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More than 1000 records found for search term Men1 (Displaying 1000)
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8565769CV31739single nucleotide variantMEN1, IVS4, G-A, -9Multiple endocrine neoplasia, type 1 [RCV000018180]pathogenicHumanname
8565751CV31718deletionMEN1, 1-BP DEL, 416CMultiple endocrine neoplasia, type 1 [RCV000018159]pathogenicHumanname
8565750CV31717deletionMEN1, 4-BP DEL, NT357Multiple endocrine neoplasia, type 1 [RCV000018158]pathogenicHumanname
8565753CV31722deletionMEN1, 4-BP DEL, NT735Multiple endocrine neoplasia, type 1 [RCV000018163]pathogenicHumanname
8565775CV31745insertionMEN1, 6-BP INS, NT879Multiple endocrine neoplasia, type 1 [RCV000018186]pathogenicHumanname
8565778CV31748insertionMEN1, 1-BP INS, 1657CMultiple endocrine neoplasia, type 1 [RCV000018189]pathogenicHumanname
8565752CV31719deletionMEN1, 3-BP DEL, LYS119DELMultiple endocrine neoplasia, type 1 [RCV000018160]pathogenicHumanname
150504958CV1255348single nucleotide variantNM_130803.3(MEN1):c.-43C>Tnot provided [RCV001677795]benign116481083364810833Humanname
11604939CV321251single nucleotide variantNM_000244.4(MEN1):c.-35A>THyperparathyroidism [RCV000314220]|Multiple endocrine neoplasia, type 1 [RCV000368660]|not provided [RCV004718470]|not specified [RCV000417914]benign|likely benign116481064164810641Human3name
11614079CV328456single nucleotide variantNM_000244.4(MEN1):c.-35A>CHyperparathyroidism [RCV000274018]|Multiple endocrine neoplasia, type 1 [RCV000310348]|not provided [RCV004718471]|not specified [RCV000426448]benign|likely benign116481064164810641Human3name
11646393CV328457single nucleotide variantNM_130799.2(MEN1):c.-94G>AHyperparathyroidism [RCV000270673]|Multiple endocrine neoplasia, type 1 [RCV000364998]uncertain significance116481070064810700Human3name
12836239CV374179single nucleotide variantNM_000244.4(MEN1):c.-40G>Cnot specified [RCV000423050]likely benign116481064664810646Humanname
13539875CV503909single nucleotide variantNM_000244.4(MEN1):c.-32G>Cnot specified [RCV000613876]likely benign116481063864810638Humanname
21072033CV791152single nucleotide variantNM_000244.4(MEN1):c.-47A>GMultiple endocrine neoplasia, type 1 [RCV000988576]likely benign116481065364810653Human1name
150411376CV1177469single nucleotide variantNM_130803.3(MEN1):c.-311A>Tnot provided [RCV001547129]likely benign116481110164811101Humanname
150426230CV1184545single nucleotide variantNM_130802.2(MEN1):c.-489G>Anot provided [RCV001559089]likely benign116481073364810733Humanname
150467372CV1269219single nucleotide variantNM_130803.3(MEN1):c.-358T>Cnot provided [RCV001694627]benign116481114864811148Humanname
11655456CV327400single nucleotide variantNM_130799.2(MEN1):c.-106T>CHyperparathyroidism [RCV000325757]|Multiple endocrine neoplasia [RCV000380254]uncertain significance116481071264810712Human3name
14738660CV665106single nucleotide variantNM_130799.2(MEN1):c.-844C>Tnot provided [RCV000839499]benign116481145064811450Humanname
14737669CV665951single nucleotide variantNM_130799.2(MEN1):c.-217T>Anot provided [RCV000839022]benign116481082364810823Humanname
126733963CV1020900single nucleotide variantNM_001370259.2(MEN1):c.-6G>AHereditary cancer-predisposing syndrome [RCV002368113]|MEN1-related disorder [RCV003938638]|Multiple endocrine neoplasia, type 1 [RCV001334472]|not provided [RCV001796447]|not specified [RCV001820028]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance116481011564810115Human3name , alternate_id
155740574CV1809475single nucleotide variantNM_001370259.2(MEN1):c.-4C>THereditary cancer-predisposing syndrome [RCV002343045]uncertain significance116481011364810113Human1name
155747753CV1849755single nucleotide variantNM_001370259.2(MEN1):c.-1C>THereditary cancer-predisposing syndrome [RCV002417133]uncertain significance116481011064810110Human1name
155799439CV1859819single nucleotide variantNM_001370259.2(MEN1):c.*3T>AMultiple endocrine neoplasia, type 1 [RCV005248806]|not specified [RCV002466063]benign|likely benign116480433164804331Human1name
10768456CV222166single nucleotide variantNM_001370259.2(MEN1):c.-2C>THereditary cancer-predisposing syndrome [RCV002433902]|Multiple endocrine neoplasia, type 1 [RCV000206434]uncertain significance116481011164810111Human2name
405703213CV3233420single nucleotide variantNM_001370259.2(MEN1):c.-9C>GMultiple endocrine neoplasia, type 1 [RCV004009876]likely benign116481011864810118Human1name
405742249CV3234118single nucleotide variantNM_001370259.2(MEN1):c.*5C>GMultiple endocrine neoplasia, type 1 [RCV004015176]likely benign116480432964804329Human1name
598121330CV3889354single nucleotide variantNM_001370259.2(MEN1):c.*6T>CMultiple endocrine neoplasia, type 1 [RCV005246463]benign116480432864804328Human1name
598121331CV3889355single nucleotide variantNM_001370259.2(MEN1):c.*8G>AMultiple endocrine neoplasia, type 1 [RCV005246464]benign116480432664804326Human1name
598121345CV3889369single nucleotide variantNM_001370259.2(MEN1):c.*1A>CMultiple endocrine neoplasia, type 1 [RCV005246478]benign116480433364804333Human1name
598121397CV3889420single nucleotide variantNM_001370259.2(MEN1):c.*9G>AMultiple endocrine neoplasia, type 1 [RCV005246529]benign116480432564804325Human1name
598121434CV3889457single nucleotide variantNM_001370259.2(MEN1):c.*9G>TMultiple endocrine neoplasia, type 1 [RCV005246566]benign116480432564804325Human1name
598121495CV3889518single nucleotide variantNM_001370259.2(MEN1):c.*2C>TMultiple endocrine neoplasia, type 1 [RCV005247620]benign116480433264804332Human1name
12901060CV408415single nucleotide variantNM_000244.4(MEN1):c.-24+3G>Anot provided [RCV000483820]uncertain significance116481062764810627Humanname
10056858CV197532single nucleotide variantNM_130799.2(MEN1):c.1186-1G>Anot provided [RCV000182418]pathogenic116480519964805199Humanname
11348266CV241204single nucleotide variantNM_001370259.2(MEN1):c.-22C>AHereditary cancer-predisposing syndrome [RCV002258863]|MEN1-related disorder [RCV003891823]|Multiple endocrine neoplasia, type 1 [RCV000225942]|not provided [RCV000679245]|not specified [RCV000454537]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance116481013164810131Human3name , alternate_id
401798136CV2741280single nucleotide variantNM_001370259.2(MEN1):c.-46T>Anot specified [RCV003322443]likely benign116481053664810536Humanname
405007677CV2853160single nucleotide variantNM_001370259.2(MEN1):c.-13A>Cnot specified [RCV003494354]likely benign116481012264810122Humanname
11652943CV314551single nucleotide variantNM_001370259.2(MEN1):c.*89G>AHyperparathyroidism [RCV000308171]|Multiple endocrine neoplasia, type 1 [RCV000365188]uncertain significance116480424564804245Human3name
405258354CV3203694single nucleotide variantNM_001370259.2(MEN1):c.-10G>AHereditary cancer-predisposing syndrome [RCV005251380]|MEN1-related disorder [RCV003941885]|Multiple endocrine neoplasia, type 1 [RCV005249668]|not specified [RCV004527016]benign|likely benign|uncertain significance116481011964810119Human3name , alternate_id
405278083CV3216438single nucleotide variantNM_001370259.2(MEN1):c.-18C>TMEN1-related disorder [RCV003954376]likely benign116481012764810127Humanname , trait , alternate_id
597684569CV3731221single nucleotide variantNM_001370259.2(MEN1):c.*10G>TMultiple endocrine neoplasia, type 1 [RCV005249754]|not provided [RCV004999053]benign|uncertain significance116480432464804324Human1name
598121371CV3889395single nucleotide variantNM_001370259.2(MEN1):c.*10G>AMultiple endocrine neoplasia, type 1 [RCV005246504]benign116480432464804324Human1name
8569641CV45179single nucleotide variantNM_001370259.2(MEN1):c.-20G>AHereditary cancer-predisposing syndrome [RCV002415435]|MEN1-related disorder [RCV003914871]|Multiple endocrine neoplasia, type 1 [RCV000030190]|not provided [RCV004704817]|not specified [RCV000480991]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance116481012964810129Human3name , alternate_id
13796446CV551887single nucleotide variantNM_001370259.2(MEN1):c.*16G>Anot provided [RCV000679243]likely benign116480431864804318Humanname
11656042CV314528single nucleotide variantNM_001370259.2(MEN1):c.*557C>AHyperparathyroidism [RCV000387413]|Multiple endocrine neoplasia [RCV000330548]uncertain significance116480377764803777Human3name
11648043CV314532single nucleotide variantNM_001370259.2(MEN1):c.*529A>GHyperparathyroidism [RCV000280003]|Multiple endocrine neoplasia [RCV000394926]uncertain significance116480380564803805Human3name
11656899CV314540single nucleotide variantNM_001370259.2(MEN1):c.*527G>THyperparathyroidism [RCV000337431]|Multiple endocrine neoplasia [RCV000394937]uncertain significance116480380764803807Human3name
11646499CV314541single nucleotide variantNM_001370259.2(MEN1):c.*392G>AHyperparathyroidism [RCV000271312]|Multiple endocrine neoplasia, type 1 [RCV000363607]uncertain significance116480394264803942Human3name
11605223CV314543single nucleotide variantNM_001370259.2(MEN1):c.*302C>THyperparathyroidism [RCV000317316]|Multiple endocrine neoplasia, type 1 [RCV000374227]|not provided [RCV001612967]benign|likely benign116480403264804032Human3name
11601418CV314544single nucleotide variantNM_001370259.2(MEN1):c.*272T>CHyperparathyroidism [RCV000339408]|Multiple endocrine neoplasia, type 1 [RCV000282016]uncertain significance116480406264804062Human3name
11601846CV314549single nucleotide variantNM_001370259.2(MEN1):c.*185C>THyperparathyroidism [RCV000398124]|Multiple endocrine neoplasia, type 1 [RCV000285411]benign|likely benign116480414964804149Human3name
405286354CV3205313single nucleotide variantNM_001370259.2(MEN1):c.*407C>TMEN1-related disorder [RCV003959511]likely benign116480392764803927Humanname , trait , alternate_id
11650269CV321246single nucleotide variantNM_001370259.2(MEN1):c.*560G>THyperparathyroidism [RCV000292086]|Multiple endocrine neoplasia [RCV000384043]uncertain significance116480377464803774Human3name
11603697CV321250single nucleotide variantNM_001370259.2(MEN1):c.*470A>GHyperparathyroidism [RCV000302380]|Multiple endocrine neoplasia, type 1 [RCV000359433]|Somatotroph adenoma [RCV000736006]|not specified [RCV002248514]likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance116480386464803864Human4name
11619270CV327382single nucleotide variantNM_001370259.2(MEN1):c.*794G>AHyperparathyroidism [RCV000380647]|Multiple endocrine neoplasia, type 1 [RCV000323655]benign|likely benign|uncertain significance116480354064803540Human3name
11646229CV327388single nucleotide variantNM_001370259.2(MEN1):c.*570C>AHyperparathyroidism [RCV000327150]|Multiple endocrine neoplasia [RCV000269813]uncertain significance116480376464803764Human3name
11616588CV327389single nucleotide variantNM_001370259.2(MEN1):c.*533C>THyperparathyroidism [RCV000295504]|Multiple endocrine neoplasia [RCV000352663]|not provided [RCV004693048]uncertain significance116480380164803801Human3name
11614549CV327391single nucleotide variantNM_001370259.2(MEN1):c.*307T>GHyperparathyroidism [RCV000278044]|Multiple endocrine neoplasia, type 1 [RCV000389312]|not provided [RCV001582939]benign|likely benign116480402764804027Human3name
11652555CV328432single nucleotide variantNM_001370259.2(MEN1):c.*438C>THyperparathyroidism [RCV000305835]|Multiple endocrine neoplasia, type 1 [RCV000399525]uncertain significance116480389664803896Human3name
11655825CV328438single nucleotide variantNM_001370259.2(MEN1):c.*373G>CHyperparathyroidism [RCV000328807]|Multiple endocrine neoplasia, type 1 [RCV000367135]uncertain significance116480396164803961Human3name
11657621CV328445single nucleotide variantNM_001370259.2(MEN1):c.*104C>THyperparathyroidism [RCV000398139]|Multiple endocrine neoplasia, type 1 [RCV000342836]uncertain significance116480423064804230Human3name
14349764CV440017single nucleotide variantNM_001370259.2(MEN1):c.*412G>AMultiple endocrine neoplasia, type 1 [RCV005367363]|Somatotroph adenoma [RCV000736007]likely pathogenic116480392264803922Human2name
28899031CV868255single nucleotide variantNM_001370259.2(MEN1):c.*693T>CHyperparathyroidism [RCV001103229]|Multiple endocrine neoplasia, type 1 [RCV001103228]uncertain significance116480364164803641Human3name
28903466CV868256single nucleotide variantNM_001370259.2(MEN1):c.*400G>AHyperparathyroidism [RCV001105142]|Multiple endocrine neoplasia, type 1 [RCV001105141]uncertain significance116480393464803934Human3name
28903473CV868257single nucleotide variantNM_001370259.2(MEN1):c.*341C>GHyperparathyroidism [RCV001105144]|Multiple endocrine neoplasia, type 1 [RCV001105143]uncertain significance116480399364803993Human3name
28905802CV868258single nucleotide variantNM_001370259.2(MEN1):c.*245C>THyperparathyroidism [RCV001106271]|Multiple endocrine neoplasia, type 1 [RCV001106270]uncertain significance116480408964804089Human3name
28909610CV868259single nucleotide variantNM_001370259.2(MEN1):c.*126C>THyperparathyroidism [RCV001108501]|Multiple endocrine neoplasia, type 1 [RCV001108502]|not provided [RCV001615115]benign|uncertain significance116480420864804208Human3name
126728036CV1009824single nucleotide variantNM_001370259.2(MEN1):c.912+5G>CMultiple endocrine neoplasia, type 1 [RCV001312423]uncertain significance116480700664807006Human1name
8643164CV102147single nucleotide variantNM_001370259.2(MEN1):c.655-6C>THereditary cancer-predisposing syndrome [RCV002255283]|Hyperparathyroidism [RCV001105327]|MEN1-related disorder [RCV003891576]|Multiple endocrine neoplasia, type 1 [RCV001082522]|not provided [RCV000679258]|not specified [RCV001731368]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance116480768664807686Human5name , alternate_id
8643165CV102148single nucleotide variantNM_001370259.2(MEN1):c.912+1G>AHereditary cancer-predisposing syndrome [RCV000491428]|Multiple endocrine neoplasia, type 1 [RCV001382549]|not provided [RCV000082339]pathogenic116480701064807010Human2name
126753591CV1030392single nucleotide variantNM_001370259.2(MEN1):c.446-3C>THereditary cancer-predisposing syndrome [RCV004945024]|Multiple endocrine neoplasia, type 1 [RCV001338619]uncertain significance116480810264808102Human2name
126912985CV1047367single nucleotide variantNM_001370259.2(MEN1):c.655-7C>GMultiple endocrine neoplasia, type 1 [RCV001369936]uncertain significance116480768764807687Human1name
127238668CV1078489single nucleotide variantNM_001370259.2(MEN1):c.784-9G>CMultiple endocrine neoplasia, type 1 [RCV001392515]likely benign116480722864807228Human1name
127267467CV1100221single nucleotide variantNM_001370259.2(MEN1):c.784-7C>GMultiple endocrine neoplasia, type 1 [RCV001429713]likely benign116480722664807226Human1name
127264945CV1100223single nucleotide variantNM_001370259.2(MEN1):c.655-7C>TMultiple endocrine neoplasia, type 1 [RCV001439761]likely benign116480768764807687Human1name
127313412CV1121714single nucleotide variantNM_001370259.2(MEN1):c.913-7C>TMultiple endocrine neoplasia, type 1 [RCV001464676]likely benign116480637564806375Human1name
127319516CV1121716single nucleotide variantNM_001370259.2(MEN1):c.446-9C>GMultiple endocrine neoplasia, type 1 [RCV001466562]likely benign116480810864808108Human1name
127329163CV1142560single nucleotide variantNM_001370259.2(MEN1):c.445+7G>TMultiple endocrine neoplasia, type 1 [RCV001487264]likely benign116480965864809658Human1name
151802602CV1337746single nucleotide variantNM_001370259.2(MEN1):c.912+2T>GMultiple endocrine neoplasia, type 1 [RCV001926059]pathogenic116480700964807009Human1name
151720591CV1396004single nucleotide variantNM_001370259.2(MEN1):c.655-9C>AMultiple endocrine neoplasia, type 1 [RCV002037070]likely benign|uncertain significance116480768964807689Human1name
151710914CV1432044single nucleotide variantNM_001370259.2(MEN1):c.913-1G>CMultiple endocrine neoplasia, type 1 [RCV002000024]pathogenic116480636964806369Human1name
151829402CV1516625single nucleotide variantNM_001370259.2(MEN1):c.445+3T>CMultiple endocrine neoplasia, type 1 [RCV001980993]uncertain significance116480966264809662Human1name
152055164CV1545593deletionNM_001370259.2(MEN1):c.655-5delHereditary cancer-predisposing syndrome [RCV004641911]|MEN1-related disorder [RCV003893122]|Multiple endocrine neoplasia, type 1 [RCV002164791]|not provided [RCV003222384]benign|likely benign116480768564807685Human3name , alternate_id
152061892CV1559691single nucleotide variantNM_001370259.2(MEN1):c.655-5C>TMultiple endocrine neoplasia, type 1 [RCV002220890]likely benign116480768564807685Human1name
152054810CV1562050single nucleotide variantNM_001370259.2(MEN1):c.824+8G>TMultiple endocrine neoplasia, type 1 [RCV002161957]likely benign116480717164807171Human1name
152059064CV1563431single nucleotide variantNM_001370259.2(MEN1):c.784-8G>TMultiple endocrine neoplasia, type 1 [RCV002200169]likely benign116480722764807227Human1name
152054138CV1573892single nucleotide variantNM_001370259.2(MEN1):c.783+8C>AMultiple endocrine neoplasia, type 1 [RCV002155143]likely benign116480754464807544Human1name
152054543CV1579500single nucleotide variantNM_001370259.2(MEN1):c.446-7T>CMEN1-related disorder [RCV003933633]|Multiple endocrine neoplasia, type 1 [RCV002158677]likely benign116480810664808106Human2name , alternate_id
152056274CV1594233single nucleotide variantNM_001370259.2(MEN1):c.445+9C>GMultiple endocrine neoplasia, type 1 [RCV002175861]likely benign116480965664809656Human1name
152054386CV1596716single nucleotide variantNM_001370259.2(MEN1):c.825-4C>AMultiple endocrine neoplasia, type 1 [RCV002157069]likely benign116480710264807102Human1name
152061481CV1634507single nucleotide variantNM_001370259.2(MEN1):c.655-8C>TMultiple endocrine neoplasia, type 1 [RCV002218698]likely benign116480768864807688Human1name
152060842CV1648906single nucleotide variantNM_001370259.2(MEN1):c.825-9C>AMultiple endocrine neoplasia, type 1 [RCV002213968]likely benign116480710764807107Human1name
152031220CV1668255single nucleotide variantNM_001370259.2(MEN1):c.784-1G>Tnot provided [RCV002221991]not provided116480722064807220Humanname
152980118CV1678416single nucleotide variantNM_001370259.2(MEN1):c.-23-1G>Anot specified [RCV002246921]likely benign116481013364810133Humanname
155727886CV1798203single nucleotide variantNM_001370259.2(MEN1):c.445+2T>AHereditary cancer-predisposing syndrome [RCV002328354]uncertain significance116480966364809663Human1name
155727894CV1798204single nucleotide variantNM_001370259.2(MEN1):c.445+3T>AHereditary cancer-predisposing syndrome [RCV002328355]uncertain significance116480966264809662Human1name
155741516CV1816421single nucleotide variantNM_001370259.2(MEN1):c.783+3G>AHereditary cancer-predisposing syndrome [RCV002412119]|Multiple endocrine neoplasia, type 1 [RCV003099758]likely benign|conflicting interpretations of pathogenicity|uncertain significance116480754964807549Human2name
155741855CV1816485single nucleotide variantNM_001370259.2(MEN1):c.784-5C>GHereditary cancer-predisposing syndrome [RCV002412183]uncertain significance116480722464807224Human1name
156218275CV1903502single nucleotide variantNM_001370259.2(MEN1):c.655-2A>GMultiple endocrine neoplasia, type 1 [RCV003084888]pathogenic116480768264807682Human1name
10056855CV197538single nucleotide variantNM_001370259.2(MEN1):c.784-9G>AHereditary cancer-predisposing syndrome [RCV002408796]|Multiple endocrine neoplasia, type 1 [RCV000205749]|not provided [RCV000182415]pathogenic|likely pathogenic116480722864807228Human2name
10056887CV197540single nucleotide variantNM_001370259.2(MEN1):c.783+1G>THereditary cancer-predisposing syndrome [RCV002412118]pathogenic116480755164807551Human1name
10056852CV197545single nucleotide variantNM_001370259.2(MEN1):c.654+1G>THereditary cancer-predisposing syndrome [RCV002362934]|Multiple endocrine neoplasia, type 1 [RCV000709159]|not provided [RCV000182411]pathogenic116480789064807890Human2name
156272358CV2056032single nucleotide variantNM_001370259.2(MEN1):c.445+1G>TMultiple endocrine neoplasia, type 1 [RCV002806707]likely pathogenic116480966464809664Human1name
156166257CV2056620single nucleotide variantNM_001370259.2(MEN1):c.784-7C>AMultiple endocrine neoplasia, type 1 [RCV002801810]likely benign116480722664807226Human1name
156059506CV2060917deletionNM_001370259.2(MEN1):c.783+2delMultiple endocrine neoplasia, type 1 [RCV002797049]likely pathogenic116480755064807550Human1name
155980014CV2082017single nucleotide variantNM_001370259.2(MEN1):c.912+3G>TMultiple endocrine neoplasia, type 1 [RCV002863724]uncertain significance116480700864807008Human1name
155954201CV2086851single nucleotide variantNM_001370259.2(MEN1):c.784-8G>CMultiple endocrine neoplasia, type 1 [RCV002862510]likely benign116480722764807227Human1name
10767506CV222160single nucleotide variantNM_001370259.2(MEN1):c.655-6C>AHereditary cancer-predisposing syndrome [RCV002257506]|Multiple endocrine neoplasia, type 1 [RCV000988573]|not provided [RCV000657085]|not specified [RCV000454964]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance116480768664807686Human2name
11350349CV241191deletionNM_001370259.2(MEN1):c.655-4delHereditary cancer-predisposing syndrome [RCV000566396]|Multiple endocrine neoplasia, type 1 [RCV000234359]|not provided [RCV003736666]|not specified [RCV000454942]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance116480768464807684Human2name
11348572CV241192single nucleotide variantNM_001370259.2(MEN1):c.655-5C>GHereditary cancer-predisposing syndrome [RCV002365218]|Multiple endocrine neoplasia, type 1 [RCV000227150]|not provided [RCV004725119]|not specified [RCV003226264]likely benign|conflicting interpretations of pathogenicity|uncertain significance116480768564807685Human2name
11349572CV241193single nucleotide variantNM_001370259.2(MEN1):c.655-6C>GHereditary cancer-predisposing syndrome [RCV002256173]|Hyperparathyroidism [RCV001105328]|MEN1-related disorder [RCV003919981]|Multiple endocrine neoplasia, type 1 [RCV000231039]|not specified [RCV000604145]likely benign|conflicting interpretations of pathogenicity|uncertain significance116480768664807686Human5name , alternate_id
11634290CV264562single nucleotide variantNM_001370259.2(MEN1):c.446-2A>CMultiple endocrine neoplasia, type 1 [RCV003233029]|not provided [RCV000406326]pathogenic116480810164808101Human1name
401878261CV2790761single nucleotide variantNM_001370259.2(MEN1):c.783+4A>GHereditary cancer-predisposing syndrome [RCV003384129]uncertain significance116480754864807548Human1name
405040177CV2861454single nucleotide variantNM_001370259.2(MEN1):c.445+1G>AMultiple endocrine neoplasia, type 1 [RCV003517904]likely pathogenic116480966464809664Human1name
405042647CV2878185single nucleotide variantNM_001370259.2(MEN1):c.446-5C>AMultiple endocrine neoplasia, type 1 [RCV003518145]likely benign116480810464808104Human1name
405049780CV2898672single nucleotide variantNM_001370259.2(MEN1):c.446-3C>GMultiple endocrine neoplasia, type 1 [RCV003518784]pathogenic116480810264808102Human1name
405030471CV2903803single nucleotide variantNM_001370259.2(MEN1):c.783+6G>CMultiple endocrine neoplasia, type 1 [RCV003516778]uncertain significance116480754664807546Human1name
405029938CV2906628single nucleotide variantNM_001370259.2(MEN1):c.784-4C>THereditary cancer-predisposing syndrome [RCV004369330]|Multiple endocrine neoplasia, type 1 [RCV003516731]likely benign116480722364807223Human2name
405053882CV2971220single nucleotide variantNM_001370259.2(MEN1):c.446-9C>TMultiple endocrine neoplasia, type 1 [RCV003631601]likely benign116480810864808108Human1name
405055573CV2985298single nucleotide variantNM_001370259.2(MEN1):c.655-9C>TMultiple endocrine neoplasia, type 1 [RCV003631764]likely benign116480768964807689Human1name
405059859CV3006625single nucleotide variantNM_001370259.2(MEN1):c.784-2A>TMultiple endocrine neoplasia, type 1 [RCV003632115]likely pathogenic116480722164807221Human1name
402500537CV3170528single nucleotide variantNM_001370259.2(MEN1):c.824+9A>CMultiple endocrine neoplasia, type 1 [RCV003877901]likely benign116480717064807170Human1name
8565779CV31749single nucleotide variantNM_001370259.2(MEN1):c.824+1G>AHereditary cancer-predisposing syndrome [RCV002426511]|Multiple endocrine neoplasia, type 1 [RCV000018190]pathogenic116480717864807178Human2name
405712055CV3231795single nucleotide variantNM_001370259.2(MEN1):c.913-5T>CHereditary cancer-predisposing syndrome [RCV004943278]|Multiple endocrine neoplasia, type 1 [RCV004011825]likely benign|uncertain significance116480637364806373Human2name
407426051CV3413176single nucleotide variantNM_001370259.2(MEN1):c.824+2T>CMultiple endocrine neoplasia, type 1 [RCV004589352]likely pathogenic116480717764807177Human1name
407574160CV3498509single nucleotide variantNM_001370259.2(MEN1):c.912+2T>AMultiple endocrine neoplasia, type 1 [RCV004702984]likely pathogenic116480700964807009Human1name
597649963CV3556601single nucleotide variantNM_001370259.2(MEN1):c.446-4A>GHereditary cancer-predisposing syndrome [RCV004943337]likely benign116480810364808103Human1name
597650200CV3556655single nucleotide variantNM_001370259.2(MEN1):c.913-2A>CHereditary cancer-predisposing syndrome [RCV004943390]likely pathogenic116480637064806370Human1name
12738973CV358841duplicationNM_001370259.2(MEN1):c.655-5dupHereditary cancer-predisposing syndrome [RCV002256225]|Multiple endocrine neoplasia, type 1 [RCV000411902]|not provided [RCV001706621]|not specified [RCV003321585]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance116480768464807685Human2name
12742872CV360059single nucleotide variantNM_001370259.2(MEN1):c.913-1G>AHereditary cancer-predisposing syndrome [RCV001018907]|Multiple endocrine neoplasia, type 1 [RCV001851002]|not provided [RCV000414731]pathogenic|likely pathogenic116480636964806369Human2name
