921065739210Humanname
156281565CV1964406single nucleotide variantNM_002444.3(MSN):c.1091-11T>Cnot provided [RCV002577496]benignX6573716765737167Humanname
156192759CV2024216single nucleotide variantNM_002444.3(MSN):c.1344+17A>Cnot provided [RCV002711143]likely benignX6573863465738634Humanname
155983325CV2101141single nucleotide variantNM_002444.3(MSN):c.1091-13C>Tnot provided [RCV002882040]likely benignX6573716565737165Humanname
405164138CV3125252single nucleotide variantNM_002444.3(MSN):c.1344+11G>Anot provided [RCV003818524]likely benignX6573862865738628Humanname
405213540CV3127581single nucleotide variantNM_002444.3(MSN):c.1251+14G>Anot provided [RCV003823629]likely benignX6573735265737352Humanname
405057575CV3138645single nucleotide variantNM_002444.3(MSN):c.1344+20G>Anot provided [RCV003832490]likely benignX6573863765738637Humanname
597884944CV3834927single nucleotide variantNM_002444.3(MSN):c.1344+14C>Tnot provided [RCV005178651]benignX6573863165738631Humanname
405228213CV2980668insertionNM_002444.3(MSN):c.12+17_12+18insCnot provided [RCV003711070]likely benignX6566787065667871Humanname
156390670CV1991193single nucleotide variantNM_002444.3(MSN):c.60C>T (p.Ile20=)not provided [RCV002634957]likely benignX6571686565716865Humanname
155987134CV2030538single nucleotide variantNM_002444.3(MSN):c.75C>G (p.Thr25=)not provided [RCV002755588]likely benignX6571688065716880Humanname
155957620CV2033514single nucleotide variantNM_002444.3(MSN):c.78G>A (p.Gly26=)not provided [RCV002731012]likely benignX6571688365716883Humanname
156178954CV2177651single nucleotide variantNM_002444.3(MSN):c.93C>T (p.Asp31=)not provided [RCV003057466]likely benignX6571689865716898Humanname
597870165CV3749855single nucleotide variantNM_002444.3(MSN):c.72C>A (p.Thr24=)not provided [RCV005068536]likely benignX6571687765716877Humanname
151722489CV1406654single nucleotide variantNM_002444.3(MSN):c.22C>T (p.Arg8Cys)not provided [RCV002003870]uncertain significanceX6571682765716827Humanname
152146694CV1545702single nucleotide variantNM_002444.3(MSN):c.246C>G (p.Ala82=)not provided [RCV002157544]likely benignX6572949165729491Humanname
152113454CV1644639single nucleotide variantNM_002444.3(MSN):c.171C>T (p.Thr57=)not provided [RCV002174621]likely benignX6572788865727888Humanname
152040178CV1649143single nucleotide variantNM_002444.3(MSN):c.23G>A (p.Arg8His)not provided [RCV002206228]likely benignX6571682865716828Humanname
156211574CV1929193single nucleotide variantNM_002444.3(MSN):c.270C>T (p.Ser90=)not provided [RCV002644018]likely benignX6572951565729515Humanname
405240130CV3166104single nucleotide variantNM_002444.3(MSN):c.123A>G (p.Glu41=)not provided [RCV003867116]likely benignX6572784065727840Humanname
598127303CV3888118single nucleotide variantNM_002444.3(MSN):c.258T>G (p.Pro86=)not provided [RCV005242804]likely benignX6572950365729503Humanname
126915815CV1052518single nucleotide variantNM_002444.3(MSN):c.63G>T (p.Gln21His)not provided [RCV001360204]uncertain significanceX6571686865716868Humanname
127318589CV1159768single nucleotide variantNM_002444.3(MSN):c.528T>C (p.His176=)MSN-related disorder [RCV003980609]|not provided [RCV001521718]benignX6573116765731167Human1name , trait , alternate_id
152030490CV1534245single nucleotide variantNM_002444.3(MSN):c.373C>T (p.Leu125=)not provided [RCV002086149]likely benignX6572961865729618Humanname
152145033CV1543217single nucleotide variantNM_002444.3(MSN):c.657G>C (p.Gly219=)not provided [RCV002178591]likely benignX6573194365731943Humanname
152037569CV1572157single nucleotide variantNM_002444.3(MSN):c.429G>A (p.Lys143=)not provided [RCV002205845]likely benignX6572967465729674Humanname
152142341CV1587525single nucleotide variantNM_002444.3(MSN):c.906G>A (p.Val302=)not provided [RCV002138335]likely benignX6573537765735377Humanname
