| 8565769 | CV31739 | single nucleotide variant | MEN1, IVS4, G-A, -9 | Multiple endocrine neoplasia, type 1 [RCV000018180] | pathogenic | | | | Human | | name |
| 8565751 | CV31718 | deletion | MEN1, 1-BP DEL, 416C | Multiple endocrine neoplasia, type 1 [RCV000018159] | pathogenic | | | | Human | | name |
| 8565750 | CV31717 | deletion | MEN1, 4-BP DEL, NT357 | Multiple endocrine neoplasia, type 1 [RCV000018158] | pathogenic | | | | Human | | name |
| 8565753 | CV31722 | deletion | MEN1, 4-BP DEL, NT735 | Multiple endocrine neoplasia, type 1 [RCV000018163] | pathogenic | | | | Human | | name |
| 8565775 | CV31745 | insertion | MEN1, 6-BP INS, NT879 | Multiple endocrine neoplasia, type 1 [RCV000018186] | pathogenic | | | | Human | | name |
| 8565778 | CV31748 | insertion | MEN1, 1-BP INS, 1657C | Multiple endocrine neoplasia, type 1 [RCV000018189] | pathogenic | | | | Human | | name |
| 8565752 | CV31719 | deletion | MEN1, 3-BP DEL, LYS119DEL | Multiple endocrine neoplasia, type 1 [RCV000018160] | pathogenic | | | | Human | | name |
| 150504958 | CV1255348 | single nucleotide variant | NM_130803.3(MEN1):c.-43C>T | not provided [RCV001677795] | benign | 11 | 64810833 | 64810833 | Human | | name |
| 11604939 | CV321251 | single nucleotide variant | NM_000244.4(MEN1):c.-35A>T | Hyperparathyroidism [RCV000314220]|Multiple endocrine neoplasia, type 1 [RCV000368660]|not provided [RCV004718470]|not specified [RCV000417914] | benign|likely benign | 11 | 64810641 | 64810641 | Human | 3 | name |
| 11614079 | CV328456 | single nucleotide variant | NM_000244.4(MEN1):c.-35A>C | Hyperparathyroidism [RCV000274018]|Multiple endocrine neoplasia, type 1 [RCV000310348]|not provided [RCV004718471]|not specified [RCV000426448] | benign|likely benign | 11 | 64810641 | 64810641 | Human | 3 | name |
| 11646393 | CV328457 | single nucleotide variant | NM_130799.2(MEN1):c.-94G>A | Hyperparathyroidism [RCV000270673]|Multiple endocrine neoplasia, type 1 [RCV000364998] | uncertain significance | 11 | 64810700 | 64810700 | Human | 3 | name |
| 12836239 | CV374179 | single nucleotide variant | NM_000244.4(MEN1):c.-40G>C | not specified [RCV000423050] | likely benign | 11 | 64810646 | 64810646 | Human | | name |
| 13539875 | CV503909 | single nucleotide variant | NM_000244.4(MEN1):c.-32G>C | not specified [RCV000613876] | likely benign | 11 | 64810638 | 64810638 | Human | | name |
| 21072033 | CV791152 | single nucleotide variant | NM_000244.4(MEN1):c.-47A>G | Multiple endocrine neoplasia, type 1 [RCV000988576] | likely benign | 11 | 64810653 | 64810653 | Human | 1 | name |
| 150411376 | CV1177469 | single nucleotide variant | NM_130803.3(MEN1):c.-311A>T | not provided [RCV001547129] | likely benign | 11 | 64811101 | 64811101 | Human | | name |
| 150426230 | CV1184545 | single nucleotide variant | NM_130802.2(MEN1):c.-489G>A | not provided [RCV001559089] | likely benign | 11 | 64810733 | 64810733 | Human | | name |
| 150467372 | CV1269219 | single nucleotide variant | NM_130803.3(MEN1):c.-358T>C | not provided [RCV001694627] | benign | 11 | 64811148 | 64811148 | Human | | name |
| 11655456 | CV327400 | single nucleotide variant | NM_130799.2(MEN1):c.-106T>C | Hyperparathyroidism [RCV000325757]|Multiple endocrine neoplasia [RCV000380254] | uncertain significance | 11 | 64810712 | 64810712 | Human | 3 | name |
| 14738660 | CV665106 | single nucleotide variant | NM_130799.2(MEN1):c.-844C>T | not provided [RCV000839499] | benign | 11 | 64811450 | 64811450 | Human | | name |
| 14737669 | CV665951 | single nucleotide variant | NM_130799.2(MEN1):c.-217T>A | not provided [RCV000839022] | benign | 11 | 64810823 | 64810823 | Human | | name |
| 126733963 | CV1020900 | single nucleotide variant | NM_001370259.2(MEN1):c.-6G>A | Hereditary 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 significance | 11 | 64810115 | 64810115 | Human | 3 | name , alternate_id |
| 155740574 | CV1809475 | single nucleotide variant | NM_001370259.2(MEN1):c.-4C>T | Hereditary cancer-predisposing syndrome [RCV002343045] | uncertain significance | 11 | 64810113 | 64810113 | Human | 1 | name |
| 155747753 | CV1849755 | single nucleotide variant | NM_001370259.2(MEN1):c.-1C>T | Hereditary cancer-predisposing syndrome [RCV002417133] | uncertain significance | 11 | 64810110 | 64810110 | Human | 1 | name |
| 155799439 | CV1859819 | single nucleotide variant | NM_001370259.2(MEN1):c.*3T>A | Multiple endocrine neoplasia, type 1 [RCV005248806]|not specified [RCV002466063] | benign|likely benign | 11 | 64804331 | 64804331 | Human | 1 | name |
| 10768456 | CV222166 | single nucleotide variant | NM_001370259.2(MEN1):c.-2C>T | Hereditary cancer-predisposing syndrome [RCV002433902]|Multiple endocrine neoplasia, type 1 [RCV000206434] | uncertain significance | 11 | 64810111 | 64810111 | Human | 2 | name |
| 405703213 | CV3233420 | single nucleotide variant | NM_001370259.2(MEN1):c.-9C>G | Multiple endocrine neoplasia, type 1 [RCV004009876] | likely benign | 11 | 64810118 | 64810118 | Human | 1 | name |
| 405742249 | CV3234118 | single nucleotide variant | NM_001370259.2(MEN1):c.*5C>G | Multiple endocrine neoplasia, type 1 [RCV004015176] | likely benign | 11 | 64804329 | 64804329 | Human | 1 | name |
| 598121330 | CV3889354 | single nucleotide variant | NM_001370259.2(MEN1):c.*6T>C | Multiple endocrine neoplasia, type 1 [RCV005246463] | benign | 11 | 64804328 | 64804328 | Human | 1 | name |
| 598121331 | CV3889355 | single nucleotide variant | NM_001370259.2(MEN1):c.*8G>A | Multiple endocrine neoplasia, type 1 [RCV005246464] | benign | 11 | 64804326 | 64804326 | Human | 1 | name |
| 598121345 | CV3889369 | single nucleotide variant | NM_001370259.2(MEN1):c.*1A>C | Multiple endocrine neoplasia, type 1 [RCV005246478] | benign | 11 | 64804333 | 64804333 | Human | 1 | name |
| 598121397 | CV3889420 | single nucleotide variant | NM_001370259.2(MEN1):c.*9G>A | Multiple endocrine neoplasia, type 1 [RCV005246529] | benign | 11 | 64804325 | 64804325 | Human | 1 | name |
| 598121434 | CV3889457 | single nucleotide variant | NM_001370259.2(MEN1):c.*9G>T | Multiple endocrine neoplasia, type 1 [RCV005246566] | benign | 11 | 64804325 | 64804325 | Human | 1 | name |
| 598121495 | CV3889518 | single nucleotide variant | NM_001370259.2(MEN1):c.*2C>T | Multiple endocrine neoplasia, type 1 [RCV005247620] | benign | 11 | 64804332 | 64804332 | Human | 1 | name |
| 12901060 | CV408415 | single nucleotide variant | NM_000244.4(MEN1):c.-24+3G>A | not provided [RCV000483820] | uncertain significance | 11 | 64810627 | 64810627 | Human | | name |
| 10056858 | CV197532 | single nucleotide variant | NM_130799.2(MEN1):c.1186-1G>A | not provided [RCV000182418] | pathogenic | 11 | 64805199 | 64805199 | Human | | name |
| 11348266 | CV241204 | single nucleotide variant | NM_001370259.2(MEN1):c.-22C>A | Hereditary 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 significance | 11 | 64810131 | 64810131 | Human | 3 | name , alternate_id |
| 401798136 | CV2741280 | single nucleotide variant | NM_001370259.2(MEN1):c.-46T>A | not specified [RCV003322443] | likely benign | 11 | 64810536 | 64810536 | Human | | name |
| 405007677 | CV2853160 | single nucleotide variant | NM_001370259.2(MEN1):c.-13A>C | not specified [RCV003494354] | likely benign | 11 | 64810122 | 64810122 | Human | | name |
| 11652943 | CV314551 | single nucleotide variant | NM_001370259.2(MEN1):c.*89G>A | Hyperparathyroidism [RCV000308171]|Multiple endocrine neoplasia, type 1 [RCV000365188] | uncertain significance | 11 | 64804245 | 64804245 | Human | 3 | name |
| 405258354 | CV3203694 | single nucleotide variant | NM_001370259.2(MEN1):c.-10G>A | Hereditary cancer-predisposing syndrome [RCV005251380]|MEN1-related disorder [RCV003941885]|Multiple endocrine neoplasia, type 1 [RCV005249668]|not specified [RCV004527016] | benign|likely benign|uncertain significance | 11 | 64810119 | 64810119 | Human | 3 | name , alternate_id |
| 405278083 | CV3216438 | single nucleotide variant | NM_001370259.2(MEN1):c.-18C>T | MEN1-related disorder [RCV003954376] | likely benign | 11 | 64810127 | 64810127 | Human | | name , trait , alternate_id |
| 597684569 | CV3731221 | single nucleotide variant | NM_001370259.2(MEN1):c.*10G>T | Multiple endocrine neoplasia, type 1 [RCV005249754]|not provided [RCV004999053] | benign|uncertain significance | 11 | 64804324 | 64804324 | Human | 1 | name |
| 598121371 | CV3889395 | single nucleotide variant | NM_001370259.2(MEN1):c.*10G>A | Multiple endocrine neoplasia, type 1 [RCV005246504] | benign | 11 | 64804324 | 64804324 | Human | 1 | name |
| 8569641 | CV45179 | single nucleotide variant | NM_001370259.2(MEN1):c.-20G>A | Hereditary 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 significance | 11 | 64810129 | 64810129 | Human | 3 | name , alternate_id |
| 13796446 | CV551887 | single nucleotide variant | NM_001370259.2(MEN1):c.*16G>A | not provided [RCV000679243] | likely benign | 11 | 64804318 | 64804318 | Human | | name |
| 11656042 | CV314528 | single nucleotide variant | NM_001370259.2(MEN1):c.*557C>A | Hyperparathyroidism [RCV000387413]|Multiple endocrine neoplasia [RCV000330548] | uncertain significance | 11 | 64803777 | 64803777 | Human | 3 | name |
| 11648043 | CV314532 | single nucleotide variant | NM_001370259.2(MEN1):c.*529A>G | Hyperparathyroidism [RCV000280003]|Multiple endocrine neoplasia [RCV000394926] | uncertain significance | 11 | 64803805 | 64803805 | Human | 3 | name |
| 11656899 | CV314540 | single nucleotide variant | NM_001370259.2(MEN1):c.*527G>T | Hyperparathyroidism [RCV000337431]|Multiple endocrine neoplasia [RCV000394937] | uncertain significance | 11 | 64803807 | 64803807 | Human | 3 | name |
| 11646499 | CV314541 | single nucleotide variant | NM_001370259.2(MEN1):c.*392G>A | Hyperparathyroidism [RCV000271312]|Multiple endocrine neoplasia, type 1 [RCV000363607] | uncertain significance | 11 | 64803942 | 64803942 | Human | 3 | name |
| 11605223 | CV314543 | single nucleotide variant | NM_001370259.2(MEN1):c.*302C>T | Hyperparathyroidism [RCV000317316]|Multiple endocrine neoplasia, type 1 [RCV000374227]|not provided [RCV001612967] | benign|likely benign | 11 | 64804032 | 64804032 | Human | 3 | name |
| 11601418 | CV314544 | single nucleotide variant | NM_001370259.2(MEN1):c.*272T>C | Hyperparathyroidism [RCV000339408]|Multiple endocrine neoplasia, type 1 [RCV000282016] | uncertain significance | 11 | 64804062 | 64804062 | Human | 3 | name |
| 11601846 | CV314549 | single nucleotide variant | NM_001370259.2(MEN1):c.*185C>T | Hyperparathyroidism [RCV000398124]|Multiple endocrine neoplasia, type 1 [RCV000285411] | benign|likely benign | 11 | 64804149 | 64804149 | Human | 3 | name |
| 405286354 | CV3205313 | single nucleotide variant | NM_001370259.2(MEN1):c.*407C>T | MEN1-related disorder [RCV003959511] | likely benign | 11 | 64803927 | 64803927 | Human | | name , trait , alternate_id |
| 11650269 | CV321246 | single nucleotide variant | NM_001370259.2(MEN1):c.*560G>T | Hyperparathyroidism [RCV000292086]|Multiple endocrine neoplasia [RCV000384043] | uncertain significance | 11 | 64803774 | 64803774 | Human | 3 | name |
| 11603697 | CV321250 | single nucleotide variant | NM_001370259.2(MEN1):c.*470A>G | Hyperparathyroidism [RCV000302380]|Multiple endocrine neoplasia, type 1 [RCV000359433]|Somatotroph adenoma [RCV000736006]|not specified [RCV002248514] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 11 | 64803864 | 64803864 | Human | 4 | name |
| 11619270 | CV327382 | single nucleotide variant | NM_001370259.2(MEN1):c.*794G>A | Hyperparathyroidism [RCV000380647]|Multiple endocrine neoplasia, type 1 [RCV000323655] | benign|likely benign|uncertain significance | 11 | 64803540 | 64803540 | Human | 3 | name |
| 11646229 | CV327388 | single nucleotide variant | NM_001370259.2(MEN1):c.*570C>A | Hyperparathyroidism [RCV000327150]|Multiple endocrine neoplasia [RCV000269813] | uncertain significance | 11 | 64803764 | 64803764 | Human | 3 | name |
| 11616588 | CV327389 | single nucleotide variant | NM_001370259.2(MEN1):c.*533C>T | Hyperparathyroidism [RCV000295504]|Multiple endocrine neoplasia [RCV000352663]|not provided [RCV004693048] | uncertain significance | 11 | 64803801 | 64803801 | Human | 3 | name |
| 11614549 | CV327391 | single nucleotide variant | NM_001370259.2(MEN1):c.*307T>G | Hyperparathyroidism [RCV000278044]|Multiple endocrine neoplasia, type 1 [RCV000389312]|not provided [RCV001582939] | benign|likely benign | 11 | 64804027 | 64804027 | Human | 3 | name |
| 11652555 | CV328432 | single nucleotide variant | NM_001370259.2(MEN1):c.*438C>T | Hyperparathyroidism [RCV000305835]|Multiple endocrine neoplasia, type 1 [RCV000399525] | uncertain significance | 11 | 64803896 | 64803896 | Human | 3 | name |
| 11655825 | CV328438 | single nucleotide variant | NM_001370259.2(MEN1):c.*373G>C | Hyperparathyroidism [RCV000328807]|Multiple endocrine neoplasia, type 1 [RCV000367135] | uncertain significance | 11 | 64803961 | 64803961 | Human | 3 | name |
| 11657621 | CV328445 | single nucleotide variant | NM_001370259.2(MEN1):c.*104C>T | Hyperparathyroidism [RCV000398139]|Multiple endocrine neoplasia, type 1 [RCV000342836] | uncertain significance | 11 | 64804230 | 64804230 | Human | 3 | name |
| 14349764 | CV440017 | single nucleotide variant | NM_001370259.2(MEN1):c.*412G>A | Multiple endocrine neoplasia, type 1 [RCV005367363]|Somatotroph adenoma [RCV000736007] | likely pathogenic | 11 | 64803922 | 64803922 | Human | 2 | name |
| 28899031 | CV868255 | single nucleotide variant | NM_001370259.2(MEN1):c.*693T>C | Hyperparathyroidism [RCV001103229]|Multiple endocrine neoplasia, type 1 [RCV001103228] | uncertain significance | 11 | 64803641 | 64803641 | Human | 3 | name |
| 28903466 | CV868256 | single nucleotide variant | NM_001370259.2(MEN1):c.*400G>A | Hyperparathyroidism [RCV001105142]|Multiple endocrine neoplasia, type 1 [RCV001105141] | uncertain significance | 11 | 64803934 | 64803934 | Human | 3 | name |
| 28903473 | CV868257 | single nucleotide variant | NM_001370259.2(MEN1):c.*341C>G | Hyperparathyroidism [RCV001105144]|Multiple endocrine neoplasia, type 1 [RCV001105143] | uncertain significance | 11 | 64803993 | 64803993 | Human | 3 | name |
| 28905802 | CV868258 | single nucleotide variant | NM_001370259.2(MEN1):c.*245C>T | Hyperparathyroidism [RCV001106271]|Multiple endocrine neoplasia, type 1 [RCV001106270] | uncertain significance | 11 | 64804089 | 64804089 | Human | 3 | name |
| 28909610 | CV868259 | single nucleotide variant | NM_001370259.2(MEN1):c.*126C>T | Hyperparathyroidism [RCV001108501]|Multiple endocrine neoplasia, type 1 [RCV001108502]|not provided [RCV001615115] | benign|uncertain significance | 11 | 64804208 | 64804208 | Human | 3 | name |
| 126728036 | CV1009824 | single nucleotide variant | NM_001370259.2(MEN1):c.912+5G>C | Multiple endocrine neoplasia, type 1 [RCV001312423] | uncertain significance | 11 | 64807006 | 64807006 | Human | 1 | name |
| 8643164 | CV102147 | single nucleotide variant | NM_001370259.2(MEN1):c.655-6C>T | Hereditary 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 significance | 11 | 64807686 | 64807686 | Human | 5 | name , alternate_id |
| 8643165 | CV102148 | single nucleotide variant | NM_001370259.2(MEN1):c.912+1G>A | Hereditary cancer-predisposing syndrome [RCV000491428]|Multiple endocrine neoplasia, type 1 [RCV001382549]|not provided [RCV000082339] | pathogenic | 11 | 64807010 | 64807010 | Human | 2 | name |
| 126753591 | CV1030392 | single nucleotide variant | NM_001370259.2(MEN1):c.446-3C>T | Hereditary cancer-predisposing syndrome [RCV004945024]|Multiple endocrine neoplasia, type 1 [RCV001338619] | uncertain significance | 11 | 64808102 | 64808102 | Human | 2 | name |
| 126912985 | CV1047367 | single nucleotide variant | NM_001370259.2(MEN1):c.655-7C>G | Multiple endocrine neoplasia, type 1 [RCV001369936] | uncertain significance | 11 | 64807687 | 64807687 | Human | 1 | name |
| 127238668 | CV1078489 | single nucleotide variant | NM_001370259.2(MEN1):c.784-9G>C | Multiple endocrine neoplasia, type 1 [RCV001392515] | likely benign | 11 | 64807228 | 64807228 | Human | 1 | name |
| 127267467 | CV1100221 | single nucleotide variant | NM_001370259.2(MEN1):c.784-7C>G | Multiple endocrine neoplasia, type 1 [RCV001429713] | likely benign | 11 | 64807226 | 64807226 | Human | 1 | name |
| 127264945 | CV1100223 | single nucleotide variant | NM_001370259.2(MEN1):c.655-7C>T | Multiple endocrine neoplasia, type 1 [RCV001439761] | likely benign | 11 | 64807687 | 64807687 | Human | 1 | name |
| 127313412 | CV1121714 | single nucleotide variant | NM_001370259.2(MEN1):c.913-7C>T | Multiple endocrine neoplasia, type 1 [RCV001464676] | likely benign | 11 | 64806375 | 64806375 | Human | 1 | name |
| 127319516 | CV1121716 | single nucleotide variant | NM_001370259.2(MEN1):c.446-9C>G | Multiple endocrine neoplasia, type 1 [RCV001466562] | likely benign | 11 | 64808108 | 64808108 | Human | 1 | name |
| 127329163 | CV1142560 | single nucleotide variant | NM_001370259.2(MEN1):c.445+7G>T | Multiple endocrine neoplasia, type 1 [RCV001487264] | likely benign | 11 | 64809658 | 64809658 | Human | 1 | name |
| 151802602 | CV1337746 | single nucleotide variant | NM_001370259.2(MEN1):c.912+2T>G | Multiple endocrine neoplasia, type 1 [RCV001926059] | pathogenic | 11 | 64807009 | 64807009 | Human | 1 | name |
| 151720591 | CV1396004 | single nucleotide variant | NM_001370259.2(MEN1):c.655-9C>A | Multiple endocrine neoplasia, type 1 [RCV002037070] | likely benign|uncertain significance | 11 | 64807689 | 64807689 | Human | 1 | name |
| 151710914 | CV1432044 | single nucleotide variant | NM_001370259.2(MEN1):c.913-1G>C | Multiple endocrine neoplasia, type 1 [RCV002000024] | pathogenic | 11 | 64806369 | 64806369 | Human | 1 | name |
| 151829402 | CV1516625 | single nucleotide variant | NM_001370259.2(MEN1):c.445+3T>C | Multiple endocrine neoplasia, type 1 [RCV001980993] | uncertain significance | 11 | 64809662 | 64809662 | Human | 1 | name |
| 152055164 | CV1545593 | deletion | NM_001370259.2(MEN1):c.655-5del | Hereditary cancer-predisposing syndrome [RCV004641911]|MEN1-related disorder [RCV003893122]|Multiple endocrine neoplasia, type 1 [RCV002164791]|not provided [RCV003222384] | benign|likely benign | 11 | 64807685 | 64807685 | Human | 3 | name , alternate_id |
| 152061892 | CV1559691 | single nucleotide variant | NM_001370259.2(MEN1):c.655-5C>T | Multiple endocrine neoplasia, type 1 [RCV002220890] | likely benign | 11 | 64807685 | 64807685 | Human | 1 | name |
| 152054810 | CV1562050 | single nucleotide variant | NM_001370259.2(MEN1):c.824+8G>T | Multiple endocrine neoplasia, type 1 [RCV002161957] | likely benign | 11 | 64807171 | 64807171 | Human | 1 | name |
| 152059064 | CV1563431 | single nucleotide variant | NM_001370259.2(MEN1):c.784-8G>T | Multiple endocrine neoplasia, type 1 [RCV002200169] | likely benign | 11 | 64807227 | 64807227 | Human | 1 | name |
| 152054138 | CV1573892 | single nucleotide variant | NM_001370259.2(MEN1):c.783+8C>A | Multiple endocrine neoplasia, type 1 [RCV002155143] | likely benign | 11 | 64807544 | 64807544 | Human | 1 | name |
| 152054543 | CV1579500 | single nucleotide variant | NM_001370259.2(MEN1):c.446-7T>C | MEN1-related disorder [RCV003933633]|Multiple endocrine neoplasia, type 1 [RCV002158677] | likely benign | 11 | 64808106 | 64808106 | Human | 2 | name , alternate_id |
| 152056274 | CV1594233 | single nucleotide variant | NM_001370259.2(MEN1):c.445+9C>G | Multiple endocrine neoplasia, type 1 [RCV002175861] | likely benign | 11 | 64809656 | 64809656 | Human | 1 | name |
| 152054386 | CV1596716 | single nucleotide variant | NM_001370259.2(MEN1):c.825-4C>A | Multiple endocrine neoplasia, type 1 [RCV002157069] | likely benign | 11 | 64807102 | 64807102 | Human | 1 | name |
| 152061481 | CV1634507 | single nucleotide variant | NM_001370259.2(MEN1):c.655-8C>T | Multiple endocrine neoplasia, type 1 [RCV002218698] | likely benign | 11 | 64807688 | 64807688 | Human | 1 | name |
| 152060842 | CV1648906 | single nucleotide variant | NM_001370259.2(MEN1):c.825-9C>A | Multiple endocrine neoplasia, type 1 [RCV002213968] | likely benign | 11 | 64807107 | 64807107 | Human | 1 | name |
| 152031220 | CV1668255 | single nucleotide variant | NM_001370259.2(MEN1):c.784-1G>T | not provided [RCV002221991] | not provided | 11 | 64807220 | 64807220 | Human | | name |
| 152980118 | CV1678416 | single nucleotide variant | NM_001370259.2(MEN1):c.-23-1G>A | not specified [RCV002246921] | likely benign | 11 | 64810133 | 64810133 | Human | | name |
| 155727886 | CV1798203 | single nucleotide variant | NM_001370259.2(MEN1):c.445+2T>A | Hereditary cancer-predisposing syndrome [RCV002328354] | uncertain significance | 11 | 64809663 | 64809663 | Human | 1 | name |
| 155727894 | CV1798204 | single nucleotide variant | NM_001370259.2(MEN1):c.445+3T>A | Hereditary cancer-predisposing syndrome [RCV002328355] | uncertain significance | 11 | 64809662 | 64809662 | Human | 1 | name |
| 155741516 | CV1816421 | single nucleotide variant | NM_001370259.2(MEN1):c.783+3G>A | Hereditary cancer-predisposing syndrome [RCV002412119]|Multiple endocrine neoplasia, type 1 [RCV003099758] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 64807549 | 64807549 | Human | 2 | name |
| 155741855 | CV1816485 | single nucleotide variant | NM_001370259.2(MEN1):c.784-5C>G | Hereditary cancer-predisposing syndrome [RCV002412183] | uncertain significance | 11 | 64807224 | 64807224 | Human | 1 | name |
| 156218275 | CV1903502 | single nucleotide variant | NM_001370259.2(MEN1):c.655-2A>G | Multiple endocrine neoplasia, type 1 [RCV003084888] | pathogenic | 11 | 64807682 | 64807682 | Human | 1 | name |
| 10056855 | CV197538 | single nucleotide variant | NM_001370259.2(MEN1):c.784-9G>A | Hereditary cancer-predisposing syndrome [RCV002408796]|Multiple endocrine neoplasia, type 1 [RCV000205749]|not provided [RCV000182415] | pathogenic|likely pathogenic | 11 | 64807228 | 64807228 | Human | 2 | name |
| 10056887 | CV197540 | single nucleotide variant | NM_001370259.2(MEN1):c.783+1G>T | Hereditary cancer-predisposing syndrome [RCV002412118] | pathogenic | 11 | 64807551 | 64807551 | Human | 1 | name |
| 10056852 | CV197545 | single nucleotide variant | NM_001370259.2(MEN1):c.654+1G>T | Hereditary cancer-predisposing syndrome [RCV002362934]|Multiple endocrine neoplasia, type 1 [RCV000709159]|not provided [RCV000182411] | pathogenic | 11 | 64807890 | 64807890 | Human | 2 | name |
| 156272358 | CV2056032 | single nucleotide variant | NM_001370259.2(MEN1):c.445+1G>T | Multiple endocrine neoplasia, type 1 [RCV002806707] | likely pathogenic | 11 | 64809664 | 64809664 | Human | 1 | name |
| 156166257 | CV2056620 | single nucleotide variant | NM_001370259.2(MEN1):c.784-7C>A | Multiple endocrine neoplasia, type 1 [RCV002801810] | likely benign | 11 | 64807226 | 64807226 | Human | 1 | name |
| 156059506 | CV2060917 | deletion | NM_001370259.2(MEN1):c.783+2del | Multiple endocrine neoplasia, type 1 [RCV002797049] | likely pathogenic | 11 | 64807550 | 64807550 | Human | 1 | name |
| 155980014 | CV2082017 | single nucleotide variant | NM_001370259.2(MEN1):c.912+3G>T | Multiple endocrine neoplasia, type 1 [RCV002863724] | uncertain significance | 11 | 64807008 | 64807008 | Human | 1 | name |
| 155954201 | CV2086851 | single nucleotide variant | NM_001370259.2(MEN1):c.784-8G>C | Multiple endocrine neoplasia, type 1 [RCV002862510] | likely benign | 11 | 64807227 | 64807227 | Human | 1 | name |
| 10767506 | CV222160 | single nucleotide variant | NM_001370259.2(MEN1):c.655-6C>A | Hereditary cancer-predisposing syndrome [RCV002257506]|Multiple endocrine neoplasia, type 1 [RCV000988573]|not provided [RCV000657085]|not specified [RCV000454964] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 64807686 | 64807686 | Human | 2 | name |
| 11350349 | CV241191 | deletion | NM_001370259.2(MEN1):c.655-4del | Hereditary cancer-predisposing syndrome [RCV000566396]|Multiple endocrine neoplasia, type 1 [RCV000234359]|not provided [RCV003736666]|not specified [RCV000454942] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 64807684 | 64807684 | Human | 2 | name |
| 11348572 | CV241192 | single nucleotide variant | NM_001370259.2(MEN1):c.655-5C>G | Hereditary cancer-predisposing syndrome [RCV002365218]|Multiple endocrine neoplasia, type 1 [RCV000227150]|not provided [RCV004725119]|not specified [RCV003226264] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 64807685 | 64807685 | Human | 2 | name |
| 11349572 | CV241193 | single nucleotide variant | NM_001370259.2(MEN1):c.655-6C>G | Hereditary 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 significance | 11 | 64807686 | 64807686 | Human | 5 | name , alternate_id |
| 11634290 | CV264562 | single nucleotide variant | NM_001370259.2(MEN1):c.446-2A>C | Multiple endocrine neoplasia, type 1 [RCV003233029]|not provided [RCV000406326] | pathogenic | 11 | 64808101 | 64808101 | Human | 1 | name |
| 401878261 | CV2790761 | single nucleotide variant | NM_001370259.2(MEN1):c.783+4A>G | Hereditary cancer-predisposing syndrome [RCV003384129] | uncertain significance | 11 | 64807548 | 64807548 | Human | 1 | name |
| 405040177 | CV2861454 | single nucleotide variant | NM_001370259.2(MEN1):c.445+1G>A | Multiple endocrine neoplasia, type 1 [RCV003517904] | likely pathogenic | 11 | 64809664 | 64809664 | Human | 1 | name |
| 405042647 | CV2878185 | single nucleotide variant | NM_001370259.2(MEN1):c.446-5C>A | Multiple endocrine neoplasia, type 1 [RCV003518145] | likely benign | 11 | 64808104 | 64808104 | Human | 1 | name |
| 405049780 | CV2898672 | single nucleotide variant | NM_001370259.2(MEN1):c.446-3C>G | Multiple endocrine neoplasia, type 1 [RCV003518784] | pathogenic | 11 | 64808102 | 64808102 | Human | 1 | name |
| 405030471 | CV2903803 | single nucleotide variant | NM_001370259.2(MEN1):c.783+6G>C | Multiple endocrine neoplasia, type 1 [RCV003516778] | uncertain significance | 11 | 64807546 | 64807546 | Human | 1 | name |
| 405029938 | CV2906628 | single nucleotide variant | NM_001370259.2(MEN1):c.784-4C>T | Hereditary cancer-predisposing syndrome [RCV004369330]|Multiple endocrine neoplasia, type 1 [RCV003516731] | likely benign | 11 | 64807223 | 64807223 | Human | 2 | name |
| 405053882 | CV2971220 | single nucleotide variant | NM_001370259.2(MEN1):c.446-9C>T | Multiple endocrine neoplasia, type 1 [RCV003631601] | likely benign | 11 | 64808108 | 64808108 | Human | 1 | name |
| 405055573 | CV2985298 | single nucleotide variant | NM_001370259.2(MEN1):c.655-9C>T | Multiple endocrine neoplasia, type 1 [RCV003631764] | likely benign | 11 | 64807689 | 64807689 | Human | 1 | name |
| 405059859 | CV3006625 | single nucleotide variant | NM_001370259.2(MEN1):c.784-2A>T | Multiple endocrine neoplasia, type 1 [RCV003632115] | likely pathogenic | 11 | 64807221 | 64807221 | Human | 1 | name |
| 402500537 | CV3170528 | single nucleotide variant | NM_001370259.2(MEN1):c.824+9A>C | Multiple endocrine neoplasia, type 1 [RCV003877901] | likely benign | 11 | 64807170 | 64807170 | Human | 1 | name |
| 8565779 | CV31749 | single nucleotide variant | NM_001370259.2(MEN1):c.824+1G>A | Hereditary cancer-predisposing syndrome [RCV002426511]|Multiple endocrine neoplasia, type 1 [RCV000018190] | pathogenic | 11 | 64807178 | 64807178 | Human | 2 | name |
| 405712055 | CV3231795 | single nucleotide variant | NM_001370259.2(MEN1):c.913-5T>C | Hereditary cancer-predisposing syndrome [RCV004943278]|Multiple endocrine neoplasia, type 1 [RCV004011825] | likely benign|uncertain significance | 11 | 64806373 | 64806373 | Human | 2 | name |
| 407426051 | CV3413176 | single nucleotide variant | NM_001370259.2(MEN1):c.824+2T>C | Multiple endocrine neoplasia, type 1 [RCV004589352] | likely pathogenic | 11 | 64807177 | 64807177 | Human | 1 | name |
| 407574160 | CV3498509 | single nucleotide variant | NM_001370259.2(MEN1):c.912+2T>A | Multiple endocrine neoplasia, type 1 [RCV004702984] | likely pathogenic | 11 | 64807009 | 64807009 | Human | 1 | name |