12741926CV360931deletionNM_001370259.2(MEN1):c.654+1delGastrointestinal stromal tumor [RCV000415413]pathogenic116480789064807890Human2name
12849455CV374177single nucleotide variantNM_001370259.2(MEN1):c.783+2T>Gnot provided [RCV000430267]likely pathogenic116480755064807550Humanname
597878035CV3776230single nucleotide variantNM_001370259.2(MEN1):c.445+7G>AMultiple endocrine neoplasia, type 1 [RCV005123758]likely benign116480965864809658Human1name
597912633CV3817309single nucleotide variantNM_001370259.2(MEN1):c.824+5G>CMultiple endocrine neoplasia, type 1 [RCV005154511]uncertain significance116480717464807174Human1name
597968692CV3821012single nucleotide variantNM_001370259.2(MEN1):c.912+7G>AMultiple endocrine neoplasia, type 1 [RCV005165853]likely benign116480700464807004Human1name
597969141CV3821398single nucleotide variantNM_001370259.2(MEN1):c.655-4T>CMultiple endocrine neoplasia, type 1 [RCV005166040]likely benign116480768464807684Human1name
598121479CV3889502single nucleotide variantNM_001370259.2(MEN1):c.654+4T>AMultiple endocrine neoplasia, type 1 [RCV005247604]likely benign116480788764807887Human1name
598121507CV3889530single nucleotide variantNM_001370259.2(MEN1):c.825-5C>TMultiple endocrine neoplasia, type 1 [RCV005247632]likely benign116480710364807103Human1name
598121521CV3889544single nucleotide variantNM_001370259.2(MEN1):c.445+8C>TMultiple endocrine neoplasia, type 1 [RCV005247646]likely benign116480965764809657Human1name
598121553CV3889576single nucleotide variantNM_001370259.2(MEN1):c.912+3G>AMultiple endocrine neoplasia, type 1 [RCV005247678]likely benign116480700864807008Human1name
598121570CV3889593single nucleotide variantNM_001370259.2(MEN1):c.784-9G>TMultiple endocrine neoplasia, type 1 [RCV005247695]likely benign116480722864807228Human1name
12886312CV398303single nucleotide variantNM_001370259.2(MEN1):c.824+1G>TMultiple endocrine neoplasia, type 1 [RCV000466988]pathogenic116480717864807178Human1name
12887380CV398305single nucleotide variantNM_001370259.2(MEN1):c.783+7G>AMultiple endocrine neoplasia, type 1 [RCV001417870]likely benign116480754564807545Human1name
12883515CV398317single nucleotide variantNM_001370259.2(MEN1):c.654+9C>TMEN1-related disorder [RCV003912815]|Multiple endocrine neoplasia, type 1 [RCV000461750]likely benign116480788264807882Human2name , alternate_id
12894933CV408407single nucleotide variantNM_001370259.2(MEN1):c.824+5G>Anot provided [RCV000484677]likely pathogenic116480717464807174Humanname
12898790CV408409single nucleotide variantNM_001370259.2(MEN1):c.654+3A>Tnot provided [RCV000478699]|not specified [RCV002271508]likely pathogenic|uncertain significance116480788864807888Humanname
12895593CV408412single nucleotide variantNM_001370259.2(MEN1):c.446-1G>AHereditary cancer-predisposing syndrome [RCV001022519]|Multiple endocrine neoplasia, type 1 [RCV001851155]|not provided [RCV000487061]pathogenic116480810064808100Human2name
12912589CV419823single nucleotide variantNM_001370259.2(MEN1):c.913-2A>GHereditary cancer-predisposing syndrome [RCV000492022]|Multiple endocrine neoplasia, type 1 [RCV000632096]pathogenic|likely pathogenic116480637064806370Human2name
12911388CV419824single nucleotide variantNM_001370259.2(MEN1):c.912+1G>CHereditary cancer-predisposing syndrome [RCV000490972]|Multiple endocrine neoplasia, type 1 [RCV000552470]pathogenic|likely pathogenic116480701064807010Human2name
12912070CV419826single nucleotide variantNM_001370259.2(MEN1):c.825-1G>AHereditary cancer-predisposing syndrome [RCV000490857]likely pathogenic116480709964807099Human1name
12911434CV419827single nucleotide variantNM_001370259.2(MEN1):c.824+1G>CHereditary cancer-predisposing syndrome [RCV000491420]likely pathogenic116480717864807178Human1name
12912373CV419829single nucleotide variantNM_001370259.2(MEN1):c.784-2A>GHereditary cancer-predisposing syndrome [RCV000491529]pathogenic116480722164807221Human1name
12911450CV419830single nucleotide variantNM_001370259.2(MEN1):c.783+1G>AHereditary cancer-predisposing syndrome [RCV000491531]|Multiple endocrine neoplasia, type 1 [RCV000697334]|not specified [RCV000506752]pathogenic|likely pathogenic116480755164807551Human2name
12911412CV419842single nucleotide variantNM_001370259.2(MEN1):c.446-2A>GHereditary cancer-predisposing syndrome [RCV000491191]|Multiple endocrine neoplasia, type 1 [RCV000696685]|not provided [RCV002475967]pathogenic|likely pathogenic116480810164808101Human2name
12911374CV419843single nucleotide variantNM_001370259.2(MEN1):c.446-3C>AHereditary cancer-predisposing syndrome [RCV000490866]|Multiple endocrine neoplasia, type 1 [RCV000531853]uncertain significance116480810264808102Human2name
13211653CV425938single nucleotide variantNM_001370259.2(MEN1):c.912+2T>Cnot provided [RCV000497734]pathogenic116480700964807009Humanname
13437006CV433092single nucleotide variantNM_001370259.2(MEN1):c.913-4C>THereditary cancer-predisposing syndrome [RCV004943938]|Multiple endocrine neoplasia, type 1 [RCV000533306]|not specified [RCV000508136]likely benign116480637264806372Human2name
13479152CV444851single nucleotide variantNM_001370259.2(MEN1):c.784-1G>CMultiple endocrine neoplasia, type 1 [RCV000794756]|not provided [RCV000520872]pathogenic|likely pathogenic116480722064807220Human1name
13473648CV461315single nucleotide variantNM_001370259.2(MEN1):c.655-7C>AMultiple endocrine neoplasia, type 1 [RCV000547893]uncertain significance116480768764807687Human1name
13476169CV461822single nucleotide variantNM_001370259.2(MEN1):c.825-8T>CMultiple endocrine neoplasia, type 1 [RCV000526614]likely benign116480710664807106Human1name
8570634CV48362single nucleotide variantNM_001370259.2(MEN1):c.654+1G>AHereditary cancer-predisposing syndrome [RCV002362604]|Multiple endocrine neoplasia, type 1 [RCV000032982]|not provided [RCV002510773]pathogenic116480789064807890Human2name
13614607CV526361single nucleotide variantNM_001370259.2(MEN1):c.654+9C>AMultiple endocrine neoplasia, type 1 [RCV000632159]likely benign116480788264807882Human1name
13614622CV526372single nucleotide variantNM_001370259.2(MEN1):c.446-9C>AMultiple endocrine neoplasia, type 1 [RCV000632170]likely benign116480810864808108Human1name
13614621CV526649single nucleotide variantNM_001370259.2(MEN1):c.654+9C>GMultiple endocrine neoplasia, type 1 [RCV000632169]likely benign116480788264807882Human1name
14736742CV652225single nucleotide variantNM_001370259.2(MEN1):c.446-1G>CMultiple endocrine neoplasia, type 1 [RCV000820156]pathogenic116480810064808100Human1name
14714596CV652340single nucleotide variantNM_001370259.2(MEN1):c.912+5G>AMultiple endocrine neoplasia, type 1 [RCV000794481]uncertain significance116480700664807006Human1name
14735141CV652591single nucleotide variantNM_001370259.2(MEN1):c.655-1G>AMultiple endocrine neoplasia, type 1 [RCV000819459]pathogenic116480768164807681Human1name
15122073CV695533single nucleotide variantNM_001370259.2(MEN1):c.913-8C>TMultiple endocrine neoplasia, type 1 [RCV001448716]benign|likely benign116480637664806376Human1name
15165657CV730787single nucleotide variantNM_001370259.2(MEN1):c.824+9A>GMultiple endocrine neoplasia, type 1 [RCV002065477]likely benign116480717064807170Human1name
21405328CV799658single nucleotide variantNM_001370259.2(MEN1):c.783+1G>CHereditary cancer-predisposing syndrome [RCV002409331]|Multiple endocrine neoplasia, type 1 [RCV001000126]pathogenic116480755164807551Human2name
25326753CV815505single nucleotide variantNM_001370259.2(MEN1):c.783+5G>AHereditary cancer-predisposing syndrome [RCV001026855]uncertain significance116480754764807547Human1name
25325153CV815506single nucleotide variantNM_001370259.2(MEN1):c.655-1G>CHereditary cancer-predisposing syndrome [RCV001025404]|Multiple endocrine neoplasia, type 1 [RCV001862323]|not provided [RCV002281151]pathogenic|likely pathogenic116480768164807681Human2name
25325159CV815507single nucleotide variantNM_001370259.2(MEN1):c.655-5C>AHereditary cancer-predisposing syndrome [RCV001025408]|Multiple endocrine neoplasia, type 1 [RCV001068075]uncertain significance116480768564807685Human2name
26902972CV851447single nucleotide variantNM_001370259.2(MEN1):c.654+4T>CMultiple endocrine neoplasia, type 1 [RCV001036068]uncertain significance116480788764807887Human1name
26915134CV851889single nucleotide variantNM_001370259.2(MEN1):c.783+5G>TMultiple endocrine neoplasia, type 1 [RCV001041154]uncertain significance116480754764807547Human1name
26916784CV851891single nucleotide variantNM_001370259.2(MEN1):c.654+5T>CHereditary cancer-predisposing syndrome [RCV002365715]|Multiple endocrine neoplasia, type 1 [RCV001056574]likely benign|uncertain significance116480788664807886Human2name
26921724CV851893single nucleotide variantNM_001370259.2(MEN1):c.654+3A>GMultiple endocrine neoplasia, type 1 [RCV001061257]likely pathogenic116480788864807888Human1name
26914474CV851895single nucleotide variantNM_001370259.2(MEN1):c.446-6C>AMultiple endocrine neoplasia, type 1 [RCV001054998]likely benign|uncertain significance116480810564808105Human1name
26886347CV852379single nucleotide variantNM_001370259.2(MEN1):c.824+3C>GMultiple endocrine neoplasia, type 1 [RCV001066013]uncertain significance116480717664807176Human1name
26884770CV852380single nucleotide variantNM_001370259.2(MEN1):c.784-1G>AMultiple endocrine neoplasia, type 1 [RCV001043139]likely pathogenic116480722064807220Human1name
26884902CV852621single nucleotide variantNM_001370259.2(MEN1):c.445+4G>AMultiple endocrine neoplasia, type 1 [RCV001043217]uncertain significance116480966164809661Human1name
38487392CV940227single nucleotide variantNM_001370259.2(MEN1):c.912+6G>TMultiple endocrine neoplasia, type 1 [RCV001209296]uncertain significance116480700564807005Human1name
38489233CV941005single nucleotide variantNM_001370259.2(MEN1):c.654+6G>TMultiple endocrine neoplasia, type 1 [RCV001221549]uncertain significance116480788564807885Human1name
38478587CV960003single nucleotide variantNM_001370259.2(MEN1):c.445+5G>AMultiple endocrine neoplasia, type 1 [RCV001233955]uncertain significance116480966064809660Human1name
41405003CV981746single nucleotide variantNM_001370259.2(MEN1):c.655-2A>Cnot provided [RCV001812328]pathogenic116480768264807682Humanname
127271305CV1062421single nucleotide variantNM_001370259.2(MEN1):c.1351-1G>TMultiple endocrine neoplasia, type 1 [RCV001390118]pathogenic116480481764804817Human1name
127237329CV1078481single nucleotide variantNM_001370259.2(MEN1):c.1351-8T>CMultiple endocrine neoplasia, type 1 [RCV001397097]likely benign116480482464804824Human1name
127256542CV1078486single nucleotide variantNM_001370259.2(MEN1):c.913-10C>TMultiple endocrine neoplasia, type 1 [RCV001419069]likely benign116480637864806378Human1name
127282901CV1078493single nucleotide variantNM_001370259.2(MEN1):c.445+10C>TMultiple endocrine neoplasia, type 1 [RCV001411450]likely benign116480965564809655Human1name
127237139CV1100219single nucleotide variantNM_001370259.2(MEN1):c.1186-7C>GMultiple endocrine neoplasia, type 1 [RCV001433482]likely benign116480520564805205Human1name
127278513CV1100224single nucleotide variantNM_001370259.2(MEN1):c.654+10C>AMultiple endocrine neoplasia, type 1 [RCV001445117]likely benign116480788164807881Human1name
127295269CV1121711single nucleotide variantNM_001370259.2(MEN1):c.1050-7C>TMultiple endocrine neoplasia, type 1 [RCV001452455]likely benign116480577764805777Human1name
127334298CV1142544single nucleotide variantNM_001370259.2(MEN1):c.1350+7G>AMultiple endocrine neoplasia, type 1 [RCV001490747]likely benign116480502764805027Human1name
127318272CV1142546single nucleotide variantNM_001370259.2(MEN1):c.1186-5T>CMultiple endocrine neoplasia, type 1 [RCV001483474]likely benign116480520364805203Human1name
127293379CV1142557single nucleotide variantNM_001370259.2(MEN1):c.783+10G>CMultiple endocrine neoplasia, type 1 [RCV001496763]likely benign116480754264807542Human1name
150333510CV1172279single nucleotide variantNM_001370259.2(MEN1):c.654+82C>Tnot provided [RCV001539533]benign116480780964807809Humanname
150536311CV1309455single nucleotide variantNM_001370259.2(MEN1):c.445+29C>Tnot provided [RCV003238519]uncertain significance116480963664809636Humanname
8689950CV139877single nucleotide variantNM_001370259.2(MEN1):c.1186-7C>TMultiple endocrine neoplasia, type 1 [RCV000123381]likely benign|uncertain significance116480520564805205Human1name
151803262CV1422519single nucleotide variantNM_001370259.2(MEN1):c.1050-3C>THereditary cancer-predisposing syndrome [RCV003167001]|Multiple endocrine neoplasia, type 1 [RCV001927281]uncertain significance116480577364805773Human2name
151825828CV1503994single nucleotide variantNM_001370259.2(MEN1):c.1185+6A>GMultiple endocrine neoplasia, type 1 [RCV001973727]uncertain significance116480562964805629Human1name
152051669CV1530908deletionNM_001370259.2(MEN1):c.913-15delMultiple endocrine neoplasia, type 1 [RCV002132976]likely benign116480638364806383Human1name
152053658CV1533782single nucleotide variantNM_001370259.2(MEN1):c.912+13A>GMultiple endocrine neoplasia, type 1 [RCV002151029]likely benign116480699864806998Human1name
152051110CV1543622single nucleotide variantNM_001370259.2(MEN1):c.655-12T>CMultiple endocrine neoplasia, type 1 [RCV002128038]likely benign116480769264807692Human1name
152054358CV1549797single nucleotide variantNM_001370259.2(MEN1):c.824+19C>GMultiple endocrine neoplasia, type 1 [RCV002156656]likely benign116480716064807160Human1name
152053448CV1558602deletionNM_001370259.2(MEN1):c.824+12delMultiple endocrine neoplasia, type 1 [RCV002149395]likely benign116480716764807167Human1name
152048010CV1560940duplicationNM_001370259.2(MEN1):c.654+18dupMultiple endocrine neoplasia, type 1 [RCV002102849]benign116480787264807873Human1name
152059084CV1563516single nucleotide variantNM_001370259.2(MEN1):c.654+11C>TMultiple endocrine neoplasia, type 1 [RCV002200254]likely benign116480788064807880Human1name
152059106CV1563629single nucleotide variantNM_001370259.2(MEN1):c.784-16C>GMultiple endocrine neoplasia, type 1 [RCV002200367]likely benign116480723564807235Human1name
152056279CV1563989single nucleotide variantNM_001370259.2(MEN1):c.912+19G>AMultiple endocrine neoplasia, type 1 [RCV002175953]likely benign116480699264806992Human1name
152061378CV1567731duplicationNM_001370259.2(MEN1):c.655-12dupMultiple endocrine neoplasia, type 1 [RCV002218015]likely benign116480769164807692Human1name
152061384CV1567986single nucleotide variantNM_001370259.2(MEN1):c.654+15C>GMultiple endocrine neoplasia, type 1 [RCV002218109]likely benign116480787664807876Human1name
152053739CV1578750single nucleotide variantNM_001370259.2(MEN1):c.913-13C>TMultiple endocrine neoplasia, type 1 [RCV002151750]likely benign116480638164806381Human1name
152060123CV1583841single nucleotide variantNM_001370259.2(MEN1):c.1049+8T>CMultiple endocrine neoplasia, type 1 [RCV002208069]likely benign116480622464806224Human1name
152046120CV1586785single nucleotide variantNM_001370259.2(MEN1):c.654+17C>GMultiple endocrine neoplasia, type 1 [RCV002085395]likely benign116480787464807874Human1name
152049287CV1589287single nucleotide variantNM_001370259.2(MEN1):c.825-11T>CMultiple endocrine neoplasia, type 1 [RCV002112704]likely benign116480710964807109Human1name
152052775CV1598913single nucleotide variantNM_001370259.2(MEN1):c.654+16C>AMultiple endocrine neoplasia, type 1 [RCV002143615]likely benign116480787564807875Human1name
152055531CV1601417single nucleotide variantNM_001370259.2(MEN1):c.654+18C>GMultiple endocrine neoplasia, type 1 [RCV002168552]likely benign116480787364807873Human1name
152047662CV1604814single nucleotide variantNM_001370259.2(MEN1):c.446-18T>CMultiple endocrine neoplasia, type 1 [RCV002099695]likely benign116480811764808117Human1name
152060683CV1608575single nucleotide variantNM_001370259.2(MEN1):c.655-11C>TMultiple endocrine neoplasia, type 1 [RCV002212281]likely benign116480769164807691Human1name
152050681CV1610397deletionNM_001370259.2(MEN1):c.654+18delMultiple endocrine neoplasia, type 1 [RCV002124958]benign116480787364807873Human1name
152051205CV1612282single nucleotide variantNM_001370259.2(MEN1):c.913-15C>TMultiple endocrine neoplasia, type 1 [RCV002128776]likely benign116480638364806383Human1name
152045696CV1613679single nucleotide variantNM_001370259.2(MEN1):c.446-12C>TMultiple endocrine neoplasia, type 1 [RCV002081844]likely benign116480811164808111Human1name
152059993CV1618203single nucleotide variantNM_001370259.2(MEN1):c.824+17G>CMultiple endocrine neoplasia, type 1 [RCV002206638]likely benign116480716264807162Human1name
152049253CV1620655single nucleotide variantNM_001370259.2(MEN1):c.446-11C>GMultiple endocrine neoplasia, type 1 [RCV002112622]likely benign116480811064808110Human1name
152051315CV1629215single nucleotide variantNM_001370259.2(MEN1):c.825-14T>CMultiple endocrine neoplasia, type 1 [RCV002130110]likely benign116480711264807112Human1name
152054453CV1631441single nucleotide variantNM_001370259.2(MEN1):c.655-11C>GMultiple endocrine neoplasia, type 1 [RCV002157457]likely benign116480769164807691Human1name
152052035CV1633330single nucleotide variantNM_001370259.2(MEN1):c.824+12G>AMultiple endocrine neoplasia, type 1 [RCV002137063]likely benign116480716764807167Human1name
152053591CV1638946single nucleotide variantNM_001370259.2(MEN1):c.913-11C>TMultiple endocrine neoplasia, type 1 [RCV002150296]likely benign116480637964806379Human1name
152055229CV1640292single nucleotide variantNM_001370259.2(MEN1):c.655-10C>TMultiple endocrine neoplasia, type 1 [RCV002165957]likely benign116480769064807690Human1name
152051803CV1651149single nucleotide variantNM_001370259.2(MEN1):c.446-10C>AMultiple endocrine neoplasia, type 1 [RCV002134478]likely benign116480810964808109Human1name
152979429CV1676231single nucleotide variantNM_001370259.2(MEN1):c.1350+1G>CMultiple endocrine neoplasia, type 1 [RCV002245308]pathogenic116480503364805033Human1name
153302514CV1689752duplicationNM_001370259.2(MEN1):c.825-35dupnot specified [RCV002268650]likely benign116480713264807133Humanname
153302515CV1689753single nucleotide variantNM_001370259.2(MEN1):c.-23-13G>Anot specified [RCV002268651]likely benign116481014564810145Humanname
155721344CV1805538single nucleotide variantNM_001370259.2(MEN1):c.1186-2A>GHereditary cancer-predisposing syndrome [RCV002338048]uncertain significance116480520064805200Human1name
155678009CV1826283single nucleotide variantNM_001370259.2(MEN1):c.1350+3G>AHereditary cancer-predisposing syndrome [RCV002387929]|Multiple endocrine neoplasia, type 1 [RCV003631259]conflicting interpretations of pathogenicity|uncertain significance116480503164805031Human2name
155720149CV1837471single nucleotide variantNM_001370259.2(MEN1):c.1049+2T>GHereditary cancer-predisposing syndrome [RCV002398758]pathogenic116480623064806230Human1name
155720169CV1837474single nucleotide variantNM_001370259.2(MEN1):c.1049+3G>AHereditary cancer-predisposing syndrome [RCV002398761]|Multiple endocrine neoplasia, type 1 [RCV005248720]likely benign|uncertain significance116480622964806229Human2name
155799442CV1859820single nucleotide variantNM_001370259.2(MEN1):c.-23-15C>Gnot specified [RCV002466064]likely benign116481014764810147Humanname
156383293CV1886550single nucleotide variantNM_001370259.2(MEN1):c.824+18G>AMultiple endocrine neoplasia, type 1 [RCV003093471]likely benign116480716164807161Human1name
156059127CV1928959single nucleotide variantNM_001370259.2(MEN1):c.912+20G>TMultiple endocrine neoplasia, type 1 [RCV002620886]likely benign116480699164806991Human1name
156408412CV1957832single nucleotide variantNM_001370259.2(MEN1):c.655-19G>AMultiple endocrine neoplasia, type 1 [RCV002586510]likely benign116480769964807699Human1name
10056859CV197527single nucleotide variantNM_001370259.2(MEN1):c.1351-1G>CMultiple endocrine neoplasia, type 1 [RCV000540660]pathogenic|likely pathogenic116480481764804817Human1name
155966074CV1978055single nucleotide variantNM_001370259.2(MEN1):c.824+16T>AMultiple endocrine neoplasia, type 1 [RCV002616961]likely benign116480716364807163Human1name
156405677CV1994522single nucleotide variantNM_001370259.2(MEN1):c.1049+6G>AMultiple endocrine neoplasia, type 1 [RCV002658366]uncertain significance116480622664806226Human1name
156296574CV2005355single nucleotide variantNM_001370259.2(MEN1):c.654+17C>AMultiple endocrine neoplasia, type 1 [RCV002670976]likely benign116480787464807874Human1name
155915298CV2063112single nucleotide variantNM_001370259.2(MEN1):c.783+16A>GMultiple endocrine neoplasia, type 1 [RCV002838016]likely benign116480753664807536Human1name
10407504CV212936single nucleotide variantNM_001370259.2(MEN1):c.1351-4C>THereditary cancer-predisposing syndrome [RCV000571993]|Hyperparathyroidism [RCV001105234]|Multiple endocrine neoplasia, type 1 [RCV001083658]|not provided [RCV000679248]|not specified [RCV002267931]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance116480482064804820Human4name
10407566CV212937single nucleotide variantNM_001370259.2(MEN1):c.1351-8T>GMultiple endocrine neoplasia, type 1 [RCV000198633]likely benign|uncertain significance116480482464804824Human1name
10407697CV212939single nucleotide variantNM_001370259.2(MEN1):c.1185+4A>GHereditary cancer-predisposing syndrome [RCV002336545]|MEN1-related disorder [RCV003407711]|Multiple endocrine neoplasia, type 1 [RCV000200321]uncertain significance116480563164805631Human3name , alternate_id
155978887CV2132630single nucleotide variantNM_001370259.2(MEN1):c.654+18C>AMultiple endocrine neoplasia, type 1 [RCV002995996]likely benign116480787364807873Human1name
156008946CV2175777single nucleotide variantNM_001370259.2(MEN1):c.784-18C>GMultiple endocrine neoplasia, type 1 [RCV003035135]likely benign116480723764807237Human1name
156142158CV2177962single nucleotide variantNM_001370259.2(MEN1):c.654+14C>TMultiple endocrine neoplasia, type 1 [RCV003040075]likely benign116480787764807877Human1name
156338442CV2179554single nucleotide variantNM_001370259.2(MEN1):c.446-17A>GMultiple endocrine neoplasia, type 1 [RCV003030151]likely benign116480811664808116Human1name
156096265CV2183572single nucleotide variantNM_001370259.2(MEN1):c.825-10C>TMultiple endocrine neoplasia, type 1 [RCV003054552]likely benign116480710864807108Human1name
156224312CV2183861single nucleotide variantNM_001370259.2(MEN1):c.913-12A>CMultiple endocrine neoplasia, type 1 [RCV003025315]likely benign116480638064806380Human1name
11346295CV241176single nucleotide variantNM_001370259.2(MEN1):c.1351-1G>AMultiple endocrine neoplasia, type 1 [RCV000227993]pathogenic|likely pathogenic116480481764804817Human1name
329848826CV2523574single nucleotide variantNM_001370259.2(MEN1):c.1050-3C>GMEN1-related disorder [RCV003395729]|Multiple endocrine neoplasia, type 1 [RCV003466041]|not provided [RCV003225588]pathogenic|uncertain significance116480577364805773Human2name , alternate_id
329954467CV2669589single nucleotide variantNM_001370259.2(MEN1):c.913-79T>APituitary adenoma 5, multiple types [RCV003233052]likely benign116480644764806447Human1name
401781033CV2734124single nucleotide variantNM_001370259.2(MEN1):c.1186-4C>THereditary cancer-predisposing syndrome [RCV003288359]|Multiple endocrine neoplasia, type 1 [RCV005102751]likely benign116480520264805202Human2name
405037300CV2858124single nucleotide variantNM_001370259.2(MEN1):c.654+15C>TMultiple endocrine neoplasia, type 1 [RCV003517592]likely benign116480787664807876Human1name
405041340CV2863332single nucleotide variantNM_001370259.2(MEN1):c.1185+7G>AMultiple endocrine neoplasia, type 1 [RCV003518047]likely benign116480562864805628Human1name
405036585CV2863509single nucleotide variantNM_001370259.2(MEN1):c.655-17T>AMultiple endocrine neoplasia, type 1 [RCV003517514]likely benign116480769764807697Human1name
405043971CV2871758single nucleotide variantNM_001370259.2(MEN1):c.654+13C>AMultiple endocrine neoplasia, type 1 [RCV003518195]likely benign116480787864807878Human1name
405048417CV2887067single nucleotide variantNM_001370259.2(MEN1):c.654+12T>AMultiple endocrine neoplasia, type 1 [RCV003518663]likely benign116480787964807879Human1name
405034433CV2918395single nucleotide variantNM_001370259.2(MEN1):c.825-13G>AMultiple endocrine neoplasia, type 1 [RCV003517109]likely benign116480711164807111Human1name
405052485CV2938376single nucleotide variantNM_001370259.2(MEN1):c.655-16C>GMultiple endocrine neoplasia, type 1 [RCV003631419]likely benign116480769664807696Human1name
405053311CV2959209single nucleotide variantNM_001370259.2(MEN1):c.1185+8G>TMultiple endocrine neoplasia, type 1 [RCV003631535]likely benign116480562764805627Human1name
405057559CV2999256single nucleotide variantNM_001370259.2(MEN1):c.654+17C>TMultiple endocrine neoplasia, type 1 [RCV003631932]likely benign116480787464807874Human1name
405066623CV3066449single nucleotide variantNM_001370259.2(MEN1):c.913-16C>TMultiple endocrine neoplasia, type 1 [RCV003632758]likely benign116480638464806384Human1name
405068656CV3080941single nucleotide variantNM_001370259.2(MEN1):c.446-13C>TMultiple endocrine neoplasia, type 1 [RCV003632962]likely benign116480811264808112Human1name
405134655CV3115595single nucleotide variantNM_001370259.2(MEN1):c.446-12C>GMultiple endocrine neoplasia, type 1 [RCV003816252]likely benign116480811164808111Human1name
405180030CV3119817single nucleotide variantNM_001370259.2(MEN1):c.912+18G>AMultiple endocrine neoplasia, type 1 [RCV003819910]likely benign116480699364806993Human1name