152165615CV1611397single nucleotide variantNM_002444.3(MSN):c.444C>T (p.Ala148=)not provided [RCV002141753]likely benignX6572968965729689Humanname
152032026CV1624646single nucleotide variantNM_002444.3(MSN):c.609G>A (p.Val203=)not provided [RCV002186818]likely benignX6573189565731895Humanname
152047382CV1656778single nucleotide variantNM_002444.3(MSN):c.354G>A (p.Pro118=)not provided [RCV002126806]benignX6572959965729599Humanname
156407151CV1874910single nucleotide variantNM_002444.3(MSN):c.363C>T (p.Thr121=)not provided [RCV003070747]likely benignX6572960865729608Humanname
156020176CV1902903single nucleotide variantNM_002444.3(MSN):c.768C>A (p.Val256=)MSN-related disorder [RCV003963634]|not provided [RCV003100156]benign|likely benignX6573325365733253Human1name , trait , alternate_id
156295528CV2065288single nucleotide variantNM_002444.3(MSN):c.49G>T (p.Glu17Ter)not provided [RCV002856924]pathogenic|uncertain significanceX6571685465716854Humanname
155998368CV2074464single nucleotide variantNM_002444.3(MSN):c.342T>C (p.Asp114=)not provided [RCV002843289]likely benignX6572958765729587Humanname
155981523CV2140486single nucleotide variantNM_002444.3(MSN):c.639C>T (p.Gly213=)not provided [RCV002996126]likely benignX6573192565731925Humanname
156358995CV2183942single nucleotide variantNM_002444.3(MSN):c.68A>G (p.Asn23Ser)not provided [RCV003048885]uncertain significanceX6571687365716873Humanname
156289187CV2299312single nucleotide variantNM_002444.3(MSN):c.58A>G (p.Ile20Val)Inborn genetic diseases [RCV002878739]uncertain significanceX6571686365716863Human1name
402513574CV2855426single nucleotide variantNM_002444.3(MSN):c.846C>T (p.Ala282=)not provided [RCV003547219]likely benignX6573531765735317Humanname
402516132CV2856735single nucleotide variantNM_002444.3(MSN):c.846C>G (p.Ala282=)not provided [RCV003575502]likely benignX6573531765735317Humanname
405085856CV2862154single nucleotide variantNM_002444.3(MSN):c.975T>C (p.Asn325=)not provided [RCV003549560]likely benignX6573681065736810Humanname
405196692CV2879379single nucleotide variantNM_002444.3(MSN):c.588A>G (p.Gln196=)not provided [RCV003550912]likely benignX6573187465731874Humanname
402470845CV2904315single nucleotide variantNM_002444.3(MSN):c.318G>C (p.Val106=)not provided [RCV003570449]likely benignX6572956365729563Humanname
405113333CV2939028single nucleotide variantNM_002444.3(MSN):c.894T>C (p.Asp298=)not provided [RCV003666519]likely benignX6573536565735365Humanname
405119582CV3030691single nucleotide variantNM_002444.3(MSN):c.783C>T (p.Asp261=)not provided [RCV003700613]likely benignX6573326865733268Humanname
405193551CV3066313single nucleotide variantNM_002444.3(MSN):c.333C>G (p.Leu111=)not provided [RCV003729952]likely benignX6572957865729578Humanname
405162852CV3125148single nucleotide variantNM_002444.3(MSN):c.834G>A (p.Lys278=)not provided [RCV003818420]benignX6573530565735305Humanname
405101440CV3148115single nucleotide variantNM_002444.3(MSN):c.897C>T (p.Thr299=)not provided [RCV003852745]likely benignX6573536865735368Humanname
405252256CV3177869single nucleotide variantNM_002444.3(MSN):c.462G>A (p.Pro154=)not provided [RCV003870649]likely benignX6572970765729707Humanname
597961502CV3753261single nucleotide variantNM_002444.3(MSN):c.333C>T (p.Leu111=)not provided [RCV005081761]likely benignX6572957865729578Humanname
597912572CV3778613single nucleotide variantNM_002444.3(MSN):c.705T>C (p.Thr235=)not provided [RCV005128958]likely benignX6573319065733190Humanname
597972774CV3790698single nucleotide variantNM_002444.3(MSN):c.537C>T (p.His179=)not provided [RCV005142913]likely benignX6573117665731176Humanname
597964952CV3830650single nucleotide variantNM_002444.3(MSN):c.969G>A (p.Leu323=)not provided [RCV005164790]likely benignX6573680465736804Humanname
597913111CV3834184single nucleotide variantNM_002444.3(MSN):c.870A>G (p.Leu290=)not provided [RCV005182946]likely benignX6573534165735341Humanname