| 597649963 | CV3556601 | single nucleotide variant | NM_001370259.2(MEN1):c.446-4A>G | Hereditary cancer-predisposing syndrome [RCV004943337] | likely benign | 11 | 64808103 | 64808103 | Human | 1 | name |
| 597650200 | CV3556655 | single nucleotide variant | NM_001370259.2(MEN1):c.913-2A>C | Hereditary cancer-predisposing syndrome [RCV004943390] | likely pathogenic | 11 | 64806370 | 64806370 | Human | 1 | name |
| 12738973 | CV358841 | duplication | NM_001370259.2(MEN1):c.655-5dup | Hereditary cancer-predisposing syndrome [RCV002256225]|Multiple endocrine neoplasia, type 1 [RCV000411902]|not provided [RCV001706621]|not specified [RCV003321585] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 64807684 | 64807685 | Human | 2 | name |
| 12742872 | CV360059 | single nucleotide variant | NM_001370259.2(MEN1):c.913-1G>A | Hereditary cancer-predisposing syndrome [RCV001018907]|Multiple endocrine neoplasia, type 1 [RCV001851002]|not provided [RCV000414731] | pathogenic|likely pathogenic | 11 | 64806369 | 64806369 | Human | 2 | name |
| 12741926 | CV360931 | deletion | NM_001370259.2(MEN1):c.654+1del | Gastrointestinal stromal tumor [RCV000415413] | pathogenic | 11 | 64807890 | 64807890 | Human | 2 | name |
| 12849455 | CV374177 | single nucleotide variant | NM_001370259.2(MEN1):c.783+2T>G | not provided [RCV000430267] | likely pathogenic | 11 | 64807550 | 64807550 | Human | | name |
| 597878035 | CV3776230 | single nucleotide variant | NM_001370259.2(MEN1):c.445+7G>A | Multiple endocrine neoplasia, type 1 [RCV005123758] | likely benign | 11 | 64809658 | 64809658 | Human | 1 | name |
| 597912633 | CV3817309 | single nucleotide variant | NM_001370259.2(MEN1):c.824+5G>C | Multiple endocrine neoplasia, type 1 [RCV005154511] | uncertain significance | 11 | 64807174 | 64807174 | Human | 1 | name |
| 597968692 | CV3821012 | single nucleotide variant | NM_001370259.2(MEN1):c.912+7G>A | Multiple endocrine neoplasia, type 1 [RCV005165853] | likely benign | 11 | 64807004 | 64807004 | Human | 1 | name |
| 597969141 | CV3821398 | single nucleotide variant | NM_001370259.2(MEN1):c.655-4T>C | Multiple endocrine neoplasia, type 1 [RCV005166040] | likely benign | 11 | 64807684 | 64807684 | Human | 1 | name |
| 598121479 | CV3889502 | single nucleotide variant | NM_001370259.2(MEN1):c.654+4T>A | Multiple endocrine neoplasia, type 1 [RCV005247604] | likely benign | 11 | 64807887 | 64807887 | Human | 1 | name |
| 598121507 | CV3889530 | single nucleotide variant | NM_001370259.2(MEN1):c.825-5C>T | Multiple endocrine neoplasia, type 1 [RCV005247632] | likely benign | 11 | 64807103 | 64807103 | Human | 1 | name |
| 598121521 | CV3889544 | single nucleotide variant | NM_001370259.2(MEN1):c.445+8C>T | Multiple endocrine neoplasia, type 1 [RCV005247646] | likely benign | 11 | 64809657 | 64809657 | Human | 1 | name |
| 598121553 | CV3889576 | single nucleotide variant | NM_001370259.2(MEN1):c.912+3G>A | Multiple endocrine neoplasia, type 1 [RCV005247678] | likely benign | 11 | 64807008 | 64807008 | Human | 1 | name |
| 598121570 | CV3889593 | single nucleotide variant | NM_001370259.2(MEN1):c.784-9G>T | Multiple endocrine neoplasia, type 1 [RCV005247695] | likely benign | 11 | 64807228 | 64807228 | Human | 1 | name |
| 12886312 | CV398303 | single nucleotide variant | NM_001370259.2(MEN1):c.824+1G>T | Multiple endocrine neoplasia, type 1 [RCV000466988] | pathogenic | 11 | 64807178 | 64807178 | Human | 1 | name |
| 12887380 | CV398305 | single nucleotide variant | NM_001370259.2(MEN1):c.783+7G>A | Multiple endocrine neoplasia, type 1 [RCV001417870] | likely benign | 11 | 64807545 | 64807545 | Human | 1 | name |
| 12883515 | CV398317 | single nucleotide variant | NM_001370259.2(MEN1):c.654+9C>T | MEN1-related disorder [RCV003912815]|Multiple endocrine neoplasia, type 1 [RCV000461750] | likely benign | 11 | 64807882 | 64807882 | Human | 2 | name , alternate_id |
| 12894933 | CV408407 | single nucleotide variant | NM_001370259.2(MEN1):c.824+5G>A | not provided [RCV000484677] | likely pathogenic | 11 | 64807174 | 64807174 | Human | | name |
| 12898790 | CV408409 | single nucleotide variant | NM_001370259.2(MEN1):c.654+3A>T | not provided [RCV000478699]|not specified [RCV002271508] | likely pathogenic|uncertain significance | 11 | 64807888 | 64807888 | Human | | name |
| 12895593 | CV408412 | single nucleotide variant | NM_001370259.2(MEN1):c.446-1G>A | Hereditary cancer-predisposing syndrome [RCV001022519]|Multiple endocrine neoplasia, type 1 [RCV001851155]|not provided [RCV000487061] | pathogenic | 11 | 64808100 | 64808100 | Human | 2 | name |
| 12912589 | CV419823 | single nucleotide variant | NM_001370259.2(MEN1):c.913-2A>G | Hereditary cancer-predisposing syndrome [RCV000492022]|Multiple endocrine neoplasia, type 1 [RCV000632096] | pathogenic|likely pathogenic | 11 | 64806370 | 64806370 | Human | 2 | name |
| 12911388 | CV419824 | single nucleotide variant | NM_001370259.2(MEN1):c.912+1G>C | Hereditary cancer-predisposing syndrome [RCV000490972]|Multiple endocrine neoplasia, type 1 [RCV000552470] | pathogenic|likely pathogenic | 11 | 64807010 | 64807010 | Human | 2 | name |
| 12912070 | CV419826 | single nucleotide variant | NM_001370259.2(MEN1):c.825-1G>A | Hereditary cancer-predisposing syndrome [RCV000490857] | likely pathogenic | 11 | 64807099 | 64807099 | Human | 1 | name |
| 12911434 | CV419827 | single nucleotide variant | NM_001370259.2(MEN1):c.824+1G>C | Hereditary cancer-predisposing syndrome [RCV000491420] | likely pathogenic | 11 | 64807178 | 64807178 | Human | 1 | name |
| 12912373 | CV419829 | single nucleotide variant | NM_001370259.2(MEN1):c.784-2A>G | Hereditary cancer-predisposing syndrome [RCV000491529] | pathogenic | 11 | 64807221 | 64807221 | Human | 1 | name |
| 12911450 | CV419830 | single nucleotide variant | NM_001370259.2(MEN1):c.783+1G>A | Hereditary cancer-predisposing syndrome [RCV000491531]|Multiple endocrine neoplasia, type 1 [RCV000697334]|not specified [RCV000506752] | pathogenic|likely pathogenic | 11 | 64807551 | 64807551 | Human | 2 | name |
| 12911412 | CV419842 | single nucleotide variant | NM_001370259.2(MEN1):c.446-2A>G | Hereditary cancer-predisposing syndrome [RCV000491191]|Multiple endocrine neoplasia, type 1 [RCV000696685]|not provided [RCV002475967] | pathogenic|likely pathogenic | 11 | 64808101 | 64808101 | Human | 2 | name |
| 12911374 | CV419843 | single nucleotide variant | NM_001370259.2(MEN1):c.446-3C>A | Hereditary cancer-predisposing syndrome [RCV000490866]|Multiple endocrine neoplasia, type 1 [RCV000531853] | uncertain significance | 11 | 64808102 | 64808102 | Human | 2 | name |
| 13211653 | CV425938 | single nucleotide variant | NM_001370259.2(MEN1):c.912+2T>C | not provided [RCV000497734] | pathogenic | 11 | 64807009 | 64807009 | Human | | name |
| 13437006 | CV433092 | single nucleotide variant | NM_001370259.2(MEN1):c.913-4C>T | Hereditary cancer-predisposing syndrome [RCV004943938]|Multiple endocrine neoplasia, type 1 [RCV000533306]|not specified [RCV000508136] | likely benign | 11 | 64806372 | 64806372 | Human | 2 | name |
| 13479152 | CV444851 | single nucleotide variant | NM_001370259.2(MEN1):c.784-1G>C | Multiple endocrine neoplasia, type 1 [RCV000794756]|not provided [RCV000520872] | pathogenic|likely pathogenic | 11 | 64807220 | 64807220 | Human | 1 | name |
| 13473648 | CV461315 | single nucleotide variant | NM_001370259.2(MEN1):c.655-7C>A | Multiple endocrine neoplasia, type 1 [RCV000547893] | uncertain significance | 11 | 64807687 | 64807687 | Human | 1 | name |
| 13476169 | CV461822 | single nucleotide variant | NM_001370259.2(MEN1):c.825-8T>C | Multiple endocrine neoplasia, type 1 [RCV000526614] | likely benign | 11 | 64807106 | 64807106 | Human | 1 | name |
| 8570634 | CV48362 | single nucleotide variant | NM_001370259.2(MEN1):c.654+1G>A | Hereditary cancer-predisposing syndrome [RCV002362604]|Multiple endocrine neoplasia, type 1 [RCV000032982]|not provided [RCV002510773] | pathogenic | 11 | 64807890 | 64807890 | Human | 2 | name |
| 13614607 | CV526361 | single nucleotide variant | NM_001370259.2(MEN1):c.654+9C>A | Multiple endocrine neoplasia, type 1 [RCV000632159] | likely benign | 11 | 64807882 | 64807882 | Human | 1 | name |
| 13614622 | CV526372 | single nucleotide variant | NM_001370259.2(MEN1):c.446-9C>A | Multiple endocrine neoplasia, type 1 [RCV000632170] | likely benign | 11 | 64808108 | 64808108 | Human | 1 | name |
| 13614621 | CV526649 | single nucleotide variant | NM_001370259.2(MEN1):c.654+9C>G | Multiple endocrine neoplasia, type 1 [RCV000632169] | likely benign | 11 | 64807882 | 64807882 | Human | 1 | name |
| 14736742 | CV652225 | single nucleotide variant | NM_001370259.2(MEN1):c.446-1G>C | Multiple endocrine neoplasia, type 1 [RCV000820156] | pathogenic | 11 | 64808100 | 64808100 | Human | 1 | name |
| 14714596 | CV652340 | single nucleotide variant | NM_001370259.2(MEN1):c.912+5G>A | Multiple endocrine neoplasia, type 1 [RCV000794481] | uncertain significance | 11 | 64807006 | 64807006 | Human | 1 | name |
| 14735141 | CV652591 | single nucleotide variant | NM_001370259.2(MEN1):c.655-1G>A | Multiple endocrine neoplasia, type 1 [RCV000819459] | pathogenic | 11 | 64807681 | 64807681 | Human | 1 | name |
| 15122073 | CV695533 | single nucleotide variant | NM_001370259.2(MEN1):c.913-8C>T | Multiple endocrine neoplasia, type 1 [RCV001448716] | benign|likely benign | 11 | 64806376 | 64806376 | Human | 1 | name |
| 15165657 | CV730787 | single nucleotide variant | NM_001370259.2(MEN1):c.824+9A>G | Multiple endocrine neoplasia, type 1 [RCV002065477] | likely benign | 11 | 64807170 | 64807170 | Human | 1 | name |
| 21405328 | CV799658 | single nucleotide variant | NM_001370259.2(MEN1):c.783+1G>C | Hereditary cancer-predisposing syndrome [RCV002409331]|Multiple endocrine neoplasia, type 1 [RCV001000126] | pathogenic | 11 | 64807551 | 64807551 | Human | 2 | name |
| 25326753 | CV815505 | single nucleotide variant | NM_001370259.2(MEN1):c.783+5G>A | Hereditary cancer-predisposing syndrome [RCV001026855] | uncertain significance | 11 | 64807547 | 64807547 | Human | 1 | name |
| 25325153 | CV815506 | single nucleotide variant | NM_001370259.2(MEN1):c.655-1G>C | Hereditary cancer-predisposing syndrome [RCV001025404]|Multiple endocrine neoplasia, type 1 [RCV001862323]|not provided [RCV002281151] | pathogenic|likely pathogenic | 11 | 64807681 | 64807681 | Human | 2 | name |
| 25325159 | CV815507 | single nucleotide variant | NM_001370259.2(MEN1):c.655-5C>A | Hereditary cancer-predisposing syndrome [RCV001025408]|Multiple endocrine neoplasia, type 1 [RCV001068075] | uncertain significance | 11 | 64807685 | 64807685 | Human | 2 | name |
| 26902972 | CV851447 | single nucleotide variant | NM_001370259.2(MEN1):c.654+4T>C | Multiple endocrine neoplasia, type 1 [RCV001036068] | uncertain significance | 11 | 64807887 | 64807887 | Human | 1 | name |
| 26915134 | CV851889 | single nucleotide variant | NM_001370259.2(MEN1):c.783+5G>T | Multiple endocrine neoplasia, type 1 [RCV001041154] | uncertain significance | 11 | 64807547 | 64807547 | Human | 1 | name |
| 26916784 | CV851891 | single nucleotide variant | NM_001370259.2(MEN1):c.654+5T>C | Hereditary cancer-predisposing syndrome [RCV002365715]|Multiple endocrine neoplasia, type 1 [RCV001056574] | likely benign|uncertain significance | 11 | 64807886 | 64807886 | Human | 2 | name |
| 26921724 | CV851893 | single nucleotide variant | NM_001370259.2(MEN1):c.654+3A>G | Multiple endocrine neoplasia, type 1 [RCV001061257] | likely pathogenic | 11 | 64807888 | 64807888 | Human | 1 | name |
| 26914474 | CV851895 | single nucleotide variant | NM_001370259.2(MEN1):c.446-6C>A | Multiple endocrine neoplasia, type 1 [RCV001054998] | likely benign|uncertain significance | 11 | 64808105 | 64808105 | Human | 1 | name |
| 26886347 | CV852379 | single nucleotide variant | NM_001370259.2(MEN1):c.824+3C>G | Multiple endocrine neoplasia, type 1 [RCV001066013] | uncertain significance | 11 | 64807176 | 64807176 | Human | 1 | name |
| 26884770 | CV852380 | single nucleotide variant | NM_001370259.2(MEN1):c.784-1G>A | Multiple endocrine neoplasia, type 1 [RCV001043139] | likely pathogenic | 11 | 64807220 | 64807220 | Human | 1 | name |
| 26884902 | CV852621 | single nucleotide variant | NM_001370259.2(MEN1):c.445+4G>A | Multiple endocrine neoplasia, type 1 [RCV001043217] | uncertain significance | 11 | 64809661 | 64809661 | Human | 1 | name |
| 38487392 | CV940227 | single nucleotide variant | NM_001370259.2(MEN1):c.912+6G>T | Multiple endocrine neoplasia, type 1 [RCV001209296] | uncertain significance | 11 | 64807005 | 64807005 | Human | 1 | name |
| 38489233 | CV941005 | single nucleotide variant | NM_001370259.2(MEN1):c.654+6G>T | Multiple endocrine neoplasia, type 1 [RCV001221549] | uncertain significance | 11 | 64807885 | 64807885 | Human | 1 | name |
| 38478587 | CV960003 | single nucleotide variant | NM_001370259.2(MEN1):c.445+5G>A | Multiple endocrine neoplasia, type 1 [RCV001233955] | uncertain significance | 11 | 64809660 | 64809660 | Human | 1 | name |
| 41405003 | CV981746 | single nucleotide variant | NM_001370259.2(MEN1):c.655-2A>C | not provided [RCV001812328] | pathogenic | 11 | 64807682 | 64807682 | Human | | name |
| 127271305 | CV1062421 | single nucleotide variant | NM_001370259.2(MEN1):c.1351-1G>T | Multiple endocrine neoplasia, type 1 [RCV001390118] | pathogenic | 11 | 64804817 | 64804817 | Human | 1 | name |
| 127237329 | CV1078481 | single nucleotide variant | NM_001370259.2(MEN1):c.1351-8T>C | Multiple endocrine neoplasia, type 1 [RCV001397097] | likely benign | 11 | 64804824 | 64804824 | Human | 1 | name |
| 127256542 | CV1078486 | single nucleotide variant | NM_001370259.2(MEN1):c.913-10C>T | Multiple endocrine neoplasia, type 1 [RCV001419069] | likely benign | 11 | 64806378 | 64806378 | Human | 1 | name |
| 127282901 | CV1078493 | single nucleotide variant | NM_001370259.2(MEN1):c.445+10C>T | Multiple endocrine neoplasia, type 1 [RCV001411450] | likely benign | 11 | 64809655 | 64809655 | Human | 1 | name |
| 127237139 | CV1100219 | single nucleotide variant | NM_001370259.2(MEN1):c.1186-7C>G | Multiple endocrine neoplasia, type 1 [RCV001433482] | likely benign | 11 | 64805205 | 64805205 | Human | 1 | name |
| 127278513 | CV1100224 | single nucleotide variant | NM_001370259.2(MEN1):c.654+10C>A | Multiple endocrine neoplasia, type 1 [RCV001445117] | likely benign | 11 | 64807881 | 64807881 | Human | 1 | name |
| 127295269 | CV1121711 | single nucleotide variant | NM_001370259.2(MEN1):c.1050-7C>T | Multiple endocrine neoplasia, type 1 [RCV001452455] | likely benign | 11 | 64805777 | 64805777 | Human | 1 | name |
| 127334298 | CV1142544 | single nucleotide variant | NM_001370259.2(MEN1):c.1350+7G>A | Multiple endocrine neoplasia, type 1 [RCV001490747] | likely benign | 11 | 64805027 | 64805027 | Human | 1 | name |
| 127318272 | CV1142546 | single nucleotide variant | NM_001370259.2(MEN1):c.1186-5T>C | Multiple endocrine neoplasia, type 1 [RCV001483474] | likely benign | 11 | 64805203 | 64805203 | Human | 1 | name |
| 127293379 | CV1142557 | single nucleotide variant | NM_001370259.2(MEN1):c.783+10G>C | Multiple endocrine neoplasia, type 1 [RCV001496763] | likely benign | 11 | 64807542 | 64807542 | Human | 1 | name |
| 150333510 | CV1172279 | single nucleotide variant | NM_001370259.2(MEN1):c.654+82C>T | not provided [RCV001539533] | benign | 11 | 64807809 | 64807809 | Human | | name |
| 150536311 | CV1309455 | single nucleotide variant | NM_001370259.2(MEN1):c.445+29C>T | not provided [RCV003238519] | uncertain significance | 11 | 64809636 | 64809636 | Human | | name |
| 8689950 | CV139877 | single nucleotide variant | NM_001370259.2(MEN1):c.1186-7C>T | Multiple endocrine neoplasia, type 1 [RCV000123381] | likely benign|uncertain significance | 11 | 64805205 | 64805205 | Human | 1 | name |
| 151803262 | CV1422519 | single nucleotide variant | NM_001370259.2(MEN1):c.1050-3C>T | Hereditary cancer-predisposing syndrome [RCV003167001]|Multiple endocrine neoplasia, type 1 [RCV001927281] | uncertain significance | 11 | 64805773 | 64805773 | Human | 2 | name |
| 151825828 | CV1503994 | single nucleotide variant | NM_001370259.2(MEN1):c.1185+6A>G | Multiple endocrine neoplasia, type 1 [RCV001973727] | uncertain significance | 11 | 64805629 | 64805629 | Human | 1 | name |
| 152051669 | CV1530908 | deletion | NM_001370259.2(MEN1):c.913-15del | Multiple endocrine neoplasia, type 1 [RCV002132976] | likely benign | 11 | 64806383 | 64806383 | Human | 1 | name |
| 152053658 | CV1533782 | single nucleotide variant | NM_001370259.2(MEN1):c.912+13A>G | Multiple endocrine neoplasia, type 1 [RCV002151029] | likely benign | 11 | 64806998 | 64806998 | Human | 1 | name |
| 152051110 | CV1543622 | single nucleotide variant | NM_001370259.2(MEN1):c.655-12T>C | Multiple endocrine neoplasia, type 1 [RCV002128038] | likely benign | 11 | 64807692 | 64807692 | Human | 1 | name |
| 152054358 | CV1549797 | single nucleotide variant | NM_001370259.2(MEN1):c.824+19C>G | Multiple endocrine neoplasia, type 1 [RCV002156656] | likely benign | 11 | 64807160 | 64807160 | Human | 1 | name |
| 152053448 | CV1558602 | deletion | NM_001370259.2(MEN1):c.824+12del | Multiple endocrine neoplasia, type 1 [RCV002149395] | likely benign | 11 | 64807167 | 64807167 | Human | 1 | name |
| 152048010 | CV1560940 | duplication | NM_001370259.2(MEN1):c.654+18dup | Multiple endocrine neoplasia, type 1 [RCV002102849] | benign | 11 | 64807872 | 64807873 | Human | 1 | name |
| 152059084 | CV1563516 | single nucleotide variant | NM_001370259.2(MEN1):c.654+11C>T | Multiple endocrine neoplasia, type 1 [RCV002200254] | likely benign | 11 | 64807880 | 64807880 | Human | 1 | name |
| 152059106 | CV1563629 | single nucleotide variant | NM_001370259.2(MEN1):c.784-16C>G | Multiple endocrine neoplasia, type 1 [RCV002200367] | likely benign | 11 | 64807235 | 64807235 | Human | 1 | name |
| 152056279 | CV1563989 | single nucleotide variant | NM_001370259.2(MEN1):c.912+19G>A | Multiple endocrine neoplasia, type 1 [RCV002175953] | likely benign | 11 | 64806992 | 64806992 | Human | 1 | name |
| 152061378 | CV1567731 | duplication | NM_001370259.2(MEN1):c.655-12dup | Multiple endocrine neoplasia, type 1 [RCV002218015] | likely benign | 11 | 64807691 | 64807692 | Human | 1 | name |
| 152061384 | CV1567986 | single nucleotide variant | NM_001370259.2(MEN1):c.654+15C>G | Multiple endocrine neoplasia, type 1 [RCV002218109] | likely benign | 11 | 64807876 | 64807876 | Human | 1 | name |
| 152053739 | CV1578750 | single nucleotide variant | NM_001370259.2(MEN1):c.913-13C>T | Multiple endocrine neoplasia, type 1 [RCV002151750] | likely benign | 11 | 64806381 | 64806381 | Human | 1 | name |
| 152060123 | CV1583841 | single nucleotide variant | NM_001370259.2(MEN1):c.1049+8T>C | Multiple endocrine neoplasia, type 1 [RCV002208069] | likely benign | 11 | 64806224 | 64806224 | Human | 1 | name |
| 152046120 | CV1586785 | single nucleotide variant | NM_001370259.2(MEN1):c.654+17C>G | Multiple endocrine neoplasia, type 1 [RCV002085395] | likely benign | 11 | 64807874 | 64807874 | Human | 1 | name |
| 152049287 | CV1589287 | single nucleotide variant | NM_001370259.2(MEN1):c.825-11T>C | Multiple endocrine neoplasia, type 1 [RCV002112704] | likely benign | 11 | 64807109 | 64807109 | Human | 1 | name |
| 152052775 | CV1598913 | single nucleotide variant | NM_001370259.2(MEN1):c.654+16C>A | Multiple endocrine neoplasia, type 1 [RCV002143615] | likely benign | 11 | 64807875 | 64807875 | Human | 1 | name |
| 152055531 | CV1601417 | single nucleotide variant | NM_001370259.2(MEN1):c.654+18C>G | Multiple endocrine neoplasia, type 1 [RCV002168552] | likely benign | 11 | 64807873 | 64807873 | Human | 1 | name |
| 152047662 | CV1604814 | single nucleotide variant | NM_001370259.2(MEN1):c.446-18T>C | Multiple endocrine neoplasia, type 1 [RCV002099695] | likely benign | 11 | 64808117 | 64808117 | Human | 1 | name |
| 152060683 | CV1608575 | single nucleotide variant | NM_001370259.2(MEN1):c.655-11C>T | Multiple endocrine neoplasia, type 1 [RCV002212281] | likely benign | 11 | 64807691 | 64807691 | Human | 1 | name |
| 152050681 | CV1610397 | deletion | NM_001370259.2(MEN1):c.654+18del | Multiple endocrine neoplasia, type 1 [RCV002124958] | benign | 11 | 64807873 | 64807873 | Human | 1 | name |
| 152051205 | CV1612282 | single nucleotide variant | NM_001370259.2(MEN1):c.913-15C>T | Multiple endocrine neoplasia, type 1 [RCV002128776] | likely benign | 11 | 64806383 | 64806383 | Human | 1 | name |
| 152045696 | CV1613679 | single nucleotide variant | NM_001370259.2(MEN1):c.446-12C>T | Multiple endocrine neoplasia, type 1 [RCV002081844] | likely benign | 11 | 64808111 | 64808111 | Human | 1 | name |
| 152059993 | CV1618203 | single nucleotide variant | NM_001370259.2(MEN1):c.824+17G>C | Multiple endocrine neoplasia, type 1 [RCV002206638] | likely benign | 11 | 64807162 | 64807162 | Human | 1 | name |
| 152049253 | CV1620655 | single nucleotide variant | NM_001370259.2(MEN1):c.446-11C>G | Multiple endocrine neoplasia, type 1 [RCV002112622] | likely benign | 11 | 64808110 | 64808110 | Human | 1 | name |
| 152051315 | CV1629215 | single nucleotide variant | NM_001370259.2(MEN1):c.825-14T>C | Multiple endocrine neoplasia, type 1 [RCV002130110] | likely benign | 11 | 64807112 | 64807112 | Human | 1 | name |
| 152054453 | CV1631441 | single nucleotide variant | NM_001370259.2(MEN1):c.655-11C>G | Multiple endocrine neoplasia, type 1 [RCV002157457] | likely benign | 11 | 64807691 | 64807691 | Human | 1 | name |
| 152052035 | CV1633330 | single nucleotide variant | NM_001370259.2(MEN1):c.824+12G>A | Multiple endocrine neoplasia, type 1 [RCV002137063] | likely benign | 11 | 64807167 | 64807167 | Human | 1 | name |
| 152053591 | CV1638946 | single nucleotide variant | NM_001370259.2(MEN1):c.913-11C>T | Multiple endocrine neoplasia, type 1 [RCV002150296] | likely benign | 11 | 64806379 | 64806379 | Human | 1 | name |
| 152055229 | CV1640292 | single nucleotide variant | NM_001370259.2(MEN1):c.655-10C>T | Multiple endocrine neoplasia, type 1 [RCV002165957] | likely benign | 11 | 64807690 | 64807690 | Human | 1 | name |
| 152051803 | CV1651149 | single nucleotide variant | NM_001370259.2(MEN1):c.446-10C>A | Multiple endocrine neoplasia, type 1 [RCV002134478] | likely benign | 11 | 64808109 | 64808109 | Human | 1 | name |
| 152979429 | CV1676231 | single nucleotide variant | NM_001370259.2(MEN1):c.1350+1G>C | Multiple endocrine neoplasia, type 1 [RCV002245308] | pathogenic | 11 | 64805033 | 64805033 | Human | 1 | name |
| 153302514 | CV1689752 | duplication | NM_001370259.2(MEN1):c.825-35dup | not specified [RCV002268650] | likely benign | 11 | 64807132 | 64807133 | Human | | name |
| 153302515 | CV1689753 | single nucleotide variant | NM_001370259.2(MEN1):c.-23-13G>A | not specified [RCV002268651] | likely benign | 11 | 64810145 | 64810145 | Human | | name |
| 155721344 | CV1805538 | single nucleotide variant | NM_001370259.2(MEN1):c.1186-2A>G | Hereditary cancer-predisposing syndrome [RCV002338048] | uncertain significance | 11 | 64805200 | 64805200 | Human | 1 | name |
| 155678009 | CV1826283 | single nucleotide variant | NM_001370259.2(MEN1):c.1350+3G>A | Hereditary cancer-predisposing syndrome [RCV002387929]|Multiple endocrine neoplasia, type 1 [RCV003631259] | conflicting interpretations of pathogenicity|uncertain significance | 11 | 64805031 | 64805031 | Human | 2 | name |
| 155720149 | CV1837471 | single nucleotide variant | NM_001370259.2(MEN1):c.1049+2T>G | Hereditary cancer-predisposing syndrome [RCV002398758] | pathogenic | 11 | 64806230 | 64806230 | Human | 1 | name |
| 155720169 | CV1837474 | single nucleotide variant | NM_001370259.2(MEN1):c.1049+3G>A | Hereditary cancer-predisposing syndrome [RCV002398761]|Multiple endocrine neoplasia, type 1 [RCV005248720] | likely benign|uncertain significance | 11 | 64806229 | 64806229 | Human | 2 | name |
| 155799442 | CV1859820 | single nucleotide variant | NM_001370259.2(MEN1):c.-23-15C>G | not specified [RCV002466064] | likely benign | 11 | 64810147 | 64810147 | Human | | name |
| 156383293 | CV1886550 | single nucleotide variant | NM_001370259.2(MEN1):c.824+18G>A | Multiple endocrine neoplasia, type 1 [RCV003093471] | likely benign | 11 | 64807161 | 64807161 | Human | 1 | name |
| 156059127 | CV1928959 | single nucleotide variant | NM_001370259.2(MEN1):c.912+20G>T | Multiple endocrine neoplasia, type 1 [RCV002620886] | likely benign | 11 | 64806991 | 64806991 | Human | 1 | name |
| 156408412 | CV1957832 | single nucleotide variant | NM_001370259.2(MEN1):c.655-19G>A | Multiple endocrine neoplasia, type 1 [RCV002586510] | likely benign | 11 | 64807699 | 64807699 | Human | 1 | name |
| 10056859 | CV197527 | single nucleotide variant | NM_001370259.2(MEN1):c.1351-1G>C | Multiple endocrine neoplasia, type 1 [RCV000540660] | pathogenic|likely pathogenic | 11 | 64804817 | 64804817 | Human | 1 | name |
| 155966074 | CV1978055 | single nucleotide variant | NM_001370259.2(MEN1):c.824+16T>A | Multiple endocrine neoplasia, type 1 [RCV002616961] | likely benign | 11 | 64807163 | 64807163 | Human | 1 | name |
| 156405677 | CV1994522 | single nucleotide variant | NM_001370259.2(MEN1):c.1049+6G>A | Multiple endocrine neoplasia, type 1 [RCV002658366] | uncertain significance | 11 | 64806226 | 64806226 | Human | 1 | name |
| 156296574 | CV2005355 | single nucleotide variant | NM_001370259.2(MEN1):c.654+17C>A | Multiple endocrine neoplasia, type 1 [RCV002670976] | likely benign | 11 | 64807874 | 64807874 | Human | 1 | name |
| 155915298 | CV2063112 | single nucleotide variant | NM_001370259.2(MEN1):c.783+16A>G | Multiple endocrine neoplasia, type 1 [RCV002838016] | likely benign | 11 | 64807536 | 64807536 | Human | 1 | name |
| 10407504 | CV212936 | single nucleotide variant | NM_001370259.2(MEN1):c.1351-4C>T | Hereditary 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 significance | 11 | 64804820 | 64804820 | Human | 4 | name |
| 10407566 | CV212937 | single nucleotide variant | NM_001370259.2(MEN1):c.1351-8T>G | Multiple endocrine neoplasia, type 1 [RCV000198633] | likely benign|uncertain significance | 11 | 64804824 | 64804824 | Human | 1 | name |
| 10407697 | CV212939 | single nucleotide variant | NM_001370259.2(MEN1):c.1185+4A>G | Hereditary cancer-predisposing syndrome [RCV002336545]|MEN1-related disorder [RCV003407711]|Multiple endocrine neoplasia, type 1 [RCV000200321] | uncertain significance | 11 | 64805631 | 64805631 | Human | 3 | name , alternate_id |
| 155978887 | CV2132630 | single nucleotide variant | NM_001370259.2(MEN1):c.654+18C>A | Multiple endocrine neoplasia, type 1 [RCV002995996] | likely benign | 11 | 64807873 | 64807873 | Human | 1 | name |
| 156008946 | CV2175777 | single nucleotide variant | NM_001370259.2(MEN1):c.784-18C>G | Multiple endocrine neoplasia, type 1 [RCV003035135] | likely benign | 11 | 64807237 | 64807237 | Human | 1 | name |
| 156142158 | CV2177962 | single nucleotide variant | NM_001370259.2(MEN1):c.654+14C>T | Multiple endocrine neoplasia, type 1 [RCV003040075] | likely benign | 11 | 64807877 | 64807877 | Human | 1 | name |
| 156338442 | CV2179554 | single nucleotide variant | NM_001370259.2(MEN1):c.446-17A>G | Multiple endocrine neoplasia, type 1 [RCV003030151] | likely benign | 11 | 64808116 | 64808116 | Human | 1 | name |
| 156096265 | CV2183572 | single nucleotide variant | NM_001370259.2(MEN1):c.825-10C>T | Multiple endocrine neoplasia, type 1 [RCV003054552] | likely benign | 11 | 64807108 | 64807108 | Human | 1 | name |
| 156224312 | CV2183861 | single nucleotide variant | NM_001370259.2(MEN1):c.913-12A>C | Multiple endocrine neoplasia, type 1 [RCV003025315] | likely benign | 11 | 64806380 | 64806380 | Human | 1 | name |
| 11346295 | CV241176 | single nucleotide variant | NM_001370259.2(MEN1):c.1351-1G>A | Multiple endocrine neoplasia, type 1 [RCV000227993] | pathogenic|likely pathogenic | 11 | 64804817 | 64804817 | Human | 1 | name |
| 329848826 | CV2523574 | single nucleotide variant | NM_001370259.2(MEN1):c.1050-3C>G | MEN1-related disorder [RCV003395729]|Multiple endocrine neoplasia, type 1 [RCV003466041]|not provided [RCV003225588] | pathogenic|uncertain significance | 11 | 64805773 | 64805773 | Human | 2 | name , alternate_id |