11656630CV314552single nucleotide variantNM_001370259.2(MEN1):c.-23-14G>CHyperparathyroidism [RCV000398941]|MEN1-related disorder [RCV003977883]|Multiple endocrine neoplasia [RCV000335174]benign|uncertain significance116481014664810146Human4name , alternate_id
8565776CV31746single nucleotide variantNM_001370259.2(MEN1):c.1350+1G>AHereditary cancer-predisposing syndrome [RCV002381254]|Hyperparathyroidism 1 [RCV000018187]|Multiple endocrine neoplasia, type 1 [RCV003517126]pathogenic116480503364805033Human3name
404982935CV3184264single nucleotide variantNM_001370259.2(MEN1):c.824+10G>AMultiple endocrine neoplasia, type 1 [RCV003880756]likely benign116480716964807169Human1name
405292316CV3192370single nucleotide variantNM_001370259.2(MEN1):c.-23-29G>CMEN1-related disorder [RCV003929644]likely benign116481016164810161Humanname , trait , alternate_id
405272056CV3203102single nucleotide variantNM_001370259.2(MEN1):c.-23-24T>AMEN1-related disorder [RCV003914149]likely benign116481015664810156Humanname , trait , alternate_id
405288116CV3215066single nucleotide variantNM_001370259.2(MEN1):c.-23-11T>GMEN1-related disorder [RCV003924722]likely benign116481014364810143Humanname , trait , alternate_id
405854576CV3394223single nucleotide variantNM_001370259.2(MEN1):c.1350+2T>GMultiple endocrine neoplasia, type 1 [RCV004547435]pathogenic116480503264805032Human1name
12833848CV372506single nucleotide variantNM_001370259.2(MEN1):c.825-10C>GMultiple endocrine neoplasia, type 1 [RCV000460067]|not specified [RCV000419286]likely benign|uncertain significance116480710864807108Human1name
597950481CV3759701single nucleotide variantNM_001370259.2(MEN1):c.655-13A>CMultiple endocrine neoplasia, type 1 [RCV005079301]likely benign116480769364807693Human1name
597833366CV3760433single nucleotide variantNM_001370259.2(MEN1):c.446-20A>CMultiple endocrine neoplasia, type 1 [RCV005085176]likely benign116480811964808119Human1name
597946458CV3774881single nucleotide variantNM_001370259.2(MEN1):c.446-14T>CMultiple endocrine neoplasia, type 1 [RCV005119978]likely benign116480811364808113Human1name
597944687CV3776662single nucleotide variantNM_001370259.2(MEN1):c.1049+5G>CMultiple endocrine neoplasia, type 1 [RCV005119518]likely pathogenic116480622764806227Human1name
597881641CV3783781single nucleotide variantNM_001370259.2(MEN1):c.784-20C>GMultiple endocrine neoplasia, type 1 [RCV005124277]likely benign116480723964807239Human1name
597881998CV3783856single nucleotide variantNM_001370259.2(MEN1):c.655-17T>CMultiple endocrine neoplasia, type 1 [RCV005124352]likely benign116480769764807697Human1name
597887306CV3787569single nucleotide variantNM_001370259.2(MEN1):c.1350+1G>TMultiple endocrine neoplasia, type 1 [RCV005125135]pathogenic116480503364805033Human1name
597963938CV3792081single nucleotide variantNM_001370259.2(MEN1):c.784-14C>TMultiple endocrine neoplasia, type 1 [RCV005139637]likely benign116480723364807233Human1name
597968206CV3820861single nucleotide variantNM_001370259.2(MEN1):c.784-20C>TMultiple endocrine neoplasia, type 1 [RCV005165702]likely benign116480723964807239Human1name
597846767CV3828056single nucleotide variantNM_001370259.2(MEN1):c.446-10C>GMultiple endocrine neoplasia, type 1 [RCV005173131]likely benign116480810964808109Human1name
597908053CV3853657single nucleotide variantNM_001370259.2(MEN1):c.655-16C>AMultiple endocrine neoplasia, type 1 [RCV005203139]likely benign116480769664807696Human1name
597918266CV3861510single nucleotide variantNM_001370259.2(MEN1):c.655-20T>CMultiple endocrine neoplasia, type 1 [RCV005204667]likely benign116480770064807700Human1name
597921849CV3861832single nucleotide variantNM_001370259.2(MEN1):c.912+20G>AMultiple endocrine neoplasia, type 1 [RCV005205208]likely benign116480699164806991Human1name
598121311CV3889335single nucleotide variantNM_001370259.2(MEN1):c.655-18A>TMultiple endocrine neoplasia, type 1 [RCV005246444]likely benign116480769864807698Human1name
598121316CV3889340single nucleotide variantNM_001370259.2(MEN1):c.783+10G>AMultiple endocrine neoplasia, type 1 [RCV005246449]likely benign116480754264807542Human1name
598121353CV3889377single nucleotide variantNM_001370259.2(MEN1):c.913-12A>GMultiple endocrine neoplasia, type 1 [RCV005246486]likely benign116480638064806380Human1name
598121357CV3889381deletionNM_001370259.2(MEN1):c.825-18delMultiple endocrine neoplasia, type 1 [RCV005246490]likely benign116480711664807116Human1name
598121361CV3889385single nucleotide variantNM_001370259.2(MEN1):c.655-18A>GMultiple endocrine neoplasia, type 1 [RCV005246494]likely benign116480769864807698Human1name
598121461CV3889484duplicationNM_001370259.2(MEN1):c.825-16dupMultiple endocrine neoplasia, type 1 [RCV005247586]likely benign116480711364807114Human1name
598121462CV3889485single nucleotide variantNM_001370259.2(MEN1):c.825-20G>AMultiple endocrine neoplasia, type 1 [RCV005247587]likely benign116480711864807118Human1name
598121489CV3889512single nucleotide variantNM_001370259.2(MEN1):c.1350+8A>GMultiple endocrine neoplasia, type 1 [RCV005247614]likely benign116480502664805026Human1name
598121492CV3889515single nucleotide variantNM_001370259.2(MEN1):c.784-13C>TMultiple endocrine neoplasia, type 1 [RCV005247617]likely benign116480723264807232Human1name
598121510CV3889533single nucleotide variantNM_001370259.2(MEN1):c.1185+7G>CMultiple endocrine neoplasia, type 1 [RCV005247635]likely benign116480562864805628Human1name
598121518CV3889541single nucleotide variantNM_001370259.2(MEN1):c.825-13G>TMultiple endocrine neoplasia, type 1 [RCV005247643]likely benign116480711164807111Human1name
598121544CV3889567single nucleotide variantNM_001370259.2(MEN1):c.655-16C>TMultiple endocrine neoplasia, type 1 [RCV005247669]likely benign116480769664807696Human1name
598205356CV3896821single nucleotide variantNM_001370259.2(MEN1):c.-23-22C>AMultiple endocrine neoplasia, type 1 [RCV005356997]likely pathogenic116481015464810154Human1name
12881416CV398372single nucleotide variantNM_001370259.2(MEN1):c.1351-2A>GMultiple endocrine neoplasia, type 1 [RCV000457794]pathogenic|likely pathogenic116480481864804818Human1name
12881156CV398719single nucleotide variantNM_001370259.2(MEN1):c.1049+9C>AMultiple endocrine neoplasia, type 1 [RCV000457328]likely benign116480622364806223Human1name
12892247CV398744single nucleotide variantNM_001370259.2(MEN1):c.654+10C>TMultiple endocrine neoplasia, type 1 [RCV000461965]likely benign116480788164807881Human1name
12882390CV398852single nucleotide variantNM_001370259.2(MEN1):c.1186-6G>AHereditary cancer-predisposing syndrome [RCV002255399]|Multiple endocrine neoplasia, type 1 [RCV001082032]|not specified [RCV000504111]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance116480520464805204Human2name
12891054CV398875single nucleotide variantNM_001370259.2(MEN1):c.784-10C>TMultiple endocrine neoplasia, type 1 [RCV000475847]|not provided [RCV004722801]|not specified [RCV003387850]benign|likely benign|uncertain significance116480722964807229Human1name
12912118CV419812single nucleotide variantNM_001370259.2(MEN1):c.1049+1G>CHereditary cancer-predisposing syndrome [RCV000490962]|Multiple endocrine neoplasia, type 1 [RCV003517206]|not provided [RCV000521633]pathogenic|likely pathogenic116480623164806231Human2name
13436891CV433095single nucleotide variantNM_001370259.2(MEN1):c.-23-16C>Gnot provided [RCV001637056]benign116481014864810148Humanname
8569643CV45181single nucleotide variantNM_001370259.2(MEN1):c.1049+9C>THereditary cancer-predisposing syndrome [RCV002255260]|Hyperparathyroidism [RCV001108572]|Multiple endocrine neoplasia, type 1 [RCV000030192]|not provided [RCV000679246]|not specified [RCV000609911]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided116480622364806223Human4name
8569659CV45197single nucleotide variantNM_001370259.2(MEN1):c.654+18C>TMultiple endocrine neoplasia, type 1 [RCV000030208]|not specified [RCV000606793]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance116480787364807873Human1name
13493777CV461283deletionNM_001370259.2(MEN1):c.1186-8delMultiple endocrine neoplasia, type 1 [RCV000558432]likely benign116480520664805206Human1name
13485026CV461453single nucleotide variantNM_001370259.2(MEN1):c.1351-6G>AMultiple endocrine neoplasia, type 1 [RCV000553033]likely benign116480482264804822Human1name
13489542CV461805single nucleotide variantNM_001370259.2(MEN1):c.1049+9C>GMultiple endocrine neoplasia, type 1 [RCV000555401]likely benign116480622364806223Human1name
13473063CV462140single nucleotide variantNM_001370259.2(MEN1):c.1350+2T>CMultiple endocrine neoplasia, type 1 [RCV000547647]pathogenic|likely pathogenic116480503264805032Human1name
13614556CV526627single nucleotide variantNM_001370259.2(MEN1):c.1049+1G>AHereditary cancer-predisposing syndrome [RCV002404747]|Multiple endocrine neoplasia [RCV003330850]|Multiple endocrine neoplasia, type 1 [RCV000632121]pathogenic|not provided116480623164806231Human3name
13614608CV526880single nucleotide variantNM_001370259.2(MEN1):c.1186-9C>TMultiple endocrine neoplasia, type 1 [RCV000632160]likely benign116480520764805207Human1name
13614517CV526885single nucleotide variantNM_001370259.2(MEN1):c.784-10C>AMultiple endocrine neoplasia, type 1 [RCV000632083]uncertain significance116480722964807229Human1name
13704423CV537878single nucleotide variantNM_001370259.2(MEN1):c.1049+2T>CMultiple endocrine neoplasia, type 1 [RCV000659845]pathogenic|likely pathogenic116480623064806230Human1name
13706957CV539303single nucleotide variantNM_001370259.2(MEN1):c.913-42G>CHereditary cancer-predisposing syndrome [RCV002258999]|Multiple endocrine neoplasia, type 1 [RCV000663275]|Pituitary dependent hypercortisolism [RCV003230273]|not provided [RCV003311876]benign116480641064806410Human3name
13706805CV539304single nucleotide variantNM_001370259.2(MEN1):c.784-16C>TMultiple endocrine neoplasia, type 1 [RCV000662550]likely benign116480723564807235Human1name
13796448CV551892duplicationNM_001370259.2(MEN1):c.-13_-7dupnot provided [RCV000679244]likely benign116481011564810116Humanname
13807978CV564825single nucleotide variantNM_001370259.2(MEN1):c.1350+6G>AMultiple endocrine neoplasia, type 1 [RCV000687059]likely benign|uncertain significance116480502864805028Human1name
13802789CV565979single nucleotide variantNM_001370259.2(MEN1):c.1050-2A>TMultiple endocrine neoplasia, type 1 [RCV000698599]pathogenic116480577264805772Human1name
13808520CV567422single nucleotide variantNM_001370259.2(MEN1):c.1350+5G>AMultiple endocrine neoplasia, type 1 [RCV000701682]uncertain significance116480502964805029Human1name
13821930CV570781single nucleotide variantNM_001370259.2(MEN1):c.1185+5A>GHereditary cancer-predisposing syndrome [RCV002334322]|Multiple endocrine neoplasia, type 1 [RCV000696574]likely benign|uncertain significance116480563064805630Human2name
14732066CV652580single nucleotide variantNM_001370259.2(MEN1):c.1351-9C>GMultiple endocrine neoplasia, type 1 [RCV000801688]pathogenic|uncertain significance116480482564804825Human1name
14730793CV652582single nucleotide variantNM_001370259.2(MEN1):c.1050-2A>GMultiple endocrine neoplasia, type 1 [RCV000801108]pathogenic116480577264805772Human1name
15124705CV759919single nucleotide variantNM_001370259.2(MEN1):c.912+10T>CMultiple endocrine neoplasia, type 1 [RCV000919028]likely benign116480700164807001Human1name
15131989CV759921single nucleotide variantNM_001370259.2(MEN1):c.446-10C>TMultiple endocrine neoplasia, type 1 [RCV001426994]likely benign116480810964808109Human1name
21072032CV791151single nucleotide variantNM_001370259.2(MEN1):c.-24+84C>GMultiple endocrine neoplasia, type 1 [RCV000988575]likely benign116481043064810430Human1name
25324010CV815503single nucleotide variantNM_001370259.2(MEN1):c.1351-2A>CHereditary cancer-predisposing syndrome [RCV001011032]|Multiple endocrine neoplasia, type 1 [RCV003517291]pathogenic|likely pathogenic116480481864804818Human2name
38476489CV960002single nucleotide variantNM_001370259.2(MEN1):c.1350+5G>TMultiple endocrine neoplasia, type 1 [RCV001233104]uncertain significance116480502964805029Human1name
38597872CV964673single nucleotide variantNM_001370259.2(MEN1):c.1185+1G>AMultiple endocrine neoplasia, type 1 [RCV001253238]conflicting interpretations of pathogenicity|uncertain significance116480563464805634Human1name
126760408CV994633single nucleotide variantNM_001370259.2(MEN1):c.1351-7G>AMultiple endocrine neoplasia, type 1 [RCV001309308]uncertain significance116480482364804823Human1name
126727810CV994637single nucleotide variantNM_001370259.2(MEN1):c.1185+3G>AMultiple endocrine neoplasia, type 1 [RCV001303240]uncertain significance116480563264805632Human1name
150500926CV1223596single nucleotide variantNM_001370259.2(MEN1):c.445+183G>Anot provided [RCV001620717]benign116480948264809482Humanname
150508050CV1227042single nucleotide variantNM_001370259.2(MEN1):c.912+283C>Tnot provided [RCV001636115]benign116480672864806728Humanname
150446298CV1233319single nucleotide variantNM_001370259.2(MEN1):c.1050-65T>Anot provided [RCV001645993]benign116480583564805835Humanname
150461455CV1275956single nucleotide variantNM_001370259.2(MEN1):c.1050-71G>Anot provided [RCV001709894]benign116480584164805841Humanname
8688691CV139292single nucleotide variantNM_001370259.2(MEN1):c.-23-135G>AMultiple endocrine neoplasia, type 1 [RCV001294052]|not specified [RCV000122413]uncertain significance|not provided116481026764810267Human1name
151709755CV1428556single nucleotide variantNM_001370259.2(MEN1):c.1350+12C>AMultiple endocrine neoplasia, type 1 [RCV001994764]likely benign116480502264805022Human1name
151824791CV1436541single nucleotide variantNM_001370259.2(MEN1):c.1049+13C>TMultiple endocrine neoplasia, type 1 [RCV001971702]likely benign116480621964806219Human1name
152054199CV1519578single nucleotide variantNM_001370259.2(MEN1):c.784-129T>AMultiple endocrine neoplasia, type 1 [RCV002155423]|Pituitary adenoma 5, multiple types [RCV003233039]benign|likely benign116480734864807348Human2name
152046015CV1526653single nucleotide variantNM_001370259.2(MEN1):c.1185+19A>GMultiple endocrine neoplasia, type 1 [RCV002084325]|not specified [RCV003493918]likely benign116480561664805616Human1name
152053670CV1533893single nucleotide variantNM_001370259.2(MEN1):c.1185+15C>GMultiple endocrine neoplasia, type 1 [RCV002151076]likely benign116480562064805620Human1name
152052849CV1536305single nucleotide variantNM_001370259.2(MEN1):c.1351-16C>GMultiple endocrine neoplasia, type 1 [RCV002144400]likely benign116480483264804832Human1name
152056522CV1542993single nucleotide variantNM_001370259.2(MEN1):c.1185+18C>AMultiple endocrine neoplasia, type 1 [RCV002178367]likely benign116480561764805617Human1name
152050502CV1543525single nucleotide variantNM_001370259.2(MEN1):c.1185+18C>THereditary cancer-predisposing syndrome [RCV002337347]|Multiple endocrine neoplasia, type 1 [RCV002123811]benign|uncertain significance116480561764805617Human2name
152050511CV1543621single nucleotide variantNM_001370259.2(MEN1):c.1186-15T>AMultiple endocrine neoplasia, type 1 [RCV002123886]likely benign116480521364805213Human1name
152057904CV1554478single nucleotide variantNM_001370259.2(MEN1):c.1186-13C>TMultiple endocrine neoplasia, type 1 [RCV002190855]likely benign116480521164805211Human1name
152058676CV1575872single nucleotide variantNM_001370259.2(MEN1):c.1351-13C>TMultiple endocrine neoplasia, type 1 [RCV002197740]likely benign116480482964804829Human1name
152060993CV1591834single nucleotide variantNM_001370259.2(MEN1):c.1050-20A>GMultiple endocrine neoplasia, type 1 [RCV002214938]likely benign116480579064805790Human1name
152056015CV1611780single nucleotide variantNM_001370259.2(MEN1):c.1185+12G>CMultiple endocrine neoplasia, type 1 [RCV002172824]likely benign116480562364805623Human1name
152059650CV1617982single nucleotide variantNM_001370259.2(MEN1):c.1351-11C>TMultiple endocrine neoplasia, type 1 [RCV002204302]likely benign116480482764804827Human1name
152055359CV1619334single nucleotide variantNM_001370259.2(MEN1):c.1351-15T>GMultiple endocrine neoplasia, type 1 [RCV002167129]likely benign116480483164804831Human1name
152048639CV1621667single nucleotide variantNM_001370259.2(MEN1):c.1351-16C>TMultiple endocrine neoplasia, type 1 [RCV002107896]likely benign116480483264804832Human1name
152059852CV1625101single nucleotide variantNM_001370259.2(MEN1):c.1049+11C>AMultiple endocrine neoplasia, type 1 [RCV002205950]likely benign116480622164806221Human1name
152055715CV1632870single nucleotide variantNM_001370259.2(MEN1):c.1350+18A>GMultiple endocrine neoplasia, type 1 [RCV002170099]likely benign116480501664805016Human1name
152056514CV1640696single nucleotide variantNM_001370259.2(MEN1):c.1050-19G>CMultiple endocrine neoplasia, type 1 [RCV002178274]likely benign116480578964805789Human1name
152049126CV1643382single nucleotide variantNM_001370259.2(MEN1):c.1350+19G>AMultiple endocrine neoplasia, type 1 [RCV002111497]likely benign116480501564805015Human1name
152054659CV1646532single nucleotide variantNM_001370259.2(MEN1):c.1351-12C>TMultiple endocrine neoplasia, type 1 [RCV002160052]likely benign116480482864804828Human1name
152049979CV1650590single nucleotide variantNM_001370259.2(MEN1):c.1186-17C>TMultiple endocrine neoplasia, type 1 [RCV002118890]likely benign116480521564805215Human1name
152061657CV1658208duplicationNM_001370259.2(MEN1):c.1185+10dupMultiple endocrine neoplasia, type 1 [RCV002219872]likely benign116480562464805625Human1name
155732669CV1834070single nucleotide variantNM_001370259.2(MEN1):c.1050-15C>GHereditary cancer-predisposing syndrome [RCV002401254]|Multiple endocrine neoplasia, type 1 [RCV003517418]likely benign|uncertain significance116480578564805785Human2name
156372589CV1878484single nucleotide variantNM_001370259.2(MEN1):c.1049+17T>GMultiple endocrine neoplasia, type 1 [RCV003066425]likely benign116480621564806215Human1name
156405431CV1893831single nucleotide variantNM_001370259.2(MEN1):c.1049+12C>AMultiple endocrine neoplasia, type 1 [RCV003070020]likely benign116480622064806220Human1name
156413740CV1905421single nucleotide variantNM_001370259.2(MEN1):c.1186-16C>TMultiple endocrine neoplasia, type 1 [RCV003073422]likely benign116480521464805214Human1name
156307127CV2013806single nucleotide variantNM_001370259.2(MEN1):c.1351-11C>GMultiple endocrine neoplasia, type 1 [RCV002716334]likely benign116480482764804827Human1name
156272864CV2046205single nucleotide variantNM_001370259.2(MEN1):c.1049+15A>GMultiple endocrine neoplasia, type 1 [RCV002770105]likely benign116480621764806217Human1name
156156084CV2049307single nucleotide variantNM_001370259.2(MEN1):c.1050-19G>AMultiple endocrine neoplasia, type 1 [RCV002801458]likely benign116480578964805789Human1name
155998358CV2057281deletionNM_001370259.2(MEN1):c.1351-10delMultiple endocrine neoplasia, type 1 [RCV002819530]likely benign116480482664804826Human1name
156250263CV2060351single nucleotide variantNM_001370259.2(MEN1):c.1049+11C>TMultiple endocrine neoplasia, type 1 [RCV002791668]likely benign116480622164806221Human1name
156046626CV2091240single nucleotide variantNM_001370259.2(MEN1):c.1186-14T>CMultiple endocrine neoplasia, type 1 [RCV002886013]likely benign116480521264805212Human1name
155962579CV2183633single nucleotide variantNM_001370259.2(MEN1):c.1185+13A>GMultiple endocrine neoplasia, type 1 [RCV003033015]likely benign116480562264805622Human1name
156355394CV2188744single nucleotide variantNM_001370259.2(MEN1):c.1049+13C>AMultiple endocrine neoplasia, type 1 [RCV003048647]likely benign116480621964806219Human1name
11050164CV225551single nucleotide variantNM_001370259.2(MEN1):c.1185+12G>AHereditary cancer-predisposing syndrome [RCV000209727]|Multiple endocrine neoplasia, type 1 [RCV001762454]|not provided [RCV001529469]|not specified [RCV000608324]likely benign|conflicting interpretations of pathogenicity|uncertain significance116480562364805623Human2name
405041381CV2860147single nucleotide variantNM_001370259.2(MEN1):c.1049+18A>GMultiple endocrine neoplasia, type 1 [RCV003518051]likely benign116480621464806214Human1name
405034106CV2924532single nucleotide variantNM_001370259.2(MEN1):c.1350+16A>CMultiple endocrine neoplasia, type 1 [RCV003517076]likely benign116480501864805018Human1name
405052713CV2948756single nucleotide variantNM_001370259.2(MEN1):c.1050-18A>CMultiple endocrine neoplasia, type 1 [RCV003631440]likely benign116480578864805788Human1name
405053349CV2959334single nucleotide variantNM_001370259.2(MEN1):c.1050-19G>TMultiple endocrine neoplasia, type 1 [RCV003631538]likely benign116480578964805789Human1name
405054962CV2976760single nucleotide variantNM_001370259.2(MEN1):c.1351-18C>GMultiple endocrine neoplasia, type 1 [RCV003631707]likely benign116480483464804834Human1name
405057955CV3003418single nucleotide variantNM_001370259.2(MEN1):c.1049+10C>AMultiple endocrine neoplasia, type 1 [RCV003631969]likely benign116480622264806222Human1name
402472901CV3172066single nucleotide variantNM_001370259.2(MEN1):c.1050-10G>CMultiple endocrine neoplasia, type 1 [RCV003874669]likely benign116480578064805780Human1name
402504462CV3181468single nucleotide variantNM_001370259.2(MEN1):c.1050-10G>AMultiple endocrine neoplasia, type 1 [RCV003878302]likely benign116480578064805780Human1name
405719743CV3231262duplicationNM_001370259.2(MEN1):c.-20_-14dupMultiple endocrine neoplasia, type 1 [RCV004012668]uncertain significance116481012264810123Human1name
11614200CV328439microsatelliteNM_001370259.2(MEN1):c.*300CTC[2]Hyperparathyroidism [RCV000332405]|Multiple endocrine neoplasia [RCV000274956]likely benign116480402664804028Humanname
11613037CV328454single nucleotide variantNM_001370259.2(MEN1):c.1186-10C>THyperparathyroidism [RCV000264959]|Multiple endocrine neoplasia, type 1 [RCV000375854]conflicting interpretations of pathogenicity|uncertain significance116480520864805208Human3name
597932781CV3742679single nucleotide variantNM_001370259.2(MEN1):c.1049+16C>TMultiple endocrine neoplasia, type 1 [RCV005076118]likely benign116480621664806216Human1name
597943922CV3765933single nucleotide variantNM_001370259.2(MEN1):c.1049+20G>TMultiple endocrine neoplasia, type 1 [RCV005119311]likely benign116480621264806212Human1name
597909941CV3782057single nucleotide variantNM_001370259.2(MEN1):c.1351-10A>TMultiple endocrine neoplasia, type 1 [RCV005128549]likely benign116480482664804826Human1name
597975923CV3796013single nucleotide variantNM_001370259.2(MEN1):c.1350+17C>TMultiple endocrine neoplasia, type 1 [RCV005144844]likely benign116480501764805017Human1name
597946357CV3807492single nucleotide variantNM_001370259.2(MEN1):c.1186-20C>TMultiple endocrine neoplasia, type 1 [RCV005160127]likely benign116480521864805218Human1name
597932808CV3862114single nucleotide variantNM_001370259.2(MEN1):c.1185+11G>AMultiple endocrine neoplasia, type 1 [RCV005206978]likely benign116480562464805624Human1name
598121377CV3889400single nucleotide variantNM_001370259.2(MEN1):c.1050-17C>TMultiple endocrine neoplasia, type 1 [RCV005246509]likely benign116480578764805787Human1name
598121505CV3889528single nucleotide variantNM_001370259.2(MEN1):c.1186-18C>TMultiple endocrine neoplasia, type 1 [RCV005247630]likely benign116480521664805216Human1name
13480031CV461456single nucleotide variantNM_001370259.2(MEN1):c.1351-10A>GMultiple endocrine neoplasia, type 1 [RCV000528351]likely benign116480482664804826Human1name
150421103CV1198230single nucleotide variantNM_001370259.2(MEN1):c.1050-163T>Cnot provided [RCV001577896]likely benign116480593364805933Humanname
150483600CV1222329single nucleotide variantNM_001370259.2(MEN1):c.1049+115A>Gnot provided [RCV001617331]benign116480611764806117Humanname
150474007CV1234376single nucleotide variantNM_001370259.2(MEN1):c.1350+103G>Cnot provided [RCV001651696]benign116480493164804931Humanname
10055559CV197539microsatelliteNM_001370259.2(MEN1):c.784-19TC[2]Multiple endocrine neoplasia, type 1 [RCV000409712]|not provided [RCV001529754]|not specified [RCV000182400]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance116480723364807234Humanname
401909630CV2813318single nucleotide variantNM_001370259.2(MEN1):c.1050-138C>Tnot provided [RCV003397978]likely benign116480590864805908Humanname
401909466CV2813319single nucleotide variantNM_001370259.2(MEN1):c.1050-180C>Tnot provided [RCV003397979]likely benign116480595064805950Humanname
401909467CV2813320single nucleotide variantNM_001370259.2(MEN1):c.1050-216C>Tnot provided [RCV003397980]likely benign116480598664805986Humanname
401933214CV2813321single nucleotide variantNM_001370259.2(MEN1):c.1049+229A>Gnot provided [RCV003409288]likely benign116480600364806003Humanname
407482302CV3415273single nucleotide variantNM_001370259.2(MEN1):c.1050-137C>Anot specified [RCV004595988]likely benign116480590764805907Humanname
151722654CV1465561deletionNM_001370259.2(MEN1):c.825-1_825delMultiple endocrine neoplasia, type 1 [RCV002043184]likely pathogenic116480709864807099Human1name
8569658CV45196deletionNM_001370259.2(MEN1):c.649_654+2delMultiple endocrine neoplasia, type 1 [RCV000030207]likely pathogenic116480788964807896Human1name
598205348CV3896820deletionNM_001370259.2(MEN1):c.-23-11_-22delMultiple endocrine neoplasia, type 1 [RCV005356996]likely pathogenic116481013164810143Human1name
14743286CV652589deletionNM_001370259.2(MEN1):c.655-15_658delMultiple endocrine neoplasia, type 1 [RCV000823354]likely pathogenic116480767764807695Human1name
127248597CV1056034deletionNM_001370259.2(MEN1):c.1351-3_1359delMultiple endocrine neoplasia, type 1 [RCV001377991]|not provided [RCV001810728]pathogenic|likely pathogenic116480480864804819Human1name