597949619CV3852991single nucleotide variantNM_002444.3(MSN):c.489C>G (p.Leu163=)not provided [RCV005189872]likely benignX6573112865731128Humanname
14730466CV650143single nucleotide variantNM_002444.3(MSN):c.50A>C (p.Glu17Ala)not provided [RCV000800965]uncertain significanceX6571685565716855Humanname
127317255CV1159769single nucleotide variantNM_002444.3(MSN):c.1146C>G (p.Ala382=)not provided [RCV001520985]benignX6573723365737233Humanname
127304522CV1159770single nucleotide variantNM_002444.3(MSN):c.1203G>A (p.Glu401=)not provided [RCV001515916]benignX6573729065737290Humanname
127321346CV1159773single nucleotide variantNM_002444.3(MSN):c.1581G>A (p.Ser527=)not provided [RCV001523033]benignX6573974065739740Humanname
152126041CV1532430single nucleotide variantNM_002444.3(MSN):c.1674C>T (p.Thr558=)not provided [RCV002118465]likely benignX6573983365739833Humanname
152036343CV1545988single nucleotide variantNM_002444.3(MSN):c.1671G>A (p.Lys557=)not provided [RCV002165004]benignX6573983065739830Humanname
152168669CV1548112single nucleotide variantNM_002444.3(MSN):c.1716C>T (p.Asp572=)not provided [RCV002161196]likely benignX6573987565739875Humanname
152123513CV1563761single nucleotide variantNM_002444.3(MSN):c.1095G>A (p.Leu365=)not provided [RCV002175895]likely benignX6573718265737182Humanname
152149680CV1616877single nucleotide variantNM_002444.3(MSN):c.1539G>A (p.Glu513=)not provided [RCV002201775]likely benignX6573916465739164Humanname
152090483CV1624460single nucleotide variantNM_002444.3(MSN):c.1617T>C (p.Thr539=)not provided [RCV002150527]benignX6573977665739776Humanname
152100777CV1645660single nucleotide variantNM_002444.3(MSN):c.1680C>T (p.Arg560=)not provided [RCV002173070]likely benignX6573983965739839Humanname
152033596CV1669009single nucleotide variantNM_002444.3(MSN):c.254A>G (p.Tyr85Cys)Inborn genetic diseases [RCV004958484]|not provided [RCV002223352]uncertain significanceX6572949965729499Human1name
155705765CV1775084single nucleotide variantNM_002444.3(MSN):c.109A>G (p.Ile37Val)not provided [RCV002300239]uncertain significanceX6572782665727826Humanname
156446415CV1937888single nucleotide variantNM_002444.3(MSN):c.241C>T (p.Arg81Cys)not provided [RCV003117919]benignX6572948665729486Humanname
156069224CV1971718single nucleotide variantNM_002444.3(MSN):c.1257G>A (p.Leu419=)not provided [RCV002591222]likely benignX6573853065738530Humanname
156126311CV2012424single nucleotide variantNM_002444.3(MSN):c.1119G>A (p.Leu373=)not provided [RCV002696234]likely benignX6573720665737206Humanname
155936062CV2074842single nucleotide variantNM_002444.3(MSN):c.1587G>A (p.Leu529=)not provided [RCV002861444]likely benignX6573974665739746Humanname
156124623CV2088274single nucleotide variantNM_002444.3(MSN):c.1224G>A (p.Arg408=)not provided [RCV002871400]likely benignX6573731165737311Humanname
156167751CV2279869single nucleotide variantNM_002444.3(MSN):c.122A>G (p.Glu41Gly)Inborn genetic diseases [RCV002872925]uncertain significanceX6572783965727839Human1name
401875002CV2781392single nucleotide variantNM_002444.3(MSN):c.271G>A (p.Glu91Lys)Inborn genetic diseases [RCV003362505]uncertain significanceX6572951665729516Human1name
405086474CV2862220single nucleotide variantNM_002444.3(MSN):c.1626C>T (p.Asp542=)not provided [RCV003549600]benignX6573978565739785Humanname
402502078CV2869262single nucleotide variantNM_002444.3(MSN):c.1254C>T (p.Ala418=)not provided [RCV003546013]likely benignX6573852765738527Humanname
405146423CV2885317single nucleotide variantNM_002444.3(MSN):c.242G>A (p.Arg81His)Inborn genetic diseases [RCV004369177]|not provided [RCV003561374]likely benign|uncertain significanceX6572948765729487Human1name
405138674CV2903560single nucleotide variantNM_002444.3(MSN):c.116T>A (p.Leu39Ter)not provided [RCV003560666]uncertain significanceX6572783365727833Humanname