| 329954467 | CV2669589 | single nucleotide variant | NM_001370259.2(MEN1):c.913-79T>A | Pituitary adenoma 5, multiple types [RCV003233052] | likely benign | 11 | 64806447 | 64806447 | Human | 1 | name |
| 401781033 | CV2734124 | single nucleotide variant | NM_001370259.2(MEN1):c.1186-4C>T | Hereditary cancer-predisposing syndrome [RCV003288359]|Multiple endocrine neoplasia, type 1 [RCV005102751] | likely benign | 11 | 64805202 | 64805202 | Human | 2 | name |
| 405037300 | CV2858124 | single nucleotide variant | NM_001370259.2(MEN1):c.654+15C>T | Multiple endocrine neoplasia, type 1 [RCV003517592] | likely benign | 11 | 64807876 | 64807876 | Human | 1 | name |
| 405041340 | CV2863332 | single nucleotide variant | NM_001370259.2(MEN1):c.1185+7G>A | Multiple endocrine neoplasia, type 1 [RCV003518047] | likely benign | 11 | 64805628 | 64805628 | Human | 1 | name |
| 405036585 | CV2863509 | single nucleotide variant | NM_001370259.2(MEN1):c.655-17T>A | Multiple endocrine neoplasia, type 1 [RCV003517514] | likely benign | 11 | 64807697 | 64807697 | Human | 1 | name |
| 405043971 | CV2871758 | single nucleotide variant | NM_001370259.2(MEN1):c.654+13C>A | Multiple endocrine neoplasia, type 1 [RCV003518195] | likely benign | 11 | 64807878 | 64807878 | Human | 1 | name |
| 405048417 | CV2887067 | single nucleotide variant | NM_001370259.2(MEN1):c.654+12T>A | Multiple endocrine neoplasia, type 1 [RCV003518663] | likely benign | 11 | 64807879 | 64807879 | Human | 1 | name |
| 405034433 | CV2918395 | single nucleotide variant | NM_001370259.2(MEN1):c.825-13G>A | Multiple endocrine neoplasia, type 1 [RCV003517109] | likely benign | 11 | 64807111 | 64807111 | Human | 1 | name |
| 405052485 | CV2938376 | single nucleotide variant | NM_001370259.2(MEN1):c.655-16C>G | Multiple endocrine neoplasia, type 1 [RCV003631419] | likely benign | 11 | 64807696 | 64807696 | Human | 1 | name |
| 405053311 | CV2959209 | single nucleotide variant | NM_001370259.2(MEN1):c.1185+8G>T | Multiple endocrine neoplasia, type 1 [RCV003631535] | likely benign | 11 | 64805627 | 64805627 | Human | 1 | name |
| 405057559 | CV2999256 | single nucleotide variant | NM_001370259.2(MEN1):c.654+17C>T | Multiple endocrine neoplasia, type 1 [RCV003631932] | likely benign | 11 | 64807874 | 64807874 | Human | 1 | name |
| 405066623 | CV3066449 | single nucleotide variant | NM_001370259.2(MEN1):c.913-16C>T | Multiple endocrine neoplasia, type 1 [RCV003632758] | likely benign | 11 | 64806384 | 64806384 | Human | 1 | name |
| 405068656 | CV3080941 | single nucleotide variant | NM_001370259.2(MEN1):c.446-13C>T | Multiple endocrine neoplasia, type 1 [RCV003632962] | likely benign | 11 | 64808112 | 64808112 | Human | 1 | name |
| 405134655 | CV3115595 | single nucleotide variant | NM_001370259.2(MEN1):c.446-12C>G | Multiple endocrine neoplasia, type 1 [RCV003816252] | likely benign | 11 | 64808111 | 64808111 | Human | 1 | name |
| 405180030 | CV3119817 | single nucleotide variant | NM_001370259.2(MEN1):c.912+18G>A | Multiple endocrine neoplasia, type 1 [RCV003819910] | likely benign | 11 | 64806993 | 64806993 | Human | 1 | name |
| 11656630 | CV314552 | single nucleotide variant | NM_001370259.2(MEN1):c.-23-14G>C | Hyperparathyroidism [RCV000398941]|MEN1-related disorder [RCV003977883]|Multiple endocrine neoplasia [RCV000335174] | benign|uncertain significance | 11 | 64810146 | 64810146 | Human | 4 | name , alternate_id |
| 8565776 | CV31746 | single nucleotide variant | NM_001370259.2(MEN1):c.1350+1G>A | Hereditary cancer-predisposing syndrome [RCV002381254]|Hyperparathyroidism 1 [RCV000018187]|Multiple endocrine neoplasia, type 1 [RCV003517126] | pathogenic | 11 | 64805033 | 64805033 | Human | 3 | name |
| 404982935 | CV3184264 | single nucleotide variant | NM_001370259.2(MEN1):c.824+10G>A | Multiple endocrine neoplasia, type 1 [RCV003880756] | likely benign | 11 | 64807169 | 64807169 | Human | 1 | name |
| 405292316 | CV3192370 | single nucleotide variant | NM_001370259.2(MEN1):c.-23-29G>C | MEN1-related disorder [RCV003929644] | likely benign | 11 | 64810161 | 64810161 | Human | | name , trait , alternate_id |
| 405272056 | CV3203102 | single nucleotide variant | NM_001370259.2(MEN1):c.-23-24T>A | MEN1-related disorder [RCV003914149] | likely benign | 11 | 64810156 | 64810156 | Human | | name , trait , alternate_id |
| 405288116 | CV3215066 | single nucleotide variant | NM_001370259.2(MEN1):c.-23-11T>G | MEN1-related disorder [RCV003924722] | likely benign | 11 | 64810143 | 64810143 | Human | | name , trait , alternate_id |
| 405854576 | CV3394223 | single nucleotide variant | NM_001370259.2(MEN1):c.1350+2T>G | Multiple endocrine neoplasia, type 1 [RCV004547435] | pathogenic | 11 | 64805032 | 64805032 | Human | 1 | name |
| 12833848 | CV372506 | single nucleotide variant | NM_001370259.2(MEN1):c.825-10C>G | Multiple endocrine neoplasia, type 1 [RCV000460067]|not specified [RCV000419286] | likely benign|uncertain significance | 11 | 64807108 | 64807108 | Human | 1 | name |
| 597950481 | CV3759701 | single nucleotide variant | NM_001370259.2(MEN1):c.655-13A>C | Multiple endocrine neoplasia, type 1 [RCV005079301] | likely benign | 11 | 64807693 | 64807693 | Human | 1 | name |
| 597833366 | CV3760433 | single nucleotide variant | NM_001370259.2(MEN1):c.446-20A>C | Multiple endocrine neoplasia, type 1 [RCV005085176] | likely benign | 11 | 64808119 | 64808119 | Human | 1 | name |
| 597946458 | CV3774881 | single nucleotide variant | NM_001370259.2(MEN1):c.446-14T>C | Multiple endocrine neoplasia, type 1 [RCV005119978] | likely benign | 11 | 64808113 | 64808113 | Human | 1 | name |
| 597944687 | CV3776662 | single nucleotide variant | NM_001370259.2(MEN1):c.1049+5G>C | Multiple endocrine neoplasia, type 1 [RCV005119518] | likely pathogenic | 11 | 64806227 | 64806227 | Human | 1 | name |
| 597881641 | CV3783781 | single nucleotide variant | NM_001370259.2(MEN1):c.784-20C>G | Multiple endocrine neoplasia, type 1 [RCV005124277] | likely benign | 11 | 64807239 | 64807239 | Human | 1 | name |
| 597881998 | CV3783856 | single nucleotide variant | NM_001370259.2(MEN1):c.655-17T>C | Multiple endocrine neoplasia, type 1 [RCV005124352] | likely benign | 11 | 64807697 | 64807697 | Human | 1 | name |
| 597887306 | CV3787569 | single nucleotide variant | NM_001370259.2(MEN1):c.1350+1G>T | Multiple endocrine neoplasia, type 1 [RCV005125135] | pathogenic | 11 | 64805033 | 64805033 | Human | 1 | name |
| 597963938 | CV3792081 | single nucleotide variant | NM_001370259.2(MEN1):c.784-14C>T | Multiple endocrine neoplasia, type 1 [RCV005139637] | likely benign | 11 | 64807233 | 64807233 | Human | 1 | name |
| 597968206 | CV3820861 | single nucleotide variant | NM_001370259.2(MEN1):c.784-20C>T | Multiple endocrine neoplasia, type 1 [RCV005165702] | likely benign | 11 | 64807239 | 64807239 | Human | 1 | name |
| 597846767 | CV3828056 | single nucleotide variant | NM_001370259.2(MEN1):c.446-10C>G | Multiple endocrine neoplasia, type 1 [RCV005173131] | likely benign | 11 | 64808109 | 64808109 | Human | 1 | name |
| 597908053 | CV3853657 | single nucleotide variant | NM_001370259.2(MEN1):c.655-16C>A | Multiple endocrine neoplasia, type 1 [RCV005203139] | likely benign | 11 | 64807696 | 64807696 | Human | 1 | name |
| 597918266 | CV3861510 | single nucleotide variant | NM_001370259.2(MEN1):c.655-20T>C | Multiple endocrine neoplasia, type 1 [RCV005204667] | likely benign | 11 | 64807700 | 64807700 | Human | 1 | name |
| 597921849 | CV3861832 | single nucleotide variant | NM_001370259.2(MEN1):c.912+20G>A | Multiple endocrine neoplasia, type 1 [RCV005205208] | likely benign | 11 | 64806991 | 64806991 | Human | 1 | name |
| 598121311 | CV3889335 | single nucleotide variant | NM_001370259.2(MEN1):c.655-18A>T | Multiple endocrine neoplasia, type 1 [RCV005246444] | likely benign | 11 | 64807698 | 64807698 | Human | 1 | name |
| 598121316 | CV3889340 | single nucleotide variant | NM_001370259.2(MEN1):c.783+10G>A | Multiple endocrine neoplasia, type 1 [RCV005246449] | likely benign | 11 | 64807542 | 64807542 | Human | 1 | name |
| 598121353 | CV3889377 | single nucleotide variant | NM_001370259.2(MEN1):c.913-12A>G | Multiple endocrine neoplasia, type 1 [RCV005246486] | likely benign | 11 | 64806380 | 64806380 | Human | 1 | name |
| 598121357 | CV3889381 | deletion | NM_001370259.2(MEN1):c.825-18del | Multiple endocrine neoplasia, type 1 [RCV005246490] | likely benign | 11 | 64807116 | 64807116 | Human | 1 | name |
| 598121361 | CV3889385 | single nucleotide variant | NM_001370259.2(MEN1):c.655-18A>G | Multiple endocrine neoplasia, type 1 [RCV005246494] | likely benign | 11 | 64807698 | 64807698 | Human | 1 | name |
| 598121461 | CV3889484 | duplication | NM_001370259.2(MEN1):c.825-16dup | Multiple endocrine neoplasia, type 1 [RCV005247586] | likely benign | 11 | 64807113 | 64807114 | Human | 1 | name |
| 598121462 | CV3889485 | single nucleotide variant | NM_001370259.2(MEN1):c.825-20G>A | Multiple endocrine neoplasia, type 1 [RCV005247587] | likely benign | 11 | 64807118 | 64807118 | Human | 1 | name |
| 598121489 | CV3889512 | single nucleotide variant | NM_001370259.2(MEN1):c.1350+8A>G | Multiple endocrine neoplasia, type 1 [RCV005247614] | likely benign | 11 | 64805026 | 64805026 | Human | 1 | name |
| 598121492 | CV3889515 | single nucleotide variant | NM_001370259.2(MEN1):c.784-13C>T | Multiple endocrine neoplasia, type 1 [RCV005247617] | likely benign | 11 | 64807232 | 64807232 | Human | 1 | name |
| 598121510 | CV3889533 | single nucleotide variant | NM_001370259.2(MEN1):c.1185+7G>C | Multiple endocrine neoplasia, type 1 [RCV005247635] | likely benign | 11 | 64805628 | 64805628 | Human | 1 | name |
| 598121518 | CV3889541 | single nucleotide variant | NM_001370259.2(MEN1):c.825-13G>T | Multiple endocrine neoplasia, type 1 [RCV005247643] | likely benign | 11 | 64807111 | 64807111 | Human | 1 | name |
| 598121544 | CV3889567 | single nucleotide variant | NM_001370259.2(MEN1):c.655-16C>T | Multiple endocrine neoplasia, type 1 [RCV005247669] | likely benign | 11 | 64807696 | 64807696 | Human | 1 | name |
| 598205356 | CV3896821 | single nucleotide variant | NM_001370259.2(MEN1):c.-23-22C>A | Multiple endocrine neoplasia, type 1 [RCV005356997] | likely pathogenic | 11 | 64810154 | 64810154 | Human | 1 | name |
| 12881416 | CV398372 | single nucleotide variant | NM_001370259.2(MEN1):c.1351-2A>G | Multiple endocrine neoplasia, type 1 [RCV000457794] | pathogenic|likely pathogenic | 11 | 64804818 | 64804818 | Human | 1 | name |
| 12881156 | CV398719 | single nucleotide variant | NM_001370259.2(MEN1):c.1049+9C>A | Multiple endocrine neoplasia, type 1 [RCV000457328] | likely benign | 11 | 64806223 | 64806223 | Human | 1 | name |
| 12892247 | CV398744 | single nucleotide variant | NM_001370259.2(MEN1):c.654+10C>T | Multiple endocrine neoplasia, type 1 [RCV000461965] | likely benign | 11 | 64807881 | 64807881 | Human | 1 | name |
| 12882390 | CV398852 | single nucleotide variant | NM_001370259.2(MEN1):c.1186-6G>A | Hereditary cancer-predisposing syndrome [RCV002255399]|Multiple endocrine neoplasia, type 1 [RCV001082032]|not specified [RCV000504111] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 64805204 | 64805204 | Human | 2 | name |
| 12891054 | CV398875 | single nucleotide variant | NM_001370259.2(MEN1):c.784-10C>T | Multiple endocrine neoplasia, type 1 [RCV000475847]|not provided [RCV004722801]|not specified [RCV003387850] | benign|likely benign|uncertain significance | 11 | 64807229 | 64807229 | Human | 1 | name |
| 12912118 | CV419812 | single nucleotide variant | NM_001370259.2(MEN1):c.1049+1G>C | Hereditary cancer-predisposing syndrome [RCV000490962]|Multiple endocrine neoplasia, type 1 [RCV003517206]|not provided [RCV000521633] | pathogenic|likely pathogenic | 11 | 64806231 | 64806231 | Human | 2 | name |
| 13436891 | CV433095 | single nucleotide variant | NM_001370259.2(MEN1):c.-23-16C>G | not provided [RCV001637056] | benign | 11 | 64810148 | 64810148 | Human | | name |
| 8569643 | CV45181 | single nucleotide variant | NM_001370259.2(MEN1):c.1049+9C>T | Hereditary 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 provided | 11 | 64806223 | 64806223 | Human | 4 | name |
| 8569659 | CV45197 | single nucleotide variant | NM_001370259.2(MEN1):c.654+18C>T | Multiple endocrine neoplasia, type 1 [RCV000030208]|not specified [RCV000606793] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 64807873 | 64807873 | Human | 1 | name |
| 13493777 | CV461283 | deletion | NM_001370259.2(MEN1):c.1186-8del | Multiple endocrine neoplasia, type 1 [RCV000558432] | likely benign | 11 | 64805206 | 64805206 | Human | 1 | name |
| 13485026 | CV461453 | single nucleotide variant | NM_001370259.2(MEN1):c.1351-6G>A | Multiple endocrine neoplasia, type 1 [RCV000553033] | likely benign | 11 | 64804822 | 64804822 | Human | 1 | name |
| 13489542 | CV461805 | single nucleotide variant | NM_001370259.2(MEN1):c.1049+9C>G | Multiple endocrine neoplasia, type 1 [RCV000555401] | likely benign | 11 | 64806223 | 64806223 | Human | 1 | name |
| 13473063 | CV462140 | single nucleotide variant | NM_001370259.2(MEN1):c.1350+2T>C | Multiple endocrine neoplasia, type 1 [RCV000547647] | pathogenic|likely pathogenic | 11 | 64805032 | 64805032 | Human | 1 | name |
| 13614556 | CV526627 | single nucleotide variant | NM_001370259.2(MEN1):c.1049+1G>A | Hereditary cancer-predisposing syndrome [RCV002404747]|Multiple endocrine neoplasia [RCV003330850]|Multiple endocrine neoplasia, type 1 [RCV000632121] | pathogenic|not provided | 11 | 64806231 | 64806231 | Human | 3 | name |
| 13614608 | CV526880 | single nucleotide variant | NM_001370259.2(MEN1):c.1186-9C>T | Multiple endocrine neoplasia, type 1 [RCV000632160] | likely benign | 11 | 64805207 | 64805207 | Human | 1 | name |
| 13614517 | CV526885 | single nucleotide variant | NM_001370259.2(MEN1):c.784-10C>A | Multiple endocrine neoplasia, type 1 [RCV000632083] | uncertain significance | 11 | 64807229 | 64807229 | Human | 1 | name |
| 13704423 | CV537878 | single nucleotide variant | NM_001370259.2(MEN1):c.1049+2T>C | Multiple endocrine neoplasia, type 1 [RCV000659845] | pathogenic|likely pathogenic | 11 | 64806230 | 64806230 | Human | 1 | name |
| 13706957 | CV539303 | single nucleotide variant | NM_001370259.2(MEN1):c.913-42G>C | Hereditary cancer-predisposing syndrome [RCV002258999]|Multiple endocrine neoplasia, type 1 [RCV000663275]|Pituitary dependent hypercortisolism [RCV003230273]|not provided [RCV003311876] | benign | 11 | 64806410 | 64806410 | Human | 3 | name |
| 13706805 | CV539304 | single nucleotide variant | NM_001370259.2(MEN1):c.784-16C>T | Multiple endocrine neoplasia, type 1 [RCV000662550] | likely benign | 11 | 64807235 | 64807235 | Human | 1 | name |
| 13796448 | CV551892 | duplication | NM_001370259.2(MEN1):c.-13_-7dup | not provided [RCV000679244] | likely benign | 11 | 64810115 | 64810116 | Human | | name |
| 13807978 | CV564825 | single nucleotide variant | NM_001370259.2(MEN1):c.1350+6G>A | Multiple endocrine neoplasia, type 1 [RCV000687059] | likely benign|uncertain significance | 11 | 64805028 | 64805028 | Human | 1 | name |
| 13802789 | CV565979 | single nucleotide variant | NM_001370259.2(MEN1):c.1050-2A>T | Multiple endocrine neoplasia, type 1 [RCV000698599] | pathogenic | 11 | 64805772 | 64805772 | Human | 1 | name |
| 13808520 | CV567422 | single nucleotide variant | NM_001370259.2(MEN1):c.1350+5G>A | Multiple endocrine neoplasia, type 1 [RCV000701682] | uncertain significance | 11 | 64805029 | 64805029 | Human | 1 | name |
| 13821930 | CV570781 | single nucleotide variant | NM_001370259.2(MEN1):c.1185+5A>G | Hereditary cancer-predisposing syndrome [RCV002334322]|Multiple endocrine neoplasia, type 1 [RCV000696574] | likely benign|uncertain significance | 11 | 64805630 | 64805630 | Human | 2 | name |
| 14732066 | CV652580 | single nucleotide variant | NM_001370259.2(MEN1):c.1351-9C>G | Multiple endocrine neoplasia, type 1 [RCV000801688] | pathogenic|uncertain significance | 11 | 64804825 | 64804825 | Human | 1 | name |
| 14730793 | CV652582 | single nucleotide variant | NM_001370259.2(MEN1):c.1050-2A>G | Multiple endocrine neoplasia, type 1 [RCV000801108] | pathogenic | 11 | 64805772 | 64805772 | Human | 1 | name |
| 15124705 | CV759919 | single nucleotide variant | NM_001370259.2(MEN1):c.912+10T>C | Multiple endocrine neoplasia, type 1 [RCV000919028] | likely benign | 11 | 64807001 | 64807001 | Human | 1 | name |
| 15131989 | CV759921 | single nucleotide variant | NM_001370259.2(MEN1):c.446-10C>T | Multiple endocrine neoplasia, type 1 [RCV001426994] | likely benign | 11 | 64808109 | 64808109 | Human | 1 | name |
| 21072032 | CV791151 | single nucleotide variant | NM_001370259.2(MEN1):c.-24+84C>G | Multiple endocrine neoplasia, type 1 [RCV000988575] | likely benign | 11 | 64810430 | 64810430 | Human | 1 | name |
| 25324010 | CV815503 | single nucleotide variant | NM_001370259.2(MEN1):c.1351-2A>C | Hereditary cancer-predisposing syndrome [RCV001011032]|Multiple endocrine neoplasia, type 1 [RCV003517291] | pathogenic|likely pathogenic | 11 | 64804818 | 64804818 | Human | 2 | name |
| 38476489 | CV960002 | single nucleotide variant | NM_001370259.2(MEN1):c.1350+5G>T | Multiple endocrine neoplasia, type 1 [RCV001233104] | uncertain significance | 11 | 64805029 | 64805029 | Human | 1 | name |
| 38597872 | CV964673 | single nucleotide variant | NM_001370259.2(MEN1):c.1185+1G>A | Multiple endocrine neoplasia, type 1 [RCV001253238] | conflicting interpretations of pathogenicity|uncertain significance | 11 | 64805634 | 64805634 | Human | 1 | name |
| 126760408 | CV994633 | single nucleotide variant | NM_001370259.2(MEN1):c.1351-7G>A | Multiple endocrine neoplasia, type 1 [RCV001309308] | uncertain significance | 11 | 64804823 | 64804823 | Human | 1 | name |
| 126727810 | CV994637 | single nucleotide variant | NM_001370259.2(MEN1):c.1185+3G>A | Multiple endocrine neoplasia, type 1 [RCV001303240] | uncertain significance | 11 | 64805632 | 64805632 | Human | 1 | name |
| 150500926 | CV1223596 | single nucleotide variant | NM_001370259.2(MEN1):c.445+183G>A | not provided [RCV001620717] | benign | 11 | 64809482 | 64809482 | Human | | name |
| 150508050 | CV1227042 | single nucleotide variant | NM_001370259.2(MEN1):c.912+283C>T | not provided [RCV001636115] | benign | 11 | 64806728 | 64806728 | Human | | name |
| 150446298 | CV1233319 | single nucleotide variant | NM_001370259.2(MEN1):c.1050-65T>A | not provided [RCV001645993] | benign | 11 | 64805835 | 64805835 | Human | | name |
| 150461455 | CV1275956 | single nucleotide variant | NM_001370259.2(MEN1):c.1050-71G>A | not provided [RCV001709894] | benign | 11 | 64805841 | 64805841 | Human | | name |
| 8688691 | CV139292 | single nucleotide variant | NM_001370259.2(MEN1):c.-23-135G>A | Multiple endocrine neoplasia, type 1 [RCV001294052]|not specified [RCV000122413] | uncertain significance|not provided | 11 | 64810267 | 64810267 | Human | 1 | name |
| 151709755 | CV1428556 | single nucleotide variant | NM_001370259.2(MEN1):c.1350+12C>A | Multiple endocrine neoplasia, type 1 [RCV001994764] | likely benign | 11 | 64805022 | 64805022 | Human | 1 | name |
| 151824791 | CV1436541 | single nucleotide variant | NM_001370259.2(MEN1):c.1049+13C>T | Multiple endocrine neoplasia, type 1 [RCV001971702] | likely benign | 11 | 64806219 | 64806219 | Human | 1 | name |
| 152054199 | CV1519578 | single nucleotide variant | NM_001370259.2(MEN1):c.784-129T>A | Multiple endocrine neoplasia, type 1 [RCV002155423]|Pituitary adenoma 5, multiple types [RCV003233039] | benign|likely benign | 11 | 64807348 | 64807348 | Human | 2 | name |
| 152046015 | CV1526653 | single nucleotide variant | NM_001370259.2(MEN1):c.1185+19A>G | Multiple endocrine neoplasia, type 1 [RCV002084325]|not specified [RCV003493918] | likely benign | 11 | 64805616 | 64805616 | Human | 1 | name |
| 152053670 | CV1533893 | single nucleotide variant | NM_001370259.2(MEN1):c.1185+15C>G | Multiple endocrine neoplasia, type 1 [RCV002151076] | likely benign | 11 | 64805620 | 64805620 | Human | 1 | name |
| 152052849 | CV1536305 | single nucleotide variant | NM_001370259.2(MEN1):c.1351-16C>G | Multiple endocrine neoplasia, type 1 [RCV002144400] | likely benign | 11 | 64804832 | 64804832 | Human | 1 | name |
| 152056522 | CV1542993 | single nucleotide variant | NM_001370259.2(MEN1):c.1185+18C>A | Multiple endocrine neoplasia, type 1 [RCV002178367] | likely benign | 11 | 64805617 | 64805617 | Human | 1 | name |
| 152050502 | CV1543525 | single nucleotide variant | NM_001370259.2(MEN1):c.1185+18C>T | Hereditary cancer-predisposing syndrome [RCV002337347]|Multiple endocrine neoplasia, type 1 [RCV002123811] | benign|uncertain significance | 11 | 64805617 | 64805617 | Human | 2 | name |
| 152050511 | CV1543621 | single nucleotide variant | NM_001370259.2(MEN1):c.1186-15T>A | Multiple endocrine neoplasia, type 1 [RCV002123886] | likely benign | 11 | 64805213 | 64805213 | Human | 1 | name |
| 152057904 | CV1554478 | single nucleotide variant | NM_001370259.2(MEN1):c.1186-13C>T | Multiple endocrine neoplasia, type 1 [RCV002190855] | likely benign | 11 | 64805211 | 64805211 | Human | 1 | name |
| 152058676 | CV1575872 | single nucleotide variant | NM_001370259.2(MEN1):c.1351-13C>T | Multiple endocrine neoplasia, type 1 [RCV002197740] | likely benign | 11 | 64804829 | 64804829 | Human | 1 | name |
| 152060993 | CV1591834 | single nucleotide variant | NM_001370259.2(MEN1):c.1050-20A>G | Multiple endocrine neoplasia, type 1 [RCV002214938] | likely benign | 11 | 64805790 | 64805790 | Human | 1 | name |
| 152056015 | CV1611780 | single nucleotide variant | NM_001370259.2(MEN1):c.1185+12G>C | Multiple endocrine neoplasia, type 1 [RCV002172824] | likely benign | 11 | 64805623 | 64805623 | Human | 1 | name |
| 152059650 | CV1617982 | single nucleotide variant | NM_001370259.2(MEN1):c.1351-11C>T | Multiple endocrine neoplasia, type 1 [RCV002204302] | likely benign | 11 | 64804827 | 64804827 | Human | 1 | name |
| 152055359 | CV1619334 | single nucleotide variant | NM_001370259.2(MEN1):c.1351-15T>G | Multiple endocrine neoplasia, type 1 [RCV002167129] | likely benign | 11 | 64804831 | 64804831 | Human | 1 | name |
| 152048639 | CV1621667 | single nucleotide variant | NM_001370259.2(MEN1):c.1351-16C>T | Multiple endocrine neoplasia, type 1 [RCV002107896] | likely benign | 11 | 64804832 | 64804832 | Human | 1 | name |
| 152059852 | CV1625101 | single nucleotide variant | NM_001370259.2(MEN1):c.1049+11C>A | Multiple endocrine neoplasia, type 1 [RCV002205950] | likely benign | 11 | 64806221 | 64806221 | Human | 1 | name |
| 152055715 | CV1632870 | single nucleotide variant | NM_001370259.2(MEN1):c.1350+18A>G | Multiple endocrine neoplasia, type 1 [RCV002170099] | likely benign | 11 | 64805016 | 64805016 | Human | 1 | name |
| 152056514 | CV1640696 | single nucleotide variant | NM_001370259.2(MEN1):c.1050-19G>C | Multiple endocrine neoplasia, type 1 [RCV002178274] | likely benign | 11 | 64805789 | 64805789 | Human | 1 | name |
| 152049126 | CV1643382 | single nucleotide variant | NM_001370259.2(MEN1):c.1350+19G>A | Multiple endocrine neoplasia, type 1 [RCV002111497] | likely benign | 11 | 64805015 | 64805015 | Human | 1 | name |
| 152054659 | CV1646532 | single nucleotide variant | NM_001370259.2(MEN1):c.1351-12C>T | Multiple endocrine neoplasia, type 1 [RCV002160052] | likely benign | 11 | 64804828 | 64804828 | Human | 1 | name |
| 152049979 | CV1650590 | single nucleotide variant | NM_001370259.2(MEN1):c.1186-17C>T | Multiple endocrine neoplasia, type 1 [RCV002118890] | likely benign | 11 | 64805215 | 64805215 | Human | 1 | name |
| 152061657 | CV1658208 | duplication | NM_001370259.2(MEN1):c.1185+10dup | Multiple endocrine neoplasia, type 1 [RCV002219872] | likely benign | 11 | 64805624 | 64805625 | Human | 1 | name |
| 155732669 | CV1834070 | single nucleotide variant | NM_001370259.2(MEN1):c.1050-15C>G | Hereditary cancer-predisposing syndrome [RCV002401254]|Multiple endocrine neoplasia, type 1 [RCV003517418] | likely benign|uncertain significance | 11 | 64805785 | 64805785 | Human | 2 | name |
| 156372589 | CV1878484 | single nucleotide variant | NM_001370259.2(MEN1):c.1049+17T>G | Multiple endocrine neoplasia, type 1 [RCV003066425] | likely benign | 11 | 64806215 | 64806215 | Human | 1 | name |
| 156405431 | CV1893831 | single nucleotide variant | NM_001370259.2(MEN1):c.1049+12C>A | Multiple endocrine neoplasia, type 1 [RCV003070020] | likely benign | 11 | 64806220 | 64806220 | Human | 1 | name |
| 156413740 | CV1905421 | single nucleotide variant | NM_001370259.2(MEN1):c.1186-16C>T | Multiple endocrine neoplasia, type 1 [RCV003073422] | likely benign | 11 | 64805214 | 64805214 | Human | 1 | name |
| 156307127 | CV2013806 | single nucleotide variant | NM_001370259.2(MEN1):c.1351-11C>G | Multiple endocrine neoplasia, type 1 [RCV002716334] | likely benign | 11 | 64804827 | 64804827 | Human | 1 | name |
| 156272864 | CV2046205 | single nucleotide variant | NM_001370259.2(MEN1):c.1049+15A>G | Multiple endocrine neoplasia, type 1 [RCV002770105] | likely benign | 11 | 64806217 | 64806217 | Human | 1 | name |
| 156156084 | CV2049307 | single nucleotide variant | NM_001370259.2(MEN1):c.1050-19G>A | Multiple endocrine neoplasia, type 1 [RCV002801458] | likely benign | 11 | 64805789 | 64805789 | Human | 1 | name |
| 155998358 | CV2057281 | deletion | NM_001370259.2(MEN1):c.1351-10del | Multiple endocrine neoplasia, type 1 [RCV002819530] | likely benign | 11 | 64804826 | 64804826 | Human | 1 | name |
| 156250263 | CV2060351 | single nucleotide variant | NM_001370259.2(MEN1):c.1049+11C>T | Multiple endocrine neoplasia, type 1 [RCV002791668] | likely benign | 11 | 64806221 | 64806221 | Human | 1 | name |
| 156046626 | CV2091240 | single nucleotide variant | NM_001370259.2(MEN1):c.1186-14T>C | Multiple endocrine neoplasia, type 1 [RCV002886013] | likely benign | 11 | 64805212 | 64805212 | Human | 1 | name |
| 155962579 | CV2183633 | single nucleotide variant | NM_001370259.2(MEN1):c.1185+13A>G | Multiple endocrine neoplasia, type 1 [RCV003033015] | likely benign | 11 | 64805622 | 64805622 | Human | 1 | name |
| 156355394 | CV2188744 | single nucleotide variant | NM_001370259.2(MEN1):c.1049+13C>A | Multiple endocrine neoplasia, type 1 [RCV003048647] | likely benign | 11 | 64806219 | 64806219 | Human | 1 | name |
| 11050164 | CV225551 | single nucleotide variant | NM_001370259.2(MEN1):c.1185+12G>A | Hereditary cancer-predisposing syndrome [RCV000209727]|Multiple endocrine neoplasia, type 1 [RCV001762454]|not provided [RCV001529469]|not specified [RCV000608324] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 64805623 | 64805623 | Human | 2 | name |
| 405041381 | CV2860147 | single nucleotide variant | NM_001370259.2(MEN1):c.1049+18A>G | Multiple endocrine neoplasia, type 1 [RCV003518051] | likely benign | 11 | 64806214 | 64806214 | Human | 1 | name |
| 405034106 | CV2924532 | single nucleotide variant | NM_001370259.2(MEN1):c.1350+16A>C | Multiple endocrine neoplasia, type 1 [RCV003517076] | likely benign | 11 | 64805018 | 64805018 | Human | 1 | name |
| 405052713 | CV2948756 | single nucleotide variant | NM_001370259.2(MEN1):c.1050-18A>C | Multiple endocrine neoplasia, type 1 [RCV003631440] | likely benign | 11 | 64805788 | 64805788 | Human | 1 | name |
| 405053349 | CV2959334 | single nucleotide variant | NM_001370259.2(MEN1):c.1050-19G>T | Multiple endocrine neoplasia, type 1 [RCV003631538] | likely benign | 11 | 64805789 | 64805789 | Human | 1 | name |
| 405054962 | CV2976760 | single nucleotide variant | NM_001370259.2(MEN1):c.1351-18C>G | Multiple endocrine neoplasia, type 1 [RCV003631707] | likely benign | 11 | 64804834 | 64804834 | Human | 1 | name |
| 405057955 | CV3003418 | single nucleotide variant | NM_001370259.2(MEN1):c.1049+10C>A | Multiple endocrine neoplasia, type 1 [RCV003631969] | likely benign | 11 | 64806222 | 64806222 | Human | 1 | name |