127256071CV1100222duplicationNM_001370259.2(MEN1):c.655-7_655-4dupMultiple endocrine neoplasia, type 1 [RCV001426737]likely benign116480768364807684Human1name
329846677CV2534138single nucleotide variantNM_001370259.2(MEN1):c.9G>A (p.Leu3=)not provided [RCV003228345]uncertain significance116481010164810101Humanname
405049676CV2898658deletionNM_001370259.2(MEN1):c.1351-4_1352delMultiple endocrine neoplasia, type 1 [RCV003518776]uncertain significance116480481564804820Human1name
13614533CV526394deletionNM_001370259.2(MEN1):c.655-6_655-4delHereditary cancer-predisposing syndrome [RCV004944028]|Multiple endocrine neoplasia, type 1 [RCV000632098]uncertain significance116480768464807686Human2name
13813277CV564808deletionNM_001370259.2(MEN1):c.1351-2_*132delMultiple endocrine neoplasia, type 1 [RCV000704250]pathogenic116480420264804818Human1name
25325720CV810850single nucleotide variantNM_001370259.2(MEN1):c.6G>T (p.Gly2=)Hereditary cancer-predisposing syndrome [RCV001025907]likely benign116481010464810104Human1name
127239550CV1062438duplicationNM_001370259.2(MEN1):c.6dup (p.Leu3fs)Multiple endocrine neoplasia, type 1 [RCV001383274]pathogenic116481010364810104Human1name
127251792CV1078501single nucleotide variantNM_001370259.2(MEN1):c.27G>A (p.Thr9=)Hereditary cancer-predisposing syndrome [RCV002438973]|Multiple endocrine neoplasia, type 1 [RCV001417881]benign|likely benign116481008364810083Human2name
152054640CV1543904single nucleotide variantNM_001370259.2(MEN1):c.24G>A (p.Lys8=)Hereditary cancer-predisposing syndrome [RCV004945918]|Multiple endocrine neoplasia, type 1 [RCV002159841]benign|likely benign116481008664810086Human2name
155686572CV1852638single nucleotide variantNM_001370259.2(MEN1):c.27G>T (p.Thr9=)Hereditary cancer-predisposing syndrome [RCV002441577]|Multiple endocrine neoplasia, type 1 [RCV005248799]benign|likely benign116481008364810083Human2name
10056879CV197565single nucleotide variantNM_130799.2(MEN1):c.76G>T (p.Glu26Ter)not provided [RCV000182445]pathogenic116481003464810034Humanname
10407302CV212951single nucleotide variantNM_001370259.2(MEN1):c.18C>T (p.Ala6=)Hereditary cancer-predisposing syndrome [RCV000565891]|MEN1-related disorder [RCV003955209]|Multiple endocrine neoplasia, type 1 [RCV000195439]|not provided [RCV001705156]|not specified [RCV005237702]benign|likely benign116481009264810092Human3name , alternate_id
329368525CV2426179single nucleotide variantNM_001370259.2(MEN1):c.18C>G (p.Ala6=)Hereditary cancer-predisposing syndrome [RCV003171362]|Multiple endocrine neoplasia, type 1 [RCV005248971]benign|likely benign116481009264810092Human2name
405065809CV3058848single nucleotide variantNM_001370259.2(MEN1):c.15C>T (p.Ala5=)Hereditary cancer-predisposing syndrome [RCV005377545]|Multiple endocrine neoplasia, type 1 [RCV003632693]benign|likely benign116481009564810095Human2name
405723254CV3230295duplicationNM_001370259.2(MEN1):c.913-11_913-6dupMultiple endocrine neoplasia, type 1 [RCV004013047]likely benign116480637364806374Human1name
12889727CV398442single nucleotide variantNM_001370259.2(MEN1):c.15C>A (p.Ala5=)Hereditary cancer-predisposing syndrome [RCV001012305]|Multiple endocrine neoplasia, type 1 [RCV000473276]benign|likely benign116481009564810095Human2name
13491498CV461284deletionNM_001370259.2(MEN1):c.940_1050-227delMultiple endocrine neoplasia, type 1 [RCV000556751]pathogenic116480599764806341Human1name
13500922CV476490single nucleotide variantNM_001370259.2(MEN1):c.12G>A (p.Lys4=)Hereditary cancer-predisposing syndrome [RCV000574276]likely benign116481009864810098Human1name
14742644CV652585deletionNM_001370259.2(MEN1):c.623_1050-143delMultiple endocrine neoplasia, type 1 [RCV000822934]pathogenic116480591364807922Human1name
15135145CV687809single nucleotide variantNM_001370259.2(MEN1):c.21G>A (p.Gln7=)Hereditary cancer-predisposing syndrome [RCV001014748]|Multiple endocrine neoplasia, type 1 [RCV000864258]benign|likely benign|conflicting interpretations of pathogenicity116481008964810089Human2name
26894209CV851887deletionNM_001370259.2(MEN1):c.1277_1350+28delMultiple endocrine neoplasia, type 1 [RCV001047541]pathogenic|likely pathogenic116480500664805107Human1name
127244672CV1078500single nucleotide variantNM_001370259.2(MEN1):c.42C>G (p.Arg14=)Multiple endocrine neoplasia, type 1 [RCV001416376]likely benign116481006864810068Human1name
127280895CV1100232single nucleotide variantNM_001370259.2(MEN1):c.75C>T (p.Ala25=)Hereditary cancer-predisposing syndrome [RCV002396032]|Multiple endocrine neoplasia, type 1 [RCV001446786]likely benign116481003564810035Human2name
127330431CV1121720single nucleotide variantNM_001370259.2(MEN1):c.96G>A (p.Pro32=)Hereditary cancer-predisposing syndrome [RCV005369888]|Multiple endocrine neoplasia, type 1 [RCV001470858]benign|likely benign116481001464810014Human2name
127334235CV1121721single nucleotide variantNM_001370259.2(MEN1):c.51C>T (p.Asp17=)Multiple endocrine neoplasia, type 1 [RCV001473459]benign|likely benign116481005964810059Human1name
127310845CV1142566single nucleotide variantNM_001370259.2(MEN1):c.36G>A (p.Pro12=)Hereditary cancer-predisposing syndrome [RCV002350983]|Multiple endocrine neoplasia, type 1 [RCV001481253]benign|likely benign116481007464810074Human2name
8689954CV139881single nucleotide variantNM_001370259.2(MEN1):c.30G>T (p.Leu10=)Hereditary cancer-predisposing syndrome [RCV000491878]|Hyperparathyroidism [RCV001108653]|Multiple endocrine neoplasia, type 1 [RCV000123385]|not provided [RCV000757460]|not specified [RCV000609004]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance116481008064810080Human4name
152055512CV1535789single nucleotide variantNM_001370259.2(MEN1):c.85C>A (p.Arg29=)Hereditary cancer-predisposing syndrome [RCV005370163]|Multiple endocrine neoplasia, type 1 [RCV002168427]likely benign116481002564810025Human2name
152058465CV1605092single nucleotide variantNM_001370259.2(MEN1):c.84C>T (p.Gly28=)Multiple endocrine neoplasia, type 1 [RCV002196156]benign|likely benign116481002664810026Human1name
152061210CV1619946single nucleotide variantNM_001370259.2(MEN1):c.28C>T (p.Leu10=)Multiple endocrine neoplasia, type 1 [RCV002216387]likely benign116481008264810082Human1name
152049123CV1643376deletionNM_001370259.2(MEN1):c.655-19_655-17delMultiple endocrine neoplasia, type 1 [RCV002111496]likely benign116480769764807699Human1name
155669382CV1822067single nucleotide variantNM_001370259.2(MEN1):c.66G>A (p.Leu22=)Hereditary cancer-predisposing syndrome [RCV002367139]|Multiple endocrine neoplasia, type 1 [RCV005248649]benign|likely benign116481004464810044Human2name
155667117CV1855946single nucleotide variantNM_001370259.2(MEN1):c.2T>C (p.Met1Thr)Hereditary cancer-predisposing syndrome [RCV002435647]pathogenic116481010864810108Human1name
155667154CV1855951single nucleotide variantNM_001370259.2(MEN1):c.2T>G (p.Met1Arg)Hereditary cancer-predisposing syndrome [RCV002435652]pathogenic116481010864810108Human1name
10042192CV186159single nucleotide variantNM_001370259.2(MEN1):c.3G>A (p.Met1Ile)Hereditary cancer-predisposing syndrome [RCV002372056]|Multiple endocrine neoplasia, type 1 [RCV000168423]|not provided [RCV001556584]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity116481010764810107Human2name
156205652CV1878159single nucleotide variantNM_001370259.2(MEN1):c.2T>A (p.Met1Lys)Multiple endocrine neoplasia, type 1 [RCV003058328]pathogenic116481010864810108Human1name
156277699CV2011334single nucleotide variantNM_001370259.2(MEN1):c.60G>A (p.Val20=)Multiple endocrine neoplasia, type 1 [RCV002715192]likely benign116481005064810050Human1name
155938030CV2071627single nucleotide variantNM_001370259.2(MEN1):c.99C>T (p.Asp33=)Multiple endocrine neoplasia, type 1 [RCV002839220]likely benign116481001164810011Human1name
156035173CV2089355single nucleotide variantNM_001370259.2(MEN1):c.81G>T (p.Leu27=)Multiple endocrine neoplasia, type 1 [RCV002867218]likely benign116481002964810029Human1name
11545055CV254244single nucleotide variantNM_001370259.2(MEN1):c.60G>C (p.Val20=)Hereditary cancer-predisposing syndrome [RCV002356342]|Multiple endocrine neoplasia, type 1 [RCV000470194]|not provided [RCV004812314]|not specified [RCV000244620]benign|likely benign|uncertain significance116481005064810050Human2name
405041986CV2877479deletionNM_001370259.2(MEN1):c.825-13_825-11delMultiple endocrine neoplasia, type 1 [RCV003518080]likely benign116480710964807111Human1name
405046116CV2881531single nucleotide variantNM_001370259.2(MEN1):c.42C>T (p.Arg14=)Multiple endocrine neoplasia, type 1 [RCV003518446]likely benign116481006864810068Human1name
405052494CV2938377single nucleotide variantNM_001370259.2(MEN1):c.45C>T (p.Ser15=)Multiple endocrine neoplasia, type 1 [RCV003631420]benign|likely benign116481006564810065Human1name
405055057CV2980477microsatelliteNM_001370259.2(MEN1):c.784-17_784-14delMultiple endocrine neoplasia, type 1 [RCV003631715]uncertain significance116480723364807236Humanname
405057381CV2995809single nucleotide variantNM_001370259.2(MEN1):c.30G>C (p.Leu10=)Multiple endocrine neoplasia, type 1 [RCV003631918]likely benign116481008064810080Human1name
405057608CV2995901single nucleotide variantNM_001370259.2(MEN1):c.4G>A (p.Gly2Arg)Multiple endocrine neoplasia, type 1 [RCV003631936]uncertain significance116481010664810106Human1name
405058775CV3004763single nucleotide variantNM_001370259.2(MEN1):c.33C>T (p.Phe11=)Multiple endocrine neoplasia, type 1 [RCV003632024]likely benign116481007764810077Human1name
405068220CV3080277single nucleotide variantNM_001370259.2(MEN1):c.75C>G (p.Ala25=)Multiple endocrine neoplasia, type 1 [RCV003632923]likely benign116481003564810035Human1name
405247556CV3159035single nucleotide variantNM_001370259.2(MEN1):c.75C>A (p.Ala25=)Hereditary cancer-predisposing syndrome [RCV005377600]|Multiple endocrine neoplasia, type 1 [RCV003869180]benign|likely benign|uncertain significance116481003564810035Human2name
405706642CV3225197deletionNM_001370259.2(MEN1):c.-23-28_783+50delMultiple endocrine neoplasia, type 1 [RCV003990251]uncertain significance116480750264810160Human1name
596941301CV3546161single nucleotide variantNM_001370259.2(MEN1):c.66G>C (p.Leu22=)Multiple endocrine neoplasia, type 1 [RCV004806790]likely benign116481004464810044Human1name
597906269CV3856857deletionNM_001370259.2(MEN1):c.1049+2_1049+3delMultiple endocrine neoplasia, type 1 [RCV005202906]pathogenic116480622964806230Human1name
598121400CV3889423single nucleotide variantNM_001370259.2(MEN1):c.30G>A (p.Leu10=)Multiple endocrine neoplasia, type 1 [RCV005246532]benign116481008064810080Human1name
598121572CV3889595single nucleotide variantNM_001370259.2(MEN1):c.48C>A (p.Ile16=)Multiple endocrine neoplasia, type 1 [RCV005247697]benign116481006264810062Human1name
598226547CV3895817microsatelliteNM_001370259.2(MEN1):c.655-15_655-14delMultiple endocrine neoplasia, type 1 [RCV005362109]likely pathogenic116480769464807695Humanname
12890934CV398427single nucleotide variantNM_001370259.2(MEN1):c.48C>T (p.Ile16=)Hereditary cancer-predisposing syndrome [RCV003278821]|Multiple endocrine neoplasia, type 1 [RCV001504106]benign|likely benign116481006264810062Human2name
12911454CV419865single nucleotide variantNM_001370259.2(MEN1):c.1A>T (p.Met1Leu)Hereditary cancer-predisposing syndrome [RCV000491567]|Multiple endocrine neoplasia, type 1 [RCV000536890]|not provided [RCV004999528]pathogenic|likely pathogenic116481010964810109Human2name
13435901CV433093deletionNM_001370259.2(MEN1):c.913-65_913-14delnot specified [RCV000506209]uncertain significance116480638264806433Humanname
8569649CV45187single nucleotide variantNM_001370259.2(MEN1):c.1A>G (p.Met1Val)Hereditary cancer-predisposing syndrome [RCV000491918]|Multiple endocrine neoplasia, type 1 [RCV000030198]|not provided [RCV000480514]|not specified [RCV000508430]pathogenic|likely pathogenic116481010964810109Human2name
13489188CV462206single nucleotide variantNM_001370259.2(MEN1):c.54C>T (p.Asp18=)Multiple endocrine neoplasia, type 1 [RCV000532778]likely benign116481005664810056Human1name
13614605CV526385single nucleotide variantNM_001370259.2(MEN1):c.87A>C (p.Arg29=)Hereditary cancer-predisposing syndrome [RCV003162807]|Multiple endocrine neoplasia, type 1 [RCV000632158]benign|likely benign116481002364810023Human2name
13812826CV565975deletionNM_001370259.2(MEN1):c.1350+4_1350+6delMultiple endocrine neoplasia, type 1 [RCV000689757]uncertain significance116480502864805030Human1name
14728580CV640320single nucleotide variantNM_001370259.2(MEN1):c.5G>A (p.Gly2Glu)Multiple endocrine neoplasia, type 1 [RCV000800118]uncertain significance116481010564810105Human1name
15127610CV693082single nucleotide variantNM_001370259.2(MEN1):c.81G>C (p.Leu27=)Hereditary cancer-predisposing syndrome [RCV002427205]|Multiple endocrine neoplasia, type 1 [RCV002064804]benign|likely benign116481002964810029Human2name
15125069CV693083single nucleotide variantNM_001370259.2(MEN1):c.79C>T (p.Leu27=)Hereditary cancer-predisposing syndrome [RCV002416068]|Multiple endocrine neoplasia, type 1 [RCV001429118]likely benign116481003164810031Human2name
15145644CV768589single nucleotide variantNM_001370259.2(MEN1):c.64C>T (p.Leu22=)Multiple endocrine neoplasia, type 1 [RCV001477371]likely benign116481004664810046Human1name
15114595CV784078single nucleotide variantNM_001370259.2(MEN1):c.36G>T (p.Pro12=)Hereditary cancer-predisposing syndrome [RCV003307773]|Multiple endocrine neoplasia, type 1 [RCV000978248]likely benign116481007464810074Human2name
25324932CV810845single nucleotide variantNM_001370259.2(MEN1):c.63C>T (p.Arg21=)Hereditary cancer-predisposing syndrome [RCV001025224]|Multiple endocrine neoplasia, type 1 [RCV001471473]|not provided [RCV004998571]benign|likely benign|uncertain significance116481004764810047Human2name
26914700CV838754single nucleotide variantNM_001370259.2(MEN1):c.1A>C (p.Met1Leu)Hereditary cancer-predisposing syndrome [RCV003380824]|Multiple endocrine neoplasia, type 1 [RCV001055158]pathogenic116481010964810109Human2name
38471357CV956586single nucleotide variantNM_001370259.2(MEN1):c.57G>A (p.Val19=)Hereditary cancer-predisposing syndrome [RCV002357056]|Multiple endocrine neoplasia, type 1 [RCV001248632]benign|likely benign|uncertain significance116481005364810053Human2name
127272010CV1078496single nucleotide variantNM_001370259.2(MEN1):c.294A>T (p.Arg98=)Multiple endocrine neoplasia, type 1 [RCV001405558]likely benign116480981664809816Human1name
127230933CV1078497single nucleotide variantNM_001370259.2(MEN1):c.249G>T (p.Leu83=)Multiple endocrine neoplasia, type 1 [RCV001395035]benign|likely benign116480986164809861Human1name
127280040CV1078498single nucleotide variantNM_001370259.2(MEN1):c.216T>G (p.Pro72=)Hereditary cancer-predisposing syndrome [RCV002420914]|Multiple endocrine neoplasia, type 1 [RCV001409524]likely benign116480989464809894Human2name
127279022CV1078499single nucleotide variantNM_001370259.2(MEN1):c.198C>T (p.Ser66=)Hereditary cancer-predisposing syndrome [RCV002420911]|Multiple endocrine neoplasia, type 1 [RCV001408853]benign|likely benign116480991264809912Human2name
127248533CV1100229single nucleotide variantNM_001370259.2(MEN1):c.219C>T (p.Gly73=)Hereditary cancer-predisposing syndrome [RCV002432212]|Multiple endocrine neoplasia, type 1 [RCV001435855]|not provided [RCV003405663]benign|likely benign116480989164809891Human2name
127254682CV1100230single nucleotide variantNM_001370259.2(MEN1):c.159C>A (p.Val53=)Multiple endocrine neoplasia, type 1 [RCV001426354]likely benign116480995164809951Human1name
127264453CV1100231single nucleotide variantNM_001370259.2(MEN1):c.156C>T (p.Arg52=)Hereditary cancer-predisposing syndrome [RCV004641645]|Multiple endocrine neoplasia, type 1 [RCV001428860]benign|likely benign116480995464809954Human2name
127334204CV1121718single nucleotide variantNM_001370259.2(MEN1):c.237C>G (p.Pro79=)Hereditary cancer-predisposing syndrome [RCV004037140]|Multiple endocrine neoplasia, type 1 [RCV001473443]likely benign116480987364809873Human2name
127330836CV1121719single nucleotide variantNM_001370259.2(MEN1):c.126C>T (p.Gly42=)Multiple endocrine neoplasia, type 1 [RCV001471189]benign|likely benign116480998464809984Human1name
127317315CV1142561single nucleotide variantNM_001370259.2(MEN1):c.234T>C (p.Phe78=)Multiple endocrine neoplasia, type 1 [RCV001503354]likely benign116480987664809876Human1name
127311663CV1142562single nucleotide variantNM_001370259.2(MEN1):c.207C>A (p.Pro69=)Multiple endocrine neoplasia, type 1 [RCV001501661]likely benign116480990364809903Human1name
127307915CV1142563single nucleotide variantNM_001370259.2(MEN1):c.159C>G (p.Val53=)Hereditary cancer-predisposing syndrome [RCV004037206]|Multiple endocrine neoplasia, type 1 [RCV001480451]likely benign116480995164809951Human2name
127334144CV1142564single nucleotide variantNM_001370259.2(MEN1):c.135G>A (p.Glu45=)Hereditary cancer-predisposing syndrome [RCV002384808]|Multiple endocrine neoplasia, type 1 [RCV001490664]benign|likely benign116480997564809975Human2name
127333389CV1142565single nucleotide variantNM_001370259.2(MEN1):c.102G>C (p.Leu34=)Hereditary cancer-predisposing syndrome [RCV002255674]|Multiple endocrine neoplasia, type 1 [RCV001490151]likely benign116481000864810008Human2name
151774695CV1365684single nucleotide variantNM_001370259.2(MEN1):c.117G>A (p.Leu39=)Multiple endocrine neoplasia, type 1 [RCV001872788]likely benign|uncertain significance116480999364809993Human1name
151720728CV1452553single nucleotide variantNM_001370259.2(MEN1):c.14C>G (p.Ala5Gly)Multiple endocrine neoplasia, type 1 [RCV002037474]uncertain significance116481009664810096Human1name
152055800CV1526308single nucleotide variantNM_001370259.2(MEN1):c.246C>T (p.Asp82=)Hereditary cancer-predisposing syndrome [RCV002443107]|Multiple endocrine neoplasia, type 1 [RCV002170805]likely benign116480986464809864Human2name
152055081CV1526935single nucleotide variantNM_001370259.2(MEN1):c.150C>T (p.Val50=)Hereditary cancer-predisposing syndrome [RCV002391337]|Multiple endocrine neoplasia, type 1 [RCV002163718]likely benign116480996064809960Human2name
152052350CV1545385single nucleotide variantNM_001370259.2(MEN1):c.171C>T (p.Asn57=)Hereditary cancer-predisposing syndrome [RCV002400350]|Multiple endocrine neoplasia, type 1 [RCV002139856]benign|likely benign116480993964809939Human2name
152045073CV1579925single nucleotide variantNM_001370259.2(MEN1):c.204C>A (p.Ala68=)Hereditary cancer-predisposing syndrome [RCV002416461]|Multiple endocrine neoplasia, type 1 [RCV002076219]likely benign116480990664809906Human2name
152047880CV1593163single nucleotide variantNM_001370259.2(MEN1):c.213G>T (p.Pro71=)Hereditary cancer-predisposing syndrome [RCV002427676]|Multiple endocrine neoplasia, type 1 [RCV002101973]likely benign116480989764809897Human2name
152049469CV1617602single nucleotide variantNM_001370259.2(MEN1):c.213G>A (p.Pro71=)Hereditary cancer-predisposing syndrome [RCV003161591]|Multiple endocrine neoplasia, type 1 [RCV002114571]benign|likely benign116480989764809897Human2name
152052095CV1625407single nucleotide variantNM_001370259.2(MEN1):c.180G>A (p.Glu60=)Hereditary cancer-predisposing syndrome [RCV002409530]|Multiple endocrine neoplasia, type 1 [RCV002137658]benign|likely benign116480993064809930Human2name
152060138CV1636833single nucleotide variantNM_001370259.2(MEN1):c.142C>T (p.Leu48=)Multiple endocrine neoplasia, type 1 [RCV002208150]likely benign116480996864809968Human1name
152053975CV1653584single nucleotide variantNM_001370259.2(MEN1):c.204C>T (p.Ala68=)Multiple endocrine neoplasia, type 1 [RCV002153612]likely benign116480990664809906Human1name
152046508CV1653995single nucleotide variantNM_001370259.2(MEN1):c.189C>T (p.Phe63=)Multiple endocrine neoplasia, type 1 [RCV002088727]benign|likely benign116480992164809921Human1name
152057165CV1655547single nucleotide variantNM_001370259.2(MEN1):c.195C>T (p.Pro65=)Multiple endocrine neoplasia, type 1 [RCV002184214]benign|likely benign116480991564809915Human1name
152061666CV1658298single nucleotide variantNM_001370259.2(MEN1):c.288G>A (p.Gln96=)Hereditary cancer-predisposing syndrome [RCV004945934]|Multiple endocrine neoplasia, type 1 [RCV002219937]benign|likely benign116480982264809822Human2name
155745308CV1834305single nucleotide variantNM_001370259.2(MEN1):c.16G>C (p.Ala6Pro)Hereditary cancer-predisposing syndrome [RCV002414690]uncertain significance116481009464810094Human1name
155709622CV1843931single nucleotide variantNM_001370259.2(MEN1):c.213G>C (p.Pro71=)Hereditary cancer-predisposing syndrome [RCV002430526]likely benign116480989764809897Human1name
155692950CV1851222single nucleotide variantNM_001370259.2(MEN1):c.240G>A (p.Val80=)Hereditary cancer-predisposing syndrome [RCV002459718]likely benign116480987064809870Human1name
155670268CV1852967single nucleotide variantNM_001370259.2(MEN1):c.264C>A (p.Ala88=)Hereditary cancer-predisposing syndrome [RCV002453039]likely benign116480984664809846Human1name
155670277CV1852971single nucleotide variantNM_001370259.2(MEN1):c.264C>T (p.Ala88=)Hereditary cancer-predisposing syndrome [RCV002453042]|Multiple endocrine neoplasia, type 1 [RCV005098234]benign|likely benign116480984664809846Human2name
156261535CV1913534single nucleotide variantNM_001370259.2(MEN1):c.17C>T (p.Ala6Val)Multiple endocrine neoplasia, type 1 [RCV002627781]uncertain significance116481009364810093Human1name
10056875CV197528deletionNM_001370259.2(MEN1):c.1350+1_1350+11delHereditary cancer-predisposing syndrome [RCV002381592]|Multiple endocrine neoplasia, type 1 [RCV000632087]|not provided [RCV000182441]pathogenic116480502364805033Human2name
10056885CV197543single nucleotide variantNM_130799.2(MEN1):c.671A>C (p.Lys224Thr)not provided [RCV000182451]likely pathogenic116480766464807664Humanname
10056853CV197544single nucleotide variantNM_130799.2(MEN1):c.666C>G (p.Tyr222Ter)not provided [RCV000182412]pathogenic116480766964807669Humanname
10056882CV197551single nucleotide variantNM_130799.2(MEN1):c.547T>C (p.Trp183Arg)not provided [RCV000182448]pathogenic116480799864807998Humanname
10056848CV197553single nucleotide variantNM_130799.2(MEN1):c.521A>C (p.His174Pro)not provided [RCV000182407]likely pathogenic116480802464808024Humanname
10056881CV197556single nucleotide variantNM_130799.2(MEN1):c.467G>T (p.Gly156Val)not provided [RCV000182447]pathogenic116480807864808078Humanname
10056891CV197567deletionNM_001370259.2(MEN1):c.55del (p.Val19fs)not provided [RCV000182457]pathogenic116481005564810055Humanname
156015326CV2034992single nucleotide variantNM_001370259.2(MEN1):c.243C>T (p.Ala81=)Hereditary cancer-predisposing syndrome [RCV004642029]|Multiple endocrine neoplasia, type 1 [RCV002780370]benign|likely benign116480986764809867Human2name
156139403CV2082232single nucleotide variantNM_001370259.2(MEN1):c.219C>A (p.Gly73=)Multiple endocrine neoplasia, type 1 [RCV002871928]likely benign116480989164809891Human1name
156010734CV2100046single nucleotide variantNM_001370259.2(MEN1):c.108C>T (p.Leu36=)Multiple endocrine neoplasia, type 1 [RCV002909092]benign|likely benign116481000264810002Human1name
10407312CV212950single nucleotide variantNM_001370259.2(MEN1):c.115T>C (p.Leu39=)Hereditary cancer-predisposing syndrome [RCV001010026]|MEN1-related disorder [RCV003895268]|Multiple endocrine neoplasia, type 1 [RCV000195578]benign|likely benign116480999564809995Human3name , alternate_id
10768083CV222155single nucleotide variantNM_001370259.2(MEN1):c.1299= (p.His433=)Multiple endocrine neoplasia, type 1 [RCV001082521]|not provided [RCV001812213]benign116480508564805085Human1name
10768504CV222165single nucleotide variantNM_001370259.2(MEN1):c.282C>T (p.Thr94=)Hereditary cancer-predisposing syndrome [RCV000566889]|Multiple endocrine neoplasia, type 1 [RCV000206522]benign|likely benign116480982864809828Human2name
329368190CV2424215single nucleotide variantNM_001370259.2(MEN1):c.183C>T (p.Leu61=)Hereditary cancer-predisposing syndrome [RCV003183539]|Multiple endocrine neoplasia, type 1 [RCV003631300]likely benign116480992764809927Human2name
329370612CV2426171single nucleotide variantNM_001370259.2(MEN1):c.285C>G (p.Ala95=)Hereditary cancer-predisposing syndrome [RCV003172092]likely benign116480982564809825Human1name
401781047CV2734135single nucleotide variantNM_001370259.2(MEN1):c.25A>C (p.Thr9Pro)Hereditary cancer-predisposing syndrome [RCV003288364]uncertain significance116481008564810085Human1name
401781050CV2734136single nucleotide variantNM_001370259.2(MEN1):c.23A>C (p.Lys8Thr)Hereditary cancer-predisposing syndrome [RCV003288365]uncertain significance116481008764810087Human1name
401878256CV2790764single nucleotide variantNM_001370259.2(MEN1):c.144G>A (p.Leu48=)Hereditary cancer-predisposing syndrome [RCV003384132]|Multiple endocrine neoplasia, type 1 [RCV003631319]benign|likely benign116480996664809966Human2name
405045184CV2891033single nucleotide variantNM_001370259.2(MEN1):c.26C>T (p.Thr9Met)Multiple endocrine neoplasia, type 1 [RCV003518366]uncertain significance116481008464810084Human1name
405033184CV2909761deletionNM_001370259.2(MEN1):c.1350+3_1350+22delMultiple endocrine neoplasia, type 1 [RCV003516992]uncertain significance116480501264805031Human1name
405037360CV2911322single nucleotide variantNM_001370259.2(MEN1):c.297C>T (p.Gly99=)Multiple endocrine neoplasia, type 1 [RCV003517601]likely benign|conflicting interpretations of pathogenicity116480981364809813Human1name
405038703CV2932306single nucleotide variantNM_001370259.2(MEN1):c.210C>T (p.Asp70=)Multiple endocrine neoplasia, type 1 [RCV003517749]likely benign116480990064809900Human1name
