| 405282829 | CV3191137 | single nucleotide variant | NM_007180.3(TREH):c.423+6A>T | TREH-related disorder [RCV003921549] | likely benign | 11 | 118662875 | 118662875 | Human | | name , trait , alternate_id |
| 405287098 | CV3205556 | single nucleotide variant | NM_007180.3(TREH):c.424-9C>T | TREH-related disorder [RCV003959702] | likely benign | 11 | 118661999 | 118661999 | Human | | name , trait , alternate_id |
| 13506351 | CV481155 | deletion | NM_007180.3(TREH):c.90-9_106del | alpha, alpha-Trehalase deficiency [RCV000578124] | pathogenic|conflicting interpretations of pathogenicity | 11 | 118663423 | 118663448 | Human | 1 | name , trait , alternate_id |
| 405285022 | CV3202325 | single nucleotide variant | NM_007180.3(TREH):c.156G>A (p.Lys52=) | TREH-related disorder [RCV003909598] | benign | 11 | 118663373 | 118663373 | Human | 3 | name , trait , alternate_id |
| 405294236 | CV3214689 | single nucleotide variant | NM_007180.3(TREH):c.249G>A (p.Arg83=) | TREH-related disorder [RCV003934123] | likely benign | 11 | 118663138 | 118663138 | Human | | name , trait , alternate_id |
| 405261065 | CV3216220 | single nucleotide variant | NM_007180.3(TREH):c.192A>G (p.Glu64=) | TREH-related disorder [RCV003944350] | likely benign | 11 | 118663195 | 118663195 | Human | | name , trait , alternate_id |
| 405292833 | CV3217616 | single nucleotide variant | NM_007180.3(TREH):c.111G>A (p.Glu37=) | TREH-related disorder [RCV003964780] | likely benign | 11 | 118663418 | 118663418 | Human | | name , trait , alternate_id |
| 15159993 | CV701599 | variation | NM_007180.3(TREH):c.1734= (p.Leu578=) | not provided [RCV000947391] | benign | 11 | 118658307 | 118658307 | Human | | name |
| 405268688 | CV3201064 | single nucleotide variant | NM_007180.3(TREH):c.768C>T (p.Asp256=) | TREH-related disorder [RCV003899174] | likely benign | 11 | 118661249 | 118661249 | Human | | name , trait , alternate_id |
| 405282635 | CV3212974 | single nucleotide variant | NM_007180.3(TREH):c.723C>G (p.Thr241=) | TREH-related disorder [RCV003957082] | likely benign | 11 | 118661404 | 118661404 | Human | | name , trait , alternate_id |
| 405265739 | CV3215678 | single nucleotide variant | NM_007180.3(TREH):c.576G>A (p.Thr192=) | TREH-related disorder [RCV003946852] | likely benign | 11 | 118661678 | 118661678 | Human | | name , trait , alternate_id |
| 405292712 | CV3217280 | single nucleotide variant | NM_007180.3(TREH):c.645C>T (p.Arg215=) | TREH-related disorder [RCV003964703] | likely benign | 11 | 118661482 | 118661482 | Human | | name , trait , alternate_id |
| 156289159 | CV2229876 | single nucleotide variant | NM_007180.3(TREH):c.121C>A (p.Gln41Lys) | not specified [RCV004105433] | uncertain significance | 11 | 118663408 | 118663408 | Human | | name |
| 156081688 | CV2292840 | single nucleotide variant | NM_007180.3(TREH):c.259C>A (p.Gln87Lys) | alpha, alpha-Trehalase deficiency [RCV003140178]|not specified [RCV004148355] | uncertain significance | 11 | 118663128 | 118663128 | Human | 1 | name , trait , alternate_id |
| 329380157 | CV2466447 | single nucleotide variant | NM_007180.3(TREH):c.176T>G (p.Leu59Arg) | not specified [RCV004274003] | uncertain significance | 11 | 118663353 | 118663353 | Human | | name |
| 401747881 | CV2698869 | single nucleotide variant | NM_007180.3(TREH):c.293G>A (p.Gly98Glu) | not specified [RCV004301636] | uncertain significance | 11 | 118663094 | 118663094 | Human | | name |
| 401859424 | CV2771596 | single nucleotide variant | NM_007180.3(TREH):c.212C>T (p.Thr71Ile) | not specified [RCV004350403] | uncertain significance | 11 | 118663175 | 118663175 | Human | | name |