405133134CV2959201single nucleotide variantNM_002444.3(MSN):c.1062C>T (p.Ile354=)not provided [RCV003668486]likely benignX6573689765736897Humanname
405156556CV2960786single nucleotide variantNM_002444.3(MSN):c.1479C>T (p.Asp493=)not provided [RCV003670362]likely benignX6573910465739104Humanname
405136942CV2963186single nucleotide variantNM_002444.3(MSN):c.1191A>G (p.Glu397=)not provided [RCV003668869]likely benignX6573727865737278Humanname
405059195CV3019882single nucleotide variantNM_002444.3(MSN):c.1245A>G (p.Glu415=)not provided [RCV003697559]likely benignX6573733265737332Humanname
405188567CV3156539single nucleotide variantNM_002444.3(MSN):c.1545T>C (p.Asn515=)not provided [RCV003859417]likely benignX6573917065739170Humanname
402469330CV3174726single nucleotide variantNM_002444.3(MSN):c.208G>T (p.Val70Leu)not provided [RCV003873836]benignX6572945365729453Humanname
405763314CV3365141single nucleotide variantNM_002444.3(MSN):c.144G>C (p.Gln48His)Inborn genetic diseases [RCV004500987]uncertain significanceX6572786165727861Human1name
407459647CV3496857single nucleotide variantNM_002444.3(MSN):c.139C>A (p.Leu47Met)Autism [RCV004698672]uncertain significanceX6572785665727856Human2name
597855404CV3747732single nucleotide variantNM_002444.3(MSN):c.1416G>A (p.Val472=)not provided [RCV005066743]benignX6573904165739041Humanname
597925630CV3783193single nucleotide variantNM_002444.3(MSN):c.236A>G (p.Lys79Arg)not provided [RCV005115879]uncertain significanceX6572948165729481Humanname
597879565CV3826267single nucleotide variantNM_002444.3(MSN):c.212G>A (p.Arg71Gln)not provided [RCV005177963]uncertain significanceX6572945765729457Humanname
598214405CV3989743single nucleotide variantNM_002444.3(MSN):c.205G>A (p.Asp69Asn)Inborn genetic diseases [RCV005378560]uncertain significanceX6572945065729450Human1name
15133869CV743438single nucleotide variantNM_002444.3(MSN):c.1113G>A (p.Arg371=)not provided [RCV000898197]benignX6573720065737200Humanname
15166201CV758613single nucleotide variantNM_002444.3(MSN):c.1407A>G (p.Thr469=)not provided [RCV000926811]benignX6573903265739032Humanname
151727804CV1242012deletionNM_002444.3(MSN):c.1056del (p.Lys352fs)Combined immunodeficiency due to moesin deficiency [RCV001844378]pathogenicX6573689165736891Human1name
151790606CV1389141single nucleotide variantNM_002444.3(MSN):c.457C>T (p.Leu153Phe)not provided [RCV002010664]uncertain significanceX6572970265729702Humanname
151875952CV1406071single nucleotide variantNM_002444.3(MSN):c.880C>T (p.Arg294Cys)not provided [RCV001981903]uncertain significanceX6573535165735351Humanname
151771518CV1417686single nucleotide variantNM_002444.3(MSN):c.326G>A (p.Gly109Asp)not provided [RCV001874496]uncertain significanceX6572957165729571Humanname
151769520CV1441963deletionNM_002444.3(MSN):c.1114del (p.Ala372fs)not provided [RCV002025217]pathogenic|uncertain significanceX6573719965737199Humanname
152071495CV1544320single nucleotide variantNM_002444.3(MSN):c.802G>A (p.Val268Ile)not provided [RCV002129673]benignX6573527365735273Humanname
152049271CV1627688single nucleotide variantNM_002444.3(MSN):c.445G>A (p.Gly149Arg)Inborn genetic diseases [RCV005375054]|not provided [RCV002108739]likely benign|uncertain significanceX6572969065729690Human1name
155714288CV1760335single nucleotide variantNM_002444.3(MSN):c.679A>T (p.Ile227Phe)not provided [RCV002300841]uncertain significanceX6573196565731965Humanname
155731105CV1776296single nucleotide variantNM_002444.3(MSN):c.954G>A (p.Met318Ile)not provided [RCV002301698]uncertain significanceX6573542565735425Humanname
156418807CV1918791single nucleotide variantNM_002444.3(MSN):c.989G>A (p.Arg330His)not provided [RCV002612016]uncertain significanceX6573682465736824Humanname
156442185CV1938097single nucleotide variantNM_002444.3(MSN):c.299G>A (p.Arg100His)not provided [RCV003112524]benignX6572954465729544Humanname
156105662CV1953601single nucleotide variantNM_002444.3(MSN):c.413A>G (p.Asn138Ser)not provided [RCV002571010]benignX6572965865729658Humanname