405052550CV2948541single nucleotide variantNM_001370259.2(MEN1):c.129C>T (p.Phe43=)Hereditary cancer-predisposing syndrome [RCV005377443]|Multiple endocrine neoplasia, type 1 [RCV003631427]benign|likely benign116480998164809981Human2name
405054895CV2972918single nucleotide variantNM_001370259.2(MEN1):c.105G>A (p.Val35=)Multiple endocrine neoplasia, type 1 [RCV003631669]likely benign116481000564810005Human1name
405056151CV2979394duplicationNM_001370259.2(MEN1):c.35dup (p.Leu13fs)Multiple endocrine neoplasia, type 1 [RCV003631817]pathogenic116481007464810075Human1name
405055668CV2981969single nucleotide variantNM_001370259.2(MEN1):c.267C>T (p.Leu89=)Multiple endocrine neoplasia, type 1 [RCV003631773]likely benign116480984364809843Human1name
405060544CV3018889single nucleotide variantNM_001370259.2(MEN1):c.270T>C (p.Tyr90=)Multiple endocrine neoplasia, type 1 [RCV003632212]likely benign116480984064809840Human1name
405013050CV3128182single nucleotide variantNM_001370259.2(MEN1):c.144G>T (p.Leu48=)Multiple endocrine neoplasia, type 1 [RCV003829062]benign|likely benign116480996664809966Human1name
405731723CV3229117single nucleotide variantNM_001370259.2(MEN1):c.249G>C (p.Leu83=)Multiple endocrine neoplasia, type 1 [RCV004013867]likely benign116480986164809861Human1name
405748028CV3232899single nucleotide variantNM_001370259.2(MEN1):c.19C>A (p.Gln7Lys)Multiple endocrine neoplasia, type 1 [RCV004015858]uncertain significance116481009164810091Human1name
405712601CV3382232single nucleotide variantNM_001370259.2(MEN1):c.294A>C (p.Arg98=)Hereditary cancer-predisposing syndrome [RCV004522716]likely benign116480981664809816Human1name
405871406CV3400885single nucleotide variantNM_001370259.2(MEN1):c.14C>T (p.Ala5Val)Hereditary cancer-predisposing syndrome [RCV004943312]|Multiple endocrine neoplasia, type 1 [RCV004574839]uncertain significance116481009664810096Human2name
407502730CV3449863single nucleotide variantNM_001370259.2(MEN1):c.216T>A (p.Pro72=)Hereditary cancer-predisposing syndrome [RCV004645246]likely benign116480989464809894Human1name
596941314CV3546164single nucleotide variantNM_001370259.2(MEN1):c.13G>A (p.Ala5Thr)Multiple endocrine neoplasia, type 1 [RCV004806793]uncertain significance116481009764810097Human1name
597650335CV3556627deletionNM_001370259.2(MEN1):c.42del (p.Ser15fs)Hereditary cancer-predisposing syndrome [RCV004943362]pathogenic116481006864810068Human1name
597650243CV3556661single nucleotide variantNM_001370259.2(MEN1):c.261C>T (p.Ala87=)Hereditary cancer-predisposing syndrome [RCV004943395]|Multiple endocrine neoplasia, type 1 [RCV005249720]benign|likely benign116480984964809849Human2name
597850479CV3746908single nucleotide variantNM_001370259.2(MEN1):c.102G>T (p.Leu34=)Multiple endocrine neoplasia, type 1 [RCV005060536]likely benign116481000864810008Human1name
598121541CV3889564single nucleotide variantNM_001370259.2(MEN1):c.207C>T (p.Pro69=)Multiple endocrine neoplasia, type 1 [RCV005247666]benign116480990364809903Human1name
598121551CV3889574single nucleotide variantNM_001370259.2(MEN1):c.279C>T (p.Phe93=)Multiple endocrine neoplasia, type 1 [RCV005247676]benign116480983164809831Human1name
598121556CV3889579single nucleotide variantNM_001370259.2(MEN1):c.132G>A (p.Val44=)Multiple endocrine neoplasia, type 1 [RCV005247681]benign116480997864809978Human1name
12888045CV398422single nucleotide variantNM_001370259.2(MEN1):c.267C>G (p.Leu89=)Hereditary cancer-predisposing syndrome [RCV002436376]|Multiple endocrine neoplasia, type 1 [RCV000470195]likely benign|conflicting interpretations of pathogenicity|uncertain significance116480984364809843Human2name
598225718CV3985822single nucleotide variantNM_001370259.2(MEN1):c.207C>G (p.Pro69=)Hereditary cancer-predisposing syndrome [RCV005380452]likely benign116480990364809903Human1name
12882728CV398750single nucleotide variantNM_001370259.2(MEN1):c.201C>T (p.Pro67=)Hereditary cancer-predisposing syndrome [RCV000563989]|Multiple endocrine neoplasia, type 1 [RCV000460216]benign|likely benign116480990964809909Human2name
12885633CV398755single nucleotide variantNM_001370259.2(MEN1):c.165T>A (p.Pro55=)Multiple endocrine neoplasia, type 1 [RCV001498825]likely benign116480994564809945Human1name
12912130CV419788insertionNM_130799.2(MEN1):c.1391_1392ins13 (p.?)Hereditary cancer-predisposing syndrome [RCV000490991]pathogenic116480477564804776Human1name
8569651CV45189single nucleotide variantNM_001370259.2(MEN1):c.249G>A (p.Leu83=)Multiple endocrine neoplasia, type 1 [RCV000030200]likely benign116480986164809861Human1name
13504343CV461852single nucleotide variantNM_001370259.2(MEN1):c.153C>T (p.Asn51=)Hereditary cancer-predisposing syndrome [RCV002404382]|Multiple endocrine neoplasia, type 1 [RCV000527744]benign|likely benign116480995764809957Human2name
13490462CV461854single nucleotide variantNM_001370259.2(MEN1):c.114C>G (p.Ser38=)Hereditary cancer-predisposing syndrome [RCV002456059]|Multiple endocrine neoplasia, type 1 [RCV000533537]benign|likely benign116480999664809996Human2name
13468062CV462201single nucleotide variantNM_001370259.2(MEN1):c.162C>T (p.Ile54=)Hereditary cancer-predisposing syndrome [RCV000562193]|Multiple endocrine neoplasia, type 1 [RCV001505816]likely benign116480994864809948Human2name
13476112CV475986single nucleotide variantNM_001370259.2(MEN1):c.16G>T (p.Ala6Ser)Hereditary cancer-predisposing syndrome [RCV000565141]|Multiple endocrine neoplasia, type 1 [RCV000632111]conflicting interpretations of pathogenicity|uncertain significance116481009464810094Human2name
8604970CV50291single nucleotide variantNM_001370259.2(MEN1):c.1621= (p.Thr541=)Multiple endocrine neoplasia, type 1 [RCV001084452]|Primary hyperparathyroidism [RCV000210359]|not provided [RCV000034785]|not specified [RCV000082334]benign|uncertain significance116480454664804546Human3name
13525828CV503711single nucleotide variantNM_001370259.2(MEN1):c.225C>A (p.Leu75=)Multiple endocrine neoplasia, type 1 [RCV001427745]|not specified [RCV000603478]likely benign116480988564809885Human1name
13614601CV526382single nucleotide variantNM_001370259.2(MEN1):c.132G>T (p.Val44=)Multiple endocrine neoplasia, type 1 [RCV000632155]likely benign116480997864809978Human1name
13614590CV526407single nucleotide variantNM_001370259.2(MEN1):c.183C>A (p.Leu61=)Multiple endocrine neoplasia, type 1 [RCV000632146]likely benign116480992764809927Human1name
13614611CV526419single nucleotide variantNM_001370259.2(MEN1):c.100C>T (p.Leu34=)Hereditary cancer-predisposing syndrome [RCV004025414]|Multiple endocrine neoplasia, type 1 [RCV000632162]benign|likely benign116481001064810010Human2name
13614594CV526677single nucleotide variantNM_001370259.2(MEN1):c.240G>T (p.Val80=)Hereditary cancer-predisposing syndrome [RCV005367471]|Multiple endocrine neoplasia, type 1 [RCV000632150]likely benign116480987064809870Human2name
13614632CV526909single nucleotide variantNM_001370259.2(MEN1):c.195C>A (p.Pro65=)Multiple endocrine neoplasia, type 1 [RCV000632176]likely benign116480991564809915Human1name
13614553CV526916single nucleotide variantNM_001370259.2(MEN1):c.177C>T (p.Pro59=)Hereditary cancer-predisposing syndrome [RCV004944029]|Multiple endocrine neoplasia, type 1 [RCV000632118]likely benign|uncertain significance116480993364809933Human2name
13796484CV551891single nucleotide variantNM_001370259.2(MEN1):c.177C>G (p.Pro59=)Hereditary cancer-predisposing syndrome [RCV004639316]|Multiple endocrine neoplasia, type 1 [RCV002060848]|not provided [RCV000679254]benign|likely benign116480993364809933Human2name
14710248CV640319single nucleotide variantNM_001370259.2(MEN1):c.11A>C (p.Lys4Thr)Hereditary cancer-predisposing syndrome [RCV003307425]|Multiple endocrine neoplasia, type 1 [RCV000793073]uncertain significance116481009964810099Human2name
15158614CV687808single nucleotide variantNM_001370259.2(MEN1):c.225C>T (p.Leu75=)Hereditary cancer-predisposing syndrome [RCV002442837]|Multiple endocrine neoplasia, type 1 [RCV001436230]benign|likely benign116480988564809885Human2name
15164145CV724573single nucleotide variantNM_001370259.2(MEN1):c.252T>C (p.Ser84=)Hereditary cancer-predisposing syndrome [RCV004028314]|Multiple endocrine neoplasia, type 1 [RCV001505382]benign|likely benign116480985864809858Human2name
15186810CV738108single nucleotide variantNM_001370259.2(MEN1):c.228C>T (p.Thr76=)Hereditary cancer-predisposing syndrome [RCV002445006]|Multiple endocrine neoplasia, type 1 [RCV001423824]|not provided [RCV004768739]benign|likely benign|uncertain significance116480988264809882Human2name
15176515CV768584single nucleotide variantNM_001370259.2(MEN1):c.165T>C (p.Pro55=)Multiple endocrine neoplasia, type 1 [RCV001482401]likely benign116480994564809945Human1name
15119163CV768585single nucleotide variantNM_001370259.2(MEN1):c.159C>T (p.Val53=)Multiple endocrine neoplasia, type 1 [RCV001407849]|not provided [RCV004704351]likely benign116480995164809951Human1name
15109609CV768586single nucleotide variantNM_001370259.2(MEN1):c.120G>T (p.Val40=)Multiple endocrine neoplasia, type 1 [RCV001478208]likely benign116480999064809990Human1name
15131027CV768587single nucleotide variantNM_001370259.2(MEN1):c.108C>G (p.Leu36=)Multiple endocrine neoplasia, type 1 [RCV001493987]likely benign116481000264810002Human1name
15112138CV768588single nucleotide variantNM_001370259.2(MEN1):c.102G>A (p.Leu34=)Hereditary cancer-predisposing syndrome [RCV002382145]|Multiple endocrine neoplasia, type 1 [RCV001402881]likely benign116481000864810008Human2name
15126371CV784077single nucleotide variantNM_001370259.2(MEN1):c.156C>A (p.Arg52=)Multiple endocrine neoplasia, type 1 [RCV001451254]likely benign116480995464809954Human1name
25328587CV810839single nucleotide variantNM_001370259.2(MEN1):c.258C>T (p.Ile86=)Hereditary cancer-predisposing syndrome [RCV001016032]|Multiple endocrine neoplasia, type 1 [RCV001426905]benign|likely benign116480985264809852Human2name
25328224CV810840single nucleotide variantNM_001370259.2(MEN1):c.237C>T (p.Pro79=)Hereditary cancer-predisposing syndrome [RCV001015323]|MEN1-related disorder [RCV003943321]|Multiple endocrine neoplasia, type 1 [RCV002068904]benign|likely benign116480987364809873Human3name , alternate_id
25323156CV810844single nucleotide variantNM_001370259.2(MEN1):c.121C>T (p.Leu41=)Hereditary cancer-predisposing syndrome [RCV001010404]|Multiple endocrine neoplasia, type 1 [RCV001427949]benign|likely benign116480998964809989Human2name
25315718CV810848deletionNM_001370259.2(MEN1):c.32del (p.Phe11fs)Hereditary cancer-predisposing syndrome [RCV001019781]pathogenic116481007864810078Human1name
25325872CV810849single nucleotide variantNM_001370259.2(MEN1):c.16G>A (p.Ala6Thr)Hereditary cancer-predisposing syndrome [RCV001012794]|Multiple endocrine neoplasia, type 1 [RCV001222652]uncertain significance116481009464810094Human2name
26892495CV838745single nucleotide variantNM_001370259.2(MEN1):c.228C>G (p.Thr76=)Hereditary cancer-predisposing syndrome [RCV004639440]|Multiple endocrine neoplasia, type 1 [RCV001046976]likely benign|conflicting interpretations of pathogenicity|uncertain significance116480988264809882Human2name
38489739CV935686single nucleotide variantNM_001370259.2(MEN1):c.22A>G (p.Lys8Glu)Multiple endocrine neoplasia, type 1 [RCV001210328]uncertain significance116481008864810088Human1name
40904057CV976354single nucleotide variantNM_001370259.2(MEN1):c.20A>C (p.Gln7Pro)Hereditary cancer-predisposing syndrome [RCV002418869]|not provided [RCV001269893]pathogenic|uncertain significance116481009064810090Human1name
40903997CV976355single nucleotide variantNM_001370259.2(MEN1):c.19C>T (p.Gln7Ter)Multiple endocrine neoplasia, type 1 [RCV003517321]|not provided [RCV001269824]pathogenic116481009164810091Human1name
126731535CV1000741single nucleotide variantNM_001370259.2(MEN1):c.615C>T (p.Asp205=)Hereditary cancer-predisposing syndrome [RCV004629555]|Multiple endocrine neoplasia, type 1 [RCV003631197]|not provided [RCV001310604]likely benign116480793064807930Human2name
126752526CV1009835single nucleotide variantNM_001370259.2(MEN1):c.82G>C (p.Gly28Arg)Hereditary cancer-predisposing syndrome [RCV002431933]|Multiple endocrine neoplasia, type 1 [RCV001327130]uncertain significance116481002864810028Human2name
8643163CV102146single nucleotide variantNM_001370259.2(MEN1):c.435C>T (p.Ser145=)Hereditary cancer-predisposing syndrome [RCV000491558]|Hyperparathyroidism [RCV000378351]|Multiple endocrine neoplasia, type 1 [RCV000999732]|not provided [RCV000712292]|not specified [RCV000082336]benign|likely benign116480967564809675Human4name
126911015CV1038080single nucleotide variantNM_001370259.2(MEN1):c.349C>T (p.Leu117=)Hereditary cancer-predisposing syndrome [RCV002456531]|Multiple endocrine neoplasia, type 1 [RCV003631199]|not provided [RCV001354916]likely benign|uncertain significance116480976164809761Human2name
126922913CV1047368single nucleotide variantNM_001370259.2(MEN1):c.645G>A (p.Val215=)Hereditary cancer-predisposing syndrome [RCV002255652]|Multiple endocrine neoplasia, type 1 [RCV001365237]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance116480790064807900Human2name
126908239CV1052600deletionNM_001370259.2(MEN1):c.201del (p.Ala68fs)Multiple endocrine neoplasia, type 1 [RCV001374378]pathogenic116480990964809909Human1name
127266664CV1062435deletionNM_001370259.2(MEN1):c.238del (p.Val80fs)Multiple endocrine neoplasia, type 1 [RCV001381751]pathogenic116480987264809872Human1name
127272664CV1062436duplicationNM_001370259.2(MEN1):c.234dup (p.Pro79fs)Hereditary cancer-predisposing syndrome [RCV003382568]|Multiple endocrine neoplasia, type 1 [RCV001390533]pathogenic116480987564809876Human2name
127238747CV1078484single nucleotide variantNM_001370259.2(MEN1):c.996C>T (p.Arg332=)Multiple endocrine neoplasia, type 1 [RCV001392528]likely benign116480628564806285Human1name
127263733CV1078485single nucleotide variantNM_001370259.2(MEN1):c.954C>A (p.Ile318=)Multiple endocrine neoplasia, type 1 [RCV001403075]likely benign116480632764806327Human1name
127232517CV1078487single nucleotide variantNM_001370259.2(MEN1):c.876C>T (p.Thr292=)Hereditary cancer-predisposing syndrome [RCV002377644]|Multiple endocrine neoplasia, type 1 [RCV001413493]benign|likely benign116480704764807047Human2name
127281296CV1078488single nucleotide variantNM_001370259.2(MEN1):c.792C>G (p.Leu264=)Hereditary cancer-predisposing syndrome [RCV002420917]|Multiple endocrine neoplasia, type 1 [RCV001410365]benign|likely benign116480721164807211Human2name
127249910CV1078490single nucleotide variantNM_001370259.2(MEN1):c.681C>T (p.Tyr227=)Hereditary cancer-predisposing syndrome [RCV002368305]|Multiple endocrine neoplasia, type 1 [RCV001417430]|not provided [RCV001532640]benign|likely benign116480765464807654Human2name
127230113CV1078491single nucleotide variantNM_001370259.2(MEN1):c.669G>A (p.Leu223=)Multiple endocrine neoplasia, type 1 [RCV001412353]likely benign116480766664807666Human1name
127230825CV1078492single nucleotide variantNM_001370259.2(MEN1):c.657C>T (p.Ser219=)Hereditary cancer-predisposing syndrome [RCV003284300]|Multiple endocrine neoplasia, type 1 [RCV001394944]|not provided [RCV004774444]likely benign|uncertain significance116480767864807678Human2name
127281735CV1078494single nucleotide variantNM_001370259.2(MEN1):c.411G>T (p.Arg137=)Multiple endocrine neoplasia, type 1 [RCV001410663]likely benign116480969964809699Human1name
127233167CV1078495single nucleotide variantNM_001370259.2(MEN1):c.321T>C (p.Pro107=)Multiple endocrine neoplasia, type 1 [RCV001396015]likely benign116480978964809789Human1name
127280331CV1100220single nucleotide variantNM_001370259.2(MEN1):c.972G>C (p.Leu324=)Multiple endocrine neoplasia, type 1 [RCV001446383]likely benign116480630964806309Human1name
127282733CV1100225single nucleotide variantNM_001370259.2(MEN1):c.652C>A (p.Arg218=)Multiple endocrine neoplasia, type 1 [RCV001448064]likely benign116480789364807893Human1name
127232552CV1100226single nucleotide variantNM_001370259.2(MEN1):c.627G>A (p.Gln209=)Multiple endocrine neoplasia, type 1 [RCV001421353]benign|likely benign116480791864807918Human1name
127277223CV1100227single nucleotide variantNM_001370259.2(MEN1):c.504G>A (p.Leu168=)Hereditary cancer-predisposing syndrome [RCV004038425]|Multiple endocrine neoplasia, type 1 [RCV001444252]|not provided [RCV003399233]likely benign116480804164808041Human2name
127281746CV1100228single nucleotide variantNM_001370259.2(MEN1):c.300C>T (p.Ala100=)Multiple endocrine neoplasia, type 1 [RCV001447332]benign|likely benign116480981064809810Human1name
127306827CV1121715single nucleotide variantNM_001370259.2(MEN1):c.582T>A (p.Ala194=)Hereditary cancer-predisposing syndrome [RCV004641652]|Multiple endocrine neoplasia, type 1 [RCV001462864]benign|likely benign116480796364807963Human2name
127313335CV1121717single nucleotide variantNM_001370259.2(MEN1):c.360G>A (p.Lys120=)Multiple endocrine neoplasia, type 1 [RCV001464659]benign|likely benign116480975064809750Human1name
127301911CV1142553single nucleotide variantNM_001370259.2(MEN1):c.936C>T (p.Tyr312=)Hereditary cancer-predisposing syndrome [RCV002377870]|Multiple endocrine neoplasia, type 1 [RCV001498978]benign|likely benign116480634564806345Human2name
127299215CV1142554single nucleotide variantNM_001370259.2(MEN1):c.933C>A (p.Thr311=)Hereditary cancer-predisposing syndrome [RCV004037392]|Multiple endocrine neoplasia, type 1 [RCV001498250]likely benign116480634864806348Human2name
127322619CV1142555single nucleotide variantNM_001370259.2(MEN1):c.903C>G (p.Leu301=)Hereditary cancer-predisposing syndrome [RCV003382609]|Multiple endocrine neoplasia, type 1 [RCV001484984]likely benign116480702064807020Human2name
127314295CV1142556single nucleotide variantNM_001370259.2(MEN1):c.807C>T (p.Asp269=)Multiple endocrine neoplasia, type 1 [RCV001482190]likely benign116480719664807196Human1name
127325752CV1142558single nucleotide variantNM_001370259.2(MEN1):c.663G>C (p.Leu221=)Multiple endocrine neoplasia, type 1 [RCV001506095]benign|likely benign116480767264807672Human1name
127328601CV1142559single nucleotide variantNM_001370259.2(MEN1):c.480T>C (p.Ala160=)Hereditary cancer-predisposing syndrome [RCV002342098]|Multiple endocrine neoplasia, type 1 [RCV001486862]benign|likely benign116480806564808065Human2name
151802555CV1361427single nucleotide variantNM_001370259.2(MEN1):c.52G>T (p.Asp18Tyr)Multiple endocrine neoplasia, type 1 [RCV001926002]uncertain significance116481005864810058Human1name
8688775CV136488single nucleotide variantNM_001370259.2(MEN1):c.597C>T (p.His199=)Hereditary cancer-predisposing syndrome [RCV000491834]|Multiple endocrine neoplasia, type 1 [RCV000119192]|not provided [RCV001650974]|not specified [RCV000249354]benign|likely benign116480794864807948Human2name
151798165CV1377298deletionNM_001370259.2(MEN1):c.234del (p.Val80fs)Multiple endocrine neoplasia, type 1 [RCV001917452]pathogenic116480987664809876Human1name
151721914CV1378617single nucleotide variantNM_001370259.2(MEN1):c.88G>A (p.Glu30Lys)Hereditary cancer-predisposing syndrome [RCV003299031]|Multiple endocrine neoplasia, type 1 [RCV002041388]uncertain significance116481002264810022Human2name
8689956CV139883single nucleotide variantNM_001370259.2(MEN1):c.591C>G (p.Thr197=)Hereditary cancer-predisposing syndrome [RCV002354309]|Multiple endocrine neoplasia, type 1 [RCV000123387]benign|likely benign|uncertain significance116480795464807954Human2name
151711404CV1451139duplicationNM_001370259.2(MEN1):c.152dup (p.Asn51fs)Multiple endocrine neoplasia, type 1 [RCV002002502]pathogenic116480995764809958Human1name
151805331CV1490178single nucleotide variantNM_001370259.2(MEN1):c.95C>T (p.Pro32Leu)Hereditary cancer-predisposing syndrome [RCV002386734]|Multiple endocrine neoplasia, type 1 [RCV001930980]uncertain significance116481001564810015Human2name
152055779CV1526211single nucleotide variantNM_001370259.2(MEN1):c.336C>T (p.Val112=)Hereditary cancer-predisposing syndrome [RCV002454356]|Multiple endocrine neoplasia, type 1 [RCV002170731]likely benign116480977464809774Human2name
152050442CV1530893single nucleotide variantNM_001370259.2(MEN1):c.921C>G (p.Ala307=)Multiple endocrine neoplasia, type 1 [RCV002123150]likely benign116480636064806360Human1name
152051944CV1533890single nucleotide variantNM_001370259.2(MEN1):c.990C>A (p.Arg330=)Hereditary cancer-predisposing syndrome [RCV003382857]|Multiple endocrine neoplasia, type 1 [RCV002136434]likely benign116480629164806291Human2name
152055040CV1536346single nucleotide variantNM_001370259.2(MEN1):c.846C>T (p.Asn282=)Hereditary cancer-predisposing syndrome [RCV004945967]|Multiple endocrine neoplasia, type 1 [RCV002163359]likely benign116480707764807077Human2name
152048933CV1540699single nucleotide variantNM_001370259.2(MEN1):c.573G>A (p.Glu191=)Multiple endocrine neoplasia, type 1 [RCV002110099]likely benign116480797264807972Human1name
152045114CV1548343single nucleotide variantNM_001370259.2(MEN1):c.852A>G (p.Ala284=)Hereditary cancer-predisposing syndrome [RCV002443206]|Multiple endocrine neoplasia, type 1 [RCV002076478]likely benign116480707164807071Human2name
152045404CV1548573single nucleotide variantNM_001370259.2(MEN1):c.387C>G (p.Leu129=)Hereditary cancer-predisposing syndrome [RCV002363637]|Multiple endocrine neoplasia, type 1 [RCV002079288]benign|likely benign116480972364809723Human2name
152052294CV1566614single nucleotide variantNM_001370259.2(MEN1):c.990C>T (p.Arg330=)Multiple endocrine neoplasia, type 1 [RCV002139327]likely benign116480629164806291Human1name
152061391CV1568009microsatelliteNM_001370259.2(MEN1):c.1351-24_1351-14delMultiple endocrine neoplasia, type 1 [RCV002218121]|not specified [RCV005238223]benign|likely benign116480483064804840Humanname
152053519CV1573923single nucleotide variantNM_001370259.2(MEN1):c.489G>A (p.Gly163=)Multiple endocrine neoplasia, type 1 [RCV002150012]likely benign116480805664808056Human1name
152053721CV1578668single nucleotide variantNM_001370259.2(MEN1):c.690T>C (p.Cys230=)Multiple endocrine neoplasia, type 1 [RCV002151686]likely benign116480764564807645Human1name
152056117CV1579364single nucleotide variantNM_001370259.2(MEN1):c.591C>T (p.Thr197=)Hereditary cancer-predisposing syndrome [RCV002352927]|Multiple endocrine neoplasia, type 1 [RCV002173888]benign|likely benign116480795464807954Human2name
152045845CV1584958single nucleotide variantNM_001370259.2(MEN1):c.864G>A (p.Glu288=)Hereditary cancer-predisposing syndrome [RCV002372878]|Multiple endocrine neoplasia, type 1 [RCV002082950]likely benign116480705964807059Human2name
152058146CV1590039single nucleotide variantNM_001370259.2(MEN1):c.876C>G (p.Thr292=)Hereditary cancer-predisposing syndrome [RCV002373033]|Multiple endocrine neoplasia, type 1 [RCV002193835]benign|likely benign116480704764807047Human2name
152058251CV1602873single nucleotide variantNM_001370259.2(MEN1):c.528C>A (p.Ala176=)Hereditary cancer-predisposing syndrome [RCV004047136]|Multiple endocrine neoplasia, type 1 [RCV002194362]likely benign116480801764808017Human2name
152045213CV1603355single nucleotide variantNM_001370259.2(MEN1):c.303C>G (p.Val101=)Multiple endocrine neoplasia, type 1 [RCV002077438]likely benign116480980764809807Human1name
152046365CV1605583single nucleotide variantNM_001370259.2(MEN1):c.555G>T (p.Val185=)Multiple endocrine neoplasia, type 1 [RCV002087434]likely benign116480799064807990Human1name
152055301CV1615743single nucleotide variantNM_001370259.2(MEN1):c.777G>A (p.Leu259=)Multiple endocrine neoplasia, type 1 [RCV002166589]likely benign116480755864807558Human1name
152048300CV1628884single nucleotide variantNM_001370259.2(MEN1):c.744C>T (p.Asp248=)Hereditary cancer-predisposing syndrome [RCV005375046]|Multiple endocrine neoplasia, type 1 [RCV002104933]likely benign116480759164807591Human2name
152060312CV1629638single nucleotide variantNM_001370259.2(MEN1):c.792C>T (p.Leu264=)Hereditary cancer-predisposing syndrome [RCV005375040]|Multiple endocrine neoplasia, type 1 [RCV002208835]likely benign116480721164807211Human2name
152052887CV1637603single nucleotide variantNM_001370259.2(MEN1):c.528C>G (p.Ala176=)Hereditary cancer-predisposing syndrome [RCV002346457]|Multiple endocrine neoplasia, type 1 [RCV002144736]likely benign116480801764808017Human2name
152057156CV1641841single nucleotide variantNM_001370259.2(MEN1):c.666C>T (p.Tyr222=)Hereditary cancer-predisposing syndrome [RCV002363699]|Multiple endocrine neoplasia, type 1 [RCV002184066]likely benign116480766964807669Human2name
152056320CV1641934single nucleotide variantNM_001370259.2(MEN1):c.342C>T (p.Ser114=)Hereditary cancer-predisposing syndrome [RCV002454562]|Multiple endocrine neoplasia, type 1 [RCV002176239]likely benign116480976864809768Human2name
152046730CV1652290single nucleotide variantNM_001370259.2(MEN1):c.954C>T (p.Ile318=)Hereditary cancer-predisposing syndrome [RCV002372891]|Multiple endocrine neoplasia, type 1 [RCV002090682]likely benign116480632764806327Human2name
152031306CV1668791deletionNM_001370259.2(MEN1):c.274del (p.Arg92fs)Multiple endocrine neoplasia, type 1 [RCV002223017]pathogenic|likely pathogenic116480983664809836Human1name
153001606CV1684510single nucleotide variantNM_001370259.2(MEN1):c.52G>A (p.Asp18Asn)Hereditary cancer-predisposing syndrome [RCV002257046]uncertain significance116481005864810058Human1name
155664372CV1785998single nucleotide variantNM_001370259.2(MEN1):c.33C>G (p.Phe11Leu)Hereditary cancer-predisposing syndrome [RCV002452020]|Multiple endocrine neoplasia, type 1 [RCV003099455]uncertain significance116481007764810077Human2name