| 402472901 | CV3172066 | single nucleotide variant | NM_001370259.2(MEN1):c.1050-10G>C | Multiple endocrine neoplasia, type 1 [RCV003874669] | likely benign | 11 | 64805780 | 64805780 | Human | 1 | name |
| 402504462 | CV3181468 | single nucleotide variant | NM_001370259.2(MEN1):c.1050-10G>A | Multiple endocrine neoplasia, type 1 [RCV003878302] | likely benign | 11 | 64805780 | 64805780 | Human | 1 | name |
| 405719743 | CV3231262 | duplication | NM_001370259.2(MEN1):c.-20_-14dup | Multiple endocrine neoplasia, type 1 [RCV004012668] | uncertain significance | 11 | 64810122 | 64810123 | Human | 1 | name |
| 11614200 | CV328439 | microsatellite | NM_001370259.2(MEN1):c.*300CTC[2] | Hyperparathyroidism [RCV000332405]|Multiple endocrine neoplasia [RCV000274956] | likely benign | 11 | 64804026 | 64804028 | Human | | name |
| 11613037 | CV328454 | single nucleotide variant | NM_001370259.2(MEN1):c.1186-10C>T | Hyperparathyroidism [RCV000264959]|Multiple endocrine neoplasia, type 1 [RCV000375854] | conflicting interpretations of pathogenicity|uncertain significance | 11 | 64805208 | 64805208 | Human | 3 | name |
| 597932781 | CV3742679 | single nucleotide variant | NM_001370259.2(MEN1):c.1049+16C>T | Multiple endocrine neoplasia, type 1 [RCV005076118] | likely benign | 11 | 64806216 | 64806216 | Human | 1 | name |
| 597943922 | CV3765933 | single nucleotide variant | NM_001370259.2(MEN1):c.1049+20G>T | Multiple endocrine neoplasia, type 1 [RCV005119311] | likely benign | 11 | 64806212 | 64806212 | Human | 1 | name |
| 597909941 | CV3782057 | single nucleotide variant | NM_001370259.2(MEN1):c.1351-10A>T | Multiple endocrine neoplasia, type 1 [RCV005128549] | likely benign | 11 | 64804826 | 64804826 | Human | 1 | name |
| 597975923 | CV3796013 | single nucleotide variant | NM_001370259.2(MEN1):c.1350+17C>T | Multiple endocrine neoplasia, type 1 [RCV005144844] | likely benign | 11 | 64805017 | 64805017 | Human | 1 | name |
| 597946357 | CV3807492 | single nucleotide variant | NM_001370259.2(MEN1):c.1186-20C>T | Multiple endocrine neoplasia, type 1 [RCV005160127] | likely benign | 11 | 64805218 | 64805218 | Human | 1 | name |
| 597932808 | CV3862114 | single nucleotide variant | NM_001370259.2(MEN1):c.1185+11G>A | Multiple endocrine neoplasia, type 1 [RCV005206978] | likely benign | 11 | 64805624 | 64805624 | Human | 1 | name |
| 598121377 | CV3889400 | single nucleotide variant | NM_001370259.2(MEN1):c.1050-17C>T | Multiple endocrine neoplasia, type 1 [RCV005246509] | likely benign | 11 | 64805787 | 64805787 | Human | 1 | name |
| 598121505 | CV3889528 | single nucleotide variant | NM_001370259.2(MEN1):c.1186-18C>T | Multiple endocrine neoplasia, type 1 [RCV005247630] | likely benign | 11 | 64805216 | 64805216 | Human | 1 | name |
| 13480031 | CV461456 | single nucleotide variant | NM_001370259.2(MEN1):c.1351-10A>G | Multiple endocrine neoplasia, type 1 [RCV000528351] | likely benign | 11 | 64804826 | 64804826 | Human | 1 | name |
| 150421103 | CV1198230 | single nucleotide variant | NM_001370259.2(MEN1):c.1050-163T>C | not provided [RCV001577896] | likely benign | 11 | 64805933 | 64805933 | Human | | name |
| 150483600 | CV1222329 | single nucleotide variant | NM_001370259.2(MEN1):c.1049+115A>G | not provided [RCV001617331] | benign | 11 | 64806117 | 64806117 | Human | | name |
| 150474007 | CV1234376 | single nucleotide variant | NM_001370259.2(MEN1):c.1350+103G>C | not provided [RCV001651696] | benign | 11 | 64804931 | 64804931 | Human | | name |
| 10055559 | CV197539 | microsatellite | NM_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 significance | 11 | 64807233 | 64807234 | Human | | name |
| 401909630 | CV2813318 | single nucleotide variant | NM_001370259.2(MEN1):c.1050-138C>T | not provided [RCV003397978] | likely benign | 11 | 64805908 | 64805908 | Human | | name |
| 401909466 | CV2813319 | single nucleotide variant | NM_001370259.2(MEN1):c.1050-180C>T | not provided [RCV003397979] | likely benign | 11 | 64805950 | 64805950 | Human | | name |
| 401909467 | CV2813320 | single nucleotide variant | NM_001370259.2(MEN1):c.1050-216C>T | not provided [RCV003397980] | likely benign | 11 | 64805986 | 64805986 | Human | | name |
| 401933214 | CV2813321 | single nucleotide variant | NM_001370259.2(MEN1):c.1049+229A>G | not provided [RCV003409288] | likely benign | 11 | 64806003 | 64806003 | Human | | name |
| 407482302 | CV3415273 | single nucleotide variant | NM_001370259.2(MEN1):c.1050-137C>A | not specified [RCV004595988] | likely benign | 11 | 64805907 | 64805907 | Human | | name |
| 151722654 | CV1465561 | deletion | NM_001370259.2(MEN1):c.825-1_825del | Multiple endocrine neoplasia, type 1 [RCV002043184] | likely pathogenic | 11 | 64807098 | 64807099 | Human | 1 | name |
| 8569658 | CV45196 | deletion | NM_001370259.2(MEN1):c.649_654+2del | Multiple endocrine neoplasia, type 1 [RCV000030207] | likely pathogenic | 11 | 64807889 | 64807896 | Human | 1 | name |
| 598205348 | CV3896820 | deletion | NM_001370259.2(MEN1):c.-23-11_-22del | Multiple endocrine neoplasia, type 1 [RCV005356996] | likely pathogenic | 11 | 64810131 | 64810143 | Human | 1 | name |
| 14743286 | CV652589 | deletion | NM_001370259.2(MEN1):c.655-15_658del | Multiple endocrine neoplasia, type 1 [RCV000823354] | likely pathogenic | 11 | 64807677 | 64807695 | Human | 1 | name |
| 127248597 | CV1056034 | deletion | NM_001370259.2(MEN1):c.1351-3_1359del | Multiple endocrine neoplasia, type 1 [RCV001377991]|not provided [RCV001810728] | pathogenic|likely pathogenic | 11 | 64804808 | 64804819 | Human | 1 | name |
| 127256071 | CV1100222 | duplication | NM_001370259.2(MEN1):c.655-7_655-4dup | Multiple endocrine neoplasia, type 1 [RCV001426737] | likely benign | 11 | 64807683 | 64807684 | Human | 1 | name |
| 329846677 | CV2534138 | single nucleotide variant | NM_001370259.2(MEN1):c.9G>A (p.Leu3=) | not provided [RCV003228345] | uncertain significance | 11 | 64810101 | 64810101 | Human | | name |
| 405049676 | CV2898658 | deletion | NM_001370259.2(MEN1):c.1351-4_1352del | Multiple endocrine neoplasia, type 1 [RCV003518776] | uncertain significance | 11 | 64804815 | 64804820 | Human | 1 | name |
| 13614533 | CV526394 | deletion | NM_001370259.2(MEN1):c.655-6_655-4del | Hereditary cancer-predisposing syndrome [RCV004944028]|Multiple endocrine neoplasia, type 1 [RCV000632098] | uncertain significance | 11 | 64807684 | 64807686 | Human | 2 | name |
| 13813277 | CV564808 | deletion | NM_001370259.2(MEN1):c.1351-2_*132del | Multiple endocrine neoplasia, type 1 [RCV000704250] | pathogenic | 11 | 64804202 | 64804818 | Human | 1 | name |
| 25325720 | CV810850 | single nucleotide variant | NM_001370259.2(MEN1):c.6G>T (p.Gly2=) | Hereditary cancer-predisposing syndrome [RCV001025907] | likely benign | 11 | 64810104 | 64810104 | Human | 1 | name |
| 127239550 | CV1062438 | duplication | NM_001370259.2(MEN1):c.6dup (p.Leu3fs) | Multiple endocrine neoplasia, type 1 [RCV001383274] | pathogenic | 11 | 64810103 | 64810104 | Human | 1 | name |
| 127251792 | CV1078501 | single nucleotide variant | NM_001370259.2(MEN1):c.27G>A (p.Thr9=) | Hereditary cancer-predisposing syndrome [RCV002438973]|Multiple endocrine neoplasia, type 1 [RCV001417881] | benign|likely benign | 11 | 64810083 | 64810083 | Human | 2 | name |
| 152054640 | CV1543904 | single nucleotide variant | NM_001370259.2(MEN1):c.24G>A (p.Lys8=) | Hereditary cancer-predisposing syndrome [RCV004945918]|Multiple endocrine neoplasia, type 1 [RCV002159841] | benign|likely benign | 11 | 64810086 | 64810086 | Human | 2 | name |
| 155686572 | CV1852638 | single nucleotide variant | NM_001370259.2(MEN1):c.27G>T (p.Thr9=) | Hereditary cancer-predisposing syndrome [RCV002441577]|Multiple endocrine neoplasia, type 1 [RCV005248799] | benign|likely benign | 11 | 64810083 | 64810083 | Human | 2 | name |
| 10056879 | CV197565 | single nucleotide variant | NM_130799.2(MEN1):c.76G>T (p.Glu26Ter) | not provided [RCV000182445] | pathogenic | 11 | 64810034 | 64810034 | Human | | name |
| 10407302 | CV212951 | single nucleotide variant | NM_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 benign | 11 | 64810092 | 64810092 | Human | 3 | name , alternate_id |
| 329368525 | CV2426179 | single nucleotide variant | NM_001370259.2(MEN1):c.18C>G (p.Ala6=) | Hereditary cancer-predisposing syndrome [RCV003171362]|Multiple endocrine neoplasia, type 1 [RCV005248971] | benign|likely benign | 11 | 64810092 | 64810092 | Human | 2 | name |
| 405065809 | CV3058848 | single nucleotide variant | NM_001370259.2(MEN1):c.15C>T (p.Ala5=) | Hereditary cancer-predisposing syndrome [RCV005377545]|Multiple endocrine neoplasia, type 1 [RCV003632693] | benign|likely benign | 11 | 64810095 | 64810095 | Human | 2 | name |
| 405723254 | CV3230295 | duplication | NM_001370259.2(MEN1):c.913-11_913-6dup | Multiple endocrine neoplasia, type 1 [RCV004013047] | likely benign | 11 | 64806373 | 64806374 | Human | 1 | name |
| 12889727 | CV398442 | single nucleotide variant | NM_001370259.2(MEN1):c.15C>A (p.Ala5=) | Hereditary cancer-predisposing syndrome [RCV001012305]|Multiple endocrine neoplasia, type 1 [RCV000473276] | benign|likely benign | 11 | 64810095 | 64810095 | Human | 2 | name |
| 13491498 | CV461284 | deletion | NM_001370259.2(MEN1):c.940_1050-227del | Multiple endocrine neoplasia, type 1 [RCV000556751] | pathogenic | 11 | 64805997 | 64806341 | Human | 1 | name |
| 13500922 | CV476490 | single nucleotide variant | NM_001370259.2(MEN1):c.12G>A (p.Lys4=) | Hereditary cancer-predisposing syndrome [RCV000574276] | likely benign | 11 | 64810098 | 64810098 | Human | 1 | name |
| 14742644 | CV652585 | deletion | NM_001370259.2(MEN1):c.623_1050-143del | Multiple endocrine neoplasia, type 1 [RCV000822934] | pathogenic | 11 | 64805913 | 64807922 | Human | 1 | name |
| 15135145 | CV687809 | single nucleotide variant | NM_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 pathogenicity | 11 | 64810089 | 64810089 | Human | 2 | name |
| 26894209 | CV851887 | deletion | NM_001370259.2(MEN1):c.1277_1350+28del | Multiple endocrine neoplasia, type 1 [RCV001047541] | pathogenic|likely pathogenic | 11 | 64805006 | 64805107 | Human | 1 | name |
| 127244672 | CV1078500 | single nucleotide variant | NM_001370259.2(MEN1):c.42C>G (p.Arg14=) | Multiple endocrine neoplasia, type 1 [RCV001416376] | likely benign | 11 | 64810068 | 64810068 | Human | 1 | name |
| 127280895 | CV1100232 | single nucleotide variant | NM_001370259.2(MEN1):c.75C>T (p.Ala25=) | Hereditary cancer-predisposing syndrome [RCV002396032]|Multiple endocrine neoplasia, type 1 [RCV001446786] | likely benign | 11 | 64810035 | 64810035 | Human | 2 | name |
| 127330431 | CV1121720 | single nucleotide variant | NM_001370259.2(MEN1):c.96G>A (p.Pro32=) | Hereditary cancer-predisposing syndrome [RCV005369888]|Multiple endocrine neoplasia, type 1 [RCV001470858] | benign|likely benign | 11 | 64810014 | 64810014 | Human | 2 | name |
| 127334235 | CV1121721 | single nucleotide variant | NM_001370259.2(MEN1):c.51C>T (p.Asp17=) | Multiple endocrine neoplasia, type 1 [RCV001473459] | benign|likely benign | 11 | 64810059 | 64810059 | Human | 1 | name |
| 127310845 | CV1142566 | single nucleotide variant | NM_001370259.2(MEN1):c.36G>A (p.Pro12=) | Hereditary cancer-predisposing syndrome [RCV002350983]|Multiple endocrine neoplasia, type 1 [RCV001481253] | benign|likely benign | 11 | 64810074 | 64810074 | Human | 2 | name |
| 8689954 | CV139881 | single nucleotide variant | NM_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 significance | 11 | 64810080 | 64810080 | Human | 4 | name |
| 152055512 | CV1535789 | single nucleotide variant | NM_001370259.2(MEN1):c.85C>A (p.Arg29=) | Hereditary cancer-predisposing syndrome [RCV005370163]|Multiple endocrine neoplasia, type 1 [RCV002168427] | likely benign | 11 | 64810025 | 64810025 | Human | 2 | name |
| 152058465 | CV1605092 | single nucleotide variant | NM_001370259.2(MEN1):c.84C>T (p.Gly28=) | Multiple endocrine neoplasia, type 1 [RCV002196156] | benign|likely benign | 11 | 64810026 | 64810026 | Human | 1 | name |
| 152061210 | CV1619946 | single nucleotide variant | NM_001370259.2(MEN1):c.28C>T (p.Leu10=) | Multiple endocrine neoplasia, type 1 [RCV002216387] | likely benign | 11 | 64810082 | 64810082 | Human | 1 | name |
| 152049123 | CV1643376 | deletion | NM_001370259.2(MEN1):c.655-19_655-17del | Multiple endocrine neoplasia, type 1 [RCV002111496] | likely benign | 11 | 64807697 | 64807699 | Human | 1 | name |
| 155669382 | CV1822067 | single nucleotide variant | NM_001370259.2(MEN1):c.66G>A (p.Leu22=) | Hereditary cancer-predisposing syndrome [RCV002367139]|Multiple endocrine neoplasia, type 1 [RCV005248649] | benign|likely benign | 11 | 64810044 | 64810044 | Human | 2 | name |
| 155667117 | CV1855946 | single nucleotide variant | NM_001370259.2(MEN1):c.2T>C (p.Met1Thr) | Hereditary cancer-predisposing syndrome [RCV002435647] | pathogenic | 11 | 64810108 | 64810108 | Human | 1 | name |
| 155667154 | CV1855951 | single nucleotide variant | NM_001370259.2(MEN1):c.2T>G (p.Met1Arg) | Hereditary cancer-predisposing syndrome [RCV002435652] | pathogenic | 11 | 64810108 | 64810108 | Human | 1 | name |
| 10042192 | CV186159 | single nucleotide variant | NM_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 pathogenicity | 11 | 64810107 | 64810107 | Human | 2 | name |
| 156205652 | CV1878159 | single nucleotide variant | NM_001370259.2(MEN1):c.2T>A (p.Met1Lys) | Multiple endocrine neoplasia, type 1 [RCV003058328] | pathogenic | 11 | 64810108 | 64810108 | Human | 1 | name |
| 156277699 | CV2011334 | single nucleotide variant | NM_001370259.2(MEN1):c.60G>A (p.Val20=) | Multiple endocrine neoplasia, type 1 [RCV002715192] | likely benign | 11 | 64810050 | 64810050 | Human | 1 | name |
| 155938030 | CV2071627 | single nucleotide variant | NM_001370259.2(MEN1):c.99C>T (p.Asp33=) | Multiple endocrine neoplasia, type 1 [RCV002839220] | likely benign | 11 | 64810011 | 64810011 | Human | 1 | name |
| 156035173 | CV2089355 | single nucleotide variant | NM_001370259.2(MEN1):c.81G>T (p.Leu27=) | Multiple endocrine neoplasia, type 1 [RCV002867218] | likely benign | 11 | 64810029 | 64810029 | Human | 1 | name |
| 11545055 | CV254244 | single nucleotide variant | NM_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 significance | 11 | 64810050 | 64810050 | Human | 2 | name |
| 405041986 | CV2877479 | deletion | NM_001370259.2(MEN1):c.825-13_825-11del | Multiple endocrine neoplasia, type 1 [RCV003518080] | likely benign | 11 | 64807109 | 64807111 | Human | 1 | name |
| 405046116 | CV2881531 | single nucleotide variant | NM_001370259.2(MEN1):c.42C>T (p.Arg14=) | Multiple endocrine neoplasia, type 1 [RCV003518446] | likely benign | 11 | 64810068 | 64810068 | Human | 1 | name |
| 405052494 | CV2938377 | single nucleotide variant | NM_001370259.2(MEN1):c.45C>T (p.Ser15=) | Multiple endocrine neoplasia, type 1 [RCV003631420] | benign|likely benign | 11 | 64810065 | 64810065 | Human | 1 | name |
| 405055057 | CV2980477 | microsatellite | NM_001370259.2(MEN1):c.784-17_784-14del | Multiple endocrine neoplasia, type 1 [RCV003631715] | uncertain significance | 11 | 64807233 | 64807236 | Human | | name |
| 405057381 | CV2995809 | single nucleotide variant | NM_001370259.2(MEN1):c.30G>C (p.Leu10=) | Multiple endocrine neoplasia, type 1 [RCV003631918] | likely benign | 11 | 64810080 | 64810080 | Human | 1 | name |
| 405057608 | CV2995901 | single nucleotide variant | NM_001370259.2(MEN1):c.4G>A (p.Gly2Arg) | Multiple endocrine neoplasia, type 1 [RCV003631936] | uncertain significance | 11 | 64810106 | 64810106 | Human | 1 | name |
| 405058775 | CV3004763 | single nucleotide variant | NM_001370259.2(MEN1):c.33C>T (p.Phe11=) | Multiple endocrine neoplasia, type 1 [RCV003632024] | likely benign | 11 | 64810077 | 64810077 | Human | 1 | name |
| 405068220 | CV3080277 | single nucleotide variant | NM_001370259.2(MEN1):c.75C>G (p.Ala25=) | Multiple endocrine neoplasia, type 1 [RCV003632923] | likely benign | 11 | 64810035 | 64810035 | Human | 1 | name |
| 405247556 | CV3159035 | single nucleotide variant | NM_001370259.2(MEN1):c.75C>A (p.Ala25=) | Hereditary cancer-predisposing syndrome [RCV005377600]|Multiple endocrine neoplasia, type 1 [RCV003869180] | benign|likely benign|uncertain significance | 11 | 64810035 | 64810035 | Human | 2 | name |
| 405706642 | CV3225197 | deletion | NM_001370259.2(MEN1):c.-23-28_783+50del | Multiple endocrine neoplasia, type 1 [RCV003990251] | uncertain significance | 11 | 64807502 | 64810160 | Human | 1 | name |
| 596941301 | CV3546161 | single nucleotide variant | NM_001370259.2(MEN1):c.66G>C (p.Leu22=) | Multiple endocrine neoplasia, type 1 [RCV004806790] | likely benign | 11 | 64810044 | 64810044 | Human | 1 | name |
| 597906269 | CV3856857 | deletion | NM_001370259.2(MEN1):c.1049+2_1049+3del | Multiple endocrine neoplasia, type 1 [RCV005202906] | pathogenic | 11 | 64806229 | 64806230 | Human | 1 | name |
| 598121400 | CV3889423 | single nucleotide variant | NM_001370259.2(MEN1):c.30G>A (p.Leu10=) | Multiple endocrine neoplasia, type 1 [RCV005246532] | benign | 11 | 64810080 | 64810080 | Human | 1 | name |
| 598121572 | CV3889595 | single nucleotide variant | NM_001370259.2(MEN1):c.48C>A (p.Ile16=) | Multiple endocrine neoplasia, type 1 [RCV005247697] | benign | 11 | 64810062 | 64810062 | Human | 1 | name |
| 598226547 | CV3895817 | microsatellite | NM_001370259.2(MEN1):c.655-15_655-14del | Multiple endocrine neoplasia, type 1 [RCV005362109] | likely pathogenic | 11 | 64807694 | 64807695 | Human | | name |
| 12890934 | CV398427 | single nucleotide variant | NM_001370259.2(MEN1):c.48C>T (p.Ile16=) | Hereditary cancer-predisposing syndrome [RCV003278821]|Multiple endocrine neoplasia, type 1 [RCV001504106] | benign|likely benign | 11 | 64810062 | 64810062 | Human | 2 | name |
| 12911454 | CV419865 | single nucleotide variant | NM_001370259.2(MEN1):c.1A>T (p.Met1Leu) | Hereditary cancer-predisposing syndrome [RCV000491567]|Multiple endocrine neoplasia, type 1 [RCV000536890]|not provided [RCV004999528] | pathogenic|likely pathogenic | 11 | 64810109 | 64810109 | Human | 2 | name |
| 13435901 | CV433093 | deletion | NM_001370259.2(MEN1):c.913-65_913-14del | not specified [RCV000506209] | uncertain significance | 11 | 64806382 | 64806433 | Human | | name |
| 8569649 | CV45187 | single nucleotide variant | NM_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 pathogenic | 11 | 64810109 | 64810109 | Human | 2 | name |
| 13489188 | CV462206 | single nucleotide variant | NM_001370259.2(MEN1):c.54C>T (p.Asp18=) | Multiple endocrine neoplasia, type 1 [RCV000532778] | likely benign | 11 | 64810056 | 64810056 | Human | 1 | name |
| 13614605 | CV526385 | single nucleotide variant | NM_001370259.2(MEN1):c.87A>C (p.Arg29=) | Hereditary cancer-predisposing syndrome [RCV003162807]|Multiple endocrine neoplasia, type 1 [RCV000632158] | benign|likely benign | 11 | 64810023 | 64810023 | Human | 2 | name |
| 13812826 | CV565975 | deletion | NM_001370259.2(MEN1):c.1350+4_1350+6del | Multiple endocrine neoplasia, type 1 [RCV000689757] | uncertain significance | 11 | 64805028 | 64805030 | Human | 1 | name |
| 14728580 | CV640320 | single nucleotide variant | NM_001370259.2(MEN1):c.5G>A (p.Gly2Glu) | Multiple endocrine neoplasia, type 1 [RCV000800118] | uncertain significance | 11 | 64810105 | 64810105 | Human | 1 | name |
| 15127610 | CV693082 | single nucleotide variant | NM_001370259.2(MEN1):c.81G>C (p.Leu27=) | Hereditary cancer-predisposing syndrome [RCV002427205]|Multiple endocrine neoplasia, type 1 [RCV002064804] | benign|likely benign | 11 | 64810029 | 64810029 | Human | 2 | name |
| 15125069 | CV693083 | single nucleotide variant | NM_001370259.2(MEN1):c.79C>T (p.Leu27=) | Hereditary cancer-predisposing syndrome [RCV002416068]|Multiple endocrine neoplasia, type 1 [RCV001429118] | likely benign | 11 | 64810031 | 64810031 | Human | 2 | name |
| 15145644 | CV768589 | single nucleotide variant | NM_001370259.2(MEN1):c.64C>T (p.Leu22=) | Multiple endocrine neoplasia, type 1 [RCV001477371] | likely benign | 11 | 64810046 | 64810046 | Human | 1 | name |
| 15114595 | CV784078 | single nucleotide variant | NM_001370259.2(MEN1):c.36G>T (p.Pro12=) | Hereditary cancer-predisposing syndrome [RCV003307773]|Multiple endocrine neoplasia, type 1 [RCV000978248] | likely benign | 11 | 64810074 | 64810074 | Human | 2 | name |
| 25324932 | CV810845 | single nucleotide variant | NM_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 significance | 11 | 64810047 | 64810047 | Human | 2 | name |
| 26914700 | CV838754 | single nucleotide variant | NM_001370259.2(MEN1):c.1A>C (p.Met1Leu) | Hereditary cancer-predisposing syndrome [RCV003380824]|Multiple endocrine neoplasia, type 1 [RCV001055158] | pathogenic | 11 | 64810109 | 64810109 | Human | 2 | name |
| 38471357 | CV956586 | single nucleotide variant | NM_001370259.2(MEN1):c.57G>A (p.Val19=) | Hereditary cancer-predisposing syndrome [RCV002357056]|Multiple endocrine neoplasia, type 1 [RCV001248632] | benign|likely benign|uncertain significance | 11 | 64810053 | 64810053 | Human | 2 | name |
| 127272010 | CV1078496 | single nucleotide variant | NM_001370259.2(MEN1):c.294A>T (p.Arg98=) | Multiple endocrine neoplasia, type 1 [RCV001405558] | likely benign | 11 | 64809816 | 64809816 | Human | 1 | name |
| 127230933 | CV1078497 | single nucleotide variant | NM_001370259.2(MEN1):c.249G>T (p.Leu83=) | Multiple endocrine neoplasia, type 1 [RCV001395035] | benign|likely benign | 11 | 64809861 | 64809861 | Human | 1 | name |
| 127280040 | CV1078498 | single nucleotide variant | NM_001370259.2(MEN1):c.216T>G (p.Pro72=) | Hereditary cancer-predisposing syndrome [RCV002420914]|Multiple endocrine neoplasia, type 1 [RCV001409524] | likely benign | 11 | 64809894 | 64809894 | Human | 2 | name |
| 127279022 | CV1078499 | single nucleotide variant | NM_001370259.2(MEN1):c.198C>T (p.Ser66=) | Hereditary cancer-predisposing syndrome [RCV002420911]|Multiple endocrine neoplasia, type 1 [RCV001408853] | benign|likely benign | 11 | 64809912 | 64809912 | Human | 2 | name |
| 127248533 | CV1100229 | single nucleotide variant | NM_001370259.2(MEN1):c.219C>T (p.Gly73=) | Hereditary cancer-predisposing syndrome [RCV002432212]|Multiple endocrine neoplasia, type 1 [RCV001435855]|not provided [RCV003405663] | benign|likely benign | 11 | 64809891 | 64809891 | Human | 2 | name |
| 127254682 | CV1100230 | single nucleotide variant | NM_001370259.2(MEN1):c.159C>A (p.Val53=) | Multiple endocrine neoplasia, type 1 [RCV001426354] | likely benign | 11 | 64809951 | 64809951 | Human | 1 | name |
| 127264453 | CV1100231 | single nucleotide variant | NM_001370259.2(MEN1):c.156C>T (p.Arg52=) | Hereditary cancer-predisposing syndrome [RCV004641645]|Multiple endocrine neoplasia, type 1 [RCV001428860] | benign|likely benign | 11 | 64809954 | 64809954 | Human | 2 | name |
| 127334204 | CV1121718 | single nucleotide variant | NM_001370259.2(MEN1):c.237C>G (p.Pro79=) | Hereditary cancer-predisposing syndrome [RCV004037140]|Multiple endocrine neoplasia, type 1 [RCV001473443] | likely benign | 11 | 64809873 | 64809873 | Human | 2 | name |
| 127330836 | CV1121719 | single nucleotide variant | NM_001370259.2(MEN1):c.126C>T (p.Gly42=) | Multiple endocrine neoplasia, type 1 [RCV001471189] | benign|likely benign | 11 | 64809984 | 64809984 | Human | 1 | name |
| 127317315 | CV1142561 | single nucleotide variant | NM_001370259.2(MEN1):c.234T>C (p.Phe78=) | Multiple endocrine neoplasia, type 1 [RCV001503354] | likely benign | 11 | 64809876 | 64809876 | Human | 1 | name |
| 127311663 | CV1142562 | single nucleotide variant | NM_001370259.2(MEN1):c.207C>A (p.Pro69=) | Multiple endocrine neoplasia, type 1 [RCV001501661] | likely benign | 11 | 64809903 | 64809903 | Human | 1 | name |
| 127307915 | CV1142563 | single nucleotide variant | NM_001370259.2(MEN1):c.159C>G (p.Val53=) | Hereditary cancer-predisposing syndrome [RCV004037206]|Multiple endocrine neoplasia, type 1 [RCV001480451] | likely benign | 11 | 64809951 | 64809951 | Human | 2 | name |
| 127334144 | CV1142564 | single nucleotide variant | NM_001370259.2(MEN1):c.135G>A (p.Glu45=) | Hereditary cancer-predisposing syndrome [RCV002384808]|Multiple endocrine neoplasia, type 1 [RCV001490664] | benign|likely benign | 11 | 64809975 | 64809975 | Human | 2 | name |
| 127333389 | CV1142565 | single nucleotide variant | NM_001370259.2(MEN1):c.102G>C (p.Leu34=) | Hereditary cancer-predisposing syndrome [RCV002255674]|Multiple endocrine neoplasia, type 1 [RCV001490151] | likely benign | 11 | 64810008 | 64810008 | Human | 2 | name |
| 151774695 | CV1365684 | single nucleotide variant | NM_001370259.2(MEN1):c.117G>A (p.Leu39=) | Multiple endocrine neoplasia, type 1 [RCV001872788] | likely benign|uncertain significance | 11 | 64809993 | 64809993 | Human | 1 | name |
| 151720728 | CV1452553 | single nucleotide variant | NM_001370259.2(MEN1):c.14C>G (p.Ala5Gly) | Multiple endocrine neoplasia, type 1 [RCV002037474] | uncertain significance | 11 | 64810096 | 64810096 | Human | 1 | name |
| 152055800 | CV1526308 | single nucleotide variant | NM_001370259.2(MEN1):c.246C>T (p.Asp82=) | Hereditary cancer-predisposing syndrome [RCV002443107]|Multiple endocrine neoplasia, type 1 [RCV002170805] | likely benign | 11 | 64809864 | 64809864 | Human | 2 | name |
| 152055081 | CV1526935 | single nucleotide variant | NM_001370259.2(MEN1):c.150C>T (p.Val50=) | Hereditary cancer-predisposing syndrome [RCV002391337]|Multiple endocrine neoplasia, type 1 [RCV002163718] | likely benign | 11 | 64809960 | 64809960 | Human | 2 | name |
| 152052350 | CV1545385 | single nucleotide variant | NM_001370259.2(MEN1):c.171C>T (p.Asn57=) | Hereditary cancer-predisposing syndrome [RCV002400350]|Multiple endocrine neoplasia, type 1 [RCV002139856] | benign|likely benign | 11 | 64809939 | 64809939 | Human | 2 | name |
| 152045073 | CV1579925 | single nucleotide variant | NM_001370259.2(MEN1):c.204C>A (p.Ala68=) | Hereditary cancer-predisposing syndrome [RCV002416461]|Multiple endocrine neoplasia, type 1 [RCV002076219] | likely benign | 11 | 64809906 | 64809906 | Human | 2 | name |
| 152047880 | CV1593163 | single nucleotide variant | NM_001370259.2(MEN1):c.213G>T (p.Pro71=) | Hereditary cancer-predisposing syndrome [RCV002427676]|Multiple endocrine neoplasia, type 1 [RCV002101973] | likely benign | 11 | 64809897 | 64809897 | Human | 2 | name |
| 152049469 | CV1617602 | single nucleotide variant | NM_001370259.2(MEN1):c.213G>A (p.Pro71=) | Hereditary cancer-predisposing syndrome [RCV003161591]|Multiple endocrine neoplasia, type 1 [RCV002114571] | benign|likely benign | 11 | 64809897 | 64809897 | Human | 2 | name |
| 152052095 | CV1625407 | single nucleotide variant | NM_001370259.2(MEN1):c.180G>A (p.Glu60=) | Hereditary cancer-predisposing syndrome [RCV002409530]|Multiple endocrine neoplasia, type 1 [RCV002137658] | benign|likely benign | 11 | 64809930 | 64809930 | Human | 2 | name |
| 152060138 | CV1636833 | single nucleotide variant | NM_001370259.2(MEN1):c.142C>T (p.Leu48=) | Multiple endocrine neoplasia, type 1 [RCV002208150] | likely benign | 11 | 64809968 | 64809968 | Human | 1 | name |
| 152053975 | CV1653584 | single nucleotide variant | NM_001370259.2(MEN1):c.204C>T (p.Ala68=) | Multiple endocrine neoplasia, type 1 [RCV002153612] | likely benign | 11 | 64809906 | 64809906 | Human | 1 | name |
| 152046508 | CV1653995 | single nucleotide variant | NM_001370259.2(MEN1):c.189C>T (p.Phe63=) | Multiple endocrine neoplasia, type 1 [RCV002088727] | benign|likely benign | 11 | 64809921 | 64809921 | Human | 1 | name |
| 152057165 | CV1655547 | single nucleotide variant | NM_001370259.2(MEN1):c.195C>T (p.Pro65=) | Multiple endocrine neoplasia, type 1 [RCV002184214] | benign|likely benign | 11 | 64809915 | 64809915 | Human | 1 | name |
| 152061666 | CV1658298 | single nucleotide variant | NM_001370259.2(MEN1):c.288G>A (p.Gln96=) | Hereditary cancer-predisposing syndrome [RCV004945934]|Multiple endocrine neoplasia, type 1 [RCV002219937] | benign|likely benign | 11 | 64809822 | 64809822 | Human | 2 | name |