156211352CV1983402single nucleotide variantNM_002444.3(MSN):c.406G>A (p.Asp136Asn)not provided [RCV002626090]likely benignX6572965165729651Humanname
156398017CV2009247single nucleotide variantNM_002444.3(MSN):c.942C>A (p.His314Gln)not provided [RCV002725758]uncertain significanceX6573541365735413Humanname
156233796CV2093946single nucleotide variantNM_002444.3(MSN):c.586C>T (p.Gln196Ter)not provided [RCV002894654]pathogenic|uncertain significanceX6573187265731872Humanname
156042717CV2117968single nucleotide variantNM_002444.3(MSN):c.704C>G (p.Thr235Ser)not provided [RCV002923977]uncertain significanceX6573318965733189Humanname
156014943CV2120478single nucleotide variantNM_002444.3(MSN):c.486A>T (p.Lys162Asn)not provided [RCV002975849]uncertain significanceX6573112565731125Humanname
156365214CV2130570single nucleotide variantNM_002444.3(MSN):c.562G>A (p.Val188Ile)not provided [RCV002967253]uncertain significanceX6573184865731848Humanname
156110036CV2177295single nucleotide variantNM_002444.3(MSN):c.755A>G (p.Asp252Gly)not provided [RCV003055055]uncertain significanceX6573324065733240Humanname
156361514CV2180405single nucleotide variantNM_002444.3(MSN):c.461C>T (p.Pro154Leu)not provided [RCV003049054]uncertain significanceX6572970665729706Humanname
156130050CV2238586single nucleotide variantNM_002444.3(MSN):c.388G>A (p.Val130Ile)Inborn genetic diseases [RCV002762876]uncertain significanceX6572963365729633Human1name
156172986CV2326816single nucleotide variantNM_002444.3(MSN):c.884G>A (p.Arg295His)Inborn genetic diseases [RCV002929943]|not provided [RCV005099863]uncertain significanceX6573535565735355Human1name
401860259CV2752108single nucleotide variantNM_002444.3(MSN):c.877C>T (p.Arg293Cys)Combined immunodeficiency due to moesin deficiency [RCV003335985]|not provided [RCV003661046]uncertain significanceX6573534865735348Human1name
401927205CV2829155single nucleotide variantNM_002444.3(MSN):c.922C>G (p.Gln308Glu)not provided [RCV003438435]uncertain significanceX6573539365735393Humanname
405198693CV2876819single nucleotide variantNM_002444.3(MSN):c.443C>T (p.Ala148Val)not provided [RCV003551162]likely benignX6572968865729688Humanname
405128005CV2893195single nucleotide variantNM_002444.3(MSN):c.504G>A (p.Trp168Ter)not provided [RCV003559763]pathogenic|uncertain significanceX6573114365731143Humanname
402480448CV2910946single nucleotide variantNM_002444.3(MSN):c.495G>C (p.Lys165Asn)not provided [RCV003572020]uncertain significanceX6573113465731134Humanname
405186049CV2921376single nucleotide variantNM_002444.3(MSN):c.481C>T (p.His161Tyr)not provided [RCV003564464]uncertain significanceX6573112065731120Humanname
405152307CV2959835single nucleotide variantNM_002444.3(MSN):c.430T>A (p.Ser144Thr)not provided [RCV003674042]uncertain significanceX6572967565729675Humanname
405124000CV2961573single nucleotide variantNM_002444.3(MSN):c.689A>G (p.Gln230Arg)not provided [RCV003667741]uncertain significanceX6573197565731975Humanname
405239163CV2997009single nucleotide variantNM_002444.3(MSN):c.624C>G (p.Ile208Met)not provided [RCV003718803]uncertain significanceX6573191065731910Humanname
405079064CV3004402single nucleotide variantNM_002444.3(MSN):c.874A>T (p.Met292Leu)not provided [RCV003716915]uncertain significanceX6573534565735345Humanname
405225222CV3035970single nucleotide variantNM_002444.3(MSN):c.453G>C (p.Lys151Asn)not provided [RCV003710453]uncertain significanceX6572969865729698Humanname
405120011CV3131392single nucleotide variantNM_002444.3(MSN):c.539G>A (p.Arg180His)not provided [RCV003837256]uncertain significanceX6573117865731178Humanname
408383957CV3505919single nucleotide variantNM_002444.3(MSN):c.385G>T (p.Ala129Ser)MSN-related disorder [RCV004731339]uncertain significanceX6572963065729630Humanname , trait , alternate_id