155676445CV1796142single nucleotide variantNM_001370259.2(MEN1):c.35C>G (p.Pro12Arg)Hereditary cancer-predisposing syndrome [RCV002455181]|Multiple endocrine neoplasia, type 1 [RCV003517379]|not provided [RCV004779294]likely pathogenic|uncertain significance116481007564810075Human2name
155741011CV1797467single nucleotide variantNM_001370259.2(MEN1):c.414C>G (p.Ala138=)Hereditary cancer-predisposing syndrome [RCV002333210]likely benign116480969664809696Human1name
155707535CV1798677single nucleotide variantNM_001370259.2(MEN1):c.468T>G (p.Gly156=)Hereditary cancer-predisposing syndrome [RCV002335251]likely benign116480807764808077Human1name
155707800CV1798728single nucleotide variantNM_001370259.2(MEN1):c.46A>G (p.Ile16Val)Hereditary cancer-predisposing syndrome [RCV002335295]uncertain significance116481006464810064Human1name
155669080CV1800016single nucleotide variantNM_001370259.2(MEN1):c.546C>T (p.Ala182=)Hereditary cancer-predisposing syndrome [RCV002349770]likely benign116480799964807999Human1name
155702733CV1800565single nucleotide variantNM_001370259.2(MEN1):c.576G>A (p.Gln192=)Hereditary cancer-predisposing syndrome [RCV002359645]likely benign116480796964807969Human1name
155673565CV1801374single nucleotide variantNM_001370259.2(MEN1):c.633C>T (p.Val211=)Hereditary cancer-predisposing syndrome [RCV002368922]likely benign116480791264807912Human1name
155724585CV1804708single nucleotide variantNM_001370259.2(MEN1):c.654G>T (p.Arg218=)Hereditary cancer-predisposing syndrome [RCV002364364]likely pathogenic116480789164807891Human1name
155738072CV1804997single nucleotide variantNM_001370259.2(MEN1):c.456G>A (p.Leu152=)Hereditary cancer-predisposing syndrome [RCV002342120]likely benign116480808964808089Human1name
155737176CV1805335single nucleotide variantNM_001370259.2(MEN1):c.47T>C (p.Ile16Thr)Hereditary cancer-predisposing syndrome [RCV002330738]|Multiple endocrine neoplasia, type 1 [RCV003631245]uncertain significance116481006364810063Human2name
155742687CV1806163single nucleotide variantNM_001370259.2(MEN1):c.528C>T (p.Ala176=)Hereditary cancer-predisposing syndrome [RCV002344505]likely benign116480801764808017Human1name
155743491CV1806808single nucleotide variantNM_001370259.2(MEN1):c.55G>A (p.Val19Met)Hereditary cancer-predisposing syndrome [RCV002344889]|Multiple endocrine neoplasia, type 1 [RCV005096822]uncertain significance116481005564810055Human2name
155672553CV1809169single nucleotide variantNM_001370259.2(MEN1):c.495C>T (p.Cys165=)Hereditary cancer-predisposing syndrome [RCV002351328]|Multiple endocrine neoplasia, type 1 [RCV005248625]benign|likely benign116480805064808050Human2name
155734914CV1809693single nucleotide variantNM_001370259.2(MEN1):c.522C>T (p.His174=)Hereditary cancer-predisposing syndrome [RCV002340839]|Multiple endocrine neoplasia, type 1 [RCV005248627]benign|likely benign116480802364808023Human2name
155704006CV1810613single nucleotide variantNM_001370259.2(MEN1):c.579A>T (p.Thr193=)Hereditary cancer-predisposing syndrome [RCV002359802]|Multiple endocrine neoplasia, type 1 [RCV003096876]benign|likely benign116480796664807966Human2name
155710146CV1811593single nucleotide variantNM_001370259.2(MEN1):c.639C>G (p.Ala213=)Hereditary cancer-predisposing syndrome [RCV002361538]likely benign116480790664807906Human1name
155698311CV1811969single nucleotide variantNM_001370259.2(MEN1):c.661C>T (p.Leu221=)Hereditary cancer-predisposing syndrome [RCV002375884]likely benign116480767464807674Human1name
155715911CV1812418single nucleotide variantNM_001370259.2(MEN1):c.693C>T (p.Asp231=)Hereditary cancer-predisposing syndrome [RCV002362416]|Multiple endocrine neoplasia, type 1 [RCV003098423]likely benign116480764264807642Human2name
155707679CV1812535single nucleotide variantNM_001370259.2(MEN1):c.696C>A (p.Arg232=)Hereditary cancer-predisposing syndrome [RCV002378165]likely benign116480763964807639Human1name
155698354CV1813168single nucleotide variantNM_001370259.2(MEN1):c.756C>T (p.Asp252=)Hereditary cancer-predisposing syndrome [RCV002394067]|Multiple endocrine neoplasia, type 1 [RCV003103415]benign|likely benign116480757964807579Human2name
155708884CV1814002single nucleotide variantNM_001370259.2(MEN1):c.831C>T (p.Pro277=)Hereditary cancer-predisposing syndrome [RCV002430420]|Multiple endocrine neoplasia, type 1 [RCV003631252]benign|likely benign116480709264807092Human2name
155696739CV1816158single nucleotide variantNM_001370259.2(MEN1):c.750C>T (p.His250=)Hereditary cancer-predisposing syndrome [RCV002393751]|Multiple endocrine neoplasia, type 1 [RCV003631249]benign|likely benign116480758564807585Human2name
155742163CV1816573single nucleotide variantNM_001370259.2(MEN1):c.786G>A (p.Lys262=)Hereditary cancer-predisposing syndrome [RCV002412271]|Multiple endocrine neoplasia, type 1 [RCV003099766]benign|likely benign116480721764807217Human2name
155688045CV1817531single nucleotide variantNM_001370259.2(MEN1):c.870G>A (p.Glu290=)Hereditary cancer-predisposing syndrome [RCV002373447]|Multiple endocrine neoplasia, type 1 [RCV003776532]benign|likely benign116480705364807053Human2name
155710794CV1817759single nucleotide variantNM_001370259.2(MEN1):c.90G>C (p.Glu30Asp)Hereditary cancer-predisposing syndrome [RCV002378639]uncertain significance116481002064810020Human1name
155668394CV1818167single nucleotide variantNM_001370259.2(MEN1):c.95C>G (p.Pro32Arg)Hereditary cancer-predisposing syndrome [RCV002385283]|Multiple endocrine neoplasia, type 1 [RCV003094838]likely pathogenic|uncertain significance116481001564810015Human2name
155668587CV1818207single nucleotide variantNM_001370259.2(MEN1):c.960C>T (p.Pro320=)Hereditary cancer-predisposing syndrome [RCV002385313]likely benign116480632164806321Human1name
155672721CV1818493single nucleotide variantNM_001370259.2(MEN1):c.969C>T (p.Tyr323=)Hereditary cancer-predisposing syndrome [RCV002387007]|Multiple endocrine neoplasia, type 1 [RCV003094857]likely benign116480631264806312Human2name
155667589CV1819722single nucleotide variantNM_001370259.2(MEN1):c.745C>T (p.Leu249=)Hereditary cancer-predisposing syndrome [RCV002385153]likely benign116480759064807590Human1name
155700518CV1821091single nucleotide variantNM_001370259.2(MEN1):c.900C>A (p.Thr300=)Hereditary cancer-predisposing syndrome [RCV002376373]likely benign116480702364807023Human1name
155728897CV1823416single nucleotide variantNM_001370259.2(MEN1):c.769C>T (p.Leu257=)Hereditary cancer-predisposing syndrome [RCV002400556]|Multiple endocrine neoplasia, type 1 [RCV003099718]likely benign116480756664807566Human2name
155684377CV1824864single nucleotide variantNM_001370259.2(MEN1):c.933C>T (p.Thr311=)Hereditary cancer-predisposing syndrome [RCV002371662]|Multiple endocrine neoplasia, type 1 [RCV003100148]benign|likely benign116480634864806348Human2name
155729073CV1828980single nucleotide variantNM_001370259.2(MEN1):c.990C>G (p.Arg330=)Hereditary cancer-predisposing syndrome [RCV002382788]|Multiple endocrine neoplasia, type 1 [RCV003631255]benign|likely benign116480629164806291Human2name
156402453CV1889347single nucleotide variantNM_001370259.2(MEN1):c.417C>T (p.His139=)Multiple endocrine neoplasia, type 1 [RCV003069294]benign|likely benign116480969364809693Human1name
156272714CV1899538single nucleotide variantNM_001370259.2(MEN1):c.420C>T (p.Ile140=)Multiple endocrine neoplasia, type 1 [RCV003086842]benign|likely benign116480969064809690Human1name
156444652CV1948379single nucleotide variantNM_001370259.2(MEN1):c.942G>A (p.Arg314=)Multiple endocrine neoplasia, type 1 [RCV003115577]likely benign116480633964806339Human1name
10056864CV197515single nucleotide variantNM_130799.2(MEN1):c.1724T>A (p.Ile575Asn)not provided [RCV000182427]pathogenic116480444364804443Humanname
10056892CV197560duplicationNM_001370259.2(MEN1):c.164dup (p.Thr56fs)not provided [RCV000182458]pathogenic116480994564809946Humanname
10056869CV197561duplicationNM_001370259.2(MEN1):c.147dup (p.Val50fs)not provided [RCV000182432]pathogenic116480996264809963Humanname
10056844CV197564single nucleotide variantNM_001370259.2(MEN1):c.85C>T (p.Arg29Ter)Hereditary cancer-predisposing syndrome [RCV000491222]|Multiple endocrine neoplasia, type 1 [RCV000474533]pathogenic116481002564810025Human2name
10056843CV197568single nucleotide variantNM_001370259.2(MEN1):c.35C>T (p.Pro12Leu)Multiple endocrine neoplasia, type 1 [RCV000538512]pathogenic|likely pathogenic116481007564810075Human1name
156287721CV2001836single nucleotide variantNM_001370259.2(MEN1):c.306C>T (p.Asp102=)Hereditary cancer-predisposing syndrome [RCV003308210]|Multiple endocrine neoplasia, type 1 [RCV002647073]benign|likely benign116480980464809804Human2name
156048349CV2027136deletionNM_001370259.2(MEN1):c.160del (p.Ile54fs)Multiple endocrine neoplasia, type 1 [RCV002736426]pathogenic116480995064809950Human1name
155939191CV2054801single nucleotide variantNM_001370259.2(MEN1):c.459C>T (p.Asp153=)Multiple endocrine neoplasia, type 1 [RCV002815574]likely benign116480808664808086Human1name
156313008CV2063548single nucleotide variantNM_001370259.2(MEN1):c.507T>G (p.Gly169=)Multiple endocrine neoplasia, type 1 [RCV002834232]likely benign116480803864808038Human1name
155969273CV2077104single nucleotide variantNM_001370259.2(MEN1):c.927C>G (p.Ala309=)Hereditary cancer-predisposing syndrome [RCV004064992]|Multiple endocrine neoplasia, type 1 [RCV002863235]likely benign116480635464806354Human2name
156234968CV2081712single nucleotide variantNM_001370259.2(MEN1):c.483G>A (p.Val161=)Multiple endocrine neoplasia, type 1 [RCV002876382]likely benign116480806264808062Human1name
155979982CV2082016single nucleotide variantNM_001370259.2(MEN1):c.447C>T (p.Gly149=)Multiple endocrine neoplasia, type 1 [RCV002863723]likely benign116480809864808098Human1name
156063693CV2096373single nucleotide variantNM_001370259.2(MEN1):c.885G>A (p.Arg295=)Multiple endocrine neoplasia, type 1 [RCV002886590]likely benign116480703864807038Human1name
156127515CV2100645deletionNM_001370259.2(MEN1):c.195del (p.Ser66fs)Multiple endocrine neoplasia, type 1 [RCV002889811]pathogenic116480991564809915Human1name
156255917CV2117267single nucleotide variantNM_001370259.2(MEN1):c.606C>A (p.Gly202=)Multiple endocrine neoplasia, type 1 [RCV002933713]likely benign116480793964807939Human1name
10407402CV212945single nucleotide variantNM_001370259.2(MEN1):c.762G>A (p.Leu254=)Hereditary cancer-predisposing syndrome [RCV000491869]|Hyperparathyroidism [RCV001103406]|Multiple endocrine neoplasia, type 1 [RCV000196618]|not provided [RCV001092063]|not specified [RCV002271458]benign|likely benign|uncertain significance116480757364807573Human4name
10407665CV212946single nucleotide variantNM_001370259.2(MEN1):c.759G>T (p.Ser253=)Hereditary cancer-predisposing syndrome [RCV000568935]|Multiple endocrine neoplasia, type 1 [RCV000199841]likely benign116480757664807576Human2name
10407495CV212949single nucleotide variantNM_001370259.2(MEN1):c.339C>T (p.Ser113=)Hereditary cancer-predisposing syndrome [RCV000570477]|Multiple endocrine neoplasia, type 1 [RCV000197663]benign|likely benign116480977164809771Human2name
11051485CV213769deletionNM_001370259.2(MEN1):c.152del (p.Asn51fs)Primary hyperparathyroidism [RCV000210355]pathogenic116480995864809958Human2name
156163688CV2159107single nucleotide variantNM_001370259.2(MEN1):c.99C>G (p.Asp33Glu)Multiple endocrine neoplasia, type 1 [RCV003023285]likely pathogenic|uncertain significance116481001164810011Human1name
155985993CV2159700single nucleotide variantNM_001370259.2(MEN1):c.894A>C (p.Pro298=)Multiple endocrine neoplasia, type 1 [RCV003034098]benign|likely benign116480702964807029Human1name
156321061CV2166511deletionNM_001370259.2(MEN1):c.241del (p.Ala81fs)Multiple endocrine neoplasia, type 1 [RCV003029164]pathogenic116480986964809869Human1name
156371917CV2174656single nucleotide variantNM_001370259.2(MEN1):c.29T>C (p.Leu10Pro)Multiple endocrine neoplasia, type 1 [RCV003049771]uncertain significance116481008164810081Human1name
156331534CV2181086single nucleotide variantNM_001370259.2(MEN1):c.825G>A (p.Arg275=)Multiple endocrine neoplasia, type 1 [RCV003047246]uncertain significance116480709864807098Human1name
10768334CV222162single nucleotide variantNM_001370259.2(MEN1):c.621G>A (p.Arg207=)Hereditary cancer-predisposing syndrome [RCV002363025]|Multiple endocrine neoplasia, type 1 [RCV001487021]benign|likely benign116480792464807924Human2name
10767415CV222163single nucleotide variantNM_001370259.2(MEN1):c.585G>A (p.Glu195=)Hereditary cancer-predisposing syndrome [RCV004943772]|Multiple endocrine neoplasia, type 1 [RCV000204677]likely benign116480796064807960Human2name
10767192CV222164single nucleotide variantNM_001370259.2(MEN1):c.513G>C (p.Arg171=)Hereditary cancer-predisposing syndrome [RCV001023601]|MEN1-related disorder [RCV004748658]|Multiple endocrine neoplasia, type 1 [RCV000204302]benign|likely benign116480803264808032Human3name , alternate_id
11346906CV241183single nucleotide variantNM_001370259.2(MEN1):c.909C>T (p.His303=)Hereditary cancer-predisposing syndrome [RCV002444926]|MEN1-related disorder [RCV003977689]|Multiple endocrine neoplasia, type 1 [RCV000230220]benign|likely benign116480701464807014Human3name , alternate_id
11348358CV241184single nucleotide variantNM_001370259.2(MEN1):c.837C>T (p.Ala279=)Hereditary cancer-predisposing syndrome [RCV001017650]|Multiple endocrine neoplasia, type 1 [RCV000226318]benign|likely benign116480708664807086Human2name
11347511CV241185single nucleotide variantNM_001370259.2(MEN1):c.819G>T (p.Leu273=)Hereditary cancer-predisposing syndrome [RCV001027267]|Multiple endocrine neoplasia, type 1 [RCV000232403]likely benign|conflicting interpretations of pathogenicity116480718464807184Human2name
11347320CV241188single nucleotide variantNM_001370259.2(MEN1):c.759G>A (p.Ser253=)Hereditary cancer-predisposing syndrome [RCV001026605]|Multiple endocrine neoplasia, type 1 [RCV000231807]benign|likely benign116480757664807576Human2name
11346160CV241194single nucleotide variantNM_001370259.2(MEN1):c.639C>T (p.Ala213=)Hereditary cancer-predisposing syndrome [RCV000562641]|MEN1-related disorder [RCV004748677]|Multiple endocrine neoplasia, type 1 [RCV000227531]likely pathogenic|benign|likely benign116480790664807906Human3name , alternate_id
11345966CV241197single nucleotide variantNM_001370259.2(MEN1):c.531G>A (p.Leu177=)Hereditary cancer-predisposing syndrome [RCV000491307]|Multiple endocrine neoplasia, type 1 [RCV000226931]|not specified [RCV000254470]benign|likely benign116480801464808014Human2name
11350041CV241198single nucleotide variantNM_001370259.2(MEN1):c.471G>A (p.Val157=)Hereditary cancer-predisposing syndrome [RCV000572540]|Multiple endocrine neoplasia, type 1 [RCV000233035]benign|likely benign116480807464808074Human2name
11346916CV241199single nucleotide variantNM_001370259.2(MEN1):c.441C>T (p.Ile147=)Hereditary cancer-predisposing syndrome [RCV002327146]|Multiple endocrine neoplasia, type 1 [RCV000230248]likely benign116480966964809669Human2name
329368520CV2426168single nucleotide variantNM_001370259.2(MEN1):c.83G>A (p.Gly28Asp)Hereditary cancer-predisposing syndrome [RCV003171361]uncertain significance116481002764810027Human1name
329384620CV2426194single nucleotide variantNM_001370259.2(MEN1):c.70G>A (p.Ala24Thr)Hereditary cancer-predisposing syndrome [RCV003176788]uncertain significance116481004064810040Human1name
401753779CV2716883single nucleotide variantNM_001370259.2(MEN1):c.915C>T (p.Gly305=)Hereditary cancer-predisposing syndrome [RCV003296298]|Multiple endocrine neoplasia, type 1 [RCV004009695]benign|likely benign116480636664806366Human2name
401783912CV2720852single nucleotide variantNM_001370259.2(MEN1):c.876C>A (p.Thr292=)Hereditary cancer-predisposing syndrome [RCV003310059]likely benign116480704764807047Human1name
401781019CV2734116single nucleotide variantNM_001370259.2(MEN1):c.927C>T (p.Ala309=)Hereditary cancer-predisposing syndrome [RCV003288353]|Multiple endocrine neoplasia, type 1 [RCV005249486]benign|likely benign116480635464806354Human2name
401756557CV2734129single nucleotide variantNM_001370259.2(MEN1):c.879T>G (p.Pro293=)Hereditary cancer-predisposing syndrome [RCV003297345]likely benign116480704464807044Human1name
401756558CV2734130single nucleotide variantNM_001370259.2(MEN1):c.801C>A (p.Leu267=)Hereditary cancer-predisposing syndrome [RCV003297346]likely benign116480720264807202Human1name
401756565CV2734133single nucleotide variantNM_001370259.2(MEN1):c.46A>C (p.Ile16Leu)Hereditary cancer-predisposing syndrome [RCV003297349]uncertain significance116481006464810064Human1name
401781045CV2734134single nucleotide variantNM_001370259.2(MEN1):c.31T>G (p.Phe11Val)Hereditary cancer-predisposing syndrome [RCV003288363]uncertain significance116481007964810079Human1name
401781063CV2734142single nucleotide variantNM_001370259.2(MEN1):c.432C>T (p.Phe144=)Hereditary cancer-predisposing syndrome [RCV003288370]likely benign116480967864809678Human1name
405041074CV2859962single nucleotide variantNM_001370259.2(MEN1):c.531G>C (p.Leu177=)Multiple endocrine neoplasia, type 1 [RCV003518021]likely benign116480801464808014Human1name
405037269CV2861290single nucleotide variantNM_001370259.2(MEN1):c.97G>C (p.Asp33His)Multiple endocrine neoplasia, type 1 [RCV003517588]likely pathogenic116481001364810013Human1name
405040223CV2865488single nucleotide variantNM_001370259.2(MEN1):c.429C>A (p.Leu143=)Multiple endocrine neoplasia, type 1 [RCV003517931]likely benign116480968164809681Human1name
405041924CV2877366single nucleotide variantNM_001370259.2(MEN1):c.429C>G (p.Leu143=)Multiple endocrine neoplasia, type 1 [RCV003518075]benign|likely benign116480968164809681Human1name
405047032CV2886175single nucleotide variantNM_001370259.2(MEN1):c.97G>T (p.Asp33Tyr)Hereditary cancer-predisposing syndrome [RCV004943087]|Multiple endocrine neoplasia, type 1 [RCV003518531]likely pathogenic116481001364810013Human2name
405046894CV2888984single nucleotide variantNM_001370259.2(MEN1):c.54C>A (p.Asp18Glu)Multiple endocrine neoplasia, type 1 [RCV003518518]uncertain significance116481005664810056Human1name
405030290CV2896885single nucleotide variantNM_001370259.2(MEN1):c.603G>A (p.Lys201=)Multiple endocrine neoplasia, type 1 [RCV003516761]likely benign116480794264807942Human1name
405031600CV2912545single nucleotide variantNM_001370259.2(MEN1):c.873C>T (p.Pro291=)Multiple endocrine neoplasia, type 1 [RCV003516884]benign|likely benign116480705064807050Human1name
405032922CV2920042single nucleotide variantNM_001370259.2(MEN1):c.882C>T (p.Gly294=)Multiple endocrine neoplasia, type 1 [RCV003516971]likely benign116480704164807041Human1name
405034260CV2921559single nucleotide variantNM_001370259.2(MEN1):c.64C>A (p.Leu22Met)Multiple endocrine neoplasia, type 1 [RCV003517090]likely pathogenic116481004664810046Human1name
405039924CV2923582single nucleotide variantNM_001370259.2(MEN1):c.46A>T (p.Ile16Phe)Multiple endocrine neoplasia, type 1 [RCV003517779]uncertain significance116481006464810064Human1name
405038030CV2928699single nucleotide variantNM_001370259.2(MEN1):c.519C>G (p.Val173=)Multiple endocrine neoplasia, type 1 [RCV003517676]likely benign116480802664808026Human1name
405038729CV2932467single nucleotide variantNM_001370259.2(MEN1):c.59T>G (p.Val20Gly)Multiple endocrine neoplasia, type 1 [RCV003517751]uncertain significance116481005164810051Human1name
405052918CV2954443single nucleotide variantNM_001370259.2(MEN1):c.498G>A (p.Gln166=)Multiple endocrine neoplasia, type 1 [RCV003631494]likely benign116480804764808047Human1name
405054005CV2964356single nucleotide variantNM_001370259.2(MEN1):c.630A>G (p.Thr210=)Multiple endocrine neoplasia, type 1 [RCV003631611]likely benign116480791564807915Human1name
405053927CV2971430single nucleotide variantNM_001370259.2(MEN1):c.883C>A (p.Arg295=)Multiple endocrine neoplasia, type 1 [RCV003631605]likely benign116480704064807040Human1name
405055099CV2980570single nucleotide variantNM_001370259.2(MEN1):c.454T>C (p.Leu152=)Multiple endocrine neoplasia, type 1 [RCV003631719]likely benign116480809164808091Human1name
405055863CV2982492single nucleotide variantNM_001370259.2(MEN1):c.654G>A (p.Arg218=)Multiple endocrine neoplasia, type 1 [RCV003631791]uncertain significance116480789164807891Human1name
405057368CV2995756single nucleotide variantNM_001370259.2(MEN1):c.561G>A (p.Gly187=)Multiple endocrine neoplasia, type 1 [RCV003631917]likely benign116480798464807984Human1name
405057708CV2999680single nucleotide variantNM_001370259.2(MEN1):c.41G>C (p.Arg14Pro)Multiple endocrine neoplasia, type 1 [RCV003631946]uncertain significance116481006964810069Human1name
405058415CV2999786deletionNM_001370259.2(MEN1):c.1050-34_1050-14delMultiple endocrine neoplasia, type 1 [RCV003631947]conflicting interpretations of pathogenicity|uncertain significance116480578464805804Human1name
405059422CV3005851single nucleotide variantNM_001370259.2(MEN1):c.759G>C (p.Ser253=)Multiple endocrine neoplasia, type 1 [RCV003632080]likely benign116480757664807576Human1name
405059150CV3012325single nucleotide variantNM_001370259.2(MEN1):c.675A>T (p.Gly225=)Multiple endocrine neoplasia, type 1 [RCV003632058]conflicting interpretations of pathogenicity|uncertain significance116480766064807660Human1name
405060299CV3021697single nucleotide variantNM_001370259.2(MEN1):c.510C>T (p.Leu170=)Multiple endocrine neoplasia, type 1 [RCV003632186]likely benign116480803564808035Human1name
405061568CV3031768single nucleotide variantNM_001370259.2(MEN1):c.843G>A (p.Gly281=)Hereditary cancer-predisposing syndrome [RCV004943192]|Multiple endocrine neoplasia, type 1 [RCV003632307]likely benign116480708064807080Human2name
405063096CV3041130single nucleotide variantNM_001370259.2(MEN1):c.720G>A (p.Val240=)Multiple endocrine neoplasia, type 1 [RCV003632343]benign|likely benign116480761564807615Human1name
405064656CV3057523single nucleotide variantNM_001370259.2(MEN1):c.351G>A (p.Leu117=)Multiple endocrine neoplasia, type 1 [RCV003632625]benign|likely benign116480975964809759Human1name
405066819CV3072745single nucleotide variantNM_001370259.2(MEN1):c.55G>C (p.Val19Leu)Multiple endocrine neoplasia, type 1 [RCV003632772]uncertain significance116481005564810055Human1name
405145356CV3122733single nucleotide variantNM_001370259.2(MEN1):c.939T>C (p.Tyr313=)Multiple endocrine neoplasia, type 1 [RCV003817155]likely benign116480634264806342Human1name
402471513CV3171580single nucleotide variantNM_001370259.2(MEN1):c.450C>T (p.Thr150=)Hereditary cancer-predisposing syndrome [RCV005363303]|Multiple endocrine neoplasia, type 1 [RCV003874364]benign|likely benign116480809564808095Human2name
8565749CV31716single nucleotide variantNM_001370259.2(MEN1):c.65T>G (p.Leu22Arg)Multiple endocrine neoplasia, type 1 [RCV000018157]|not provided [RCV000182402]pathogenic|likely pathogenic116481004564810045Human1name
8565759CV31728single nucleotide variantNM_001370259.2(MEN1):c.76G>A (p.Glu26Lys)Multiple endocrine neoplasia, type 1 [RCV000817082]|Parathyroid adenoma, somatic [RCV000018169]|not provided [RCV000490040]pathogenic|likely pathogenic|uncertain significance|other116481003464810034Human2name
405741181CV3229180single nucleotide variantNM_001370259.2(MEN1):c.41G>T (p.Arg14Leu)Multiple endocrine neoplasia, type 1 [RCV004014923]uncertain significance116481006964810069Human1name
405749174CV3233773single nucleotide variantNM_001370259.2(MEN1):c.29T>A (p.Leu10Gln)Multiple endocrine neoplasia, type 1 [RCV004016001]uncertain significance116481008164810081Human1name
405746337CV3234783single nucleotide variantNM_001370259.2(MEN1):c.441C>A (p.Ile147=)Multiple endocrine neoplasia, type 1 [RCV004015657]likely benign116480966964809669Human1name
11616911CV327399single nucleotide variantNM_001370259.2(MEN1):c.61C>A (p.Arg21Ser)Hereditary cancer-predisposing syndrome [RCV000563926]|Hyperparathyroidism [RCV000396094]|Multiple endocrine neoplasia, type 1 [RCV000864930]|not provided [RCV001770241]|not specified [RCV004586674]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance116481004964810049Human4name
405712616CV3382234single nucleotide variantNM_001370259.2(MEN1):c.363C>G (p.Val121=)Hereditary cancer-predisposing syndrome [RCV004522718]|Multiple endocrine neoplasia, type 1 [RCV005249681]benign|likely benign116480974764809747Human2name
405712680CV3382242single nucleotide variantNM_001370259.2(MEN1):c.53A>T (p.Asp18Val)Hereditary cancer-predisposing syndrome [RCV004522726]uncertain significance116481005764810057Human1name
405712693CV3382244single nucleotide variantNM_001370259.2(MEN1):c.62G>T (p.Arg21Leu)Hereditary cancer-predisposing syndrome [RCV004522728]uncertain significance116481004864810048Human1name
405712725CV3382248single nucleotide variantNM_001370259.2(MEN1):c.79C>A (p.Leu27Met)Hereditary cancer-predisposing syndrome [RCV004522732]uncertain significance116481003164810031Human1name
405713345CV3382251single nucleotide variantNM_001370259.2(MEN1):c.888A>C (p.Pro296=)Hereditary cancer-predisposing syndrome [RCV004522735]likely benign116480703564807035Human1name
405712783CV3382255single nucleotide variantNM_001370259.2(MEN1):c.940C>A (p.Arg314=)Hereditary cancer-predisposing syndrome [RCV004522739]likely benign116480634164806341Human1name
407502696CV3449849single nucleotide variantNM_001370259.2(MEN1):c.768T>C (p.Leu256=)Hereditary cancer-predisposing syndrome [RCV004645235]likely benign116480756764807567Human1name
407502720CV3449859single nucleotide variantNM_001370259.2(MEN1):c.855T>C (p.Asp285=)Hereditary cancer-predisposing syndrome [RCV004645243]likely benign116480706864807068Human1name