| 155745308 | CV1834305 | single nucleotide variant | NM_001370259.2(MEN1):c.16G>C (p.Ala6Pro) | Hereditary cancer-predisposing syndrome [RCV002414690] | uncertain significance | 11 | 64810094 | 64810094 | Human | 1 | name |
| 155709622 | CV1843931 | single nucleotide variant | NM_001370259.2(MEN1):c.213G>C (p.Pro71=) | Hereditary cancer-predisposing syndrome [RCV002430526] | likely benign | 11 | 64809897 | 64809897 | Human | 1 | name |
| 155692950 | CV1851222 | single nucleotide variant | NM_001370259.2(MEN1):c.240G>A (p.Val80=) | Hereditary cancer-predisposing syndrome [RCV002459718] | likely benign | 11 | 64809870 | 64809870 | Human | 1 | name |
| 155670268 | CV1852967 | single nucleotide variant | NM_001370259.2(MEN1):c.264C>A (p.Ala88=) | Hereditary cancer-predisposing syndrome [RCV002453039] | likely benign | 11 | 64809846 | 64809846 | Human | 1 | name |
| 155670277 | CV1852971 | single nucleotide variant | NM_001370259.2(MEN1):c.264C>T (p.Ala88=) | Hereditary cancer-predisposing syndrome [RCV002453042]|Multiple endocrine neoplasia, type 1 [RCV005098234] | benign|likely benign | 11 | 64809846 | 64809846 | Human | 2 | name |
| 156261535 | CV1913534 | single nucleotide variant | NM_001370259.2(MEN1):c.17C>T (p.Ala6Val) | Multiple endocrine neoplasia, type 1 [RCV002627781] | uncertain significance | 11 | 64810093 | 64810093 | Human | 1 | name |
| 10056875 | CV197528 | deletion | NM_001370259.2(MEN1):c.1350+1_1350+11del | Hereditary cancer-predisposing syndrome [RCV002381592]|Multiple endocrine neoplasia, type 1 [RCV000632087]|not provided [RCV000182441] | pathogenic | 11 | 64805023 | 64805033 | Human | 2 | name |
| 10056885 | CV197543 | single nucleotide variant | NM_130799.2(MEN1):c.671A>C (p.Lys224Thr) | not provided [RCV000182451] | likely pathogenic | 11 | 64807664 | 64807664 | Human | | name |
| 10056853 | CV197544 | single nucleotide variant | NM_130799.2(MEN1):c.666C>G (p.Tyr222Ter) | not provided [RCV000182412] | pathogenic | 11 | 64807669 | 64807669 | Human | | name |
| 10056882 | CV197551 | single nucleotide variant | NM_130799.2(MEN1):c.547T>C (p.Trp183Arg) | not provided [RCV000182448] | pathogenic | 11 | 64807998 | 64807998 | Human | | name |
| 10056848 | CV197553 | single nucleotide variant | NM_130799.2(MEN1):c.521A>C (p.His174Pro) | not provided [RCV000182407] | likely pathogenic | 11 | 64808024 | 64808024 | Human | | name |
| 10056881 | CV197556 | single nucleotide variant | NM_130799.2(MEN1):c.467G>T (p.Gly156Val) | not provided [RCV000182447] | pathogenic | 11 | 64808078 | 64808078 | Human | | name |
| 10056891 | CV197567 | deletion | NM_001370259.2(MEN1):c.55del (p.Val19fs) | not provided [RCV000182457] | pathogenic | 11 | 64810055 | 64810055 | Human | | name |
| 156015326 | CV2034992 | single nucleotide variant | NM_001370259.2(MEN1):c.243C>T (p.Ala81=) | Hereditary cancer-predisposing syndrome [RCV004642029]|Multiple endocrine neoplasia, type 1 [RCV002780370] | benign|likely benign | 11 | 64809867 | 64809867 | Human | 2 | name |
| 156139403 | CV2082232 | single nucleotide variant | NM_001370259.2(MEN1):c.219C>A (p.Gly73=) | Multiple endocrine neoplasia, type 1 [RCV002871928] | likely benign | 11 | 64809891 | 64809891 | Human | 1 | name |
| 156010734 | CV2100046 | single nucleotide variant | NM_001370259.2(MEN1):c.108C>T (p.Leu36=) | Multiple endocrine neoplasia, type 1 [RCV002909092] | benign|likely benign | 11 | 64810002 | 64810002 | Human | 1 | name |
| 10407312 | CV212950 | single nucleotide variant | NM_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 benign | 11 | 64809995 | 64809995 | Human | 3 | name , alternate_id |
| 10768083 | CV222155 | single nucleotide variant | NM_001370259.2(MEN1):c.1299= (p.His433=) | Multiple endocrine neoplasia, type 1 [RCV001082521]|not provided [RCV001812213] | benign | 11 | 64805085 | 64805085 | Human | 1 | name |
| 10768504 | CV222165 | single nucleotide variant | NM_001370259.2(MEN1):c.282C>T (p.Thr94=) | Hereditary cancer-predisposing syndrome [RCV000566889]|Multiple endocrine neoplasia, type 1 [RCV000206522] | benign|likely benign | 11 | 64809828 | 64809828 | Human | 2 | name |
| 329368190 | CV2424215 | single nucleotide variant | NM_001370259.2(MEN1):c.183C>T (p.Leu61=) | Hereditary cancer-predisposing syndrome [RCV003183539]|Multiple endocrine neoplasia, type 1 [RCV003631300] | likely benign | 11 | 64809927 | 64809927 | Human | 2 | name |
| 329370612 | CV2426171 | single nucleotide variant | NM_001370259.2(MEN1):c.285C>G (p.Ala95=) | Hereditary cancer-predisposing syndrome [RCV003172092] | likely benign | 11 | 64809825 | 64809825 | Human | 1 | name |
| 401781047 | CV2734135 | single nucleotide variant | NM_001370259.2(MEN1):c.25A>C (p.Thr9Pro) | Hereditary cancer-predisposing syndrome [RCV003288364] | uncertain significance | 11 | 64810085 | 64810085 | Human | 1 | name |
| 401781050 | CV2734136 | single nucleotide variant | NM_001370259.2(MEN1):c.23A>C (p.Lys8Thr) | Hereditary cancer-predisposing syndrome [RCV003288365] | uncertain significance | 11 | 64810087 | 64810087 | Human | 1 | name |
| 401878256 | CV2790764 | single nucleotide variant | NM_001370259.2(MEN1):c.144G>A (p.Leu48=) | Hereditary cancer-predisposing syndrome [RCV003384132]|Multiple endocrine neoplasia, type 1 [RCV003631319] | benign|likely benign | 11 | 64809966 | 64809966 | Human | 2 | name |
| 405045184 | CV2891033 | single nucleotide variant | NM_001370259.2(MEN1):c.26C>T (p.Thr9Met) | Multiple endocrine neoplasia, type 1 [RCV003518366] | uncertain significance | 11 | 64810084 | 64810084 | Human | 1 | name |
| 405033184 | CV2909761 | deletion | NM_001370259.2(MEN1):c.1350+3_1350+22del | Multiple endocrine neoplasia, type 1 [RCV003516992] | uncertain significance | 11 | 64805012 | 64805031 | Human | 1 | name |
| 405037360 | CV2911322 | single nucleotide variant | NM_001370259.2(MEN1):c.297C>T (p.Gly99=) | Multiple endocrine neoplasia, type 1 [RCV003517601] | likely benign|conflicting interpretations of pathogenicity | 11 | 64809813 | 64809813 | Human | 1 | name |
| 405038703 | CV2932306 | single nucleotide variant | NM_001370259.2(MEN1):c.210C>T (p.Asp70=) | Multiple endocrine neoplasia, type 1 [RCV003517749] | likely benign | 11 | 64809900 | 64809900 | Human | 1 | name |
| 405052550 | CV2948541 | single nucleotide variant | NM_001370259.2(MEN1):c.129C>T (p.Phe43=) | Hereditary cancer-predisposing syndrome [RCV005377443]|Multiple endocrine neoplasia, type 1 [RCV003631427] | benign|likely benign | 11 | 64809981 | 64809981 | Human | 2 | name |
| 405054895 | CV2972918 | single nucleotide variant | NM_001370259.2(MEN1):c.105G>A (p.Val35=) | Multiple endocrine neoplasia, type 1 [RCV003631669] | likely benign | 11 | 64810005 | 64810005 | Human | 1 | name |
| 405056151 | CV2979394 | duplication | NM_001370259.2(MEN1):c.35dup (p.Leu13fs) | Multiple endocrine neoplasia, type 1 [RCV003631817] | pathogenic | 11 | 64810074 | 64810075 | Human | 1 | name |
| 405055668 | CV2981969 | single nucleotide variant | NM_001370259.2(MEN1):c.267C>T (p.Leu89=) | Multiple endocrine neoplasia, type 1 [RCV003631773] | likely benign | 11 | 64809843 | 64809843 | Human | 1 | name |
| 405060544 | CV3018889 | single nucleotide variant | NM_001370259.2(MEN1):c.270T>C (p.Tyr90=) | Multiple endocrine neoplasia, type 1 [RCV003632212] | likely benign | 11 | 64809840 | 64809840 | Human | 1 | name |
| 405013050 | CV3128182 | single nucleotide variant | NM_001370259.2(MEN1):c.144G>T (p.Leu48=) | Multiple endocrine neoplasia, type 1 [RCV003829062] | benign|likely benign | 11 | 64809966 | 64809966 | Human | 1 | name |
| 405731723 | CV3229117 | single nucleotide variant | NM_001370259.2(MEN1):c.249G>C (p.Leu83=) | Multiple endocrine neoplasia, type 1 [RCV004013867] | likely benign | 11 | 64809861 | 64809861 | Human | 1 | name |
| 405748028 | CV3232899 | single nucleotide variant | NM_001370259.2(MEN1):c.19C>A (p.Gln7Lys) | Multiple endocrine neoplasia, type 1 [RCV004015858] | uncertain significance | 11 | 64810091 | 64810091 | Human | 1 | name |
| 405712601 | CV3382232 | single nucleotide variant | NM_001370259.2(MEN1):c.294A>C (p.Arg98=) | Hereditary cancer-predisposing syndrome [RCV004522716] | likely benign | 11 | 64809816 | 64809816 | Human | 1 | name |
| 405871406 | CV3400885 | single nucleotide variant | NM_001370259.2(MEN1):c.14C>T (p.Ala5Val) | Hereditary cancer-predisposing syndrome [RCV004943312]|Multiple endocrine neoplasia, type 1 [RCV004574839] | uncertain significance | 11 | 64810096 | 64810096 | Human | 2 | name |
| 407502730 | CV3449863 | single nucleotide variant | NM_001370259.2(MEN1):c.216T>A (p.Pro72=) | Hereditary cancer-predisposing syndrome [RCV004645246] | likely benign | 11 | 64809894 | 64809894 | Human | 1 | name |
| 596941314 | CV3546164 | single nucleotide variant | NM_001370259.2(MEN1):c.13G>A (p.Ala5Thr) | Multiple endocrine neoplasia, type 1 [RCV004806793] | uncertain significance | 11 | 64810097 | 64810097 | Human | 1 | name |
| 597650335 | CV3556627 | deletion | NM_001370259.2(MEN1):c.42del (p.Ser15fs) | Hereditary cancer-predisposing syndrome [RCV004943362] | pathogenic | 11 | 64810068 | 64810068 | Human | 1 | name |
| 597650243 | CV3556661 | single nucleotide variant | NM_001370259.2(MEN1):c.261C>T (p.Ala87=) | Hereditary cancer-predisposing syndrome [RCV004943395]|Multiple endocrine neoplasia, type 1 [RCV005249720] | benign|likely benign | 11 | 64809849 | 64809849 | Human | 2 | name |
| 597850479 | CV3746908 | single nucleotide variant | NM_001370259.2(MEN1):c.102G>T (p.Leu34=) | Multiple endocrine neoplasia, type 1 [RCV005060536] | likely benign | 11 | 64810008 | 64810008 | Human | 1 | name |
| 598121541 | CV3889564 | single nucleotide variant | NM_001370259.2(MEN1):c.207C>T (p.Pro69=) | Multiple endocrine neoplasia, type 1 [RCV005247666] | benign | 11 | 64809903 | 64809903 | Human | 1 | name |
| 598121551 | CV3889574 | single nucleotide variant | NM_001370259.2(MEN1):c.279C>T (p.Phe93=) | Multiple endocrine neoplasia, type 1 [RCV005247676] | benign | 11 | 64809831 | 64809831 | Human | 1 | name |
| 598121556 | CV3889579 | single nucleotide variant | NM_001370259.2(MEN1):c.132G>A (p.Val44=) | Multiple endocrine neoplasia, type 1 [RCV005247681] | benign | 11 | 64809978 | 64809978 | Human | 1 | name |
| 12888045 | CV398422 | single nucleotide variant | NM_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 significance | 11 | 64809843 | 64809843 | Human | 2 | name |
| 598225718 | CV3985822 | single nucleotide variant | NM_001370259.2(MEN1):c.207C>G (p.Pro69=) | Hereditary cancer-predisposing syndrome [RCV005380452] | likely benign | 11 | 64809903 | 64809903 | Human | 1 | name |
| 12882728 | CV398750 | single nucleotide variant | NM_001370259.2(MEN1):c.201C>T (p.Pro67=) | Hereditary cancer-predisposing syndrome [RCV000563989]|Multiple endocrine neoplasia, type 1 [RCV000460216] | benign|likely benign | 11 | 64809909 | 64809909 | Human | 2 | name |
| 12885633 | CV398755 | single nucleotide variant | NM_001370259.2(MEN1):c.165T>A (p.Pro55=) | Multiple endocrine neoplasia, type 1 [RCV001498825] | likely benign | 11 | 64809945 | 64809945 | Human | 1 | name |
| 12912130 | CV419788 | insertion | NM_130799.2(MEN1):c.1391_1392ins13 (p.?) | Hereditary cancer-predisposing syndrome [RCV000490991] | pathogenic | 11 | 64804775 | 64804776 | Human | 1 | name |
| 8569651 | CV45189 | single nucleotide variant | NM_001370259.2(MEN1):c.249G>A (p.Leu83=) | Multiple endocrine neoplasia, type 1 [RCV000030200] | likely benign | 11 | 64809861 | 64809861 | Human | 1 | name |
| 13504343 | CV461852 | single nucleotide variant | NM_001370259.2(MEN1):c.153C>T (p.Asn51=) | Hereditary cancer-predisposing syndrome [RCV002404382]|Multiple endocrine neoplasia, type 1 [RCV000527744] | benign|likely benign | 11 | 64809957 | 64809957 | Human | 2 | name |
| 13490462 | CV461854 | single nucleotide variant | NM_001370259.2(MEN1):c.114C>G (p.Ser38=) | Hereditary cancer-predisposing syndrome [RCV002456059]|Multiple endocrine neoplasia, type 1 [RCV000533537] | benign|likely benign | 11 | 64809996 | 64809996 | Human | 2 | name |
| 13468062 | CV462201 | single nucleotide variant | NM_001370259.2(MEN1):c.162C>T (p.Ile54=) | Hereditary cancer-predisposing syndrome [RCV000562193]|Multiple endocrine neoplasia, type 1 [RCV001505816] | likely benign | 11 | 64809948 | 64809948 | Human | 2 | name |
| 13476112 | CV475986 | single nucleotide variant | NM_001370259.2(MEN1):c.16G>T (p.Ala6Ser) | Hereditary cancer-predisposing syndrome [RCV000565141]|Multiple endocrine neoplasia, type 1 [RCV000632111] | conflicting interpretations of pathogenicity|uncertain significance | 11 | 64810094 | 64810094 | Human | 2 | name |
| 8604970 | CV50291 | single nucleotide variant | NM_001370259.2(MEN1):c.1621= (p.Thr541=) | Multiple endocrine neoplasia, type 1 [RCV001084452]|Primary hyperparathyroidism [RCV000210359]|not provided [RCV000034785]|not specified [RCV000082334] | benign|uncertain significance | 11 | 64804546 | 64804546 | Human | 3 | name |
| 13525828 | CV503711 | single nucleotide variant | NM_001370259.2(MEN1):c.225C>A (p.Leu75=) | Multiple endocrine neoplasia, type 1 [RCV001427745]|not specified [RCV000603478] | likely benign | 11 | 64809885 | 64809885 | Human | 1 | name |
| 13614601 | CV526382 | single nucleotide variant | NM_001370259.2(MEN1):c.132G>T (p.Val44=) | Multiple endocrine neoplasia, type 1 [RCV000632155] | likely benign | 11 | 64809978 | 64809978 | Human | 1 | name |
| 13614590 | CV526407 | single nucleotide variant | NM_001370259.2(MEN1):c.183C>A (p.Leu61=) | Multiple endocrine neoplasia, type 1 [RCV000632146] | likely benign | 11 | 64809927 | 64809927 | Human | 1 | name |
| 13614611 | CV526419 | single nucleotide variant | NM_001370259.2(MEN1):c.100C>T (p.Leu34=) | Hereditary cancer-predisposing syndrome [RCV004025414]|Multiple endocrine neoplasia, type 1 [RCV000632162] | benign|likely benign | 11 | 64810010 | 64810010 | Human | 2 | name |
| 13614594 | CV526677 | single nucleotide variant | NM_001370259.2(MEN1):c.240G>T (p.Val80=) | Hereditary cancer-predisposing syndrome [RCV005367471]|Multiple endocrine neoplasia, type 1 [RCV000632150] | likely benign | 11 | 64809870 | 64809870 | Human | 2 | name |
| 13614632 | CV526909 | single nucleotide variant | NM_001370259.2(MEN1):c.195C>A (p.Pro65=) | Multiple endocrine neoplasia, type 1 [RCV000632176] | likely benign | 11 | 64809915 | 64809915 | Human | 1 | name |
| 13614553 | CV526916 | single nucleotide variant | NM_001370259.2(MEN1):c.177C>T (p.Pro59=) | Hereditary cancer-predisposing syndrome [RCV004944029]|Multiple endocrine neoplasia, type 1 [RCV000632118] | likely benign|uncertain significance | 11 | 64809933 | 64809933 | Human | 2 | name |
| 13796484 | CV551891 | single nucleotide variant | NM_001370259.2(MEN1):c.177C>G (p.Pro59=) | Hereditary cancer-predisposing syndrome [RCV004639316]|Multiple endocrine neoplasia, type 1 [RCV002060848]|not provided [RCV000679254] | benign|likely benign | 11 | 64809933 | 64809933 | Human | 2 | name |
| 14710248 | CV640319 | single nucleotide variant | NM_001370259.2(MEN1):c.11A>C (p.Lys4Thr) | Hereditary cancer-predisposing syndrome [RCV003307425]|Multiple endocrine neoplasia, type 1 [RCV000793073] | uncertain significance | 11 | 64810099 | 64810099 | Human | 2 | name |
| 15158614 | CV687808 | single nucleotide variant | NM_001370259.2(MEN1):c.225C>T (p.Leu75=) | Hereditary cancer-predisposing syndrome [RCV002442837]|Multiple endocrine neoplasia, type 1 [RCV001436230] | benign|likely benign | 11 | 64809885 | 64809885 | Human | 2 | name |
| 15164145 | CV724573 | single nucleotide variant | NM_001370259.2(MEN1):c.252T>C (p.Ser84=) | Hereditary cancer-predisposing syndrome [RCV004028314]|Multiple endocrine neoplasia, type 1 [RCV001505382] | benign|likely benign | 11 | 64809858 | 64809858 | Human | 2 | name |
| 15186810 | CV738108 | single nucleotide variant | NM_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 significance | 11 | 64809882 | 64809882 | Human | 2 | name |
| 15176515 | CV768584 | single nucleotide variant | NM_001370259.2(MEN1):c.165T>C (p.Pro55=) | Multiple endocrine neoplasia, type 1 [RCV001482401] | likely benign | 11 | 64809945 | 64809945 | Human | 1 | name |
| 15119163 | CV768585 | single nucleotide variant | NM_001370259.2(MEN1):c.159C>T (p.Val53=) | Multiple endocrine neoplasia, type 1 [RCV001407849]|not provided [RCV004704351] | likely benign | 11 | 64809951 | 64809951 | Human | 1 | name |
| 15109609 | CV768586 | single nucleotide variant | NM_001370259.2(MEN1):c.120G>T (p.Val40=) | Multiple endocrine neoplasia, type 1 [RCV001478208] | likely benign | 11 | 64809990 | 64809990 | Human | 1 | name |
| 15131027 | CV768587 | single nucleotide variant | NM_001370259.2(MEN1):c.108C>G (p.Leu36=) | Multiple endocrine neoplasia, type 1 [RCV001493987] | likely benign | 11 | 64810002 | 64810002 | Human | 1 | name |
| 15112138 | CV768588 | single nucleotide variant | NM_001370259.2(MEN1):c.102G>A (p.Leu34=) | Hereditary cancer-predisposing syndrome [RCV002382145]|Multiple endocrine neoplasia, type 1 [RCV001402881] | likely benign | 11 | 64810008 | 64810008 | Human | 2 | name |
| 15126371 | CV784077 | single nucleotide variant | NM_001370259.2(MEN1):c.156C>A (p.Arg52=) | Multiple endocrine neoplasia, type 1 [RCV001451254] | likely benign | 11 | 64809954 | 64809954 | Human | 1 | name |
| 25328587 | CV810839 | single nucleotide variant | NM_001370259.2(MEN1):c.258C>T (p.Ile86=) | Hereditary cancer-predisposing syndrome [RCV001016032]|Multiple endocrine neoplasia, type 1 [RCV001426905] | benign|likely benign | 11 | 64809852 | 64809852 | Human | 2 | name |
| 25328224 | CV810840 | single nucleotide variant | NM_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 benign | 11 | 64809873 | 64809873 | Human | 3 | name , alternate_id |
| 25323156 | CV810844 | single nucleotide variant | NM_001370259.2(MEN1):c.121C>T (p.Leu41=) | Hereditary cancer-predisposing syndrome [RCV001010404]|Multiple endocrine neoplasia, type 1 [RCV001427949] | benign|likely benign | 11 | 64809989 | 64809989 | Human | 2 | name |
| 25315718 | CV810848 | deletion | NM_001370259.2(MEN1):c.32del (p.Phe11fs) | Hereditary cancer-predisposing syndrome [RCV001019781] | pathogenic | 11 | 64810078 | 64810078 | Human | 1 | name |
| 25325872 | CV810849 | single nucleotide variant | NM_001370259.2(MEN1):c.16G>A (p.Ala6Thr) | Hereditary cancer-predisposing syndrome [RCV001012794]|Multiple endocrine neoplasia, type 1 [RCV001222652] | uncertain significance | 11 | 64810094 | 64810094 | Human | 2 | name |
| 26892495 | CV838745 | single nucleotide variant | NM_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 significance | 11 | 64809882 | 64809882 | Human | 2 | name |
| 38489739 | CV935686 | single nucleotide variant | NM_001370259.2(MEN1):c.22A>G (p.Lys8Glu) | Multiple endocrine neoplasia, type 1 [RCV001210328] | uncertain significance | 11 | 64810088 | 64810088 | Human | 1 | name |
| 40904057 | CV976354 | single nucleotide variant | NM_001370259.2(MEN1):c.20A>C (p.Gln7Pro) | Hereditary cancer-predisposing syndrome [RCV002418869]|not provided [RCV001269893] | pathogenic|uncertain significance | 11 | 64810090 | 64810090 | Human | 1 | name |
| 40903997 | CV976355 | single nucleotide variant | NM_001370259.2(MEN1):c.19C>T (p.Gln7Ter) | Multiple endocrine neoplasia, type 1 [RCV003517321]|not provided [RCV001269824] | pathogenic | 11 | 64810091 | 64810091 | Human | 1 | name |
| 126731535 | CV1000741 | single nucleotide variant | NM_001370259.2(MEN1):c.615C>T (p.Asp205=) | Hereditary cancer-predisposing syndrome [RCV004629555]|Multiple endocrine neoplasia, type 1 [RCV003631197]|not provided [RCV001310604] | likely benign | 11 | 64807930 | 64807930 | Human | 2 | name |
| 126752526 | CV1009835 | single nucleotide variant | NM_001370259.2(MEN1):c.82G>C (p.Gly28Arg) | Hereditary cancer-predisposing syndrome [RCV002431933]|Multiple endocrine neoplasia, type 1 [RCV001327130] | uncertain significance | 11 | 64810028 | 64810028 | Human | 2 | name |
| 8643163 | CV102146 | single nucleotide variant | NM_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 benign | 11 | 64809675 | 64809675 | Human | 4 | name |
| 126911015 | CV1038080 | single nucleotide variant | NM_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 significance | 11 | 64809761 | 64809761 | Human | 2 | name |
| 126922913 | CV1047368 | single nucleotide variant | NM_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 significance | 11 | 64807900 | 64807900 | Human | 2 | name |
| 126908239 | CV1052600 | deletion | NM_001370259.2(MEN1):c.201del (p.Ala68fs) | Multiple endocrine neoplasia, type 1 [RCV001374378] | pathogenic | 11 | 64809909 | 64809909 | Human | 1 | name |
| 127266664 | CV1062435 | deletion | NM_001370259.2(MEN1):c.238del (p.Val80fs) | Multiple endocrine neoplasia, type 1 [RCV001381751] | pathogenic | 11 | 64809872 | 64809872 | Human | 1 | name |
| 127272664 | CV1062436 | duplication | NM_001370259.2(MEN1):c.234dup (p.Pro79fs) | Hereditary cancer-predisposing syndrome [RCV003382568]|Multiple endocrine neoplasia, type 1 [RCV001390533] | pathogenic | 11 | 64809875 | 64809876 | Human | 2 | name |
| 127238747 | CV1078484 | single nucleotide variant | NM_001370259.2(MEN1):c.996C>T (p.Arg332=) | Multiple endocrine neoplasia, type 1 [RCV001392528] | likely benign | 11 | 64806285 | 64806285 | Human | 1 | name |
| 127263733 | CV1078485 | single nucleotide variant | NM_001370259.2(MEN1):c.954C>A (p.Ile318=) | Multiple endocrine neoplasia, type 1 [RCV001403075] | likely benign | 11 | 64806327 | 64806327 | Human | 1 | name |
| 127232517 | CV1078487 | single nucleotide variant | NM_001370259.2(MEN1):c.876C>T (p.Thr292=) | Hereditary cancer-predisposing syndrome [RCV002377644]|Multiple endocrine neoplasia, type 1 [RCV001413493] | benign|likely benign | 11 | 64807047 | 64807047 | Human | 2 | name |
| 127281296 | CV1078488 | single nucleotide variant | NM_001370259.2(MEN1):c.792C>G (p.Leu264=) | Hereditary cancer-predisposing syndrome [RCV002420917]|Multiple endocrine neoplasia, type 1 [RCV001410365] | benign|likely benign | 11 | 64807211 | 64807211 | Human | 2 | name |
| 127249910 | CV1078490 | single nucleotide variant | NM_001370259.2(MEN1):c.681C>T (p.Tyr227=) | Hereditary cancer-predisposing syndrome [RCV002368305]|Multiple endocrine neoplasia, type 1 [RCV001417430]|not provided [RCV001532640] | benign|likely benign | 11 | 64807654 | 64807654 | Human | 2 | name |
| 127230113 | CV1078491 | single nucleotide variant | NM_001370259.2(MEN1):c.669G>A (p.Leu223=) | Multiple endocrine neoplasia, type 1 [RCV001412353] | likely benign | 11 | 64807666 | 64807666 | Human | 1 | name |
| 127230825 | CV1078492 | single nucleotide variant | NM_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 significance | 11 | 64807678 | 64807678 | Human | 2 | name |
| 127281735 | CV1078494 | single nucleotide variant | NM_001370259.2(MEN1):c.411G>T (p.Arg137=) | Multiple endocrine neoplasia, type 1 [RCV001410663] | likely benign | 11 | 64809699 | 64809699 | Human | 1 | name |
| 127233167 | CV1078495 | single nucleotide variant | NM_001370259.2(MEN1):c.321T>C (p.Pro107=) | Multiple endocrine neoplasia, type 1 [RCV001396015] | likely benign | 11 | 64809789 | 64809789 | Human | 1 | name |
| 127280331 | CV1100220 | single nucleotide variant | NM_001370259.2(MEN1):c.972G>C (p.Leu324=) | Multiple endocrine neoplasia, type 1 [RCV001446383] | likely benign | 11 | 64806309 | 64806309 | Human | 1 | name |
| 127282733 | CV1100225 | single nucleotide variant | NM_001370259.2(MEN1):c.652C>A (p.Arg218=) | Multiple endocrine neoplasia, type 1 [RCV001448064] | likely benign | 11 | 64807893 | 64807893 | Human | 1 | name |
| 127232552 | CV1100226 | single nucleotide variant | NM_001370259.2(MEN1):c.627G>A (p.Gln209=) | Multiple endocrine neoplasia, type 1 [RCV001421353] | benign|likely benign | 11 | 64807918 | 64807918 | Human | 1 | name |
| 127277223 | CV1100227 | single nucleotide variant | NM_001370259.2(MEN1):c.504G>A (p.Leu168=) | Hereditary cancer-predisposing syndrome [RCV004038425]|Multiple endocrine neoplasia, type 1 [RCV001444252]|not provided [RCV003399233] | likely benign | 11 | 64808041 | 64808041 | Human | 2 | name |
| 127281746 | CV1100228 | single nucleotide variant | NM_001370259.2(MEN1):c.300C>T (p.Ala100=) | Multiple endocrine neoplasia, type 1 [RCV001447332] | benign|likely benign | 11 | 64809810 | 64809810 | Human | 1 | name |
| 127306827 | CV1121715 | single nucleotide variant | NM_001370259.2(MEN1):c.582T>A (p.Ala194=) | Hereditary cancer-predisposing syndrome [RCV004641652]|Multiple endocrine neoplasia, type 1 [RCV001462864] | benign|likely benign | 11 | 64807963 | 64807963 | Human | 2 | name |
| 127313335 | CV1121717 | single nucleotide variant | NM_001370259.2(MEN1):c.360G>A (p.Lys120=) | Multiple endocrine neoplasia, type 1 [RCV001464659] | benign|likely benign | 11 | 64809750 | 64809750 | Human | 1 | name |
| 127301911 | CV1142553 | single nucleotide variant | NM_001370259.2(MEN1):c.936C>T (p.Tyr312=) | Hereditary cancer-predisposing syndrome [RCV002377870]|Multiple endocrine neoplasia, type 1 [RCV001498978] | benign|likely benign | 11 | 64806345 | 64806345 | Human | 2 | name |
| 127299215 | CV1142554 | single nucleotide variant | NM_001370259.2(MEN1):c.933C>A (p.Thr311=) | Hereditary cancer-predisposing syndrome [RCV004037392]|Multiple endocrine neoplasia, type 1 [RCV001498250] | likely benign | 11 | 64806348 | 64806348 | Human | 2 | name |
| 127322619 | CV1142555 | single nucleotide variant | NM_001370259.2(MEN1):c.903C>G (p.Leu301=) | Hereditary cancer-predisposing syndrome [RCV003382609]|Multiple endocrine neoplasia, type 1 [RCV001484984] | likely benign | 11 | 64807020 | 64807020 | Human | 2 | name |
| 127314295 | CV1142556 | single nucleotide variant | NM_001370259.2(MEN1):c.807C>T (p.Asp269=) | Multiple endocrine neoplasia, type 1 [RCV001482190] | likely benign | 11 | 64807196 | 64807196 | Human | 1 | name |
| 127325752 | CV1142558 | single nucleotide variant | NM_001370259.2(MEN1):c.663G>C (p.Leu221=) | Multiple endocrine neoplasia, type 1 [RCV001506095] | benign|likely benign | 11 | 64807672 | 64807672 | Human | 1 | name |
| 127328601 | CV1142559 | single nucleotide variant | NM_001370259.2(MEN1):c.480T>C (p.Ala160=) | Hereditary cancer-predisposing syndrome [RCV002342098]|Multiple endocrine neoplasia, type 1 [RCV001486862] | benign|likely benign | 11 | 64808065 | 64808065 | Human | 2 | name |
| 151802555 | CV1361427 | single nucleotide variant | NM_001370259.2(MEN1):c.52G>T (p.Asp18Tyr) | Multiple endocrine neoplasia, type 1 [RCV001926002] | uncertain significance | 11 | 64810058 | 64810058 | Human | 1 | name |
| 8688775 | CV136488 | single nucleotide variant | NM_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 benign | 11 | 64807948 | 64807948 | Human | 2 | name |
| 151798165 | CV1377298 | deletion | NM_001370259.2(MEN1):c.234del (p.Val80fs) | Multiple endocrine neoplasia, type 1 [RCV001917452] | pathogenic | 11 | 64809876 | 64809876 | Human | 1 | name |
| 151721914 | CV1378617 | single nucleotide variant | NM_001370259.2(MEN1):c.88G>A (p.Glu30Lys) | Hereditary cancer-predisposing syndrome [RCV003299031]|Multiple endocrine neoplasia, type 1 [RCV002041388] | uncertain significance | 11 | 64810022 | 64810022 | Human | 2 | name |
| 8689956 | CV139883 | single nucleotide variant | NM_001370259.2(MEN1):c.591C>G (p.Thr197=) | Hereditary cancer-predisposing syndrome [RCV002354309]|Multiple endocrine neoplasia, type 1 [RCV000123387] | benign|likely benign|uncertain significance | 11 | 64807954 | 64807954 | Human | 2 | name |
| 151711404 | CV1451139 | duplication | NM_001370259.2(MEN1):c.152dup (p.Asn51fs) | Multiple endocrine neoplasia, type 1 [RCV002002502] | pathogenic | 11 | 64809957 | 64809958 | Human | 1 | name |
| 151805331 | CV1490178 | single nucleotide variant | NM_001370259.2(MEN1):c.95C>T (p.Pro32Leu) | Hereditary cancer-predisposing syndrome [RCV002386734]|Multiple endocrine neoplasia, type 1 [RCV001930980] | uncertain significance | 11 | 64810015 | 64810015 | Human | 2 | name |
| 152055779 | CV1526211 | single nucleotide variant | NM_001370259.2(MEN1):c.336C>T (p.Val112=) | Hereditary cancer-predisposing syndrome [RCV002454356]|Multiple endocrine neoplasia, type 1 [RCV002170731] | likely benign | 11 | 64809774 | 64809774 | Human | 2 | name |