| 405268018 | CV3189565 | single nucleotide variant | NM_007180.3(TREH):c.1155C>T (p.Ala385=) | TREH-related disorder [RCV003898959] | likely benign | 11 | 118659912 | 118659912 | Human | | name , trait , alternate_id |
| 405259119 | CV3194541 | single nucleotide variant | NM_007180.3(TREH):c.1062C>T (p.Cys354=) | TREH-related disorder [RCV003893936] | likely benign | 11 | 118660579 | 118660579 | Human | | name , trait , alternate_id |
| 405275620 | CV3196419 | single nucleotide variant | NM_007180.3(TREH):c.1590T>C (p.Tyr530=) | TREH-related disorder [RCV003974255] | likely benign | 11 | 118658689 | 118658689 | Human | | name , trait , alternate_id |
| 405288481 | CV3197413 | single nucleotide variant | NM_007180.3(TREH):c.1623C>T (p.Gly541=) | TREH-related disorder [RCV003982509] | benign | 11 | 118658418 | 118658418 | Human | | name , trait , alternate_id |
| 405267891 | CV3219490 | single nucleotide variant | NM_007180.3(TREH):c.1101G>A (p.Leu367=) | TREH-related disorder [RCV003969707] | likely benign | 11 | 118660540 | 118660540 | Human | | name , trait , alternate_id |
| 405789084 | CV3340449 | single nucleotide variant | NM_007180.3(TREH):c.125T>C (p.Val42Ala) | not specified [RCV004473494] | uncertain significance | 11 | 118663404 | 118663404 | Human | | name |
| 407522100 | CV3492660 | single nucleotide variant | NM_007180.3(TREH):c.147G>C (p.Gln49His) | not specified [RCV004677554] | uncertain significance | 11 | 118663382 | 118663382 | Human | | name |
| 598129509 | CV3886922 | single nucleotide variant | NM_007180.3(TREH):c.262G>A (p.Ala88Thr) | not provided [RCV005244982] | likely benign | 11 | 118663125 | 118663125 | Human | | name |
| 126734610 | CV1020814 | single nucleotide variant | NM_007180.3(TREH):c.926G>A (p.Trp309Ter) | alpha, alpha-Trehalase deficiency [RCV001334648] | pathogenic | 11 | 118660715 | 118660715 | Human | | name , trait , alternate_id |
| 156184253 | CV2195474 | single nucleotide variant | NM_007180.3(TREH):c.356T>G (p.Ile119Ser) | not specified [RCV004082699] | uncertain significance | 11 | 118662948 | 118662948 | Human | | name |
| 156143785 | CV2200113 | single nucleotide variant | NM_007180.3(TREH):c.854C>A (p.Pro285His) | not specified [RCV004069686] | uncertain significance | 11 | 118661163 | 118661163 | Human | | name |
| 156255428 | CV2229294 | single nucleotide variant | NM_007180.3(TREH):c.913C>T (p.Arg305Trp) | TREH-related disorder [RCV003928901]|not specified [RCV004101094] | likely benign|uncertain significance | 11 | 118660728 | 118660728 | Human | 1 | name , trait , alternate_id |
| 156047543 | CV2244879 | single nucleotide variant | NM_007180.3(TREH):c.499G>A (p.Gly167Ser) | not specified [RCV004104634] | uncertain significance | 11 | 118661915 | 118661915 | Human | | name |
| 155993366 | CV2253575 | single nucleotide variant | NM_007180.3(TREH):c.455G>A (p.Arg152Gln) | not specified [RCV004125265] | likely benign | 11 | 118661959 | 118661959 | Human | | name |
| 155993378 | CV2253576 | single nucleotide variant | NM_007180.3(TREH):c.463C>A (p.Leu155Ile) | not specified [RCV004125266] | uncertain significance | 11 | 118661951 | 118661951 | Human | | name |
| 156215982 | CV2386028 | single nucleotide variant | NM_007180.3(TREH):c.724G>A (p.Ala242Thr) | not specified [RCV004229094] | likely benign | 11 | 118661403 | 118661403 | Human | | name |
| 156262824 | CV2391618 | single nucleotide variant | NM_007180.3(TREH):c.952T>G (p.Ser318Ala) | not specified [RCV004241782] | uncertain significance | 11 | 118660689 | 118660689 | Human | | name |
| 156005507 | CV2401098 | single nucleotide variant | NM_007180.3(TREH):c.674C>T (p.Pro225Leu) | not specified [RCV004245669] | uncertain significance | 11 | 118661453 | 118661453 | Human | | name |