597663672CV3554645single nucleotide variantNM_002444.3(MSN):c.964A>G (p.Met322Val)Inborn genetic diseases [RCV004947174]uncertain significanceX6573679965736799Human1name
12741477CV359059single nucleotide variantNM_002444.3(MSN):c.511C>T (p.Arg171Trp)Combined immunodeficiency due to moesin deficiency [RCV000412603]|not provided [RCV001092797]pathogenicX6573115065731150Human1name
597879901CV3744732single nucleotide variantNM_002444.3(MSN):c.845C>T (p.Ala282Val)not provided [RCV005069757]uncertain significanceX6573531665735316Humanname
597836203CV3757644single nucleotide variantNM_002444.3(MSN):c.430T>C (p.Ser144Pro)not provided [RCV005085658]uncertain significanceX6572967565729675Humanname
597920413CV3765116duplicationNM_002444.3(MSN):c.1471dup (p.Ser491fs)not provided [RCV005115133]pathogenicX6573909565739096Humanname
597973595CV3801471single nucleotide variantNM_002444.3(MSN):c.886A>C (p.Lys296Gln)not provided [RCV005143460]uncertain significanceX6573535765735357Humanname
597936449CV3807646single nucleotide variantNM_002444.3(MSN):c.814C>T (p.Pro272Ser)not provided [RCV005158025]uncertain significanceX6573528565735285Humanname
598214402CV3989740single nucleotide variantNM_002444.3(MSN):c.853A>G (p.Met285Val)Inborn genetic diseases [RCV005378559]uncertain significanceX6573532465735324Human1name
598180342CV3989742single nucleotide variantNM_002444.3(MSN):c.958C>T (p.Arg320Cys)Inborn genetic diseases [RCV005372104]uncertain significanceX6573542965735429Human1name
40815382CV971225single nucleotide variantNM_002444.3(MSN):c.817C>T (p.Arg273Trp)Combined immunodeficiency due to moesin deficiency [RCV001262725]uncertain significanceX6573528865735288Human1name
150545791CV1297600single nucleotide variantNM_002444.3(MSN):c.1331A>G (p.Glu444Gly)not provided [RCV001763188]uncertain significanceX6573860465738604Humanname
150554039CV1298452single nucleotide variantNM_002444.3(MSN):c.1030A>T (p.Lys344Ter)not provided [RCV001770651]uncertain significanceX6573686565736865Humanname
151826164CV1392227single nucleotide variantNM_002444.3(MSN):c.1678C>T (p.Arg560Cys)not provided [RCV001879675]uncertain significanceX6573983765739837Humanname
151825463CV1393731single nucleotide variantNM_002444.3(MSN):c.1193A>G (p.Glu398Gly)not provided [RCV002030298]uncertain significanceX6573728065737280Humanname
151720895CV1420930single nucleotide variantNM_002444.3(MSN):c.1339C>A (p.Gln447Lys)not provided [RCV002040063]uncertain significanceX6573861265738612Humanname
151795558CV1449020single nucleotide variantNM_002444.3(MSN):c.1301C>T (p.Ala434Val)not provided [RCV001990473]uncertain significanceX6573857465738574Humanname
151769096CV1450912single nucleotide variantNM_002444.3(MSN):c.1304G>C (p.Arg435Pro)not provided [RCV001929342]uncertain significanceX6573857765738577Humanname
151877480CV1460196single nucleotide variantNM_002444.3(MSN):c.1142G>A (p.Arg381His)not provided [RCV002036434]uncertain significanceX6573722965737229Humanname
151779602CV1472421single nucleotide variantNM_002444.3(MSN):c.1304G>A (p.Arg435Gln)not provided [RCV002026133]uncertain significanceX6573857765738577Humanname
151835764CV1472724single nucleotide variantNM_002444.3(MSN):c.1636G>T (p.Ala546Ser)not provided [RCV002051185]uncertain significanceX6573979565739795Humanname
152095341CV1561931single nucleotide variantNM_002444.3(MSN):c.1108C>T (p.Arg370Cys)not provided [RCV002194843]likely benignX6573719565737195Humanname
152090425CV1624417single nucleotide variantNM_002444.3(MSN):c.1222C>T (p.Arg408Trp)not provided [RCV002150520]|not specified [RCV002271723]likely benign|uncertain significanceX6573730965737309Humanname
155676922CV1771811single nucleotide variantNM_002444.3(MSN):c.1349A>G (p.Gln450Arg)not provided [RCV002297835]uncertain significanceX6573897465738974Humanname
156413168CV1887716single nucleotide variantNM_002444.3(MSN):c.1135C>T (p.Arg379Trp)not provided [RCV003073185]benignX6573722265737222Humanname