407502766CV3449876deletionNM_001370259.2(MEN1):c.262del (p.Ala88fs)Hereditary cancer-predisposing syndrome [RCV004645257]pathogenic116480984864809848Human1name
407502786CV3449885single nucleotide variantNM_001370259.2(MEN1):c.747G>A (p.Leu249=)Hereditary cancer-predisposing syndrome [RCV004645264]likely benign116480758864807588Human1name
596941297CV3546160single nucleotide variantNM_001370259.2(MEN1):c.93G>C (p.Glu31Asp)Multiple endocrine neoplasia, type 1 [RCV004806789]uncertain significance116481001764810017Human1name
596941305CV3546162single nucleotide variantNM_001370259.2(MEN1):c.41G>A (p.Arg14His)Multiple endocrine neoplasia, type 1 [RCV004806791]uncertain significance116481006964810069Human1name
596941309CV3546163single nucleotide variantNM_001370259.2(MEN1):c.28C>G (p.Leu10Val)Multiple endocrine neoplasia, type 1 [RCV004806792]uncertain significance116481008264810082Human1name
596938341CV3550184duplicationNM_001370259.2(MEN1):c.253dup (p.Ile85fs)Multiple endocrine neoplasia, type 1 [RCV004813486]likely pathogenic116480985664809857Human1name
597649994CV3556605single nucleotide variantNM_001370259.2(MEN1):c.62G>A (p.Arg21His)Hereditary cancer-predisposing syndrome [RCV004943341]|Multiple endocrine neoplasia, type 1 [RCV005061473]uncertain significance116481004864810048Human2name
597650354CV3556625deletionNM_001370259.2(MEN1):c.292del (p.Arg98fs)Hereditary cancer-predisposing syndrome [RCV004943360]|Multiple endocrine neoplasia, type 1 [RCV005363370]pathogenic116480981864809818Human2name
597650317CV3556630single nucleotide variantNM_001370259.2(MEN1):c.372C>T (p.Val124=)Hereditary cancer-predisposing syndrome [RCV004943365]likely benign116480973864809738Human1name
597650016CV3556633single nucleotide variantNM_001370259.2(MEN1):c.819G>A (p.Leu273=)Hereditary cancer-predisposing syndrome [RCV004943368]|Multiple endocrine neoplasia, type 1 [RCV005107492]likely benign116480718464807184Human2name
597650052CV3556637single nucleotide variantNM_001370259.2(MEN1):c.831C>A (p.Pro277=)Hereditary cancer-predisposing syndrome [RCV004943372]likely benign116480709264807092Human1name
597650079CV3556640single nucleotide variantNM_001370259.2(MEN1):c.837C>A (p.Ala279=)Hereditary cancer-predisposing syndrome [RCV004943375]|Multiple endocrine neoplasia, type 1 [RCV005107495]likely benign116480708664807086Human2name
597648883CV3556641single nucleotide variantNM_001370259.2(MEN1):c.753C>G (p.Thr251=)Hereditary cancer-predisposing syndrome [RCV004943376]|not provided [RCV005000589]likely benign|uncertain significance116480758264807582Human1name
597650098CV3556643single nucleotide variantNM_001370259.2(MEN1):c.951C>T (p.His317=)Hereditary cancer-predisposing syndrome [RCV004943378]|Multiple endocrine neoplasia, type 1 [RCV005107496]likely benign116480633064806330Human2name
597650122CV3556646single nucleotide variantNM_001370259.2(MEN1):c.309G>C (p.Leu103=)Hereditary cancer-predisposing syndrome [RCV004943381]likely benign116480980164809801Human1name
597650130CV3556647single nucleotide variantNM_001370259.2(MEN1):c.813A>G (p.Gly271=)Hereditary cancer-predisposing syndrome [RCV004943382]likely benign116480719064807190Human1name
597650272CV3556665single nucleotide variantNM_001370259.2(MEN1):c.816T>C (p.His272=)Hereditary cancer-predisposing syndrome [RCV004943399]likely benign116480718764807187Human1name
12742113CV359899deletionNM_001370259.2(MEN1):c.207del (p.Asp70fs)Multiple endocrine neoplasia, type 1 [RCV003517187]|not provided [RCV000412904]pathogenic116480990364809903Human1name
597946137CV3755505single nucleotide variantNM_001370259.2(MEN1):c.654G>C (p.Arg218=)Multiple endocrine neoplasia, type 1 [RCV005078514]uncertain significance116480789164807891Human1name
597864794CV3767100single nucleotide variantNM_001370259.2(MEN1):c.33C>A (p.Phe11Leu)Multiple endocrine neoplasia, type 1 [RCV005106622]uncertain significance116481007764810077Human1name
597950633CV3768691single nucleotide variantNM_001370259.2(MEN1):c.384C>T (p.Ser128=)Multiple endocrine neoplasia, type 1 [RCV005120877]likely benign116480972664809726Human1name
597901993CV3771447duplicationNM_001370259.2(MEN1):c.207dup (p.Asp70fs)Multiple endocrine neoplasia, type 1 [RCV005112412]pathogenic116480990264809903Human1name
597894343CV3785574single nucleotide variantNM_001370259.2(MEN1):c.393C>A (p.Arg131=)Multiple endocrine neoplasia, type 1 [RCV005126160]likely benign116480971764809717Human1name
597972377CV3794193single nucleotide variantNM_001370259.2(MEN1):c.477T>C (p.Phe159=)Multiple endocrine neoplasia, type 1 [RCV005142559]likely benign116480806864808068Human1name
597916924CV3841996single nucleotide variantNM_001370259.2(MEN1):c.663G>A (p.Leu221=)Hereditary cancer-predisposing syndrome [RCV005379799]|Multiple endocrine neoplasia, type 1 [RCV005183671]likely benign116480767264807672Human2name
597915403CV3851242single nucleotide variantNM_001370259.2(MEN1):c.636T>C (p.Asn212=)Multiple endocrine neoplasia, type 1 [RCV005204210]likely benign116480790964807909Human1name
598122531CV3884462single nucleotide variantNM_001370259.2(MEN1):c.80T>C (p.Leu27Pro)not specified [RCV005237154]uncertain significance116481003064810030Humanname
598121335CV3889359single nucleotide variantNM_001370259.2(MEN1):c.327A>G (p.Glu109=)Multiple endocrine neoplasia, type 1 [RCV005246468]benign116480978364809783Human1name
598121380CV3889403single nucleotide variantNM_001370259.2(MEN1):c.957C>T (p.Tyr319=)Hereditary cancer-predisposing syndrome [RCV005379867]|Multiple endocrine neoplasia, type 1 [RCV005246512]benign|likely benign116480632464806324Human2name
598121417CV3889440single nucleotide variantNM_001370259.2(MEN1):c.372C>A (p.Val124=)Multiple endocrine neoplasia, type 1 [RCV005246549]benign116480973864809738Human1name
598121421CV3889444single nucleotide variantNM_001370259.2(MEN1):c.726C>G (p.Ala242=)Multiple endocrine neoplasia, type 1 [RCV005246553]benign116480760964807609Human1name
598121424CV3889447indelNM_001370259.2(MEN1):c.654+4_654+5delinsAMultiple endocrine neoplasia, type 1 [RCV005246556]likely benign116480788664807887Humanname
598121439CV3889462single nucleotide variantNM_001370259.2(MEN1):c.970C>T (p.Leu324=)Multiple endocrine neoplasia, type 1 [RCV005246571]benign116480631164806311Human1name
598121446CV3889469single nucleotide variantNM_001370259.2(MEN1):c.333T>A (p.Gly111=)Multiple endocrine neoplasia, type 1 [RCV005246578]benign116480977764809777Human1name
598121565CV3889588single nucleotide variantNM_001370259.2(MEN1):c.687C>G (p.Arg229=)Multiple endocrine neoplasia, type 1 [RCV005247690]benign116480764864807648Human1name
598121595CV3889618single nucleotide variantNM_001370259.2(MEN1):c.831C>G (p.Pro277=)Multiple endocrine neoplasia, type 1 [RCV005247720]benign116480709264807092Human1name
598121613CV3889636single nucleotide variantNM_001370259.2(MEN1):c.513G>A (p.Arg171=)Multiple endocrine neoplasia, type 1 [RCV005247738]benign116480803264808032Human1name
598121636CV3889659single nucleotide variantNM_001370259.2(MEN1):c.330G>A (p.Gly110=)Multiple endocrine neoplasia, type 1 [RCV005247761]benign116480978064809780Human1name
12890132CV398291single nucleotide variantNM_001370259.2(MEN1):c.921C>T (p.Ala307=)Hereditary cancer-predisposing syndrome [RCV004943910]|Multiple endocrine neoplasia, type 1 [RCV000474055]likely benign116480636064806360Human2name
12883376CV398294single nucleotide variantNM_001370259.2(MEN1):c.843G>C (p.Gly281=)Hereditary cancer-predisposing syndrome [RCV000569444]|MEN1-related disorder [RCV003932715]|Multiple endocrine neoplasia, type 1 [RCV000461482]benign|likely benign116480708064807080Human3name , alternate_id
12880755CV398300single nucleotide variantNM_001370259.2(MEN1):c.828C>T (p.Tyr276=)Hereditary cancer-predisposing syndrome [RCV000562412]|Multiple endocrine neoplasia, type 1 [RCV000456598]benign|likely benign116480709564807095Human2name
12889950CV398322single nucleotide variantNM_001370259.2(MEN1):c.570G>A (p.Gly190=)Hereditary cancer-predisposing syndrome [RCV000564641]|Hyperparathyroidism [RCV001105329]|Multiple endocrine neoplasia, type 1 [RCV000473714]|not specified [RCV001821300]likely benign|conflicting interpretations of pathogenicity|uncertain significance116480797564807975Human4name
12890702CV398324single nucleotide variantNM_001370259.2(MEN1):c.525C>T (p.Leu175=)Hereditary cancer-predisposing syndrome [RCV000571355]|Multiple endocrine neoplasia, type 1 [RCV000475141]|not provided [RCV003311820]|not specified [RCV005239040]benign|likely benign116480802064808020Human2name
12881536CV398330single nucleotide variantNM_001370259.2(MEN1):c.426C>T (p.Ser142=)Hereditary cancer-predisposing syndrome [RCV002329087]|Multiple endocrine neoplasia, type 1 [RCV000458015]benign|likely benign116480968464809684Human2name
12881460CV398396single nucleotide variantNM_001370259.2(MEN1):c.993C>T (p.Asn331=)Hereditary cancer-predisposing syndrome [RCV000490867]|Multiple endocrine neoplasia, type 1 [RCV000457874]benign|likely benign116480628864806288Human2name
12885552CV398401single nucleotide variantNM_001370259.2(MEN1):c.711G>A (p.Ala237=)Hereditary cancer-predisposing syndrome [RCV000562651]|Multiple endocrine neoplasia, type 1 [RCV000465578]benign|likely benign116480762464807624Human2name
12885155CV398408single nucleotide variantNM_001370259.2(MEN1):c.375A>T (p.Ile125=)Hereditary cancer-predisposing syndrome [RCV001021065]|Multiple endocrine neoplasia, type 1 [RCV000464805]|not specified [RCV005239039]benign|likely benign116480973564809735Human2name
12886874CV398413single nucleotide variantNM_001370259.2(MEN1):c.330G>C (p.Gly110=)Multiple endocrine neoplasia, type 1 [RCV001500044]likely benign116480978064809780Human1name
598241584CV3985823single nucleotide variantNM_001370259.2(MEN1):c.648T>A (p.Ala216=)Hereditary cancer-predisposing syndrome [RCV005364839]likely benign116480789764807897Human1name
598225760CV3985837single nucleotide variantNM_001370259.2(MEN1):c.348G>A (p.Glu116=)Hereditary cancer-predisposing syndrome [RCV005380460]likely benign116480976264809762Human1name
12887438CV398733single nucleotide variantNM_001370259.2(MEN1):c.999T>C (p.Asn333=)Hereditary cancer-predisposing syndrome [RCV000563547]|Multiple endocrine neoplasia, type 1 [RCV000469063]|not specified [RCV002282163]benign|likely benign116480628264806282Human2name
12891750CV398764single nucleotide variantNM_001370259.2(MEN1):c.61C>G (p.Arg21Gly)Multiple endocrine neoplasia, type 1 [RCV000477155]uncertain significance116481004964810049Human1name
12886340CV398877single nucleotide variantNM_001370259.2(MEN1):c.753C>T (p.Thr251=)Hereditary cancer-predisposing syndrome [RCV000491168]|Hyperparathyroidism [RCV001105326]|Multiple endocrine neoplasia, type 1 [RCV001086629]|not provided [RCV000828127]benign|likely benign|uncertain significance116480758264807582Human4name
12892869CV398892deletionNM_001370259.2(MEN1):c.168del (p.Asn57fs)Multiple endocrine neoplasia, type 1 [RCV000460562]|not provided [RCV000486690]pathogenic|likely pathogenic116480994264809942Human1name
12884703CV398893single nucleotide variantNM_001370259.2(MEN1):c.94C>T (p.Pro32Ser)Hereditary cancer-predisposing syndrome [RCV000562829]|Multiple endocrine neoplasia, type 1 [RCV000463945]|not provided [RCV003329276]likely benign|conflicting interpretations of pathogenicity|uncertain significance116481001664810016Human2name
12881769CV398894single nucleotide variantNM_001370259.2(MEN1):c.92A>T (p.Glu31Val)Hereditary cancer-predisposing syndrome [RCV001019129]|Multiple endocrine neoplasia, type 1 [RCV000458419]|not provided [RCV004772908]conflicting interpretations of pathogenicity|uncertain significance116481001864810018Human2name
12895485CV408414duplicationNM_001370259.2(MEN1):c.105dup (p.Leu36fs)Multiple endocrine neoplasia, type 1 [RCV001851251]|not provided [RCV000486614]pathogenic|likely pathogenic116481000464810005Human1name
12912110CV419838single nucleotide variantNM_001370259.2(MEN1):c.600C>T (p.Gly200=)Hereditary cancer-predisposing syndrome [RCV000490929]uncertain significance116480794564807945Human1name
12912438CV419857deletionNM_001370259.2(MEN1):c.265del (p.Leu89fs)Hereditary cancer-predisposing syndrome [RCV000491674]pathogenic116480984564809845Human1name
12912344CV419858deletionNM_001370259.2(MEN1):c.237del (p.Val80fs)Hereditary cancer-predisposing syndrome [RCV000491464]|Multiple endocrine neoplasia, type 1 [RCV000704558]pathogenic116480987364809873Human2name
12912593CV419859deletionNM_001370259.2(MEN1):c.223del (p.Leu75fs)Hereditary cancer-predisposing syndrome [RCV000492040]|not provided [RCV005230958]pathogenic116480988764809887Human1name
12912540CV419863single nucleotide variantNM_001370259.2(MEN1):c.32T>C (p.Phe11Ser)Hereditary cancer-predisposing syndrome [RCV000491909]uncertain significance116481007864810078Human1name
8569652CV45190duplicationNM_001370259.2(MEN1):c.252dup (p.Ile85fs)Multiple endocrine neoplasia, type 1 [RCV000030201]pathogenic|likely pathogenic116480985764809858Human1name
8569655CV45193single nucleotide variantNM_001370259.2(MEN1):c.492C>T (p.Ala164=)Hereditary cancer-predisposing syndrome [RCV001023275]|Multiple endocrine neoplasia, type 1 [RCV000030204]|not specified [RCV000610718]benign|likely benign|conflicting data from submitters116480805364808053Human2name
13473159CV461314single nucleotide variantNM_001370259.2(MEN1):c.720G>T (p.Val240=)Multiple endocrine neoplasia, type 1 [RCV000547687]likely benign116480761564807615Human1name
13478920CV461327single nucleotide variantNM_001370259.2(MEN1):c.303C>T (p.Val101=)Hereditary cancer-predisposing syndrome [RCV002448631]|Multiple endocrine neoplasia, type 1 [RCV000550285]benign|likely benign116480980764809807Human2name
13496781CV461484single nucleotide variantNM_001370259.2(MEN1):c.300C>G (p.Ala100=)Hereditary cancer-predisposing syndrome [RCV002438305]|Multiple endocrine neoplasia, type 1 [RCV001087349]|not provided [RCV000679257]|not specified [RCV000613769]benign|likely benign116480981064809810Human2name
13479915CV461810single nucleotide variantNM_001370259.2(MEN1):c.978C>T (p.Gly326=)Hereditary cancer-predisposing syndrome [RCV002384059]|Multiple endocrine neoplasia, type 1 [RCV000550736]likely benign116480630364806303Human2name
13494463CV461843single nucleotide variantNM_001370259.2(MEN1):c.729C>T (p.Ile243=)Hereditary cancer-predisposing syndrome [RCV003159748]|Multiple endocrine neoplasia, type 1 [RCV000536420]benign|likely benign116480760664807606Human2name
13476282CV462168single nucleotide variantNM_001370259.2(MEN1):c.856C>T (p.Leu286=)Hereditary cancer-predisposing syndrome [RCV000574622]|Multiple endocrine neoplasia, type 1 [RCV000556338]|not provided [RCV004767335]benign|likely benign|uncertain significance116480706764807067Human2name
13479809CV462175single nucleotide variantNM_001370259.2(MEN1):c.726C>T (p.Ala242=)Hereditary cancer-predisposing syndrome [RCV002384058]|Multiple endocrine neoplasia, type 1 [RCV000528262]benign|likely benign116480760964807609Human2name
13495453CV462178single nucleotide variantNM_001370259.2(MEN1):c.618C>T (p.Arg206=)Multiple endocrine neoplasia, type 1 [RCV000559647]likely benign|uncertain significance116480792764807927Human1name
13498814CV462185single nucleotide variantNM_001370259.2(MEN1):c.465C>T (p.Ser155=)Hereditary cancer-predisposing syndrome [RCV001022861]|Multiple endocrine neoplasia, type 1 [RCV000539439]benign|likely benign116480808064808080Human2name
13498075CV475979single nucleotide variantNM_001370259.2(MEN1):c.516T>C (p.Asp172=)Hereditary cancer-predisposing syndrome [RCV000573168]|Multiple endocrine neoplasia, type 1 [RCV000894832]likely benign116480802964808029Human2name
13491651CV476481single nucleotide variantNM_001370259.2(MEN1):c.609C>T (p.Asn203=)Hereditary cancer-predisposing syndrome [RCV000570189]|Multiple endocrine neoplasia, type 1 [RCV000632152]benign|likely benign116480793664807936Human2name
13614624CV526374single nucleotide variantNM_001370259.2(MEN1):c.369T>C (p.Asp123=)Multiple endocrine neoplasia, type 1 [RCV000632171]likely benign116480974164809741Human1name
13614629CV526376single nucleotide variantNM_001370259.2(MEN1):c.345T>C (p.Arg115=)Hereditary cancer-predisposing syndrome [RCV002458003]|MEN1-related disorder [RCV003945585]|Multiple endocrine neoplasia, type 1 [RCV000632174]benign|likely benign116480976564809765Human3name , alternate_id
13614591CV526378single nucleotide variantNM_001370259.2(MEN1):c.307C>T (p.Leu103=)Hereditary cancer-predisposing syndrome [RCV002319543]|Multiple endocrine neoplasia, type 1 [RCV000632147]likely benign116480980364809803Human2name
13614633CV526383single nucleotide variantNM_001370259.2(MEN1):c.963C>T (p.Tyr321=)Hereditary cancer-predisposing syndrome [RCV001019580]|Multiple endocrine neoplasia, type 1 [RCV000632177]|not provided [RCV005000403]benign|likely benign|uncertain significance116480631864806318Human2name
13614525CV526392single nucleotide variantNM_001370259.2(MEN1):c.71C>T (p.Ala24Val)Hereditary cancer-predisposing syndrome [RCV002377360]|Multiple endocrine neoplasia, type 1 [RCV000632091]conflicting interpretations of pathogenicity|uncertain significance116481003964810039Human2name
13614626CV526403single nucleotide variantNM_001370259.2(MEN1):c.375A>C (p.Ile125=)Multiple endocrine neoplasia, type 1 [RCV000632172]likely benign116480973564809735Human1name
13614519CV526427single nucleotide variantNM_001370259.2(MEN1):c.92A>G (p.Glu31Gly)Multiple endocrine neoplasia, type 1 [RCV000632084]uncertain significance116481001864810018Human1name
13614627CV526668single nucleotide variantNM_001370259.2(MEN1):c.333T>C (p.Gly111=)Multiple endocrine neoplasia, type 1 [RCV000632173]likely benign116480977764809777Human1name
13614561CV526681deletionNM_001370259.2(MEN1):c.142del (p.Leu48fs)Multiple endocrine neoplasia, type 1 [RCV000632124]pathogenic116480996864809968Human1name
13614614CV526898single nucleotide variantNM_001370259.2(MEN1):c.474C>T (p.Ala158=)Hereditary cancer-predisposing syndrome [RCV002331118]|Multiple endocrine neoplasia, type 1 [RCV000632164]benign|likely benign116480807164808071Human2name
13614563CV526919single nucleotide variantNM_001370259.2(MEN1):c.49G>A (p.Asp17Asn)Hereditary cancer-predisposing syndrome [RCV001023389]|Multiple endocrine neoplasia, type 1 [RCV000632125]|not provided [RCV005000402]uncertain significance116481006164810061Human2name
13822546CV566003single nucleotide variantNM_001370259.2(MEN1):c.801C>G (p.Leu267=)Hereditary cancer-predisposing syndrome [RCV002422540]|Multiple endocrine neoplasia, type 1 [RCV000697467]benign|likely benign|uncertain significance116480720264807202Human2name
13817680CV566040single nucleotide variantNM_001370259.2(MEN1):c.74C>T (p.Ala25Val)Multiple endocrine neoplasia, type 1 [RCV000707173]|not provided [RCV004997217]uncertain significance116481003664810036Human1name
13820172CV567449single nucleotide variantNM_001370259.2(MEN1):c.38T>G (p.Leu13Arg)Hereditary cancer-predisposing syndrome [RCV005367511]|Multiple endocrine neoplasia, type 1 [RCV000694774]likely pathogenic|uncertain significance116481007264810072Human2name
14708187CV640281single nucleotide variantNM_001370259.2(MEN1):c.972G>A (p.Leu324=)Multiple endocrine neoplasia, type 1 [RCV000809013]likely benign|uncertain significance116480630964806309Human1name
14721186CV640296single nucleotide variantNM_001370259.2(MEN1):c.696C>T (p.Arg232=)Hereditary cancer-predisposing syndrome [RCV003166322]|Multiple endocrine neoplasia, type 1 [RCV000813377]benign|likely benign|uncertain significance116480763964807639Human2name
14731683CV640305single nucleotide variantNM_001370259.2(MEN1):c.366C>T (p.Ser122=)Hereditary cancer-predisposing syndrome [RCV002453865]|Multiple endocrine neoplasia, type 1 [RCV000817967]benign|likely benign|uncertain significance116480974464809744Human2name
14721889CV640317single nucleotide variantNM_001370259.2(MEN1):c.40C>T (p.Arg14Cys)Hereditary cancer-predisposing syndrome [RCV002325521]|Multiple endocrine neoplasia, type 1 [RCV000797298]uncertain significance116481007064810070Human2name
14735425CV640318single nucleotide variantNM_001370259.2(MEN1):c.38T>C (p.Leu13Pro)Multiple endocrine neoplasia, type 1 [RCV000803145]uncertain significance116481007264810072Human1name
15141492CV687806single nucleotide variantNM_001370259.2(MEN1):c.981C>T (p.Tyr327=)Hereditary cancer-predisposing syndrome [RCV002372421]|Multiple endocrine neoplasia, type 1 [RCV000865369]likely benign116480630064806300Human2name
15101840CV687807single nucleotide variantNM_001370259.2(MEN1):c.642T>C (p.Gly214=)Hereditary cancer-predisposing syndrome [RCV002363263]|Multiple endocrine neoplasia, type 1 [RCV001479044]benign|likely benign116480790364807903Human2name
15200851CV724572single nucleotide variantNM_001370259.2(MEN1):c.760C>T (p.Leu254=)Hereditary cancer-predisposing syndrome [RCV001026620]|Multiple endocrine neoplasia, type 1 [RCV000891026]benign|likely benign116480757564807575Human2name
15156282CV752780single nucleotide variantNM_001370259.2(MEN1):c.861G>A (p.Glu287=)Hereditary cancer-predisposing syndrome [RCV002445030]|Multiple endocrine neoplasia, type 1 [RCV000924640]benign|likely benign116480706264807062Human2name
15159558CV752781single nucleotide variantNM_001370259.2(MEN1):c.639C>A (p.Ala213=)Multiple endocrine neoplasia, type 1 [RCV001399750]likely benign|conflicting interpretations of pathogenicity|uncertain significance116480790664807906Human1name
15158369CV752782single nucleotide variantNM_001370259.2(MEN1):c.336C>G (p.Val112=)Hereditary cancer-predisposing syndrome [RCV001020110]|Multiple endocrine neoplasia, type 1 [RCV000925056]benign|likely benign116480977464809774Human2name
15109661CV768571single nucleotide variantNM_001370259.2(MEN1):c.984C>T (p.His328=)Multiple endocrine neoplasia, type 1 [RCV000938389]benign|likely benign116480629764806297Human1name
15143898CV768572single nucleotide variantNM_001370259.2(MEN1):c.906C>T (p.Tyr302=)Multiple endocrine neoplasia, type 1 [RCV001398447]likely benign116480701764807017Human1name
15190819CV768573single nucleotide variantNM_001370259.2(MEN1):c.903C>T (p.Leu301=)Hereditary cancer-predisposing syndrome [RCV002372597]|Multiple endocrine neoplasia, type 1 [RCV001466277]likely benign|conflicting interpretations of pathogenicity116480702064807020Human2name
15116363CV768574single nucleotide variantNM_001370259.2(MEN1):c.900C>T (p.Thr300=)Hereditary cancer-predisposing syndrome [RCV002372618]|Multiple endocrine neoplasia, type 1 [RCV001489746]likely benign116480702364807023Human2name
15123211CV768575single nucleotide variantNM_001370259.2(MEN1):c.897C>T (p.Leu299=)Hereditary cancer-predisposing syndrome [RCV004629389]|Multiple endocrine neoplasia, type 1 [RCV000940816]|not specified [RCV001818913]benign|likely benign|uncertain significance116480702664807026Human2name
15172725CV768576single nucleotide variantNM_001370259.2(MEN1):c.808C>T (p.Leu270=)Hereditary cancer-predisposing syndrome [RCV002416158]|MEN1-related disorder [RCV003942884]|Multiple endocrine neoplasia, type 1 [RCV000928175]benign|likely benign116480719564807195Human3name , alternate_id
15191377CV768577single nucleotide variantNM_001370259.2(MEN1):c.741T>C (p.Ile247=)Multiple endocrine neoplasia, type 1 [RCV001460060]likely benign116480759464807594Human1name
15115546CV768578single nucleotide variantNM_001370259.2(MEN1):c.630A>C (p.Thr210=)Multiple endocrine neoplasia, type 1 [RCV001505443]likely benign116480791564807915Human1name
15194839CV768579single nucleotide variantNM_001370259.2(MEN1):c.588C>T (p.Val196=)Hereditary cancer-predisposing syndrome [RCV004639414]|Multiple endocrine neoplasia, type 1 [RCV001431451]benign|likely benign116480795764807957Human2name
15102292CV768580single nucleotide variantNM_001370259.2(MEN1):c.582T>G (p.Ala194=)Multiple endocrine neoplasia, type 1 [RCV001403320]likely benign116480796364807963Human1name
15190093CV768581single nucleotide variantNM_001370259.2(MEN1):c.411G>C (p.Arg137=)Hereditary cancer-predisposing syndrome [RCV002320115]|Multiple endocrine neoplasia, type 1 [RCV001414060]benign|likely benign116480969964809699Human2name
15202675CV768582single nucleotide variantNM_001370259.2(MEN1):c.390C>T (p.Ser130=)Hereditary cancer-predisposing syndrome [RCV001021418]|Multiple endocrine neoplasia, type 1 [RCV001462657]benign|likely benign116480972064809720Human2name
15195219CV768583single nucleotide variantNM_001370259.2(MEN1):c.312C>T (p.Ser104=)Multiple endocrine neoplasia, type 1 [RCV000933874]likely benign116480979864809798Human1name
15119377CV784074single nucleotide variantNM_001370259.2(MEN1):c.960C>G (p.Pro320=)Multiple endocrine neoplasia, type 1 [RCV001410508]likely benign116480632164806321Human1name
15114425CV784075single nucleotide variantNM_001370259.2(MEN1):c.667C>T (p.Leu223=)Multiple endocrine neoplasia, type 1 [RCV001431499]likely benign116480766864807668Human1name
15108315CV784076single nucleotide variantNM_001370259.2(MEN1):c.502C>T (p.Leu168=)Hereditary cancer-predisposing syndrome [RCV003380795]|Multiple endocrine neoplasia, type 1 [RCV001479658]likely benign116480804364808043Human2name
21405671CV799657single nucleotide variantNM_001370259.2(MEN1):c.912G>A (p.Lys304=)Hereditary cancer-predisposing syndrome [RCV001018904]|Multiple endocrine neoplasia, type 1 [RCV001000963]likely pathogenic|uncertain significance116480701164807011Human2name
25315236CV810814single nucleotide variantNM_001370259.2(MEN1):c.945T>C (p.Asp315=)Hereditary cancer-predisposing syndrome [RCV001019372]likely benign116480633664806336Human1name