| 401771214 | CV2675499 | single nucleotide variant | NM_007180.3(TREH):c.643C>T (p.Arg215Cys) | not specified [RCV004295117] | uncertain significance | 11 | 118661484 | 118661484 | Human | | name |
| 401753931 | CV2685106 | single nucleotide variant | NM_007180.3(TREH):c.808G>A (p.Gly270Arg) | not specified [RCV004289678] | uncertain significance | 11 | 118661209 | 118661209 | Human | | name |
| 401747884 | CV2698870 | single nucleotide variant | NM_007180.3(TREH):c.388C>A (p.Gln130Lys) | not specified [RCV004301637] | uncertain significance | 11 | 118662916 | 118662916 | Human | | name |
| 405789107 | CV3340455 | single nucleotide variant | NM_007180.3(TREH):c.772T>C (p.Trp258Arg) | not specified [RCV004473500] | uncertain significance | 11 | 118661245 | 118661245 | Human | | name |
| 405789111 | CV3340456 | single nucleotide variant | NM_007180.3(TREH):c.826A>C (p.Asn276His) | not specified [RCV004473501] | uncertain significance | 11 | 118661191 | 118661191 | Human | | name |
| 407425033 | CV3409315 | single nucleotide variant | NM_007180.3(TREH):c.983T>C (p.Ile328Thr) | not provided [RCV004585246] | likely benign | 11 | 118660658 | 118660658 | Human | | name |
| 407522102 | CV3492661 | single nucleotide variant | NM_007180.3(TREH):c.644G>A (p.Arg215His) | not specified [RCV004677555] | uncertain significance | 11 | 118661483 | 118661483 | Human | | name |
| 407461357 | CV3492662 | single nucleotide variant | NM_007180.3(TREH):c.307C>T (p.Pro103Ser) | not specified [RCV004687633] | uncertain significance | 11 | 118663080 | 118663080 | Human | | name |
| 597796683 | CV3617441 | single nucleotide variant | NM_007180.3(TREH):c.454C>T (p.Arg152Trp) | not specified [RCV004878577] | uncertain significance | 11 | 118661960 | 118661960 | Human | | name |
| 597796698 | CV3617446 | single nucleotide variant | NM_007180.3(TREH):c.401T>C (p.Leu134Pro) | not specified [RCV004878582] | uncertain significance | 11 | 118662903 | 118662903 | Human | | name |
| 597796704 | CV3617448 | single nucleotide variant | NM_007180.3(TREH):c.830G>A (p.Arg277His) | not specified [RCV004878584] | uncertain significance | 11 | 118661187 | 118661187 | Human | | name |
| 12849615 | CV364048 | single nucleotide variant | NM_007180.3(TREH):c.419A>G (p.Lys140Arg) | not provided [RCV000432910] | likely benign | 11 | 118662885 | 118662885 | Human | | name |
| 598273847 | CV3924832 | single nucleotide variant | NM_007180.3(TREH):c.829C>T (p.Arg277Cys) | not specified [RCV005303634] | uncertain significance | 11 | 118661188 | 118661188 | Human | | name |
| 598273849 | CV3924835 | single nucleotide variant | NM_007180.3(TREH):c.418A>C (p.Lys140Gln) | not specified [RCV005303635] | uncertain significance | 11 | 118662886 | 118662886 | Human | | name |
| 598202148 | CV3924838 | single nucleotide variant | NM_007180.3(TREH):c.839T>C (p.Val280Ala) | not specified [RCV005290321] | uncertain significance | 11 | 118661178 | 118661178 | Human | | name |
| 598273855 | CV3924842 | single nucleotide variant | NM_007180.3(TREH):c.721A>G (p.Thr241Ala) | not specified [RCV005303638] | uncertain significance | 11 | 118661406 | 118661406 | Human | | name |
| 156284282 | CV2231182 | single nucleotide variant | NM_007180.3(TREH):c.1594G>A (p.Val532Ile) | not specified [RCV004094386] | uncertain significance | 11 | 118658685 | 118658685 | Human | | name |
| 155981988 | CV2233139 | single nucleotide variant | NM_007180.3(TREH):c.1555A>G (p.Ser519Gly) | not specified [RCV004103753] | uncertain significance | 11 | 118658724 | 118658724 | Human | | name |
| 156120905 | CV2233809 | single nucleotide variant | NM_007180.3(TREH):c.1574G>A (p.Gly525Asp) | not specified [RCV004102028] | uncertain significance | 11 | 118658705 | 118658705 | Human | | name |