156361450CV1900558single nucleotide variantNM_002444.3(MSN):c.1063G>A (p.Glu355Lys)not provided [RCV002581754]likely benignX6573689865736898Humanname
156443841CV1941111single nucleotide variantNM_002444.3(MSN):c.1038G>C (p.Glu346Asp)not provided [RCV003114750]uncertain significanceX6573687365736873Humanname
156406084CV2004593single nucleotide variantNM_002444.3(MSN):c.1378C>T (p.Arg460Cys)not provided [RCV002658467]uncertain significanceX6573900365739003Humanname
156190561CV2066363single nucleotide variantNM_002444.3(MSN):c.1619C>T (p.Ala540Val)not provided [RCV002828595]uncertain significanceX6573977865739778Humanname
155926037CV2070829single nucleotide variantNM_002444.3(MSN):c.1577C>T (p.Thr526Ile)not provided [RCV002838533]uncertain significanceX6573973665739736Humanname
156034978CV2112740single nucleotide variantNM_002444.3(MSN):c.1280G>A (p.Arg427Gln)not provided [RCV002910229]benignX6573855365738553Humanname
156332813CV2112838single nucleotide variantNM_002444.3(MSN):c.1106C>G (p.Thr369Ser)Inborn genetic diseases [RCV005375203]|MSN-related disorder [RCV004756440]|not provided [RCV002938463]uncertain significanceX6573719365737193Human2name , trait , alternate_id
156333938CV2112947single nucleotide variantNM_002444.3(MSN):c.1539G>T (p.Glu513Asp)not provided [RCV002938521]uncertain significanceX6573916465739164Humanname
156030243CV2117323single nucleotide variantNM_002444.3(MSN):c.1112G>A (p.Arg371Lys)not provided [RCV002923482]uncertain significanceX6573719965737199Humanname
156247337CV2168710single nucleotide variantNM_002444.3(MSN):c.1303C>T (p.Arg435Ter)not provided [RCV003026220]pathogenic|uncertain significanceX6573857665738576Humanname
155918125CV2236744single nucleotide variantNM_002444.3(MSN):c.1570G>A (p.Ala524Thr)Inborn genetic diseases [RCV002772598]|not provided [RCV005059263]benign|uncertain significanceX6573972965739729Human1name
156021014CV2264417single nucleotide variantNM_002444.3(MSN):c.1351A>G (p.Met451Val)Inborn genetic diseases [RCV002844609]uncertain significanceX6573897665738976Human1name
243056394CV2410370single nucleotide variantNM_002444.3(MSN):c.1099G>A (p.Glu367Lys)Combined immunodeficiency due to moesin deficiency [RCV003132688]|MSN-related disorder [RCV003420569]uncertain significanceX6573718665737186Human1name , trait , alternate_id
401764022CV2700347single nucleotide variantNM_002444.3(MSN):c.1508G>A (p.Arg503His)Inborn genetic diseases [RCV003281716]uncertain significanceX6573913365739133Human1name
401728930CV2729910single nucleotide variantNM_002444.3(MSN):c.1552G>C (p.Val518Leu)Inborn genetic diseases [RCV003288760]|not provided [RCV003738428]benign|uncertain significanceX6573917765739177Human1name
401913180CV2830242single nucleotide variantNM_002444.3(MSN):c.1439A>C (p.Gln480Pro)not provided [RCV003441457]uncertain significanceX6573906465739064Humanname
405866940CV2842456single nucleotide variantNM_002444.3(MSN):c.1603G>T (p.Glu535Ter)EBV-positive nodal T- and NK-cell lymphoma [RCV004557813]likely benignX6573976265739762Humanname
402518198CV2856994single nucleotide variantNM_002444.3(MSN):c.1229A>C (p.Gln410Pro)not provided [RCV003575650]uncertain significanceX6573731665737316Humanname
405166932CV2857652single nucleotide variantNM_002444.3(MSN):c.1090G>A (p.Glu364Lys)not provided [RCV003541862]uncertain significanceX6573692565736925Humanname
405074071CV2940612single nucleotide variantNM_002444.3(MSN):c.1262T>C (p.Met421Thr)not provided [RCV003659594]uncertain significanceX6573853565738535Humanname
405081661CV2941886single nucleotide variantNM_002444.3(MSN):c.1340A>G (p.Gln447Arg)not provided [RCV003664662]uncertain significanceX6573861365738613Humanname
405216402CV2978049single nucleotide variantNM_002444.3(MSN):c.1064A>G (p.Glu355Gly)not provided [RCV003709376]uncertain significanceX6573689965736899Humanname