| 152050442 | CV1530893 | single nucleotide variant | NM_001370259.2(MEN1):c.921C>G (p.Ala307=) | Multiple endocrine neoplasia, type 1 [RCV002123150] | likely benign | 11 | 64806360 | 64806360 | Human | 1 | name |
| 152051944 | CV1533890 | single nucleotide variant | NM_001370259.2(MEN1):c.990C>A (p.Arg330=) | Hereditary cancer-predisposing syndrome [RCV003382857]|Multiple endocrine neoplasia, type 1 [RCV002136434] | likely benign | 11 | 64806291 | 64806291 | Human | 2 | name |
| 152055040 | CV1536346 | single nucleotide variant | NM_001370259.2(MEN1):c.846C>T (p.Asn282=) | Hereditary cancer-predisposing syndrome [RCV004945967]|Multiple endocrine neoplasia, type 1 [RCV002163359] | likely benign | 11 | 64807077 | 64807077 | Human | 2 | name |
| 152048933 | CV1540699 | single nucleotide variant | NM_001370259.2(MEN1):c.573G>A (p.Glu191=) | Multiple endocrine neoplasia, type 1 [RCV002110099] | likely benign | 11 | 64807972 | 64807972 | Human | 1 | name |
| 152045114 | CV1548343 | single nucleotide variant | NM_001370259.2(MEN1):c.852A>G (p.Ala284=) | Hereditary cancer-predisposing syndrome [RCV002443206]|Multiple endocrine neoplasia, type 1 [RCV002076478] | likely benign | 11 | 64807071 | 64807071 | Human | 2 | name |
| 152045404 | CV1548573 | single nucleotide variant | NM_001370259.2(MEN1):c.387C>G (p.Leu129=) | Hereditary cancer-predisposing syndrome [RCV002363637]|Multiple endocrine neoplasia, type 1 [RCV002079288] | benign|likely benign | 11 | 64809723 | 64809723 | Human | 2 | name |
| 152052294 | CV1566614 | single nucleotide variant | NM_001370259.2(MEN1):c.990C>T (p.Arg330=) | Multiple endocrine neoplasia, type 1 [RCV002139327] | likely benign | 11 | 64806291 | 64806291 | Human | 1 | name |
| 152061391 | CV1568009 | microsatellite | NM_001370259.2(MEN1):c.1351-24_1351-14del | Multiple endocrine neoplasia, type 1 [RCV002218121]|not specified [RCV005238223] | benign|likely benign | 11 | 64804830 | 64804840 | Human | | name |
| 152053519 | CV1573923 | single nucleotide variant | NM_001370259.2(MEN1):c.489G>A (p.Gly163=) | Multiple endocrine neoplasia, type 1 [RCV002150012] | likely benign | 11 | 64808056 | 64808056 | Human | 1 | name |
| 152053721 | CV1578668 | single nucleotide variant | NM_001370259.2(MEN1):c.690T>C (p.Cys230=) | Multiple endocrine neoplasia, type 1 [RCV002151686] | likely benign | 11 | 64807645 | 64807645 | Human | 1 | name |
| 152056117 | CV1579364 | single nucleotide variant | NM_001370259.2(MEN1):c.591C>T (p.Thr197=) | Hereditary cancer-predisposing syndrome [RCV002352927]|Multiple endocrine neoplasia, type 1 [RCV002173888] | benign|likely benign | 11 | 64807954 | 64807954 | Human | 2 | name |
| 152045845 | CV1584958 | single nucleotide variant | NM_001370259.2(MEN1):c.864G>A (p.Glu288=) | Hereditary cancer-predisposing syndrome [RCV002372878]|Multiple endocrine neoplasia, type 1 [RCV002082950] | likely benign | 11 | 64807059 | 64807059 | Human | 2 | name |
| 152058146 | CV1590039 | single nucleotide variant | NM_001370259.2(MEN1):c.876C>G (p.Thr292=) | Hereditary cancer-predisposing syndrome [RCV002373033]|Multiple endocrine neoplasia, type 1 [RCV002193835] | benign|likely benign | 11 | 64807047 | 64807047 | Human | 2 | name |
| 152058251 | CV1602873 | single nucleotide variant | NM_001370259.2(MEN1):c.528C>A (p.Ala176=) | Hereditary cancer-predisposing syndrome [RCV004047136]|Multiple endocrine neoplasia, type 1 [RCV002194362] | likely benign | 11 | 64808017 | 64808017 | Human | 2 | name |
| 152045213 | CV1603355 | single nucleotide variant | NM_001370259.2(MEN1):c.303C>G (p.Val101=) | Multiple endocrine neoplasia, type 1 [RCV002077438] | likely benign | 11 | 64809807 | 64809807 | Human | 1 | name |
| 152046365 | CV1605583 | single nucleotide variant | NM_001370259.2(MEN1):c.555G>T (p.Val185=) | Multiple endocrine neoplasia, type 1 [RCV002087434] | likely benign | 11 | 64807990 | 64807990 | Human | 1 | name |
| 152055301 | CV1615743 | single nucleotide variant | NM_001370259.2(MEN1):c.777G>A (p.Leu259=) | Multiple endocrine neoplasia, type 1 [RCV002166589] | likely benign | 11 | 64807558 | 64807558 | Human | 1 | name |
| 152048300 | CV1628884 | single nucleotide variant | NM_001370259.2(MEN1):c.744C>T (p.Asp248=) | Hereditary cancer-predisposing syndrome [RCV005375046]|Multiple endocrine neoplasia, type 1 [RCV002104933] | likely benign | 11 | 64807591 | 64807591 | Human | 2 | name |
| 152060312 | CV1629638 | single nucleotide variant | NM_001370259.2(MEN1):c.792C>T (p.Leu264=) | Hereditary cancer-predisposing syndrome [RCV005375040]|Multiple endocrine neoplasia, type 1 [RCV002208835] | likely benign | 11 | 64807211 | 64807211 | Human | 2 | name |
| 152052887 | CV1637603 | single nucleotide variant | NM_001370259.2(MEN1):c.528C>G (p.Ala176=) | Hereditary cancer-predisposing syndrome [RCV002346457]|Multiple endocrine neoplasia, type 1 [RCV002144736] | likely benign | 11 | 64808017 | 64808017 | Human | 2 | name |
| 152057156 | CV1641841 | single nucleotide variant | NM_001370259.2(MEN1):c.666C>T (p.Tyr222=) | Hereditary cancer-predisposing syndrome [RCV002363699]|Multiple endocrine neoplasia, type 1 [RCV002184066] | likely benign | 11 | 64807669 | 64807669 | Human | 2 | name |
| 152056320 | CV1641934 | single nucleotide variant | NM_001370259.2(MEN1):c.342C>T (p.Ser114=) | Hereditary cancer-predisposing syndrome [RCV002454562]|Multiple endocrine neoplasia, type 1 [RCV002176239] | likely benign | 11 | 64809768 | 64809768 | Human | 2 | name |
| 152046730 | CV1652290 | single nucleotide variant | NM_001370259.2(MEN1):c.954C>T (p.Ile318=) | Hereditary cancer-predisposing syndrome [RCV002372891]|Multiple endocrine neoplasia, type 1 [RCV002090682] | likely benign | 11 | 64806327 | 64806327 | Human | 2 | name |
| 152031306 | CV1668791 | deletion | NM_001370259.2(MEN1):c.274del (p.Arg92fs) | Multiple endocrine neoplasia, type 1 [RCV002223017] | pathogenic|likely pathogenic | 11 | 64809836 | 64809836 | Human | 1 | name |
| 153001606 | CV1684510 | single nucleotide variant | NM_001370259.2(MEN1):c.52G>A (p.Asp18Asn) | Hereditary cancer-predisposing syndrome [RCV002257046] | uncertain significance | 11 | 64810058 | 64810058 | Human | 1 | name |
| 155664372 | CV1785998 | single nucleotide variant | NM_001370259.2(MEN1):c.33C>G (p.Phe11Leu) | Hereditary cancer-predisposing syndrome [RCV002452020]|Multiple endocrine neoplasia, type 1 [RCV003099455] | uncertain significance | 11 | 64810077 | 64810077 | Human | 2 | name |
| 155676445 | CV1796142 | single nucleotide variant | NM_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 significance | 11 | 64810075 | 64810075 | Human | 2 | name |
| 155741011 | CV1797467 | single nucleotide variant | NM_001370259.2(MEN1):c.414C>G (p.Ala138=) | Hereditary cancer-predisposing syndrome [RCV002333210] | likely benign | 11 | 64809696 | 64809696 | Human | 1 | name |
| 155707535 | CV1798677 | single nucleotide variant | NM_001370259.2(MEN1):c.468T>G (p.Gly156=) | Hereditary cancer-predisposing syndrome [RCV002335251] | likely benign | 11 | 64808077 | 64808077 | Human | 1 | name |
| 155707800 | CV1798728 | single nucleotide variant | NM_001370259.2(MEN1):c.46A>G (p.Ile16Val) | Hereditary cancer-predisposing syndrome [RCV002335295] | uncertain significance | 11 | 64810064 | 64810064 | Human | 1 | name |
| 155669080 | CV1800016 | single nucleotide variant | NM_001370259.2(MEN1):c.546C>T (p.Ala182=) | Hereditary cancer-predisposing syndrome [RCV002349770] | likely benign | 11 | 64807999 | 64807999 | Human | 1 | name |
| 155702733 | CV1800565 | single nucleotide variant | NM_001370259.2(MEN1):c.576G>A (p.Gln192=) | Hereditary cancer-predisposing syndrome [RCV002359645] | likely benign | 11 | 64807969 | 64807969 | Human | 1 | name |
| 155673565 | CV1801374 | single nucleotide variant | NM_001370259.2(MEN1):c.633C>T (p.Val211=) | Hereditary cancer-predisposing syndrome [RCV002368922] | likely benign | 11 | 64807912 | 64807912 | Human | 1 | name |
| 155724585 | CV1804708 | single nucleotide variant | NM_001370259.2(MEN1):c.654G>T (p.Arg218=) | Hereditary cancer-predisposing syndrome [RCV002364364] | likely pathogenic | 11 | 64807891 | 64807891 | Human | 1 | name |
| 155738072 | CV1804997 | single nucleotide variant | NM_001370259.2(MEN1):c.456G>A (p.Leu152=) | Hereditary cancer-predisposing syndrome [RCV002342120] | likely benign | 11 | 64808089 | 64808089 | Human | 1 | name |
| 155737176 | CV1805335 | single nucleotide variant | NM_001370259.2(MEN1):c.47T>C (p.Ile16Thr) | Hereditary cancer-predisposing syndrome [RCV002330738]|Multiple endocrine neoplasia, type 1 [RCV003631245] | uncertain significance | 11 | 64810063 | 64810063 | Human | 2 | name |
| 155742687 | CV1806163 | single nucleotide variant | NM_001370259.2(MEN1):c.528C>T (p.Ala176=) | Hereditary cancer-predisposing syndrome [RCV002344505] | likely benign | 11 | 64808017 | 64808017 | Human | 1 | name |
| 155743491 | CV1806808 | single nucleotide variant | NM_001370259.2(MEN1):c.55G>A (p.Val19Met) | Hereditary cancer-predisposing syndrome [RCV002344889]|Multiple endocrine neoplasia, type 1 [RCV005096822] | uncertain significance | 11 | 64810055 | 64810055 | Human | 2 | name |
| 155672553 | CV1809169 | single nucleotide variant | NM_001370259.2(MEN1):c.495C>T (p.Cys165=) | Hereditary cancer-predisposing syndrome [RCV002351328]|Multiple endocrine neoplasia, type 1 [RCV005248625] | benign|likely benign | 11 | 64808050 | 64808050 | Human | 2 | name |
| 155734914 | CV1809693 | single nucleotide variant | NM_001370259.2(MEN1):c.522C>T (p.His174=) | Hereditary cancer-predisposing syndrome [RCV002340839]|Multiple endocrine neoplasia, type 1 [RCV005248627] | benign|likely benign | 11 | 64808023 | 64808023 | Human | 2 | name |
| 155704006 | CV1810613 | single nucleotide variant | NM_001370259.2(MEN1):c.579A>T (p.Thr193=) | Hereditary cancer-predisposing syndrome [RCV002359802]|Multiple endocrine neoplasia, type 1 [RCV003096876] | benign|likely benign | 11 | 64807966 | 64807966 | Human | 2 | name |
| 155710146 | CV1811593 | single nucleotide variant | NM_001370259.2(MEN1):c.639C>G (p.Ala213=) | Hereditary cancer-predisposing syndrome [RCV002361538] | likely benign | 11 | 64807906 | 64807906 | Human | 1 | name |
| 155698311 | CV1811969 | single nucleotide variant | NM_001370259.2(MEN1):c.661C>T (p.Leu221=) | Hereditary cancer-predisposing syndrome [RCV002375884] | likely benign | 11 | 64807674 | 64807674 | Human | 1 | name |
| 155715911 | CV1812418 | single nucleotide variant | NM_001370259.2(MEN1):c.693C>T (p.Asp231=) | Hereditary cancer-predisposing syndrome [RCV002362416]|Multiple endocrine neoplasia, type 1 [RCV003098423] | likely benign | 11 | 64807642 | 64807642 | Human | 2 | name |
| 155707679 | CV1812535 | single nucleotide variant | NM_001370259.2(MEN1):c.696C>A (p.Arg232=) | Hereditary cancer-predisposing syndrome [RCV002378165] | likely benign | 11 | 64807639 | 64807639 | Human | 1 | name |
| 155698354 | CV1813168 | single nucleotide variant | NM_001370259.2(MEN1):c.756C>T (p.Asp252=) | Hereditary cancer-predisposing syndrome [RCV002394067]|Multiple endocrine neoplasia, type 1 [RCV003103415] | benign|likely benign | 11 | 64807579 | 64807579 | Human | 2 | name |
| 155708884 | CV1814002 | single nucleotide variant | NM_001370259.2(MEN1):c.831C>T (p.Pro277=) | Hereditary cancer-predisposing syndrome [RCV002430420]|Multiple endocrine neoplasia, type 1 [RCV003631252] | benign|likely benign | 11 | 64807092 | 64807092 | Human | 2 | name |
| 155696739 | CV1816158 | single nucleotide variant | NM_001370259.2(MEN1):c.750C>T (p.His250=) | Hereditary cancer-predisposing syndrome [RCV002393751]|Multiple endocrine neoplasia, type 1 [RCV003631249] | benign|likely benign | 11 | 64807585 | 64807585 | Human | 2 | name |
| 155742163 | CV1816573 | single nucleotide variant | NM_001370259.2(MEN1):c.786G>A (p.Lys262=) | Hereditary cancer-predisposing syndrome [RCV002412271]|Multiple endocrine neoplasia, type 1 [RCV003099766] | benign|likely benign | 11 | 64807217 | 64807217 | Human | 2 | name |
| 155688045 | CV1817531 | single nucleotide variant | NM_001370259.2(MEN1):c.870G>A (p.Glu290=) | Hereditary cancer-predisposing syndrome [RCV002373447]|Multiple endocrine neoplasia, type 1 [RCV003776532] | benign|likely benign | 11 | 64807053 | 64807053 | Human | 2 | name |
| 155710794 | CV1817759 | single nucleotide variant | NM_001370259.2(MEN1):c.90G>C (p.Glu30Asp) | Hereditary cancer-predisposing syndrome [RCV002378639] | uncertain significance | 11 | 64810020 | 64810020 | Human | 1 | name |
| 155668394 | CV1818167 | single nucleotide variant | NM_001370259.2(MEN1):c.95C>G (p.Pro32Arg) | Hereditary cancer-predisposing syndrome [RCV002385283]|Multiple endocrine neoplasia, type 1 [RCV003094838] | likely pathogenic|uncertain significance | 11 | 64810015 | 64810015 | Human | 2 | name |
| 155668587 | CV1818207 | single nucleotide variant | NM_001370259.2(MEN1):c.960C>T (p.Pro320=) | Hereditary cancer-predisposing syndrome [RCV002385313] | likely benign | 11 | 64806321 | 64806321 | Human | 1 | name |
| 155672721 | CV1818493 | single nucleotide variant | NM_001370259.2(MEN1):c.969C>T (p.Tyr323=) | Hereditary cancer-predisposing syndrome [RCV002387007]|Multiple endocrine neoplasia, type 1 [RCV003094857] | likely benign | 11 | 64806312 | 64806312 | Human | 2 | name |
| 155667589 | CV1819722 | single nucleotide variant | NM_001370259.2(MEN1):c.745C>T (p.Leu249=) | Hereditary cancer-predisposing syndrome [RCV002385153] | likely benign | 11 | 64807590 | 64807590 | Human | 1 | name |
| 155700518 | CV1821091 | single nucleotide variant | NM_001370259.2(MEN1):c.900C>A (p.Thr300=) | Hereditary cancer-predisposing syndrome [RCV002376373] | likely benign | 11 | 64807023 | 64807023 | Human | 1 | name |
| 155728897 | CV1823416 | single nucleotide variant | NM_001370259.2(MEN1):c.769C>T (p.Leu257=) | Hereditary cancer-predisposing syndrome [RCV002400556]|Multiple endocrine neoplasia, type 1 [RCV003099718] | likely benign | 11 | 64807566 | 64807566 | Human | 2 | name |
| 155684377 | CV1824864 | single nucleotide variant | NM_001370259.2(MEN1):c.933C>T (p.Thr311=) | Hereditary cancer-predisposing syndrome [RCV002371662]|Multiple endocrine neoplasia, type 1 [RCV003100148] | benign|likely benign | 11 | 64806348 | 64806348 | Human | 2 | name |
| 155729073 | CV1828980 | single nucleotide variant | NM_001370259.2(MEN1):c.990C>G (p.Arg330=) | Hereditary cancer-predisposing syndrome [RCV002382788]|Multiple endocrine neoplasia, type 1 [RCV003631255] | benign|likely benign | 11 | 64806291 | 64806291 | Human | 2 | name |
| 156402453 | CV1889347 | single nucleotide variant | NM_001370259.2(MEN1):c.417C>T (p.His139=) | Multiple endocrine neoplasia, type 1 [RCV003069294] | benign|likely benign | 11 | 64809693 | 64809693 | Human | 1 | name |
| 156272714 | CV1899538 | single nucleotide variant | NM_001370259.2(MEN1):c.420C>T (p.Ile140=) | Multiple endocrine neoplasia, type 1 [RCV003086842] | benign|likely benign | 11 | 64809690 | 64809690 | Human | 1 | name |
| 156444652 | CV1948379 | single nucleotide variant | NM_001370259.2(MEN1):c.942G>A (p.Arg314=) | Multiple endocrine neoplasia, type 1 [RCV003115577] | likely benign | 11 | 64806339 | 64806339 | Human | 1 | name |
| 10056864 | CV197515 | single nucleotide variant | NM_130799.2(MEN1):c.1724T>A (p.Ile575Asn) | not provided [RCV000182427] | pathogenic | 11 | 64804443 | 64804443 | Human | | name |
| 10056892 | CV197560 | duplication | NM_001370259.2(MEN1):c.164dup (p.Thr56fs) | not provided [RCV000182458] | pathogenic | 11 | 64809945 | 64809946 | Human | | name |
| 10056869 | CV197561 | duplication | NM_001370259.2(MEN1):c.147dup (p.Val50fs) | not provided [RCV000182432] | pathogenic | 11 | 64809962 | 64809963 | Human | | name |
| 10056844 | CV197564 | single nucleotide variant | NM_001370259.2(MEN1):c.85C>T (p.Arg29Ter) | Hereditary cancer-predisposing syndrome [RCV000491222]|Multiple endocrine neoplasia, type 1 [RCV000474533] | pathogenic | 11 | 64810025 | 64810025 | Human | 2 | name |
| 10056843 | CV197568 | single nucleotide variant | NM_001370259.2(MEN1):c.35C>T (p.Pro12Leu) | Multiple endocrine neoplasia, type 1 [RCV000538512] | pathogenic|likely pathogenic | 11 | 64810075 | 64810075 | Human | 1 | name |
| 156287721 | CV2001836 | single nucleotide variant | NM_001370259.2(MEN1):c.306C>T (p.Asp102=) | Hereditary cancer-predisposing syndrome [RCV003308210]|Multiple endocrine neoplasia, type 1 [RCV002647073] | benign|likely benign | 11 | 64809804 | 64809804 | Human | 2 | name |
| 156048349 | CV2027136 | deletion | NM_001370259.2(MEN1):c.160del (p.Ile54fs) | Multiple endocrine neoplasia, type 1 [RCV002736426] | pathogenic | 11 | 64809950 | 64809950 | Human | 1 | name |
| 155939191 | CV2054801 | single nucleotide variant | NM_001370259.2(MEN1):c.459C>T (p.Asp153=) | Multiple endocrine neoplasia, type 1 [RCV002815574] | likely benign | 11 | 64808086 | 64808086 | Human | 1 | name |
| 156313008 | CV2063548 | single nucleotide variant | NM_001370259.2(MEN1):c.507T>G (p.Gly169=) | Multiple endocrine neoplasia, type 1 [RCV002834232] | likely benign | 11 | 64808038 | 64808038 | Human | 1 | name |
| 155969273 | CV2077104 | single nucleotide variant | NM_001370259.2(MEN1):c.927C>G (p.Ala309=) | Hereditary cancer-predisposing syndrome [RCV004064992]|Multiple endocrine neoplasia, type 1 [RCV002863235] | likely benign | 11 | 64806354 | 64806354 | Human | 2 | name |
| 156234968 | CV2081712 | single nucleotide variant | NM_001370259.2(MEN1):c.483G>A (p.Val161=) | Multiple endocrine neoplasia, type 1 [RCV002876382] | likely benign | 11 | 64808062 | 64808062 | Human | 1 | name |
| 155979982 | CV2082016 | single nucleotide variant | NM_001370259.2(MEN1):c.447C>T (p.Gly149=) | Multiple endocrine neoplasia, type 1 [RCV002863723] | likely benign | 11 | 64808098 | 64808098 | Human | 1 | name |
| 156063693 | CV2096373 | single nucleotide variant | NM_001370259.2(MEN1):c.885G>A (p.Arg295=) | Multiple endocrine neoplasia, type 1 [RCV002886590] | likely benign | 11 | 64807038 | 64807038 | Human | 1 | name |
| 156127515 | CV2100645 | deletion | NM_001370259.2(MEN1):c.195del (p.Ser66fs) | Multiple endocrine neoplasia, type 1 [RCV002889811] | pathogenic | 11 | 64809915 | 64809915 | Human | 1 | name |
| 156255917 | CV2117267 | single nucleotide variant | NM_001370259.2(MEN1):c.606C>A (p.Gly202=) | Multiple endocrine neoplasia, type 1 [RCV002933713] | likely benign | 11 | 64807939 | 64807939 | Human | 1 | name |
| 10407402 | CV212945 | single nucleotide variant | NM_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 significance | 11 | 64807573 | 64807573 | Human | 4 | name |
| 10407665 | CV212946 | single nucleotide variant | NM_001370259.2(MEN1):c.759G>T (p.Ser253=) | Hereditary cancer-predisposing syndrome [RCV000568935]|Multiple endocrine neoplasia, type 1 [RCV000199841] | likely benign | 11 | 64807576 | 64807576 | Human | 2 | name |
| 10407495 | CV212949 | single nucleotide variant | NM_001370259.2(MEN1):c.339C>T (p.Ser113=) | Hereditary cancer-predisposing syndrome [RCV000570477]|Multiple endocrine neoplasia, type 1 [RCV000197663] | benign|likely benign | 11 | 64809771 | 64809771 | Human | 2 | name |
| 11051485 | CV213769 | deletion | NM_001370259.2(MEN1):c.152del (p.Asn51fs) | Primary hyperparathyroidism [RCV000210355] | pathogenic | 11 | 64809958 | 64809958 | Human | 2 | name |
| 156163688 | CV2159107 | single nucleotide variant | NM_001370259.2(MEN1):c.99C>G (p.Asp33Glu) | Multiple endocrine neoplasia, type 1 [RCV003023285] | likely pathogenic|uncertain significance | 11 | 64810011 | 64810011 | Human | 1 | name |
| 155985993 | CV2159700 | single nucleotide variant | NM_001370259.2(MEN1):c.894A>C (p.Pro298=) | Multiple endocrine neoplasia, type 1 [RCV003034098] | benign|likely benign | 11 | 64807029 | 64807029 | Human | 1 | name |
| 156321061 | CV2166511 | deletion | NM_001370259.2(MEN1):c.241del (p.Ala81fs) | Multiple endocrine neoplasia, type 1 [RCV003029164] | pathogenic | 11 | 64809869 | 64809869 | Human | 1 | name |
| 156371917 | CV2174656 | single nucleotide variant | NM_001370259.2(MEN1):c.29T>C (p.Leu10Pro) | Multiple endocrine neoplasia, type 1 [RCV003049771] | uncertain significance | 11 | 64810081 | 64810081 | Human | 1 | name |
| 156331534 | CV2181086 | single nucleotide variant | NM_001370259.2(MEN1):c.825G>A (p.Arg275=) | Multiple endocrine neoplasia, type 1 [RCV003047246] | uncertain significance | 11 | 64807098 | 64807098 | Human | 1 | name |
| 10768334 | CV222162 | single nucleotide variant | NM_001370259.2(MEN1):c.621G>A (p.Arg207=) | Hereditary cancer-predisposing syndrome [RCV002363025]|Multiple endocrine neoplasia, type 1 [RCV001487021] | benign|likely benign | 11 | 64807924 | 64807924 | Human | 2 | name |
| 10767415 | CV222163 | single nucleotide variant | NM_001370259.2(MEN1):c.585G>A (p.Glu195=) | Hereditary cancer-predisposing syndrome [RCV004943772]|Multiple endocrine neoplasia, type 1 [RCV000204677] | likely benign | 11 | 64807960 | 64807960 | Human | 2 | name |
| 10767192 | CV222164 | single nucleotide variant | NM_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 benign | 11 | 64808032 | 64808032 | Human | 3 | name , alternate_id |
| 11346906 | CV241183 | single nucleotide variant | NM_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 benign | 11 | 64807014 | 64807014 | Human | 3 | name , alternate_id |
| 11348358 | CV241184 | single nucleotide variant | NM_001370259.2(MEN1):c.837C>T (p.Ala279=) | Hereditary cancer-predisposing syndrome [RCV001017650]|Multiple endocrine neoplasia, type 1 [RCV000226318] | benign|likely benign | 11 | 64807086 | 64807086 | Human | 2 | name |
| 11347511 | CV241185 | single nucleotide variant | NM_001370259.2(MEN1):c.819G>T (p.Leu273=) | Hereditary cancer-predisposing syndrome [RCV001027267]|Multiple endocrine neoplasia, type 1 [RCV000232403] | likely benign|conflicting interpretations of pathogenicity | 11 | 64807184 | 64807184 | Human | 2 | name |
| 11347320 | CV241188 | single nucleotide variant | NM_001370259.2(MEN1):c.759G>A (p.Ser253=) | Hereditary cancer-predisposing syndrome [RCV001026605]|Multiple endocrine neoplasia, type 1 [RCV000231807] | benign|likely benign | 11 | 64807576 | 64807576 | Human | 2 | name |
| 11346160 | CV241194 | single nucleotide variant | NM_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 benign | 11 | 64807906 | 64807906 | Human | 3 | name , alternate_id |
| 11345966 | CV241197 | single nucleotide variant | NM_001370259.2(MEN1):c.531G>A (p.Leu177=) | Hereditary cancer-predisposing syndrome [RCV000491307]|Multiple endocrine neoplasia, type 1 [RCV000226931]|not specified [RCV000254470] | benign|likely benign | 11 | 64808014 | 64808014 | Human | 2 | name |
| 11350041 | CV241198 | single nucleotide variant | NM_001370259.2(MEN1):c.471G>A (p.Val157=) | Hereditary cancer-predisposing syndrome [RCV000572540]|Multiple endocrine neoplasia, type 1 [RCV000233035] | benign|likely benign | 11 | 64808074 | 64808074 | Human | 2 | name |
| 11346916 | CV241199 | single nucleotide variant | NM_001370259.2(MEN1):c.441C>T (p.Ile147=) | Hereditary cancer-predisposing syndrome [RCV002327146]|Multiple endocrine neoplasia, type 1 [RCV000230248] | likely benign | 11 | 64809669 | 64809669 | Human | 2 | name |
| 329368520 | CV2426168 | single nucleotide variant | NM_001370259.2(MEN1):c.83G>A (p.Gly28Asp) | Hereditary cancer-predisposing syndrome [RCV003171361] | uncertain significance | 11 | 64810027 | 64810027 | Human | 1 | name |
| 329384620 | CV2426194 | single nucleotide variant | NM_001370259.2(MEN1):c.70G>A (p.Ala24Thr) | Hereditary cancer-predisposing syndrome [RCV003176788] | uncertain significance | 11 | 64810040 | 64810040 | Human | 1 | name |
| 401753779 | CV2716883 | single nucleotide variant | NM_001370259.2(MEN1):c.915C>T (p.Gly305=) | Hereditary cancer-predisposing syndrome [RCV003296298]|Multiple endocrine neoplasia, type 1 [RCV004009695] | benign|likely benign | 11 | 64806366 | 64806366 | Human | 2 | name |
| 401783912 | CV2720852 | single nucleotide variant | NM_001370259.2(MEN1):c.876C>A (p.Thr292=) | Hereditary cancer-predisposing syndrome [RCV003310059] | likely benign | 11 | 64807047 | 64807047 | Human | 1 | name |
| 401781019 | CV2734116 | single nucleotide variant | NM_001370259.2(MEN1):c.927C>T (p.Ala309=) | Hereditary cancer-predisposing syndrome [RCV003288353]|Multiple endocrine neoplasia, type 1 [RCV005249486] | benign|likely benign | 11 | 64806354 | 64806354 | Human | 2 | name |
| 401756557 | CV2734129 | single nucleotide variant | NM_001370259.2(MEN1):c.879T>G (p.Pro293=) | Hereditary cancer-predisposing syndrome [RCV003297345] | likely benign | 11 | 64807044 | 64807044 | Human | 1 | name |
| 401756558 | CV2734130 | single nucleotide variant | NM_001370259.2(MEN1):c.801C>A (p.Leu267=) | Hereditary cancer-predisposing syndrome [RCV003297346] | likely benign | 11 | 64807202 | 64807202 | Human | 1 | name |
| 401756565 | CV2734133 | single nucleotide variant | NM_001370259.2(MEN1):c.46A>C (p.Ile16Leu) | Hereditary cancer-predisposing syndrome [RCV003297349] | uncertain significance | 11 | 64810064 | 64810064 | Human | 1 | name |
| 401781045 | CV2734134 | single nucleotide variant | NM_001370259.2(MEN1):c.31T>G (p.Phe11Val) | Hereditary cancer-predisposing syndrome [RCV003288363] | uncertain significance | 11 | 64810079 | 64810079 | Human | 1 | name |
| 401781063 | CV2734142 | single nucleotide variant | NM_001370259.2(MEN1):c.432C>T (p.Phe144=) | Hereditary cancer-predisposing syndrome [RCV003288370] | likely benign | 11 | 64809678 | 64809678 | Human | 1 | name |
| 405041074 | CV2859962 | single nucleotide variant | NM_001370259.2(MEN1):c.531G>C (p.Leu177=) | Multiple endocrine neoplasia, type 1 [RCV003518021] | likely benign | 11 | 64808014 | 64808014 | Human | 1 | name |
| 405037269 | CV2861290 | single nucleotide variant | NM_001370259.2(MEN1):c.97G>C (p.Asp33His) | Multiple endocrine neoplasia, type 1 [RCV003517588] | likely pathogenic | 11 | 64810013 | 64810013 | Human | 1 | name |
| 405040223 | CV2865488 | single nucleotide variant | NM_001370259.2(MEN1):c.429C>A (p.Leu143=) | Multiple endocrine neoplasia, type 1 [RCV003517931] | likely benign | 11 | 64809681 | 64809681 | Human | 1 | name |
| 405041924 | CV2877366 | single nucleotide variant | NM_001370259.2(MEN1):c.429C>G (p.Leu143=) | Multiple endocrine neoplasia, type 1 [RCV003518075] | benign|likely benign | 11 | 64809681 | 64809681 | Human | 1 | name |
| 405047032 | CV2886175 | single nucleotide variant | NM_001370259.2(MEN1):c.97G>T (p.Asp33Tyr) | Hereditary cancer-predisposing syndrome [RCV004943087]|Multiple endocrine neoplasia, type 1 [RCV003518531] | likely pathogenic | 11 | 64810013 | 64810013 | Human | 2 | name |
| 405046894 | CV2888984 | single nucleotide variant | NM_001370259.2(MEN1):c.54C>A (p.Asp18Glu) | Multiple endocrine neoplasia, type 1 [RCV003518518] | uncertain significance | 11 | 64810056 | 64810056 | Human | 1 | name |
| 405030290 | CV2896885 | single nucleotide variant | NM_001370259.2(MEN1):c.603G>A (p.Lys201=) | Multiple endocrine neoplasia, type 1 [RCV003516761] | likely benign | 11 | 64807942 | 64807942 | Human | 1 | name |
| 405031600 | CV2912545 | single nucleotide variant | NM_001370259.2(MEN1):c.873C>T (p.Pro291=) | Multiple endocrine neoplasia, type 1 [RCV003516884] | benign|likely benign | 11 | 64807050 | 64807050 | Human | 1 | name |
| 405032922 | CV2920042 | single nucleotide variant | NM_001370259.2(MEN1):c.882C>T (p.Gly294=) | Multiple endocrine neoplasia, type 1 [RCV003516971] | likely benign | 11 | 64807041 | 64807041 | Human | 1 | name |
| 405034260 | CV2921559 | single nucleotide variant | NM_001370259.2(MEN1):c.64C>A (p.Leu22Met) | Multiple endocrine neoplasia, type 1 [RCV003517090] | likely pathogenic | 11 | 64810046 | 64810046 | Human | 1 | name |
| 405039924 | CV2923582 | single nucleotide variant | NM_001370259.2(MEN1):c.46A>T (p.Ile16Phe) | Multiple endocrine neoplasia, type 1 [RCV003517779] | uncertain significance | 11 | 64810064 | 64810064 | Human | 1 | name |