| 156302619 | CV2258703 | single nucleotide variant | NM_007180.3(TREH):c.1375G>A (p.Gly459Ser) | not specified [RCV004117944] | uncertain significance | 11 | 118659427 | 118659427 | Human | | name |
| 156242389 | CV2262057 | single nucleotide variant | NM_007180.3(TREH):c.1355C>T (p.Pro452Leu) | not specified [RCV004126534] | uncertain significance | 11 | 118659447 | 118659447 | Human | | name |
| 156278777 | CV2284984 | single nucleotide variant | NM_007180.3(TREH):c.1066G>A (p.Ala356Thr) | not specified [RCV004143419] | uncertain significance | 11 | 118660575 | 118660575 | Human | | name |
| 156278571 | CV2297455 | single nucleotide variant | NM_007180.3(TREH):c.1306C>G (p.Leu436Val) | not specified [RCV004153390] | uncertain significance | 11 | 118659761 | 118659761 | Human | | name |
| 156188973 | CV2302914 | single nucleotide variant | NM_007180.3(TREH):c.1588T>C (p.Tyr530His) | not specified [RCV004162799] | uncertain significance | 11 | 118658691 | 118658691 | Human | | name |
| 156200752 | CV2338261 | single nucleotide variant | NM_007180.3(TREH):c.1457G>A (p.Arg486Gln) | TREH-related disorder [RCV003963752]|not specified [RCV004186321] | likely benign|uncertain significance | 11 | 118658993 | 118658993 | Human | 1 | name , trait , alternate_id |
| 156216366 | CV2347991 | single nucleotide variant | NM_007180.3(TREH):c.1696C>T (p.His566Tyr) | TREH-related disorder [RCV003954014]|not specified [RCV004197675] | likely benign|uncertain significance | 11 | 118658345 | 118658345 | Human | 1 | name , trait , alternate_id |
| 156257566 | CV2368951 | single nucleotide variant | NM_007180.3(TREH):c.1524G>T (p.Gln508His) | TREH-related disorder [RCV003936678]|not specified [RCV004207900] | uncertain significance | 11 | 118658926 | 118658926 | Human | 1 | name , trait , alternate_id |
| 401776679 | CV2711259 | single nucleotide variant | NM_007180.3(TREH):c.1603G>A (p.Gly535Arg) | not specified [RCV004313045] | uncertain significance | 11 | 118658438 | 118658438 | Human | | name |
| 401779639 | CV2714658 | single nucleotide variant | NM_007180.3(TREH):c.1658G>A (p.Arg553Gln) | not specified [RCV004320240] | uncertain significance | 11 | 118658383 | 118658383 | Human | | name |
| 405293406 | CV3191848 | single nucleotide variant | NM_007180.3(TREH):c.1015A>G (p.Ile339Val) | TREH-related disorder [RCV003931832] | benign | 11 | 118660626 | 118660626 | Human | | name , trait , alternate_id |
| 405290417 | CV3200878 | single nucleotide variant | NM_007180.3(TREH):c.1165A>G (p.Thr389Ala) | TREH-related disorder [RCV003984542] | benign | 11 | 118659902 | 118659902 | Human | 1 | name , trait , alternate_id |
| 405287110 | CV3210550 | single nucleotide variant | NM_007180.3(TREH):c.1525A>T (p.Lys509Ter) | TREH-related disorder [RCV003924330] | uncertain significance | 11 | 118658925 | 118658925 | Human | | name , trait , alternate_id |
| 405270824 | CV3219820 | single nucleotide variant | NM_007180.3(TREH):c.1535T>C (p.Met512Thr) | TREH-related disorder [RCV003971550] | likely benign | 11 | 118658915 | 118658915 | Human | | name , trait , alternate_id |
| 405789072 | CV3340446 | single nucleotide variant | NM_007180.3(TREH):c.1085A>G (p.Asn362Ser) | not specified [RCV004473491] | uncertain significance | 11 | 118660556 | 118660556 | Human | | name |
| 405789076 | CV3340447 | single nucleotide variant | NM_007180.3(TREH):c.1109A>G (p.Asp370Gly) | not specified [RCV004473492] | uncertain significance | 11 | 118659958 | 118659958 | Human | | name |
| 405789080 | CV3340448 | single nucleotide variant | NM_007180.3(TREH):c.1232G>A (p.Arg411Gln) | not specified [RCV004473493] | likely benign | 11 | 118659835 | 118659835 | Human | | name |
| 405789088 | CV3340450 | single nucleotide variant | NM_007180.3(TREH):c.1291G>A (p.Val431Met) | not specified [RCV004473495] | uncertain significance | 11 | 118659776 | 118659776 | Human | | name |