405254885CV2982307single nucleotide variantNM_002444.3(MSN):c.1507C>T (p.Arg503Cys)not provided [RCV003723214]uncertain significanceX6573913265739132Humanname
405235284CV3040845single nucleotide variantNM_002444.3(MSN):c.1592A>G (p.Asn531Ser)not provided [RCV003712238]uncertain significanceX6573975165739751Humanname
405204837CV3068024single nucleotide variantNM_002444.3(MSN):c.1181A>G (p.Gln394Arg)not provided [RCV003731201]benignX6573726865737268Humanname
405210872CV3117728single nucleotide variantNM_002444.3(MSN):c.1311G>T (p.Lys437Asn)not provided [RCV003823327]uncertain significanceX6573858465738584Humanname
405197753CV3132084single nucleotide variantNM_002444.3(MSN):c.1592A>T (p.Asn531Ile)not provided [RCV003821677]uncertain significanceX6573975165739751Humanname
405108329CV3136600single nucleotide variantNM_002444.3(MSN):c.1039C>G (p.Leu347Val)not provided [RCV003835754]uncertain significanceX6573687465736874Humanname
405101452CV3148127single nucleotide variantNM_002444.3(MSN):c.1223G>A (p.Arg408Gln)not provided [RCV003852757]uncertain significanceX6573731065737310Humanname
405763234CV3365128single nucleotide variantNM_002444.3(MSN):c.1168G>T (p.Ala390Ser)Inborn genetic diseases [RCV004500974]uncertain significanceX6573725565737255Human1name
407475728CV3447283single nucleotide variantNM_002444.3(MSN):c.1178G>A (p.Arg393His)Inborn genetic diseases [RCV004638418]uncertain significanceX6573726565737265Human1name
407506982CV3447284single nucleotide variantNM_002444.3(MSN):c.1645A>G (p.Met549Val)Inborn genetic diseases [RCV004646633]uncertain significanceX6573980465739804Human1name
597701014CV3554644single nucleotide variantNM_002444.3(MSN):c.1019T>C (p.Ile340Thr)Inborn genetic diseases [RCV004956633]|not provided [RCV005061482]uncertain significanceX6573685465736854Human1name
12741474CV359060single nucleotide variantNM_002444.3(MSN):c.1657C>T (p.Arg553Ter)Combined immunodeficiency due to moesin deficiency [RCV000412497]pathogenicX6573981665739816Human1name
597852464CV3743399single nucleotide variantNM_002444.3(MSN):c.1484G>A (p.Arg495Gln)not provided [RCV005060749]uncertain significanceX6573910965739109Humanname
597972847CV3790753single nucleotide variantNM_002444.3(MSN):c.1522C>T (p.Arg508Cys)not provided [RCV005142968]uncertain significanceX6573914765739147Humanname
597969667CV3791640single nucleotide variantNM_002444.3(MSN):c.1325C>T (p.Ala442Val)not provided [RCV005141457]uncertain significanceX6573859865738598Humanname
597904030CV3856291single nucleotide variantNM_002444.3(MSN):c.1580C>T (p.Ser527Leu)not provided [RCV005202519]uncertain significanceX6573973965739739Humanname
598214399CV3989739single nucleotide variantNM_002444.3(MSN):c.1082C>T (p.Ala361Val)Inborn genetic diseases [RCV005378558]uncertain significanceX6573691765736917Human1name
14699488CV624724single nucleotide variantNM_002444.3(MSN):c.1580C>A (p.Ser527Ter)not provided [RCV000788875]likely pathogenicX6573973965739739Humanname
21073735CV792487single nucleotide variantNM_002444.3(MSN):c.1601A>C (p.Asp534Ala)Combined immunodeficiency due to moesin deficiency [RCV000990848]likely pathogenicX6573976065739760Human1name
402468033CV2921129duplicationNM_002444.3(MSN):c.585_586dup (p.Gln196fs)not provided [RCV003569809]pathogenic|uncertain significanceX6573186965731870Humanname
156118257CV2086700duplicationNM_002444.3(MSN):c.1174_1183dup (p.Glu395fs)not provided [RCV002871160]pathogenic|uncertain significanceX6573725665737257Humanname
407504986CV3495984deletionNM_002444.3(MSN):c.1638_1648del (p.Glu547fs)not provided [RCV004697824]likely pathogenicX6573979265739802Humanname
405207012CV3064451microsatelliteNM_002444.3(MSN):c.1438CAGGATGAG[1] (p.480QDE[1])not provided [RCV003731439]uncertain significanceX6573905865739066Humanname
405219118CV2903845deletionNM_002444.3(MSN):c.1177_1203del (p.Arg393_Glu401del)not provided [RCV003568142]uncertain significanceX6573725465737280Humanname