25329566CV810820single nucleotide variantNM_001370259.2(MEN1):c.849G>A (p.Leu283=)Hereditary cancer-predisposing syndrome [RCV001017915]|Multiple endocrine neoplasia, type 1 [RCV001413430]benign|likely benign116480707464807074Human2name
25318137CV810834single nucleotide variantNM_001370259.2(MEN1):c.399C>T (p.Tyr133=)Hereditary cancer-predisposing syndrome [RCV001021611]|Multiple endocrine neoplasia, type 1 [RCV001442297]likely benign116480971164809711Human2name
25318072CV810835single nucleotide variantNM_001370259.2(MEN1):c.396C>T (p.Ser132=)Hereditary cancer-predisposing syndrome [RCV001021551]|Multiple endocrine neoplasia, type 1 [RCV001465314]benign|likely benign116480971464809714Human2name
25330074CV810837single nucleotide variantNM_001370259.2(MEN1):c.315C>G (p.Leu105=)Hereditary cancer-predisposing syndrome [RCV001018866]|Multiple endocrine neoplasia, type 1 [RCV001504047]benign|likely benign116480979564809795Human2name
25320048CV810846single nucleotide variantNM_001370259.2(MEN1):c.44C>G (p.Ser15Cys)Hereditary cancer-predisposing syndrome [RCV001022586]|Multiple endocrine neoplasia, type 1 [RCV003467666]uncertain significance116481006664810066Human2name
26914310CV838750single nucleotide variantNM_001370259.2(MEN1):c.82G>A (p.Gly28Ser)Hereditary cancer-predisposing syndrome [RCV003160439]|Multiple endocrine neoplasia, type 1 [RCV001054889]uncertain significance116481002864810028Human2name
26913123CV838751single nucleotide variantNM_001370259.2(MEN1):c.79C>G (p.Leu27Val)Multiple endocrine neoplasia, type 1 [RCV001039845]uncertain significance116481003164810031Human1name
26914492CV838752single nucleotide variantNM_001370259.2(MEN1):c.65T>C (p.Leu22Pro)Multiple endocrine neoplasia, type 1 [RCV001055011]uncertain significance116481004564810045Human1name
26885415CV838753single nucleotide variantNM_001370259.2(MEN1):c.44C>T (p.Ser15Phe)Hereditary cancer-predisposing syndrome [RCV004031322]|Multiple endocrine neoplasia, type 1 [RCV001043539]uncertain significance116481006664810066Human2name
28899489CV868262single nucleotide variantNM_001370259.2(MEN1):c.849G>T (p.Leu283=)Hyperparathyroidism [RCV001103404]|Multiple endocrine neoplasia, type 1 [RCV001103403]conflicting interpretations of pathogenicity|uncertain significance116480707464807074Human3name
38477330CV926336single nucleotide variantNM_001370259.2(MEN1):c.409C>A (p.Arg137=)Hereditary cancer-predisposing syndrome [RCV002322049]|Multiple endocrine neoplasia, type 1 [RCV001216091]benign|likely benign|uncertain significance116480970164809701Human2name
38493514CV926341single nucleotide variantNM_001370259.2(MEN1):c.50A>G (p.Asp17Gly)Hereditary cancer-predisposing syndrome [RCV003380903]|Multiple endocrine neoplasia, type 1 [RCV001224295]|not provided [RCV004774322]uncertain significance116481006064810060Human2name
38484106CV935685single nucleotide variantNM_001370259.2(MEN1):c.58G>T (p.Val20Leu)Multiple endocrine neoplasia, type 1 [RCV001207909]uncertain significance116481005264810052Human1name
38489154CV947579single nucleotide variantNM_001370259.2(MEN1):c.91G>A (p.Glu31Lys)Hereditary cancer-predisposing syndrome [RCV004034574]|Multiple endocrine neoplasia, type 1 [RCV001238297]uncertain significance116481001964810019Human2name
38498063CV947580single nucleotide variantNM_001370259.2(MEN1):c.29T>G (p.Leu10Arg)Hereditary cancer-predisposing syndrome [RCV003294087]|Multiple endocrine neoplasia, type 1 [RCV001227378]uncertain significance116481008164810081Human2name
40903746CV976353duplicationNM_001370259.2(MEN1):c.186dup (p.Phe63fs)not provided [RCV001269516]pathogenic116480992364809924Humanname
126731516CV994650single nucleotide variantNM_001370259.2(MEN1):c.89A>G (p.Glu30Gly)Hereditary cancer-predisposing syndrome [RCV002375337]|Multiple endocrine neoplasia, type 1 [RCV001294396]likely benign|uncertain significance116481002164810021Human2name
126729814CV994651single nucleotide variantNM_001370259.2(MEN1):c.85C>G (p.Arg29Gly)Hereditary cancer-predisposing syndrome [RCV002447301]|Multiple endocrine neoplasia, type 1 [RCV001303630]uncertain significance116481002564810025Human2name
126767642CV994652single nucleotide variantNM_001370259.2(MEN1):c.61C>T (p.Arg21Cys)Hereditary cancer-predisposing syndrome [RCV004036236]|Multiple endocrine neoplasia, type 1 [RCV001302367]uncertain significance116481004964810049Human2name
126759314CV1009816single nucleotide variantNM_001370259.2(MEN1):c.1569T>A (p.Ala523=)Multiple endocrine neoplasia, type 1 [RCV001318030]likely benign|uncertain significance116480459864804598Human1name
126760284CV1030394single nucleotide variantNM_001370259.2(MEN1):c.154C>G (p.Arg52Gly)Multiple endocrine neoplasia, type 1 [RCV001340367]likely pathogenic|uncertain significance116480995664809956Human1name
126911491CV1047362single nucleotide variantNM_001370259.2(MEN1):c.1350G>A (p.Gln450=)Multiple endocrine neoplasia, type 1 [RCV001369238]uncertain significance116480503464805034Human1name
126917504CV1047378single nucleotide variantNM_001370259.2(MEN1):c.248T>C (p.Leu83Pro)Hereditary cancer-predisposing syndrome [RCV003169798]|Multiple endocrine neoplasia, type 1 [RCV001361208]likely benign|uncertain significance116480986264809862Human2name
126922613CV1047379single nucleotide variantNM_001370259.2(MEN1):c.196A>C (p.Ser66Arg)Hereditary cancer-predisposing syndrome [RCV003298585]|Multiple endocrine neoplasia, type 1 [RCV001364873]uncertain significance116480991464809914Human2name
127242117CV1078477single nucleotide variantNM_001370259.2(MEN1):c.1476C>T (p.Pro492=)Hereditary cancer-predisposing syndrome [RCV004641639]|Multiple endocrine neoplasia, type 1 [RCV001415917]likely benign116480469164804691Human2name
127243193CV1100213single nucleotide variantNM_001370259.2(MEN1):c.1794C>T (p.Tyr598=)Multiple endocrine neoplasia, type 1 [RCV001434778]benign|likely benign116480437364804373Human1name
10056888CV197533single nucleotide variantNM_001370259.2(MEN1):c.1158C>T (p.Gly386=)Hereditary cancer-predisposing syndrome [RCV001010040]|Multiple endocrine neoplasia, type 1 [RCV000457527]uncertain significance116480566264805662Human2name
10056870CV197559deletionNM_001370259.2(MEN1):c.307del (p.Leu103fs)Hereditary cancer-predisposing syndrome [RCV000491671]|Multiple endocrine neoplasia, type 1 [RCV000018159]|not provided [RCV000182435]pathogenic116480980364809803Human2name
10056845CV197562single nucleotide variantNM_001370259.2(MEN1):c.113C>T (p.Ser38Phe)Hereditary cancer-predisposing syndrome [RCV000491203]|Multiple endocrine neoplasia, type 1 [RCV000632104]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance116480999764809997Human2name
10407623CV212930single nucleotide variantNM_001370259.2(MEN1):c.1764G>A (p.Lys588=)Hereditary cancer-predisposing syndrome [RCV000566719]|Hyperparathyroidism [RCV000311483]|MEN1-related disorder [RCV003917813]|Multiple endocrine neoplasia [RCV000400551]|Multiple endocrine neoplasia, type 1 [RCV000199306]benign|likely benign|uncertain significance116480440364804403Human5name , alternate_id
10407405CV212932single nucleotide variantNM_001370259.2(MEN1):c.1638G>A (p.Pro546=)Hereditary cancer-predisposing syndrome [RCV000491078]|Multiple endocrine neoplasia, type 1 [RCV001086369]|not provided [RCV000838399]|not specified [RCV000679252]benign|likely benign116480452964804529Human2name
10407669CV212940single nucleotide variantNM_001370259.2(MEN1):c.1170G>A (p.Pro390=)Hereditary cancer-predisposing syndrome [RCV000569118]|Multiple endocrine neoplasia, type 1 [RCV000199870]|not provided [RCV001706182]|not specified [RCV000729820]benign|likely benign|conflicting interpretations of pathogenicity116480565064805650Human2name
10407552CV212941single nucleotide variantNM_001370259.2(MEN1):c.1155G>A (p.Ala385=)Hereditary cancer-predisposing syndrome [RCV000561075]|Multiple endocrine neoplasia, type 1 [RCV000198409]|not provided [RCV001675667]benign|likely benign|uncertain significance116480566564805665Human2name
10407685CV212943single nucleotide variantNM_001370259.2(MEN1):c.1063C>A (p.Arg355=)Multiple endocrine neoplasia, type 1 [RCV000200097]uncertain significance116480575764805757Human1name
10767950CV222153single nucleotide variantNM_001370259.2(MEN1):c.1578C>A (p.Ala526=)Hereditary cancer-predisposing syndrome [RCV002256119]|Multiple endocrine neoplasia, type 1 [RCV000205589]benign|likely benign116480458964804589Human2name
10766874CV222154single nucleotide variantNM_001370259.2(MEN1):c.1443G>A (p.Arg481=)Multiple endocrine neoplasia, type 1 [RCV001431309]likely benign116480472464804724Human1name
10766991CV222159single nucleotide variantNM_001370259.2(MEN1):c.1080C>T (p.Ile360=)Hereditary cancer-predisposing syndrome [RCV000574517]|MEN1-related disorder [RCV003907759]|Multiple endocrine neoplasia, type 1 [RCV000988572]|not provided [RCV001529229]|not specified [RCV000506264]benign|likely benign116480574064805740Human3name , alternate_id
11348468CV241167single nucleotide variantNM_001370259.2(MEN1):c.1695G>T (p.Leu565=)Hereditary cancer-predisposing syndrome [RCV000564918]|Multiple endocrine neoplasia, type 1 [RCV001087239]|not provided [RCV000756336]likely benign|conflicting interpretations of pathogenicity116480447264804472Human2name
11348833CV241170single nucleotide variantNM_001370259.2(MEN1):c.1518C>T (p.Thr506=)Hereditary cancer-predisposing syndrome [RCV000576040]|MEN1-related disorder [RCV003919980]|Multiple endocrine neoplasia, type 1 [RCV000228222]benign|likely benign116480464964804649Human3name , alternate_id
11348076CV241171single nucleotide variantNM_001370259.2(MEN1):c.1434C>T (p.Gly478=)Hereditary cancer-predisposing syndrome [RCV000570713]|Multiple endocrine neoplasia, type 1 [RCV000234303]benign|conflicting interpretations of pathogenicity116480473364804733Human2name
11349411CV241172single nucleotide variantNM_001370259.2(MEN1):c.1401C>T (p.Ala467=)Hereditary cancer-predisposing syndrome [RCV001011382]|MEN1-related disorder [RCV003897567]|Multiple endocrine neoplasia, type 1 [RCV000230391]|not provided [RCV004808650]|not specified [RCV004701327]benign|likely benign116480476664804766Human3name , alternate_id
11348655CV241173single nucleotide variantNM_001370259.2(MEN1):c.1392G>A (p.Ala464=)Hereditary cancer-predisposing syndrome [RCV001011304]|MEN1-related disorder [RCV004748676]|Multiple endocrine neoplasia, type 1 [RCV000227483]|not provided [RCV003884427]|not specified [RCV002465598]likely pathogenic|benign|likely benign116480477564804775Human3name , alternate_id
11347908CV241174single nucleotide variantNM_001370259.2(MEN1):c.1386C>G (p.Ala462=)Hereditary cancer-predisposing syndrome [RCV002392719]|Multiple endocrine neoplasia, type 1 [RCV001456315]benign|likely benign116480478164804781Human2name
11350022CV241177single nucleotide variantNM_001370259.2(MEN1):c.1287G>T (p.Thr429=)Hereditary cancer-predisposing syndrome [RCV002379027]|Multiple endocrine neoplasia, type 1 [RCV000232959]benign|likely benign116480509764805097Human2name
11348599CV241178single nucleotide variantNM_001370259.2(MEN1):c.1230C>T (p.Phe410=)Hereditary cancer-predisposing syndrome [RCV000566957]|Multiple endocrine neoplasia, type 1 [RCV000227264]benign|likely benign116480515464805154Human2name
11347839CV241179single nucleotide variantNM_001370259.2(MEN1):c.1203T>C (p.Gly401=)Hereditary cancer-predisposing syndrome [RCV003165649]|Multiple endocrine neoplasia, type 1 [RCV000233483]benign|likely benign116480518164805181Human2name
11347621CV241182single nucleotide variantNM_001370259.2(MEN1):c.1026G>A (p.Ala342=)Hereditary cancer-predisposing syndrome [RCV000573264]|Multiple endocrine neoplasia, type 1 [RCV000232744]|not provided [RCV003401187]benign|likely benign116480625564806255Human2name
11347589CV241195deletionNM_001370259.2(MEN1):c.633del (p.Asn212fs)Multiple endocrine neoplasia, type 1 [RCV000232633]pathogenic116480791264807912Human1name
11346720CV241202deletionNM_001370259.2(MEN1):c.323del (p.Arg108fs)Multiple endocrine neoplasia, type 1 [RCV000229514]pathogenic116480978764809787Human1name
11349300CV241203single nucleotide variantNM_001370259.2(MEN1):c.100C>A (p.Leu34Met)Hereditary cancer-predisposing syndrome [RCV000492008]|Multiple endocrine neoplasia, type 1 [RCV000229989]uncertain significance116481001064810010Human2name
11546703CV254243single nucleotide variantNM_001370259.2(MEN1):c.1003C>A (p.Arg335=)Hereditary cancer-predisposing syndrome [RCV000568413]|Hyperparathyroidism [RCV001108573]|Multiple endocrine neoplasia, type 1 [RCV000461335]|not specified [RCV000246806]benign|likely benign|uncertain significance116480627864806278Human4name
11559990CV260001single nucleotide variantNM_001370259.2(MEN1):c.292C>T (p.Arg98Ter)Hereditary cancer-predisposing syndrome [RCV002436089]|Multiple endocrine neoplasia, type 1 [RCV001244528]|not provided [RCV000255438]pathogenic116480981864809818Human2name
11558150CV260002single nucleotide variantNM_001370259.2(MEN1):c.227C>A (p.Thr76Asn)Multiple endocrine neoplasia, type 1 [RCV001246047]|not provided [RCV000255896]uncertain significance116480988364809883Human1name
11633048CV264443duplicationNM_001370259.2(MEN1):c.340dup (p.Ser114fs)Hereditary cancer-predisposing syndrome [RCV000490981]|Multiple endocrine neoplasia, type 1 [RCV001046917]|not provided [RCV000309108]pathogenic116480976964809770Human2name
126754619CV994634single nucleotide variantNM_001370259.2(MEN1):c.1344G>A (p.Glu448=)Hereditary cancer-predisposing syndrome [RCV002379999]|Multiple endocrine neoplasia, type 1 [RCV001298168]benign|likely benign|uncertain significance116480504064805040Human2name
126761380CV994648single nucleotide variantNM_001370259.2(MEN1):c.244G>A (p.Asp82Asn)Multiple endocrine neoplasia, type 1 [RCV001300074]uncertain significance116480986664809866Human1name
126740216CV994649single nucleotide variantNM_001370259.2(MEN1):c.208G>A (p.Asp70Asn)Hereditary cancer-predisposing syndrome [RCV002418924]|Multiple endocrine neoplasia, type 1 [RCV001305245]uncertain significance116480990264809902Human2name
126752847CV1009833single nucleotide variantNM_001370259.2(MEN1):c.406G>C (p.Asp136His)MEN1-related disorder [RCV003405552]|Multiple endocrine neoplasia, type 1 [RCV001327184]uncertain significance116480970464809704Human2alternate_id
8689949CV139876single nucleotide variantNM_001370259.2(MEN1):c.1170G>C (p.Pro390=)Hereditary cancer-predisposing syndrome [RCV000562906]|MEN1-related disorder [RCV003894973]|Multiple endocrine neoplasia, type 1 [RCV000123380]|not provided [RCV003736581]benign|likely benign|uncertain significance116480565064805650Human3alternate_id
8689952CV139879single nucleotide variantNM_001370259.2(MEN1):c.1594G>T (p.Gly532Cys)Hereditary cancer-predisposing syndrome [RCV000572942]|MEN1-related disorder [RCV004748592]|Multiple endocrine neoplasia, type 1 [RCV000123383]|not provided [RCV004589612]conflicting interpretations of pathogenicity|uncertain significance116480457364804573Human3alternate_id
9686671CV171148single nucleotide variantNM_001370259.2(MEN1):c.563C>T (p.Pro188Leu)Hereditary cancer-predisposing syndrome [RCV000708708]|Hyperparathyroidism [RCV000148613]|MEN1-related disorder [RCV003945177]|Multiple endocrine neoplasia, type 1 [RCV000200394]|not provided [RCV005003490]|not specified [RCV000455592]likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance116480798264807982Human5alternate_id
9686670CV171149single nucleotide variantNM_001370259.2(MEN1):c.511C>T (p.Arg171Trp)Hereditary cancer-predisposing syndrome [RCV000569499]|Hyperparathyroidism [RCV000148612]|MEN1-related disorder [RCV004748599]|Multiple endocrine neoplasia, type 1 [RCV000410523]|Ovarian cancer [RCV003153432]|not provided [RCV000766972]|not specified [RCV0004556benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance116480803464808034Human7alternate_id
10042921CV186156single nucleotide variantNM_001370259.2(MEN1):c.1567G>C (p.Ala523Pro)Hereditary cancer-predisposing syndrome [RCV002399596]|MEN1-related disorder [RCV004748613]|Multiple endocrine neoplasia, type 1 [RCV000168386]likely benign|uncertain significance116480460064804600Human3alternate_id
10042922CV186157single nucleotide variantNM_001370259.2(MEN1):c.1535C>T (p.Ser512Leu)Hereditary cancer-predisposing syndrome [RCV000561706]|Hyperparathyroidism [RCV000276552]|MEN1-related disorder [RCV003416048]|Multiple endocrine neoplasia, type 1 [RCV000168243]|not provided [RCV001558467]|not specified [RCV001818404]benign|conflicting interpretations of pathogenicity|uncertain significance116480463264804632Human5alternate_id
10056897CV197518microsatelliteNM_001370259.2(MEN1):c.1667AGA[1] (p.Lys557del)MEN1-related disorder [RCV003407673]|Multiple endocrine neoplasia, type 1 [RCV001223385]|not provided [RCV000182464]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance116480449564804497Humanalternate_id
10407424CV212947single nucleotide variantNM_001370259.2(MEN1):c.685C>T (p.Arg229Cys)Hereditary cancer-predisposing syndrome [RCV001025738]|MEN1-related disorder [RCV003937757]|Multiple endocrine neoplasia, type 1 [RCV000196791]|not provided [RCV001795326]likely benign|conflicting interpretations of pathogenicity|uncertain significance116480765064807650Human3alternate_id
10407610CV212948single nucleotide variantNM_001370259.2(MEN1):c.361G>A (p.Val121Ile)Hereditary cancer-predisposing syndrome [RCV002460056]|MEN1-related disorder [RCV004748655]|Multiple endocrine neoplasia, type 1 [RCV000199154]|not provided [RCV004777619]uncertain significance116480974964809749Human3alternate_id
11349008CV241189single nucleotide variantNM_001370259.2(MEN1):c.754G>T (p.Asp252Tyr)Hereditary cancer-predisposing syndrome [RCV002392720]|MEN1-related disorder [RCV003401188]|Multiple endocrine neoplasia, type 1 [RCV000228896]likely benign|uncertain significance116480758164807581Human3alternate_id
329368296CV2424189single nucleotide variantNM_001370259.2(MEN1):c.814C>T (p.His272Tyr)Hereditary cancer-predisposing syndrome [RCV003183513]|MEN1-related disorder [RCV004725672]uncertain significance116480718964807189Human2alternate_id
8565760CV31729single nucleotide variantNM_001370259.2(MEN1):c.778C>T (p.Gln260Ter)Hereditary cancer-predisposing syndrome [RCV000491298]|MEN1-related disorder [RCV004748527]|Multiple endocrine neoplasia, type 1 [RCV000018170]|not provided [RCV004998100]pathogenic116480755764807557Human3alternate_id
405274845CV3204493single nucleotide variantNM_001370259.2(MEN1):c.1533G>C (p.Val511=)MEN1-related disorder [RCV003951925]likely benign116480463464804634Humantrait , alternate_id
12885326CV398276single nucleotide variantNM_001370259.2(MEN1):c.1071C>T (p.Asp357=)Hereditary cancer-predisposing syndrome [RCV000572706]|MEN1-related disorder [RCV003960041]|Multiple endocrine neoplasia, type 1 [RCV000465120]benign|likely benign116480574964805749Human3alternate_id
12891572CV398350single nucleotide variantNM_001370259.2(MEN1):c.1516A>C (p.Thr506Pro)Hereditary cancer-predisposing syndrome [RCV001011879]|MEN1-related disorder [RCV004748764]|Multiple endocrine neoplasia, type 1 [RCV000476839]|not provided [RCV001284274]conflicting interpretations of pathogenicity|uncertain significance116480465164804651Human3alternate_id
12882077CV398351single nucleotide variantNM_001370259.2(MEN1):c.1506G>C (p.Lys502Asn)Hereditary cancer-predisposing syndrome [RCV000566191]|MEN1-related disorder [RCV003392264]|Multiple endocrine neoplasia, type 1 [RCV000458972]|not provided [RCV004696198]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance116480466164804661Human3alternate_id
12883441CV398426single nucleotide variantNM_001370259.2(MEN1):c.205C>T (p.Pro69Ser)Hereditary cancer-predisposing syndrome [RCV003362788]|MEN1-related disorder [RCV003401444]|Multiple endocrine neoplasia, type 1 [RCV000461607]uncertain significance116480990564809905Human3alternate_id
12889960CV398702single nucleotide variantNM_001370259.2(MEN1):c.1479G>A (p.Pro493=)Hereditary cancer-predisposing syndrome [RCV000571666]|MEN1-related disorder [RCV003932716]|Multiple endocrine neoplasia, type 1 [RCV000473734]|not provided [RCV001721504]benign|likely benign116480468864804688Human3alternate_id
12892445CV398739single nucleotide variantNM_001370259.2(MEN1):c.883C>T (p.Arg295Trp)Hereditary cancer-predisposing syndrome [RCV000491071]|MEN1-related disorder [RCV003392263]|Multiple endocrine neoplasia, type 1 [RCV000470592]conflicting interpretations of pathogenicity|uncertain significance116480704064807040Human3alternate_id
12891346CV398743single nucleotide variantNM_001370259.2(MEN1):c.682A>G (p.Met228Val)Hereditary cancer-predisposing syndrome [RCV001025697]|MEN1-related disorder [RCV003401443]|Multiple endocrine neoplasia, type 1 [RCV000476428]uncertain significance116480765364807653Human3alternate_id
12889496CV398749single nucleotide variantNM_001370259.2(MEN1):c.352G>A (p.Val118Met)Hereditary cancer-predisposing syndrome [RCV002339107]|MEN1-related disorder [RCV003899901]|Multiple endocrine neoplasia, type 1 [RCV000472854]likely benign|uncertain significance116480975864809758Human3alternate_id
13437092CV433091single nucleotide variantNM_001370259.2(MEN1):c.939T>G (p.Tyr313Ter)Hereditary cancer-predisposing syndrome [RCV002376942]|MEN1-related disorder [RCV004722849]|Multiple endocrine neoplasia, type 1 [RCV003517212]|not specified [RCV000508282]pathogenic116480634264806342Human3alternate_id
13486996CV444855single nucleotide variantNM_001370259.2(MEN1):c.189C>G (p.Phe63Leu)Hereditary cancer-predisposing syndrome [RCV001013550]|MEN1-related disorder [RCV003942716]|Multiple endocrine neoplasia, type 1 [RCV000559995]|not provided [RCV000523092]|not specified [RCV001821464]conflicting interpretations of pathogenicity|uncertain significance116480992164809921Human3alternate_id
8569648CV45186single nucleotide variantNM_001370259.2(MEN1):c.1296G>A (p.Leu432=)Hereditary cancer-predisposing syndrome [RCV000492032]|Hyperparathyroidism [RCV000353672]|MEN1-related disorder [RCV003891445]|Multiple endocrine neoplasia, type 1 [RCV000030197]|not provided [RCV000679247]|not specified [RCV000379404]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided116480508864805088Human5alternate_id
13486187CV461263single nucleotide variantNM_001370259.2(MEN1):c.1635G>A (p.Pro545=)Hereditary cancer-predisposing syndrome [RCV001012390]|MEN1-related disorder [RCV004748812]|Multiple endocrine neoplasia, type 1 [RCV000553596]benign|likely benign116480453264804532Human3alternate_id
13476197CV461273single nucleotide variantNM_001370259.2(MEN1):c.1404G>A (p.Glu468=)Hereditary cancer-predisposing syndrome [RCV000565386]|MEN1-related disorder [RCV004748811]|Multiple endocrine neoplasia, type 1 [RCV001081562]|not provided [RCV000827543]benign|likely benign116480476364804763Human3alternate_id
13492953CV461278single nucleotide variantNM_001370259.2(MEN1):c.1287G>A (p.Thr429=)Hereditary cancer-predisposing syndrome [RCV001010767]|MEN1-related disorder [RCV003942740]|Multiple endocrine neoplasia, type 1 [RCV000535325]benign|likely benign116480509764805097Human3alternate_id
13472024CV461783single nucleotide variantNM_001370259.2(MEN1):c.1608G>A (p.Gln536=)Hereditary cancer-predisposing syndrome [RCV000564252]|MEN1-related disorder [RCV003905335]|Multiple endocrine neoplasia, type 1 [RCV001001327]benign|likely benign116480455964804559Human3alternate_id
13614603CV526329single nucleotide variantNM_001370259.2(MEN1):c.1692G>T (p.Leu564=)Hereditary cancer-predisposing syndrome [RCV001012772]|MEN1-related disorder [RCV003892420]|Multiple endocrine neoplasia, type 1 [RCV000632156]benign|likely benign116480447564804475Human3alternate_id
13614604CV526590single nucleotide variantNM_001370259.2(MEN1):c.1494A>T (p.Pro498=)Hereditary cancer-predisposing syndrome [RCV003343963]|MEN1-related disorder [RCV003980220]|Multiple endocrine neoplasia, type 1 [RCV000632157]benign|likely benign116480467364804673Human3alternate_id
13614619CV526877single nucleotide variantNM_001370259.2(MEN1):c.1251C>T (p.Tyr417=)Hereditary cancer-predisposing syndrome [RCV002413804]|MEN1-related disorder [RCV003953115]|Multiple endocrine neoplasia, type 1 [RCV000632167]benign|likely benign116480513364805133Human3alternate_id
14722913CV640286single nucleotide variantNM_001370259.2(MEN1):c.839T>C (p.Leu280Ser)Hereditary cancer-predisposing syndrome [RCV001017703]|MEN1-related disorder [RCV003424344]|Multiple endocrine neoplasia, type 1 [RCV000797745]|not provided [RCV004768657]likely benign|conflicting interpretations of pathogenicity|uncertain significance116480708464807084Human3alternate_id
15139988CV693081single nucleotide variantNM_001370259.2(MEN1):c.1119C>A (p.Pro373=)Hereditary cancer-predisposing syndrome [RCV001009910]|MEN1-related disorder [RCV003983235]|Multiple endocrine neoplasia, type 1 [RCV000877414]benign|likely benign116480570164805701Human3alternate_id
38457941CV935676single nucleotide variantNM_001370259.2(MEN1):c.899C>T (p.Thr300Ile)Diffuse midline glioma, H3 K27-altered [RCV003314679]|Hereditary cancer-predisposing syndrome [RCV002375161]|MEN1-related disorder [RCV004726970]|Multiple endocrine neoplasia, type 1 [RCV001211267]uncertain significance116480702464807024Human3alternate_id
126762915CV994636single nucleotide variantNM_001370259.2(MEN1):c.1190C>T (p.Thr397Ile)MEN1-related disorder [RCV003416184]|Multiple endocrine neoplasia, type 1 [RCV001310029]uncertain significance116480519464805194Human2alternate_id
152050434CV1530858microsatelliteNM_001370259.2(MEN1):c.1351-35ACCTTGCTCTC[3]Multiple endocrine neoplasia, type 1 [RCV002123136]benign|likely benign116480482964804830Humanname
25327280CV815504indelNM_001370259.2(MEN1):c.825-1_828delinsTACCTAGAGGTTHereditary cancer-predisposing syndrome [RCV001027323]pathogenic116480709564807099Humanname