| 405789092 | CV3340451 | single nucleotide variant | NM_007180.3(TREH):c.1495A>G (p.Ile499Val) | not specified [RCV004473496] | uncertain significance | 11 | 118658955 | 118658955 | Human | | name |
| 405789100 | CV3340453 | single nucleotide variant | NM_007180.3(TREH):c.1625T>A (p.Val542Glu) | not specified [RCV004473498] | uncertain significance | 11 | 118658416 | 118658416 | Human | | name |
| 405789103 | CV3340454 | single nucleotide variant | NM_007180.3(TREH):c.1693C>A (p.Pro565Thr) | not specified [RCV004473499] | uncertain significance | 11 | 118658348 | 118658348 | Human | | name |
| 597796680 | CV3617440 | single nucleotide variant | NM_007180.3(TREH):c.1646G>A (p.Arg549His) | not specified [RCV004878576] | uncertain significance | 11 | 118658395 | 118658395 | Human | | name |
| 597796685 | CV3617442 | single nucleotide variant | NM_007180.3(TREH):c.1472C>T (p.Ala491Val) | not specified [RCV004878578] | uncertain significance | 11 | 118658978 | 118658978 | Human | | name |
| 597796688 | CV3617443 | single nucleotide variant | NM_007180.3(TREH):c.1640T>G (p.Leu547Arg) | not specified [RCV004878579] | uncertain significance | 11 | 118658401 | 118658401 | Human | | name |
| 597796691 | CV3617444 | single nucleotide variant | NM_007180.3(TREH):c.1185G>C (p.Gln395His) | not specified [RCV004878580] | uncertain significance | 11 | 118659882 | 118659882 | Human | | name |
| 597796694 | CV3617445 | single nucleotide variant | NM_007180.3(TREH):c.1576G>C (p.Gly526Arg) | not specified [RCV004878581] | uncertain significance | 11 | 118658703 | 118658703 | Human | | name |
| 597796700 | CV3617447 | single nucleotide variant | NM_007180.3(TREH):c.1583G>T (p.Gly528Val) | not specified [RCV004878583] | uncertain significance | 11 | 118658696 | 118658696 | Human | | name |
| 12848954 | CV363659 | single nucleotide variant | NM_007180.3(TREH):c.1345T>C (p.Tyr449His) | not provided [RCV000421446] | likely benign | 11 | 118659457 | 118659457 | Human | | name |
| 598202136 | CV3924834 | single nucleotide variant | NM_007180.3(TREH):c.1406C>A (p.Ala469Asp) | not specified [RCV005290319] | uncertain significance | 11 | 118659396 | 118659396 | Human | | name |
| 598202142 | CV3924836 | single nucleotide variant | NM_007180.3(TREH):c.1087T>C (p.Phe363Leu) | not specified [RCV005290320] | uncertain significance | 11 | 118660554 | 118660554 | Human | | name |
| 598273851 | CV3924837 | single nucleotide variant | NM_007180.3(TREH):c.1231C>T (p.Arg411Trp) | not specified [RCV005303636] | uncertain significance | 11 | 118659836 | 118659836 | Human | | name |
| 598273853 | CV3924839 | single nucleotide variant | NM_007180.3(TREH):c.1316T>G (p.Leu439Arg) | not specified [RCV005303637] | uncertain significance | 11 | 118659751 | 118659751 | Human | | name |
| 598202152 | CV3924840 | single nucleotide variant | NM_007180.3(TREH):c.1126T>C (p.Tyr376His) | not specified [RCV005290322] | uncertain significance | 11 | 118659941 | 118659941 | Human | | name |
| 598202158 | CV3924841 | single nucleotide variant | NM_007180.3(TREH):c.1043A>G (p.Asp348Gly) | not specified [RCV005290323] | uncertain significance | 11 | 118660598 | 118660598 | Human | | name |
| 126734607 | CV1020813 | duplication | NM_007180.3(TREH):c.1748_*1dup (p.Trp583_Ter584=) | alpha, alpha-Trehalase deficiency [RCV001334647] | pathogenic | 11 | 118658287 | 118658288 | Human | | name , trait , alternate_id |
| 408366970 | CV3508354 | indel | NM_007180.3(TREH):c.1524_1525delinsTT (p.Gln508_Lys509delinsHisTer) | TREH-related disorder [RCV004757658] | uncertain significance | 11 | 118658925 | 118658926 | Human | | name , trait , alternate_id |