| 405038030 | CV2928699 | single nucleotide variant | NM_001370259.2(MEN1):c.519C>G (p.Val173=) | Multiple endocrine neoplasia, type 1 [RCV003517676] | likely benign | 11 | 64808026 | 64808026 | Human | 1 | name |
| 405038729 | CV2932467 | single nucleotide variant | NM_001370259.2(MEN1):c.59T>G (p.Val20Gly) | Multiple endocrine neoplasia, type 1 [RCV003517751] | uncertain significance | 11 | 64810051 | 64810051 | Human | 1 | name |
| 405052918 | CV2954443 | single nucleotide variant | NM_001370259.2(MEN1):c.498G>A (p.Gln166=) | Multiple endocrine neoplasia, type 1 [RCV003631494] | likely benign | 11 | 64808047 | 64808047 | Human | 1 | name |
| 405054005 | CV2964356 | single nucleotide variant | NM_001370259.2(MEN1):c.630A>G (p.Thr210=) | Multiple endocrine neoplasia, type 1 [RCV003631611] | likely benign | 11 | 64807915 | 64807915 | Human | 1 | name |
| 405053927 | CV2971430 | single nucleotide variant | NM_001370259.2(MEN1):c.883C>A (p.Arg295=) | Multiple endocrine neoplasia, type 1 [RCV003631605] | likely benign | 11 | 64807040 | 64807040 | Human | 1 | name |
| 405055099 | CV2980570 | single nucleotide variant | NM_001370259.2(MEN1):c.454T>C (p.Leu152=) | Multiple endocrine neoplasia, type 1 [RCV003631719] | likely benign | 11 | 64808091 | 64808091 | Human | 1 | name |
| 405055863 | CV2982492 | single nucleotide variant | NM_001370259.2(MEN1):c.654G>A (p.Arg218=) | Multiple endocrine neoplasia, type 1 [RCV003631791] | uncertain significance | 11 | 64807891 | 64807891 | Human | 1 | name |
| 405057368 | CV2995756 | single nucleotide variant | NM_001370259.2(MEN1):c.561G>A (p.Gly187=) | Multiple endocrine neoplasia, type 1 [RCV003631917] | likely benign | 11 | 64807984 | 64807984 | Human | 1 | name |
| 405057708 | CV2999680 | single nucleotide variant | NM_001370259.2(MEN1):c.41G>C (p.Arg14Pro) | Multiple endocrine neoplasia, type 1 [RCV003631946] | uncertain significance | 11 | 64810069 | 64810069 | Human | 1 | name |
| 405058415 | CV2999786 | deletion | NM_001370259.2(MEN1):c.1050-34_1050-14del | Multiple endocrine neoplasia, type 1 [RCV003631947] | conflicting interpretations of pathogenicity|uncertain significance | 11 | 64805784 | 64805804 | Human | 1 | name |
| 405059422 | CV3005851 | single nucleotide variant | NM_001370259.2(MEN1):c.759G>C (p.Ser253=) | Multiple endocrine neoplasia, type 1 [RCV003632080] | likely benign | 11 | 64807576 | 64807576 | Human | 1 | name |
| 405059150 | CV3012325 | single nucleotide variant | NM_001370259.2(MEN1):c.675A>T (p.Gly225=) | Multiple endocrine neoplasia, type 1 [RCV003632058] | conflicting interpretations of pathogenicity|uncertain significance | 11 | 64807660 | 64807660 | Human | 1 | name |
| 405060299 | CV3021697 | single nucleotide variant | NM_001370259.2(MEN1):c.510C>T (p.Leu170=) | Multiple endocrine neoplasia, type 1 [RCV003632186] | likely benign | 11 | 64808035 | 64808035 | Human | 1 | name |
| 405061568 | CV3031768 | single nucleotide variant | NM_001370259.2(MEN1):c.843G>A (p.Gly281=) | Hereditary cancer-predisposing syndrome [RCV004943192]|Multiple endocrine neoplasia, type 1 [RCV003632307] | likely benign | 11 | 64807080 | 64807080 | Human | 2 | name |
| 405063096 | CV3041130 | single nucleotide variant | NM_001370259.2(MEN1):c.720G>A (p.Val240=) | Multiple endocrine neoplasia, type 1 [RCV003632343] | benign|likely benign | 11 | 64807615 | 64807615 | Human | 1 | name |
| 405064656 | CV3057523 | single nucleotide variant | NM_001370259.2(MEN1):c.351G>A (p.Leu117=) | Multiple endocrine neoplasia, type 1 [RCV003632625] | benign|likely benign | 11 | 64809759 | 64809759 | Human | 1 | name |
| 405066819 | CV3072745 | single nucleotide variant | NM_001370259.2(MEN1):c.55G>C (p.Val19Leu) | Multiple endocrine neoplasia, type 1 [RCV003632772] | uncertain significance | 11 | 64810055 | 64810055 | Human | 1 | name |
| 405145356 | CV3122733 | single nucleotide variant | NM_001370259.2(MEN1):c.939T>C (p.Tyr313=) | Multiple endocrine neoplasia, type 1 [RCV003817155] | likely benign | 11 | 64806342 | 64806342 | Human | 1 | name |
| 402471513 | CV3171580 | single nucleotide variant | NM_001370259.2(MEN1):c.450C>T (p.Thr150=) | Hereditary cancer-predisposing syndrome [RCV005363303]|Multiple endocrine neoplasia, type 1 [RCV003874364] | benign|likely benign | 11 | 64808095 | 64808095 | Human | 2 | name |
| 8565749 | CV31716 | single nucleotide variant | NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg) | Multiple endocrine neoplasia, type 1 [RCV000018157]|not provided [RCV000182402] | pathogenic|likely pathogenic | 11 | 64810045 | 64810045 | Human | 1 | name |
| 8565759 | CV31728 | single nucleotide variant | NM_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|other | 11 | 64810034 | 64810034 | Human | 2 | name |
| 405741181 | CV3229180 | single nucleotide variant | NM_001370259.2(MEN1):c.41G>T (p.Arg14Leu) | Multiple endocrine neoplasia, type 1 [RCV004014923] | uncertain significance | 11 | 64810069 | 64810069 | Human | 1 | name |
| 405749174 | CV3233773 | single nucleotide variant | NM_001370259.2(MEN1):c.29T>A (p.Leu10Gln) | Multiple endocrine neoplasia, type 1 [RCV004016001] | uncertain significance | 11 | 64810081 | 64810081 | Human | 1 | name |
| 405746337 | CV3234783 | single nucleotide variant | NM_001370259.2(MEN1):c.441C>A (p.Ile147=) | Multiple endocrine neoplasia, type 1 [RCV004015657] | likely benign | 11 | 64809669 | 64809669 | Human | 1 | name |
| 11616911 | CV327399 | single nucleotide variant | NM_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 significance | 11 | 64810049 | 64810049 | Human | 4 | name |
| 405712616 | CV3382234 | single nucleotide variant | NM_001370259.2(MEN1):c.363C>G (p.Val121=) | Hereditary cancer-predisposing syndrome [RCV004522718]|Multiple endocrine neoplasia, type 1 [RCV005249681] | benign|likely benign | 11 | 64809747 | 64809747 | Human | 2 | name |
| 405712680 | CV3382242 | single nucleotide variant | NM_001370259.2(MEN1):c.53A>T (p.Asp18Val) | Hereditary cancer-predisposing syndrome [RCV004522726] | uncertain significance | 11 | 64810057 | 64810057 | Human | 1 | name |
| 405712693 | CV3382244 | single nucleotide variant | NM_001370259.2(MEN1):c.62G>T (p.Arg21Leu) | Hereditary cancer-predisposing syndrome [RCV004522728] | uncertain significance | 11 | 64810048 | 64810048 | Human | 1 | name |
| 405712725 | CV3382248 | single nucleotide variant | NM_001370259.2(MEN1):c.79C>A (p.Leu27Met) | Hereditary cancer-predisposing syndrome [RCV004522732] | uncertain significance | 11 | 64810031 | 64810031 | Human | 1 | name |
| 405713345 | CV3382251 | single nucleotide variant | NM_001370259.2(MEN1):c.888A>C (p.Pro296=) | Hereditary cancer-predisposing syndrome [RCV004522735] | likely benign | 11 | 64807035 | 64807035 | Human | 1 | name |
| 405712783 | CV3382255 | single nucleotide variant | NM_001370259.2(MEN1):c.940C>A (p.Arg314=) | Hereditary cancer-predisposing syndrome [RCV004522739] | likely benign | 11 | 64806341 | 64806341 | Human | 1 | name |
| 407502696 | CV3449849 | single nucleotide variant | NM_001370259.2(MEN1):c.768T>C (p.Leu256=) | Hereditary cancer-predisposing syndrome [RCV004645235] | likely benign | 11 | 64807567 | 64807567 | Human | 1 | name |
| 407502720 | CV3449859 | single nucleotide variant | NM_001370259.2(MEN1):c.855T>C (p.Asp285=) | Hereditary cancer-predisposing syndrome [RCV004645243] | likely benign | 11 | 64807068 | 64807068 | Human | 1 | name |
| 407502766 | CV3449876 | deletion | NM_001370259.2(MEN1):c.262del (p.Ala88fs) | Hereditary cancer-predisposing syndrome [RCV004645257] | pathogenic | 11 | 64809848 | 64809848 | Human | 1 | name |
| 407502786 | CV3449885 | single nucleotide variant | NM_001370259.2(MEN1):c.747G>A (p.Leu249=) | Hereditary cancer-predisposing syndrome [RCV004645264] | likely benign | 11 | 64807588 | 64807588 | Human | 1 | name |
| 596941297 | CV3546160 | single nucleotide variant | NM_001370259.2(MEN1):c.93G>C (p.Glu31Asp) | Multiple endocrine neoplasia, type 1 [RCV004806789] | uncertain significance | 11 | 64810017 | 64810017 | Human | 1 | name |
| 596941305 | CV3546162 | single nucleotide variant | NM_001370259.2(MEN1):c.41G>A (p.Arg14His) | Multiple endocrine neoplasia, type 1 [RCV004806791] | uncertain significance | 11 | 64810069 | 64810069 | Human | 1 | name |
| 596941309 | CV3546163 | single nucleotide variant | NM_001370259.2(MEN1):c.28C>G (p.Leu10Val) | Multiple endocrine neoplasia, type 1 [RCV004806792] | uncertain significance | 11 | 64810082 | 64810082 | Human | 1 | name |
| 596938341 | CV3550184 | duplication | NM_001370259.2(MEN1):c.253dup (p.Ile85fs) | Multiple endocrine neoplasia, type 1 [RCV004813486] | likely pathogenic | 11 | 64809856 | 64809857 | Human | 1 | name |
| 597649994 | CV3556605 | single nucleotide variant | NM_001370259.2(MEN1):c.62G>A (p.Arg21His) | Hereditary cancer-predisposing syndrome [RCV004943341]|Multiple endocrine neoplasia, type 1 [RCV005061473] | uncertain significance | 11 | 64810048 | 64810048 | Human | 2 | name |
| 597650354 | CV3556625 | deletion | NM_001370259.2(MEN1):c.292del (p.Arg98fs) | Hereditary cancer-predisposing syndrome [RCV004943360]|Multiple endocrine neoplasia, type 1 [RCV005363370] | pathogenic | 11 | 64809818 | 64809818 | Human | 2 | name |
| 597650317 | CV3556630 | single nucleotide variant | NM_001370259.2(MEN1):c.372C>T (p.Val124=) | Hereditary cancer-predisposing syndrome [RCV004943365] | likely benign | 11 | 64809738 | 64809738 | Human | 1 | name |
| 597650016 | CV3556633 | single nucleotide variant | NM_001370259.2(MEN1):c.819G>A (p.Leu273=) | Hereditary cancer-predisposing syndrome [RCV004943368]|Multiple endocrine neoplasia, type 1 [RCV005107492] | likely benign | 11 | 64807184 | 64807184 | Human | 2 | name |
| 597650052 | CV3556637 | single nucleotide variant | NM_001370259.2(MEN1):c.831C>A (p.Pro277=) | Hereditary cancer-predisposing syndrome [RCV004943372] | likely benign | 11 | 64807092 | 64807092 | Human | 1 | name |
| 597650079 | CV3556640 | single nucleotide variant | NM_001370259.2(MEN1):c.837C>A (p.Ala279=) | Hereditary cancer-predisposing syndrome [RCV004943375]|Multiple endocrine neoplasia, type 1 [RCV005107495] | likely benign | 11 | 64807086 | 64807086 | Human | 2 | name |
| 597648883 | CV3556641 | single nucleotide variant | NM_001370259.2(MEN1):c.753C>G (p.Thr251=) | Hereditary cancer-predisposing syndrome [RCV004943376]|not provided [RCV005000589] | likely benign|uncertain significance | 11 | 64807582 | 64807582 | Human | 1 | name |
| 597650098 | CV3556643 | single nucleotide variant | NM_001370259.2(MEN1):c.951C>T (p.His317=) | Hereditary cancer-predisposing syndrome [RCV004943378]|Multiple endocrine neoplasia, type 1 [RCV005107496] | likely benign | 11 | 64806330 | 64806330 | Human | 2 | name |
| 597650122 | CV3556646 | single nucleotide variant | NM_001370259.2(MEN1):c.309G>C (p.Leu103=) | Hereditary cancer-predisposing syndrome [RCV004943381] | likely benign | 11 | 64809801 | 64809801 | Human | 1 | name |
| 597650130 | CV3556647 | single nucleotide variant | NM_001370259.2(MEN1):c.813A>G (p.Gly271=) | Hereditary cancer-predisposing syndrome [RCV004943382] | likely benign | 11 | 64807190 | 64807190 | Human | 1 | name |
| 597650272 | CV3556665 | single nucleotide variant | NM_001370259.2(MEN1):c.816T>C (p.His272=) | Hereditary cancer-predisposing syndrome [RCV004943399] | likely benign | 11 | 64807187 | 64807187 | Human | 1 | name |
| 12742113 | CV359899 | deletion | NM_001370259.2(MEN1):c.207del (p.Asp70fs) | Multiple endocrine neoplasia, type 1 [RCV003517187]|not provided [RCV000412904] | pathogenic | 11 | 64809903 | 64809903 | Human | 1 | name |
| 597946137 | CV3755505 | single nucleotide variant | NM_001370259.2(MEN1):c.654G>C (p.Arg218=) | Multiple endocrine neoplasia, type 1 [RCV005078514] | uncertain significance | 11 | 64807891 | 64807891 | Human | 1 | name |
| 597864794 | CV3767100 | single nucleotide variant | NM_001370259.2(MEN1):c.33C>A (p.Phe11Leu) | Multiple endocrine neoplasia, type 1 [RCV005106622] | uncertain significance | 11 | 64810077 | 64810077 | Human | 1 | name |
| 597950633 | CV3768691 | single nucleotide variant | NM_001370259.2(MEN1):c.384C>T (p.Ser128=) | Multiple endocrine neoplasia, type 1 [RCV005120877] | likely benign | 11 | 64809726 | 64809726 | Human | 1 | name |
| 597901993 | CV3771447 | duplication | NM_001370259.2(MEN1):c.207dup (p.Asp70fs) | Multiple endocrine neoplasia, type 1 [RCV005112412] | pathogenic | 11 | 64809902 | 64809903 | Human | 1 | name |
| 597894343 | CV3785574 | single nucleotide variant | NM_001370259.2(MEN1):c.393C>A (p.Arg131=) | Multiple endocrine neoplasia, type 1 [RCV005126160] | likely benign | 11 | 64809717 | 64809717 | Human | 1 | name |
| 597972377 | CV3794193 | single nucleotide variant | NM_001370259.2(MEN1):c.477T>C (p.Phe159=) | Multiple endocrine neoplasia, type 1 [RCV005142559] | likely benign | 11 | 64808068 | 64808068 | Human | 1 | name |
| 597916924 | CV3841996 | single nucleotide variant | NM_001370259.2(MEN1):c.663G>A (p.Leu221=) | Hereditary cancer-predisposing syndrome [RCV005379799]|Multiple endocrine neoplasia, type 1 [RCV005183671] | likely benign | 11 | 64807672 | 64807672 | Human | 2 | name |
| 597915403 | CV3851242 | single nucleotide variant | NM_001370259.2(MEN1):c.636T>C (p.Asn212=) | Multiple endocrine neoplasia, type 1 [RCV005204210] | likely benign | 11 | 64807909 | 64807909 | Human | 1 | name |
| 598122531 | CV3884462 | single nucleotide variant | NM_001370259.2(MEN1):c.80T>C (p.Leu27Pro) | not specified [RCV005237154] | uncertain significance | 11 | 64810030 | 64810030 | Human | | name |
| 598121335 | CV3889359 | single nucleotide variant | NM_001370259.2(MEN1):c.327A>G (p.Glu109=) | Multiple endocrine neoplasia, type 1 [RCV005246468] | benign | 11 | 64809783 | 64809783 | Human | 1 | name |
| 598121380 | CV3889403 | single nucleotide variant | NM_001370259.2(MEN1):c.957C>T (p.Tyr319=) | Hereditary cancer-predisposing syndrome [RCV005379867]|Multiple endocrine neoplasia, type 1 [RCV005246512] | benign|likely benign | 11 | 64806324 | 64806324 | Human | 2 | name |
| 598121417 | CV3889440 | single nucleotide variant | NM_001370259.2(MEN1):c.372C>A (p.Val124=) | Multiple endocrine neoplasia, type 1 [RCV005246549] | benign | 11 | 64809738 | 64809738 | Human | 1 | name |
| 598121421 | CV3889444 | single nucleotide variant | NM_001370259.2(MEN1):c.726C>G (p.Ala242=) | Multiple endocrine neoplasia, type 1 [RCV005246553] | benign | 11 | 64807609 | 64807609 | Human | 1 | name |
| 598121424 | CV3889447 | indel | NM_001370259.2(MEN1):c.654+4_654+5delinsA | Multiple endocrine neoplasia, type 1 [RCV005246556] | likely benign | 11 | 64807886 | 64807887 | Human | | name |
| 598121439 | CV3889462 | single nucleotide variant | NM_001370259.2(MEN1):c.970C>T (p.Leu324=) | Multiple endocrine neoplasia, type 1 [RCV005246571] | benign | 11 | 64806311 | 64806311 | Human | 1 | name |
| 598121446 | CV3889469 | single nucleotide variant | NM_001370259.2(MEN1):c.333T>A (p.Gly111=) | Multiple endocrine neoplasia, type 1 [RCV005246578] | benign | 11 | 64809777 | 64809777 | Human | 1 | name |
| 598121565 | CV3889588 | single nucleotide variant | NM_001370259.2(MEN1):c.687C>G (p.Arg229=) | Multiple endocrine neoplasia, type 1 [RCV005247690] | benign | 11 | 64807648 | 64807648 | Human | 1 | name |
| 598121595 | CV3889618 | single nucleotide variant | NM_001370259.2(MEN1):c.831C>G (p.Pro277=) | Multiple endocrine neoplasia, type 1 [RCV005247720] | benign | 11 | 64807092 | 64807092 | Human | 1 | name |
| 598121613 | CV3889636 | single nucleotide variant | NM_001370259.2(MEN1):c.513G>A (p.Arg171=) | Multiple endocrine neoplasia, type 1 [RCV005247738] | benign | 11 | 64808032 | 64808032 | Human | 1 | name |
| 598121636 | CV3889659 | single nucleotide variant | NM_001370259.2(MEN1):c.330G>A (p.Gly110=) | Multiple endocrine neoplasia, type 1 [RCV005247761] | benign | 11 | 64809780 | 64809780 | Human | 1 | name |
| 12890132 | CV398291 | single nucleotide variant | NM_001370259.2(MEN1):c.921C>T (p.Ala307=) | Hereditary cancer-predisposing syndrome [RCV004943910]|Multiple endocrine neoplasia, type 1 [RCV000474055] | likely benign | 11 | 64806360 | 64806360 | Human | 2 | name |
| 12883376 | CV398294 | single nucleotide variant | NM_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 benign | 11 | 64807080 | 64807080 | Human | 3 | name , alternate_id |
| 12880755 | CV398300 | single nucleotide variant | NM_001370259.2(MEN1):c.828C>T (p.Tyr276=) | Hereditary cancer-predisposing syndrome [RCV000562412]|Multiple endocrine neoplasia, type 1 [RCV000456598] | benign|likely benign | 11 | 64807095 | 64807095 | Human | 2 | name |
| 12889950 | CV398322 | single nucleotide variant | NM_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 significance | 11 | 64807975 | 64807975 | Human | 4 | name |
| 12890702 | CV398324 | single nucleotide variant | NM_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 benign | 11 | 64808020 | 64808020 | Human | 2 | name |
| 12881536 | CV398330 | single nucleotide variant | NM_001370259.2(MEN1):c.426C>T (p.Ser142=) | Hereditary cancer-predisposing syndrome [RCV002329087]|Multiple endocrine neoplasia, type 1 [RCV000458015] | benign|likely benign | 11 | 64809684 | 64809684 | Human | 2 | name |
| 12881460 | CV398396 | single nucleotide variant | NM_001370259.2(MEN1):c.993C>T (p.Asn331=) | Hereditary cancer-predisposing syndrome [RCV000490867]|Multiple endocrine neoplasia, type 1 [RCV000457874] | benign|likely benign | 11 | 64806288 | 64806288 | Human | 2 | name |
| 12885552 | CV398401 | single nucleotide variant | NM_001370259.2(MEN1):c.711G>A (p.Ala237=) | Hereditary cancer-predisposing syndrome [RCV000562651]|Multiple endocrine neoplasia, type 1 [RCV000465578] | benign|likely benign | 11 | 64807624 | 64807624 | Human | 2 | name |
| 12885155 | CV398408 | single nucleotide variant | NM_001370259.2(MEN1):c.375A>T (p.Ile125=) | Hereditary cancer-predisposing syndrome [RCV001021065]|Multiple endocrine neoplasia, type 1 [RCV000464805]|not specified [RCV005239039] | benign|likely benign | 11 | 64809735 | 64809735 | Human | 2 | name |
| 12886874 | CV398413 | single nucleotide variant | NM_001370259.2(MEN1):c.330G>C (p.Gly110=) | Multiple endocrine neoplasia, type 1 [RCV001500044] | likely benign | 11 | 64809780 | 64809780 | Human | 1 | name |
| 598241584 | CV3985823 | single nucleotide variant | NM_001370259.2(MEN1):c.648T>A (p.Ala216=) | Hereditary cancer-predisposing syndrome [RCV005364839] | likely benign | 11 | 64807897 | 64807897 | Human | 1 | name |
| 598225760 | CV3985837 | single nucleotide variant | NM_001370259.2(MEN1):c.348G>A (p.Glu116=) | Hereditary cancer-predisposing syndrome [RCV005380460] | likely benign | 11 | 64809762 | 64809762 | Human | 1 | name |
| 12887438 | CV398733 | single nucleotide variant | NM_001370259.2(MEN1):c.999T>C (p.Asn333=) | Hereditary cancer-predisposing syndrome [RCV000563547]|Multiple endocrine neoplasia, type 1 [RCV000469063]|not specified [RCV002282163] | benign|likely benign | 11 | 64806282 | 64806282 | Human | 2 | name |
| 12891750 | CV398764 | single nucleotide variant | NM_001370259.2(MEN1):c.61C>G (p.Arg21Gly) | Multiple endocrine neoplasia, type 1 [RCV000477155] | uncertain significance | 11 | 64810049 | 64810049 | Human | 1 | name |
| 12886340 | CV398877 | single nucleotide variant | NM_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 significance | 11 | 64807582 | 64807582 | Human | 4 | name |
| 12892869 | CV398892 | deletion | NM_001370259.2(MEN1):c.168del (p.Asn57fs) | Multiple endocrine neoplasia, type 1 [RCV000460562]|not provided [RCV000486690] | pathogenic|likely pathogenic | 11 | 64809942 | 64809942 | Human | 1 | name |
| 12884703 | CV398893 | single nucleotide variant | NM_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 significance | 11 | 64810016 | 64810016 | Human | 2 | name |
| 12881769 | CV398894 | single nucleotide variant | NM_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 significance | 11 | 64810018 | 64810018 | Human | 2 | name |
| 12895485 | CV408414 | duplication | NM_001370259.2(MEN1):c.105dup (p.Leu36fs) | Multiple endocrine neoplasia, type 1 [RCV001851251]|not provided [RCV000486614] | pathogenic|likely pathogenic | 11 | 64810004 | 64810005 | Human | 1 | name |
| 12912110 | CV419838 | single nucleotide variant | NM_001370259.2(MEN1):c.600C>T (p.Gly200=) | Hereditary cancer-predisposing syndrome [RCV000490929] | uncertain significance | 11 | 64807945 | 64807945 | Human | 1 | name |
| 12912438 | CV419857 | deletion | NM_001370259.2(MEN1):c.265del (p.Leu89fs) | Hereditary cancer-predisposing syndrome [RCV000491674] | pathogenic | 11 | 64809845 | 64809845 | Human | 1 | name |
| 12912344 | CV419858 | deletion | NM_001370259.2(MEN1):c.237del (p.Val80fs) | Hereditary cancer-predisposing syndrome [RCV000491464]|Multiple endocrine neoplasia, type 1 [RCV000704558] | pathogenic | 11 | 64809873 | 64809873 | Human | 2 | name |
| 12912593 | CV419859 | deletion | NM_001370259.2(MEN1):c.223del (p.Leu75fs) | Hereditary cancer-predisposing syndrome [RCV000492040]|not provided [RCV005230958] | pathogenic | 11 | 64809887 | 64809887 | Human | 1 | name |
| 12912540 | CV419863 | single nucleotide variant | NM_001370259.2(MEN1):c.32T>C (p.Phe11Ser) | Hereditary cancer-predisposing syndrome [RCV000491909] | uncertain significance | 11 | 64810078 | 64810078 | Human | 1 | name |
| 8569652 | CV45190 | duplication | NM_001370259.2(MEN1):c.252dup (p.Ile85fs) | Multiple endocrine neoplasia, type 1 [RCV000030201] | pathogenic|likely pathogenic | 11 | 64809857 | 64809858 | Human | 1 | name |
| 8569655 | CV45193 | single nucleotide variant | NM_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 submitters | 11 | 64808053 | 64808053 | Human | 2 | name |
| 13473159 | CV461314 | single nucleotide variant | NM_001370259.2(MEN1):c.720G>T (p.Val240=) | Multiple endocrine neoplasia, type 1 [RCV000547687] | likely benign | 11 | 64807615 | 64807615 | Human | 1 | name |
| 13478920 | CV461327 | single nucleotide variant | NM_001370259.2(MEN1):c.303C>T (p.Val101=) | Hereditary cancer-predisposing syndrome [RCV002448631]|Multiple endocrine neoplasia, type 1 [RCV000550285] | benign|likely benign | 11 | 64809807 | 64809807 | Human | 2 | name |
| 13496781 | CV461484 | single nucleotide variant | NM_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 benign | 11 | 64809810 | 64809810 | Human | 2 | name |
| 13479915 | CV461810 | single nucleotide variant | NM_001370259.2(MEN1):c.978C>T (p.Gly326=) | Hereditary cancer-predisposing syndrome [RCV002384059]|Multiple endocrine neoplasia, type 1 [RCV000550736] | likely benign | 11 | 64806303 | 64806303 | Human | 2 | name |
| 13494463 | CV461843 | single nucleotide variant | NM_001370259.2(MEN1):c.729C>T (p.Ile243=) | Hereditary cancer-predisposing syndrome [RCV003159748]|Multiple endocrine neoplasia, type 1 [RCV000536420] | benign|likely benign | 11 | 64807606 | 64807606 | Human | 2 | name |
| 13476282 | CV462168 | single nucleotide variant | NM_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 significance | 11 | 64807067 | 64807067 | Human | 2 | name |
| 13479809 | CV462175 | single nucleotide variant | NM_001370259.2(MEN1):c.726C>T (p.Ala242=) | Hereditary cancer-predisposing syndrome [RCV002384058]|Multiple endocrine neoplasia, type 1 [RCV000528262] | benign|likely benign | 11 | 64807609 | 64807609 | Human | 2 | name |
| 13495453 | CV462178 | single nucleotide variant | NM_001370259.2(MEN1):c.618C>T (p.Arg206=) | Multiple endocrine neoplasia, type 1 [RCV000559647] | likely benign|uncertain significance | 11 | 64807927 | 64807927 | Human | 1 | name |
| 13498814 | CV462185 | single nucleotide variant | NM_001370259.2(MEN1):c.465C>T (p.Ser155=) | Hereditary cancer-predisposing syndrome [RCV001022861]|Multiple endocrine neoplasia, type 1 [RCV000539439] | benign|likely benign | 11 | 64808080 | 64808080 | Human | 2 | name |
| 13498075 | CV475979 | single nucleotide variant | NM_001370259.2(MEN1):c.516T>C (p.Asp172=) | Hereditary cancer-predisposing syndrome [RCV000573168]|Multiple endocrine neoplasia, type 1 [RCV000894832] | likely benign | 11 | 64808029 | 64808029 | Human | 2 | name |
| 13491651 | CV476481 | single nucleotide variant | NM_001370259.2(MEN1):c.609C>T (p.Asn203=) | Hereditary cancer-predisposing syndrome [RCV000570189]|Multiple endocrine neoplasia, type 1 [RCV000632152] | benign|likely benign | 11 | 64807936 | 64807936 | Human | 2 | name |
| 13614624 | CV526374 | single nucleotide variant | NM_001370259.2(MEN1):c.369T>C (p.Asp123=) | Multiple endocrine neoplasia, type 1 [RCV000632171] | likely benign | 11 | 64809741 | 64809741 | Human | 1 | name |
| 13614629 | CV526376 | single nucleotide variant | NM_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 benign | 11 | 64809765 | 64809765 | Human | 3 | name , alternate_id |
| 13614591 | CV526378 | single nucleotide variant | NM_001370259.2(MEN1):c.307C>T (p.Leu103=) | Hereditary cancer-predisposing syndrome [RCV002319543]|Multiple endocrine neoplasia, type 1 [RCV000632147] | likely benign | 11 | 64809803 | 64809803 | Human | 2 | name |
| 13614633 | CV526383 | single nucleotide variant | NM_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 significance | 11 | 64806318 | 64806318 | Human | 2 | name |
| 13614525 | CV526392 | single nucleotide variant | NM_001370259.2(MEN1):c.71C>T (p.Ala24Val) | Hereditary cancer-predisposing syndrome [RCV002377360]|Multiple endocrine neoplasia, type 1 [RCV000632091] | conflicting interpretations of pathogenicity|uncertain significance | 11 | 64810039 | 64810039 | Human | 2 | name |
| 13614626 | CV526403 | single nucleotide variant | NM_001370259.2(MEN1):c.375A>C (p.Ile125=) | Multiple endocrine neoplasia, type 1 [RCV000632172] | likely benign | 11 | 64809735 | 64809735 | Human | 1 | name |
| 13614519 | CV526427 | single nucleotide variant | NM_001370259.2(MEN1):c.92A>G (p.Glu31Gly) | Multiple endocrine neoplasia, type 1 [RCV000632084] | uncertain significance | 11 | 64810018 | 64810018 | Human | 1 | name |
| 13614627 | CV526668 | single nucleotide variant | NM_001370259.2(MEN1):c.333T>C (p.Gly111=) | Multiple endocrine neoplasia, type 1 [RCV000632173] | likely benign | 11 | 64809777 | 64809777 | Human | 1 | name |
| 13614561 | CV526681 | deletion | NM_001370259.2(MEN1):c.142del (p.Leu48fs) | Multiple endocrine neoplasia, type 1 [RCV000632124] | pathogenic | 11 | 64809968 | 64809968 | Human | 1 | name |
| 13614614 | CV526898 | single nucleotide variant | NM_001370259.2(MEN1):c.474C>T (p.Ala158=) | Hereditary cancer-predisposing syndrome [RCV002331118]|Multiple endocrine neoplasia, type 1 [RCV000632164] | benign|likely benign | 11 | 64808071 | 64808071 | Human | 2 | name |
| 13614563 | CV526919 | single nucleotide variant | NM_001370259.2(MEN1):c.49G>A (p.Asp17Asn) | Hereditary cancer-predisposing syndrome [RCV001023389]|Multiple endocrine neoplasia, type 1 [RCV000632125]|not provided [RCV005000402] | uncertain significance | 11 | 64810061 | 64810061 | Human | 2 | name |
| 13822546 | CV566003 | single nucleotide variant | NM_001370259.2(MEN1):c.801C>G (p.Leu267=) | Hereditary cancer-predisposing syndrome [RCV002422540]|Multiple endocrine neoplasia, type 1 [RCV000697467] | benign|likely benign|uncertain significance | 11 | 64807202 | 64807202 | Human | 2 | name |
| 13817680 | CV566040 | single nucleotide variant | NM_001370259.2(MEN1):c.74C>T (p.Ala25Val) | Multiple endocrine neoplasia, type 1 [RCV000707173]|not provided [RCV004997217] | uncertain significance | 11 | 64810036 | 64810036 | Human | 1 | name |
| 13820172 | CV567449 | single nucleotide variant | NM_001370259.2(MEN1):c.38T>G (p.Leu13Arg) | Hereditary cancer-predisposing syndrome [RCV005367511]|Multiple endocrine neoplasia, type 1 [RCV000694774] | likely pathogenic|uncertain significance | 11 | 64810072 | 64810072 | Human | 2 | name |
| 14708187 | CV640281 | single nucleotide variant | NM_001370259.2(MEN1):c.972G>A (p.Leu324=) | Multiple endocrine neoplasia, type 1 [RCV000809013] | likely benign|uncertain significance | 11 | 64806309 | 64806309 | Human | 1 | name |
| 14721186 | CV640296 | single nucleotide variant | NM_001370259.2(MEN1):c.696C>T (p.Arg232=) | Hereditary cancer-predisposing syndrome [RCV003166322]|Multiple endocrine neoplasia, type 1 [RCV000813377] | benign|likely benign|uncertain significance | 11 | 64807639 | 64807639 | Human | 2 | name |
| 14731683 | CV640305 | single nucleotide variant | NM_001370259.2(MEN1):c.366C>T (p.Ser122=) | Hereditary cancer-predisposing syndrome [RCV002453865]|Multiple endocrine neoplasia, type 1 [RCV000817967] | benign|likely benign|uncertain significance | 11 | 64809744 | 64809744 | Human | 2 | name |
| 14721889 | CV640317 | single nucleotide variant | NM_001370259.2(MEN1):c.40C>T (p.Arg14Cys) | Hereditary cancer-predisposing syndrome [RCV002325521]|Multiple endocrine neoplasia, type 1 [RCV000797298] | uncertain significance | 11 | 64810070 | 64810070 | Human | 2 | name |
| 14735425 | CV640318 | single nucleotide variant | NM_001370259.2(MEN1):c.38T>C (p.Leu13Pro) | Multiple endocrine neoplasia, type 1 [RCV000803145] | uncertain significance | 11 | 64810072 | 64810072 | Human | 1 | name |
| 15141492 | CV687806 | single nucleotide variant | NM_001370259.2(MEN1):c.981C>T (p.Tyr327=) | Hereditary cancer-predisposing syndrome [RCV002372421]|Multiple endocrine neoplasia, type 1 [RCV000865369] | likely benign | 11 | 64806300 | 64806300 | Human | 2 | name |
| 15101840 | CV687807 | single nucleotide variant | NM_001370259.2(MEN1):c.642T>C (p.Gly214=) | Hereditary cancer-predisposing syndrome [RCV002363263]|Multiple endocrine neoplasia, type 1 [RCV001479044] | benign|likely benign | 11 | 64807903 | 64807903 | Human | 2 | name |
| 15200851 | CV724572 | single nucleotide variant | NM_001370259.2(MEN1):c.760C>T (p.Leu254=) | Hereditary cancer-predisposing syndrome [RCV001026620]|Multiple endocrine neoplasia, type 1 [RCV000891026] | benign|likely benign | 11 | 64807575 | 64807575 | Human | 2 | name |
| 15156282 | CV752780 | single nucleotide variant | NM_001370259.2(MEN1):c.861G>A (p.Glu287=) | Hereditary cancer-predisposing syndrome [RCV002445030]|Multiple endocrine neoplasia, type 1 [RCV000924640] | benign|likely benign | 11 | 64807062 | 64807062 | Human | 2 | name |
| 15159558 | CV752781 | single nucleotide variant | NM_001370259.2(MEN1):c.639C>A (p.Ala213=) | Multiple endocrine neoplasia, type 1 [RCV001399750] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 64807906 | 64807906 | Human | 1 | name |
| 15158369 | CV752782 | single nucleotide variant | NM_001370259.2(MEN1):c.336C>G (p.Val112=) | Hereditary cancer-predisposing syndrome [RCV001020110]|Multiple endocrine neoplasia, type 1 [RCV000925056] | benign|likely benign | 11 | 64809774 | 64809774 | Human | 2 | name |
| 15109661 | CV768571 | single nucleotide variant | NM_001370259.2(MEN1):c.984C>T (p.His328=) | Multiple endocrine neoplasia, type 1 [RCV000938389] | benign|likely benign | 11 | 64806297 | 64806297 | Human | 1 | name |
| 15143898 | CV768572 | single nucleotide variant | NM_001370259.2(MEN1):c.906C>T (p.Tyr302=) | Multiple endocrine neoplasia, type 1 [RCV001398447] | likely benign | 11 | 64807017 | 64807017 | Human | 1 | name |
| 15190819 | CV768573 | single nucleotide variant | NM_001370259.2(MEN1):c.903C>T (p.Leu301=) | Hereditary cancer-predisposing syndrome [RCV002372597]|Multiple endocrine neoplasia, type 1 [RCV001466277] | likely benign|conflicting interpretations of pathogenicity | 11 | 64807020 | 64807020 | Human | 2 | name |
| 15116363 | CV768574 | single nucleotide variant | NM_001370259.2(MEN1):c.900C>T (p.Thr300=) | Hereditary cancer-predisposing syndrome [RCV002372618]|Multiple endocrine neoplasia, type 1 [RCV001489746] | likely benign | 11 | 64807023 | 64807023 | Human | 2 | name |
| 15123211 | CV768575 | single nucleotide variant | NM_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 significance | 11 | 64807026 | 64807026 | Human | 2 | name |
| 15172725 | CV768576 | single nucleotide variant | NM_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 benign | 11 | 64807195 | 64807195 | Human | 3 | name , alternate_id |
| 15191377 | CV768577 | single nucleotide variant | NM_001370259.2(MEN1):c.741T>C (p.Ile247=) | Multiple endocrine neoplasia, type 1 [RCV001460060] | likely benign | 11 | 64807594 | 64807594 | Human | 1 | name |
| 15115546 | CV768578 | single nucleotide variant | NM_001370259.2(MEN1):c.630A>C (p.Thr210=) | Multiple endocrine neoplasia, type 1 [RCV001505443] | likely benign | 11 | 64807915 | 64807915 | Human | 1 | name |
| 15194839 | CV768579 | single nucleotide variant | NM_001370259.2(MEN1):c.588C>T (p.Val196=) | Hereditary cancer-predisposing syndrome [RCV004639414]|Multiple endocrine neoplasia, type 1 [RCV001431451] | benign|likely benign | 11 | 64807957 | 64807957 | Human | 2 | name |
| 15102292 | CV768580 | single nucleotide variant | NM_001370259.2(MEN1):c.582T>G (p.Ala194=) | Multiple endocrine neoplasia, type 1 [RCV001403320] | likely benign | 11 | 64807963 | 64807963 | Human | 1 | name |
| 15190093 | CV768581 | single nucleotide variant | NM_001370259.2(MEN1):c.411G>C (p.Arg137=) | Hereditary cancer-predisposing syndrome [RCV002320115]|Multiple endocrine neoplasia, type 1 [RCV001414060] | benign|likely benign | 11 | 64809699 | 64809699 | Human | 2 | name |
| 15202675 | CV768582 | single nucleotide variant | NM_001370259.2(MEN1):c.390C>T (p.Ser130=) | Hereditary cancer-predisposing syndrome [RCV001021418]|Multiple endocrine neoplasia, type 1 [RCV001462657] | benign|likely benign | 11 | 64809720 | 64809720 | Human | 2 | name |
| 15195219 | CV768583 | single nucleotide variant | NM_001370259.2(MEN1):c.312C>T (p.Ser104=) | Multiple endocrine neoplasia, type 1 [RCV000933874] | likely benign | 11 | 64809798 | 64809798 | Human | 1 | name |
| 15119377 | CV784074 | single nucleotide variant | NM_001370259.2(MEN1):c.960C>G (p.Pro320=) | Multiple endocrine neoplasia, type 1 [RCV001410508] | likely benign | 11 | 64806321 | 64806321 | Human | 1 | name |
| 15114425 | CV784075 | single nucleotide variant | NM_001370259.2(MEN1):c.667C>T (p.Leu223=) | Multiple endocrine neoplasia, type 1 [RCV001431499] | likely benign | 11 | 64807668 | 64807668 | Human | 1 | name |
| 15108315 | CV784076 | single nucleotide variant | NM_001370259.2(MEN1):c.502C>T (p.Leu168=) | Hereditary cancer-predisposing syndrome [RCV003380795]|Multiple endocrine neoplasia, type 1 [RCV001479658] | likely benign | 11 | 64808043 | 64808043 | Human | 2 | name |
| 21405671 | CV799657 | single nucleotide variant | NM_001370259.2(MEN1):c.912G>A (p.Lys304=) | Hereditary cancer-predisposing syndrome [RCV001018904]|Multiple endocrine neoplasia, type 1 [RCV001000963] | likely pathogenic|uncertain significance | 11 | 64807011 | 64807011 | Human | 2 | name |
| 25315236 | CV810814 | single nucleotide variant | NM_001370259.2(MEN1):c.945T>C (p.Asp315=) | Hereditary cancer-predisposing syndrome [RCV001019372] | likely benign | 11 | 64806336 | 64806336 | Human | 1 | name |
| 25329566 | CV810820 | single nucleotide variant | NM_001370259.2(MEN1):c.849G>A (p.Leu283=) | Hereditary cancer-predisposing syndrome [RCV001017915]|Multiple endocrine neoplasia, type 1 [RCV001413430] | benign|likely benign | 11 | 64807074 | 64807074 | Human | 2 | name |
| 25318137 | CV810834 | single nucleotide variant | NM_001370259.2(MEN1):c.399C>T (p.Tyr133=) | Hereditary cancer-predisposing syndrome [RCV001021611]|Multiple endocrine neoplasia, type 1 [RCV001442297] | likely benign | 11 | 64809711 | 64809711 | Human | 2 | name |
| 25318072 | CV810835 | single nucleotide variant | NM_001370259.2(MEN1):c.396C>T (p.Ser132=) | Hereditary cancer-predisposing syndrome [RCV001021551]|Multiple endocrine neoplasia, type 1 [RCV001465314] | benign|likely benign | 11 | 64809714 | 64809714 | Human | 2 | name |
| 25330074 | CV810837 | single nucleotide variant | NM_001370259.2(MEN1):c.315C>G (p.Leu105=) | Hereditary cancer-predisposing syndrome [RCV001018866]|Multiple endocrine neoplasia, type 1 [RCV001504047] | benign|likely benign | 11 | 64809795 | 64809795 | Human | 2 | name |
| 25320048 | CV810846 | single nucleotide variant | NM_001370259.2(MEN1):c.44C>G (p.Ser15Cys) | Hereditary cancer-predisposing syndrome [RCV001022586]|Multiple endocrine neoplasia, type 1 [RCV003467666] | uncertain significance | 11 | 64810066 | 64810066 | Human | 2 | name |
| 26914310 | CV838750 | single nucleotide variant | NM_001370259.2(MEN1):c.82G>A (p.Gly28Ser) | Hereditary cancer-predisposing syndrome [RCV003160439]|Multiple endocrine neoplasia, type 1 [RCV001054889] | uncertain significance | 11 | 64810028 | 64810028 | Human | 2 | name |
| 26913123 | CV838751 | single nucleotide variant | NM_001370259.2(MEN1):c.79C>G (p.Leu27Val) | Multiple endocrine neoplasia, type 1 [RCV001039845] | uncertain significance | 11 | 64810031 | 64810031 | Human | 1 | name |
| 26914492 | CV838752 | single nucleotide variant | NM_001370259.2(MEN1):c.65T>C (p.Leu22Pro) | Multiple endocrine neoplasia, type 1 [RCV001055011] | uncertain significance | 11 | 64810045 | 64810045 | Human | 1 | name |
| 26885415 | CV838753 | single nucleotide variant | NM_001370259.2(MEN1):c.44C>T (p.Ser15Phe) | Hereditary cancer-predisposing syndrome [RCV004031322]|Multiple endocrine neoplasia, type 1 [RCV001043539] | uncertain significance | 11 | 64810066 | 64810066 | Human | 2 | name |
| 28899489 | CV868262 | single nucleotide variant | NM_001370259.2(MEN1):c.849G>T (p.Leu283=) | Hyperparathyroidism [RCV001103404]|Multiple endocrine neoplasia, type 1 [RCV001103403] | conflicting interpretations of pathogenicity|uncertain significance | 11 | 64807074 | 64807074 | Human | 3 | name |
| 38477330 | CV926336 | single nucleotide variant | NM_001370259.2(MEN1):c.409C>A (p.Arg137=) | Hereditary cancer-predisposing syndrome [RCV002322049]|Multiple endocrine neoplasia, type 1 [RCV001216091] | benign|likely benign|uncertain significance | 11 | 64809701 | 64809701 | Human | 2 | name |
| 38493514 | CV926341 | single nucleotide variant | NM_001370259.2(MEN1):c.50A>G (p.Asp17Gly) | Hereditary cancer-predisposing syndrome [RCV003380903]|Multiple endocrine neoplasia, type 1 [RCV001224295]|not provided [RCV004774322] | uncertain significance | 11 | 64810060 | 64810060 | Human | 2 | name |
| 38484106 | CV935685 | single nucleotide variant | NM_001370259.2(MEN1):c.58G>T (p.Val20Leu) | Multiple endocrine neoplasia, type 1 [RCV001207909] | uncertain significance | 11 | 64810052 | 64810052 | Human | 1 | name |
| 38489154 | CV947579 | single nucleotide variant | NM_001370259.2(MEN1):c.91G>A (p.Glu31Lys) | Hereditary cancer-predisposing syndrome [RCV004034574]|Multiple endocrine neoplasia, type 1 [RCV001238297] | uncertain significance | 11 | 64810019 | 64810019 | Human | 2 | name |
| 38498063 | CV947580 | single nucleotide variant | NM_001370259.2(MEN1):c.29T>G (p.Leu10Arg) | Hereditary cancer-predisposing syndrome [RCV003294087]|Multiple endocrine neoplasia, type 1 [RCV001227378] | uncertain significance | 11 | 64810081 | 64810081 | Human | 2 | name |
| 40903746 | CV976353 | duplication | NM_001370259.2(MEN1):c.186dup (p.Phe63fs) | not provided [RCV001269516] | pathogenic | 11 | 64809923 | 64809924 | Human | | name |
| 126731516 | CV994650 | single nucleotide variant | NM_001370259.2(MEN1):c.89A>G (p.Glu30Gly) | Hereditary cancer-predisposing syndrome [RCV002375337]|Multiple endocrine neoplasia, type 1 [RCV001294396] | likely benign|uncertain significance | 11 | 64810021 | 64810021 | Human | 2 | name |
| 126729814 | CV994651 | single nucleotide variant | NM_001370259.2(MEN1):c.85C>G (p.Arg29Gly) | Hereditary cancer-predisposing syndrome [RCV002447301]|Multiple endocrine neoplasia, type 1 [RCV001303630] | uncertain significance | 11 | 64810025 | 64810025 | Human | 2 | name |
| 126767642 | CV994652 | single nucleotide variant | NM_001370259.2(MEN1):c.61C>T (p.Arg21Cys) | Hereditary cancer-predisposing syndrome [RCV004036236]|Multiple endocrine neoplasia, type 1 [RCV001302367] | uncertain significance | 11 | 64810049 | 64810049 | Human | 2 | name |
| 126759314 | CV1009816 | single nucleotide variant | NM_001370259.2(MEN1):c.1569T>A (p.Ala523=) | Multiple endocrine neoplasia, type 1 [RCV001318030] | likely benign|uncertain significance | 11 | 64804598 | 64804598 | Human | 1 | name |
| 126760284 | CV1030394 | single nucleotide variant | NM_001370259.2(MEN1):c.154C>G (p.Arg52Gly) | Multiple endocrine neoplasia, type 1 [RCV001340367] | likely pathogenic|uncertain significance | 11 | 64809956 | 64809956 | Human | 1 | name |
| 126911491 | CV1047362 | single nucleotide variant | NM_001370259.2(MEN1):c.1350G>A (p.Gln450=) | Multiple endocrine neoplasia, type 1 [RCV001369238] | uncertain significance | 11 | 64805034 | 64805034 | Human | 1 | name |
| 126917504 | CV1047378 | single nucleotide variant | NM_001370259.2(MEN1):c.248T>C (p.Leu83Pro) | Hereditary cancer-predisposing syndrome [RCV003169798]|Multiple endocrine neoplasia, type 1 [RCV001361208] | likely benign|uncertain significance | 11 | 64809862 | 64809862 | Human | 2 | name |
| 126922613 | CV1047379 | single nucleotide variant | NM_001370259.2(MEN1):c.196A>C (p.Ser66Arg) | Hereditary cancer-predisposing syndrome [RCV003298585]|Multiple endocrine neoplasia, type 1 [RCV001364873] | uncertain significance | 11 | 64809914 | 64809914 | Human | 2 | name |
| 127242117 | CV1078477 | single nucleotide variant | NM_001370259.2(MEN1):c.1476C>T (p.Pro492=) | Hereditary cancer-predisposing syndrome [RCV004641639]|Multiple endocrine neoplasia, type 1 [RCV001415917] | likely benign | 11 | 64804691 | 64804691 | Human | 2 | name |
| 127243193 | CV1100213 | single nucleotide variant | NM_001370259.2(MEN1):c.1794C>T (p.Tyr598=) | Multiple endocrine neoplasia, type 1 [RCV001434778] | benign|likely benign | 11 | 64804373 | 64804373 | Human | 1 | name |
| 10056888 | CV197533 | single nucleotide variant | NM_001370259.2(MEN1):c.1158C>T (p.Gly386=) | Hereditary cancer-predisposing syndrome [RCV001010040]|Multiple endocrine neoplasia, type 1 [RCV000457527] | uncertain significance | 11 | 64805662 | 64805662 | Human | 2 | name |
| 10056870 | CV197559 | deletion | NM_001370259.2(MEN1):c.307del (p.Leu103fs) | Hereditary cancer-predisposing syndrome [RCV000491671]|Multiple endocrine neoplasia, type 1 [RCV000018159]|not provided [RCV000182435] | pathogenic | 11 | 64809803 | 64809803 | Human | 2 | name |
| 10056845 | CV197562 | single nucleotide variant | NM_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 significance | 11 | 64809997 | 64809997 | Human | 2 | name |
| 10407623 | CV212930 | single nucleotide variant | NM_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 significance | 11 | 64804403 | 64804403 | Human | 5 | name , alternate_id |
| 10407405 | CV212932 | single nucleotide variant | NM_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 benign | 11 | 64804529 | 64804529 | Human | 2 | name |
| 10407669 | CV212940 | single nucleotide variant | NM_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 pathogenicity | 11 | 64805650 | 64805650 | Human | 2 | name |
| 10407552 | CV212941 | single nucleotide variant | NM_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 significance | 11 | 64805665 | 64805665 | Human | 2 | name |
| 10407685 | CV212943 | single nucleotide variant | NM_001370259.2(MEN1):c.1063C>A (p.Arg355=) | Multiple endocrine neoplasia, type 1 [RCV000200097] | uncertain significance | 11 | 64805757 | 64805757 | Human | 1 | name |
| 10767950 | CV222153 | single nucleotide variant | NM_001370259.2(MEN1):c.1578C>A (p.Ala526=) | Hereditary cancer-predisposing syndrome [RCV002256119]|Multiple endocrine neoplasia, type 1 [RCV000205589] | benign|likely benign | 11 | 64804589 | 64804589 | Human | 2 | name |
| 10766874 | CV222154 | single nucleotide variant | NM_001370259.2(MEN1):c.1443G>A (p.Arg481=) | Multiple endocrine neoplasia, type 1 [RCV001431309] | likely benign | 11 | 64804724 | 64804724 | Human | 1 | name |
| 10766991 | CV222159 | single nucleotide variant | NM_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 benign | 11 | 64805740 | 64805740 | Human | 3 | name , alternate_id |
| 11348468 | CV241167 | single nucleotide variant | NM_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 pathogenicity | 11 | 64804472 | 64804472 | Human | 2 | name |
| 11348833 | CV241170 | single nucleotide variant | NM_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 benign | 11 | 64804649 | 64804649 | Human | 3 | name , alternate_id |
| 11348076 | CV241171 | single nucleotide variant | NM_001370259.2(MEN1):c.1434C>T (p.Gly478=) | Hereditary cancer-predisposing syndrome [RCV000570713]|Multiple endocrine neoplasia, type 1 [RCV000234303] | benign|conflicting interpretations of pathogenicity | 11 | 64804733 | 64804733 | Human | 2 | name |
| 11349411 | CV241172 | single nucleotide variant | NM_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 benign | 11 | 64804766 | 64804766 | Human | 3 | name , alternate_id |
| 11348655 | CV241173 | single nucleotide variant | NM_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 benign | 11 | 64804775 | 64804775 | Human | 3 | name , alternate_id |
| 11347908 | CV241174 | single nucleotide variant | NM_001370259.2(MEN1):c.1386C>G (p.Ala462=) | Hereditary cancer-predisposing syndrome [RCV002392719]|Multiple endocrine neoplasia, type 1 [RCV001456315] | benign|likely benign | 11 | 64804781 | 64804781 | Human | 2 | name |
| 11350022 | CV241177 | single nucleotide variant | NM_001370259.2(MEN1):c.1287G>T (p.Thr429=) | Hereditary cancer-predisposing syndrome [RCV002379027]|Multiple endocrine neoplasia, type 1 [RCV000232959] | benign|likely benign | 11 | 64805097 | 64805097 | Human | 2 | name |
| 11348599 | CV241178 | single nucleotide variant | NM_001370259.2(MEN1):c.1230C>T (p.Phe410=) | Hereditary cancer-predisposing syndrome [RCV000566957]|Multiple endocrine neoplasia, type 1 [RCV000227264] | benign|likely benign | 11 | 64805154 | 64805154 | Human | 2 | name |
| 11347839 | CV241179 | single nucleotide variant | NM_001370259.2(MEN1):c.1203T>C (p.Gly401=) | Hereditary cancer-predisposing syndrome [RCV003165649]|Multiple endocrine neoplasia, type 1 [RCV000233483] | benign|likely benign | 11 | 64805181 | 64805181 | Human | 2 | name |
| 11347621 | CV241182 | single nucleotide variant | NM_001370259.2(MEN1):c.1026G>A (p.Ala342=) | Hereditary cancer-predisposing syndrome [RCV000573264]|Multiple endocrine neoplasia, type 1 [RCV000232744]|not provided [RCV003401187] | benign|likely benign | 11 | 64806255 | 64806255 | Human | 2 | name |
| 11347589 | CV241195 | deletion | NM_001370259.2(MEN1):c.633del (p.Asn212fs) | Multiple endocrine neoplasia, type 1 [RCV000232633] | pathogenic | 11 | 64807912 | 64807912 | Human | 1 | name |
| 11346720 | CV241202 | deletion | NM_001370259.2(MEN1):c.323del (p.Arg108fs) | Multiple endocrine neoplasia, type 1 [RCV000229514] | pathogenic | 11 | 64809787 | 64809787 | Human | 1 | name |
| 11349300 | CV241203 | single nucleotide variant | NM_001370259.2(MEN1):c.100C>A (p.Leu34Met) | Hereditary cancer-predisposing syndrome [RCV000492008]|Multiple endocrine neoplasia, type 1 [RCV000229989] | uncertain significance | 11 | 64810010 | 64810010 | Human | 2 | name |
| 11546703 | CV254243 | single nucleotide variant | NM_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 significance | 11 | 64806278 | 64806278 | Human | 4 | name |
| 11559990 | CV260001 | single nucleotide variant | NM_001370259.2(MEN1):c.292C>T (p.Arg98Ter) | Hereditary cancer-predisposing syndrome [RCV002436089]|Multiple endocrine neoplasia, type 1 [RCV001244528]|not provided [RCV000255438] | pathogenic | 11 | 64809818 | 64809818 | Human | 2 | name |
| 11558150 | CV260002 | single nucleotide variant | NM_001370259.2(MEN1):c.227C>A (p.Thr76Asn) | Multiple endocrine neoplasia, type 1 [RCV001246047]|not provided [RCV000255896] | uncertain significance | 11 | 64809883 | 64809883 | Human | 1 | name |
| 11633048 | CV264443 | duplication | NM_001370259.2(MEN1):c.340dup (p.Ser114fs) | Hereditary cancer-predisposing syndrome [RCV000490981]|Multiple endocrine neoplasia, type 1 [RCV001046917]|not provided [RCV000309108] | pathogenic | 11 | 64809769 | 64809770 | Human | 2 | name |
| 126754619 | CV994634 | single nucleotide variant | NM_001370259.2(MEN1):c.1344G>A (p.Glu448=) | Hereditary cancer-predisposing syndrome [RCV002379999]|Multiple endocrine neoplasia, type 1 [RCV001298168] | benign|likely benign|uncertain significance | 11 | 64805040 | 64805040 | Human | 2 | name |
| 126761380 | CV994648 | single nucleotide variant | NM_001370259.2(MEN1):c.244G>A (p.Asp82Asn) | Multiple endocrine neoplasia, type 1 [RCV001300074] | uncertain significance | 11 | 64809866 | 64809866 | Human | 1 | name |
| 126740216 | CV994649 | single nucleotide variant | NM_001370259.2(MEN1):c.208G>A (p.Asp70Asn) | Hereditary cancer-predisposing syndrome [RCV002418924]|Multiple endocrine neoplasia, type 1 [RCV001305245] | uncertain significance | 11 | 64809902 | 64809902 | Human | 2 | name |
| 126752847 | CV1009833 | single nucleotide variant | NM_001370259.2(MEN1):c.406G>C (p.Asp136His) | MEN1-related disorder [RCV003405552]|Multiple endocrine neoplasia, type 1 [RCV001327184] | uncertain significance | 11 | 64809704 | 64809704 | Human | 2 | alternate_id |
| 8689949 | CV139876 | single nucleotide variant | NM_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 significance | 11 | 64805650 | 64805650 | Human | 3 | alternate_id |
| 8689952 | CV139879 | single nucleotide variant | NM_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 significance | 11 | 64804573 | 64804573 | Human | 3 | alternate_id |
| 9686671 | CV171148 | single nucleotide variant | NM_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 significance | 11 | 64807982 | 64807982 | Human | 5 | alternate_id |
| 9686670 | CV171149 | single nucleotide variant | NM_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 [RCV0004556 64] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 11 | 64808034 | 64808034 | Human | 7 | alternate_id |
| 10042921 | CV186156 | single nucleotide variant | NM_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 significance | 11 | 64804600 | 64804600 | Human | 3 | alternate_id |
| 10042922 | CV186157 | single nucleotide variant | NM_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 significance | 11 | 64804632 | 64804632 | Human | 5 | alternate_id |
| 10056897 | CV197518 | microsatellite | NM_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 significance | 11 | 64804495 | 64804497 | Human | | alternate_id |
| 10407424 | CV212947 | single nucleotide variant | NM_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 significance | 11 | 64807650 | 64807650 | Human | 3 | alternate_id |
| 10407610 | CV212948 | single nucleotide variant | NM_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 significance | 11 | 64809749 | 64809749 | Human | 3 | alternate_id |
| 11349008 | CV241189 | single nucleotide variant | NM_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 significance | 11 | 64807581 | 64807581 | Human | 3 | alternate_id |
| 329368296 | CV2424189 | single nucleotide variant | NM_001370259.2(MEN1):c.814C>T (p.His272Tyr) | Hereditary cancer-predisposing syndrome [RCV003183513]|MEN1-related disorder [RCV004725672] | uncertain significance | 11 | 64807189 | 64807189 | Human | 2 | alternate_id |
| 8565760 | CV31729 | single nucleotide variant | NM_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] | pathogenic | 11 | 64807557 | 64807557 | Human | 3 | alternate_id |
| 405274845 | CV3204493 | single nucleotide variant | NM_001370259.2(MEN1):c.1533G>C (p.Val511=) | MEN1-related disorder [RCV003951925] | likely benign | 11 | 64804634 | 64804634 | Human | | trait , alternate_id |
| 12885326 | CV398276 | single nucleotide variant | NM_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 benign | 11 | 64805749 | 64805749 | Human | 3 | alternate_id |
| 12891572 | CV398350 | single nucleotide variant | NM_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 significance | 11 | 64804651 | 64804651 | Human | 3 | alternate_id |
| 12882077 | CV398351 | single nucleotide variant | NM_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 significance | 11 | 64804661 | 64804661 | Human | 3 | alternate_id |
| 12883441 | CV398426 | single nucleotide variant | NM_001370259.2(MEN1):c.205C>T (p.Pro69Ser) | Hereditary cancer-predisposing syndrome [RCV003362788]|MEN1-related disorder [RCV003401444]|Multiple endocrine neoplasia, type 1 [RCV000461607] | uncertain significance | 11 | 64809905 | 64809905 | Human | 3 | alternate_id |
| 12889960 | CV398702 | single nucleotide variant | NM_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 benign | 11 | 64804688 | 64804688 | Human | 3 | alternate_id |
| 12892445 | CV398739 | single nucleotide variant | NM_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 significance | 11 | 64807040 | 64807040 | Human | 3 | alternate_id |
| 12891346 | CV398743 | single nucleotide variant | NM_001370259.2(MEN1):c.682A>G (p.Met228Val) | Hereditary cancer-predisposing syndrome [RCV001025697]|MEN1-related disorder [RCV003401443]|Multiple endocrine neoplasia, type 1 [RCV000476428] | uncertain significance | 11 | 64807653 | 64807653 | Human | 3 | alternate_id |
| 12889496 | CV398749 | single nucleotide variant | NM_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 significance | 11 | 64809758 | 64809758 | Human | 3 | alternate_id |
| 13437092 | CV433091 | single nucleotide variant | NM_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] | pathogenic | 11 | 64806342 | 64806342 | Human | 3 | alternate_id |
| 13486996 | CV444855 | single nucleotide variant | NM_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 significance | 11 | 64809921 | 64809921 | Human | 3 | alternate_id |
| 8569648 | CV45186 | single nucleotide variant | NM_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 provided | 11 | 64805088 | 64805088 | Human | 5 | alternate_id |
| 13486187 | CV461263 | single nucleotide variant | NM_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 benign | 11 | 64804532 | 64804532 | Human | 3 | alternate_id |
| 13476197 | CV461273 | single nucleotide variant | NM_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 benign | 11 | 64804763 | 64804763 | Human | 3 | alternate_id |
| 13492953 | CV461278 | single nucleotide variant | NM_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 benign | 11 | 64805097 | 64805097 | Human | 3 | alternate_id |
| 13472024 | CV461783 | single nucleotide variant | NM_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 benign | 11 | 64804559 | 64804559 | Human | 3 | alternate_id |
| 13614603 | CV526329 | single nucleotide variant | NM_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 benign | 11 | 64804475 | 64804475 | Human | 3 | alternate_id |
| 13614604 | CV526590 | single nucleotide variant | NM_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 benign | 11 | 64804673 | 64804673 | Human | 3 | alternate_id |
| 13614619 | CV526877 | single nucleotide variant | NM_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 benign | 11 | 64805133 | 64805133 | Human | 3 | alternate_id |
| 14722913 | CV640286 | single nucleotide variant | NM_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 significance | 11 | 64807084 | 64807084 | Human | 3 | alternate_id |
| 15139988 | CV693081 | single nucleotide variant | NM_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 benign | 11 | 64805701 | 64805701 | Human | 3 | alternate_id |
| 38457941 | CV935676 | single nucleotide variant | NM_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 significance | 11 | 64807024 | 64807024 | Human | 3 | alternate_id |
| 126762915 | CV994636 | single nucleotide variant | NM_001370259.2(MEN1):c.1190C>T (p.Thr397Ile) | MEN1-related disorder [RCV003416184]|Multiple endocrine neoplasia, type 1 [RCV001310029] | uncertain significance | 11 | 64805194 | 64805194 | Human | 2 | alternate_id |
| 152050434 | CV1530858 | microsatellite | NM_001370259.2(MEN1):c.1351-35ACCTTGCTCTC[3] | Multiple endocrine neoplasia, type 1 [RCV002123136] | benign|likely benign | 11 | 64804829 | 64804830 | Human | | name |
| 25327280 | CV815504 | indel | NM_001370259.2(MEN1):c.825-1_828delinsTACCTAGAGGTT | Hereditary cancer-predisposing syndrome [RCV001027323] | pathogenic | 11 | 64807095 | 64807099 | Human | | name |