| 8559426 | CV21626 | deletion | LCT, 4-BP DEL, NT4998 | Congenital lactase deficiency [RCV000006965] | pathogenic | | | | Human | | name |
| 11590044 | CV281846 | single nucleotide variant | NM_002299.4(LCT):c.*50G>C | Congenital lactase deficiency [RCV000367706]|Lactose intolerance [RCV000315325]|not provided [RCV001672560] | benign | 2 | 135788274 | 135788274 | Human | 3 | name |
| 11589261 | CV284362 | single nucleotide variant | NM_002299.4(LCT):c.*10A>C | Congenital lactase deficiency [RCV000404521]|Lactose intolerance [RCV000309257] | uncertain significance | 2 | 135788314 | 135788314 | Human | 3 | name |
| 11590797 | CV282500 | single nucleotide variant | NM_002299.4(LCT):c.*429A>C | Congenital lactase deficiency [RCV000322643]|Lactose intolerance [RCV000379568]|not provided [RCV004710844] | likely benign | 2 | 135787895 | 135787895 | Human | 3 | name |
| 11585710 | CV282503 | single nucleotide variant | NM_002299.4(LCT):c.*325G>C | Congenital lactase deficiency [RCV000282754]|Lactose intolerance [RCV000337708] | benign|uncertain significance | 2 | 135787999 | 135787999 | Human | 3 | name |
| 11592218 | CV284144 | single nucleotide variant | NM_002299.4(LCT):c.*230T>C | Congenital lactase deficiency [RCV000405959]|Lactose intolerance [RCV000336547] | uncertain significance | 2 | 135788094 | 135788094 | Human | 3 | name |
| 11647957 | CV284357 | single nucleotide variant | NM_002299.4(LCT):c.*251G>A | Congenital lactase deficiency [RCV000392278]|Lactose intolerance [RCV000279167] | uncertain significance | 2 | 135788073 | 135788073 | Human | 3 | name |
| 28874751 | CV881066 | single nucleotide variant | NM_002299.4(LCT):c.*275A>G | Congenital lactase deficiency [RCV001133554] | uncertain significance | 2 | 135788049 | 135788049 | Human | 1 | name |
| 28874752 | CV881067 | single nucleotide variant | NM_002299.4(LCT):c.*239C>T | Congenital lactase deficiency [RCV001133555] | uncertain significance | 2 | 135788085 | 135788085 | Human | 1 | name |
| 28874756 | CV881068 | single nucleotide variant | NM_002299.4(LCT):c.*235C>T | Congenital lactase deficiency [RCV001133556] | likely benign | 2 | 135788089 | 135788089 | Human | 1 | name |
| 28874758 | CV881069 | single nucleotide variant | NM_002299.4(LCT):c.*193C>T | Congenital lactase deficiency [RCV001133557] | uncertain significance | 2 | 135788131 | 135788131 | Human | 1 | name |
| 152173044 | CV1641819 | deletion | NM_002299.4(LCT):c.721-9del | not provided [RCV002184044] | likely benign | 2 | 135829685 | 135829685 | Human | | name |
| 401936196 | CV2802819 | single nucleotide variant | NM_002299.4(LCT):c.805-1G>T | LCT-related disorder [RCV003414172] | likely pathogenic | 2 | 135824004 | 135824004 | Human | | name , trait , alternate_id |
| 405119271 | CV2949767 | single nucleotide variant | NM_002299.4(LCT):c.640+7A>G | not provided [RCV003667166] | likely benign | 2 | 135836523 | 135836523 | Human | | name |
| 402514415 | CV2993088 | single nucleotide variant | NM_002299.4(LCT):c.720+1G>T | not provided [RCV003715952] | likely pathogenic | 2 | 135833110 | 135833110 | Human | | name |
| 127247643 | CV1067820 | single nucleotide variant | NM_002299.4(LCT):c.641-20G>A | not provided [RCV001416936] | likely benign | 2 | 135833210 | 135833210 | Human | | name |
| 127234585 | CV1089544 | single nucleotide variant | NM_002299.4(LCT):c.4174-9C>T | LCT-related disorder [RCV003973271]|not provided [RCV001422086] | likely benign | 2 | 135805066 | 135805066 | Human | 1 | name , trait , alternate_id |
| 127233873 | CV1089545 | single nucleotide variant | NM_002299.4(LCT):c.907+17T>A | not provided [RCV001421895] | likely benign | 2 | 135823884 | 135823884 | Human | | name |
| 127314506 | CV1131957 | single nucleotide variant | NM_002299.4(LCT):c.804+14T>C | not provided [RCV001482235] | likely benign | 2 | 135829579 | 135829579 | Human | | name |
| 151839714 | CV1415267 | single nucleotide variant | NM_002299.4(LCT):c.5111+4A>G | not provided [RCV001921386] | uncertain significance | 2 | 135794637 | 135794637 | Human | | name |
| 151722053 | CV1421902 | deletion | NM_002299.4(LCT):c.5111+1del | not provided [RCV001909886] | pathogenic | 2 | 135794640 | 135794640 | Human | | name |
| 151787820 | CV1510071 | single nucleotide variant | NM_002299.4(LCT):c.4867-5C>A | not provided [RCV001916513] | uncertain significance | 2 | 135798143 | 135798143 | Human | | name |
| 152038105 | CV1529725 | single nucleotide variant | NM_002299.4(LCT):c.805-10T>C | not provided [RCV002187837] | likely benign | 2 | 135824013 | 135824013 | Human | | name |
| 152162335 | CV1535010 | single nucleotide variant | NM_002299.4(LCT):c.4465-8C>T | not provided [RCV002141131] | likely benign | 2 | 135804136 | 135804136 | Human | | name |
| 152126305 | CV1565799 | single nucleotide variant | NM_002299.4(LCT):c.720+18A>G | not provided [RCV002136363] | likely benign | 2 | 135833093 | 135833093 | Human | | name |
| 152105262 | CV1572443 | single nucleotide variant | NM_002299.4(LCT):c.4664-5T>C | not provided [RCV002152316] | likely benign | 2 | 135800814 | 135800814 | Human | | name |
| 152148061 | CV1618825 | single nucleotide variant | NM_002299.4(LCT):c.721-19A>T | not provided [RCV002121360] | likely benign | 2 | 135829695 | 135829695 | Human | | name |
| 152164029 | CV1619589 | single nucleotide variant | NM_002299.4(LCT):c.986+20T>G | not provided [RCV002181455] | likely benign | 2 | 135822000 | 135822000 | Human | | name |
| 152132159 | CV1621307 | single nucleotide variant | NM_002299.4(LCT):c.4464+7T>G | not provided [RCV002218219] | likely benign | 2 | 135804760 | 135804760 | Human | | name |
| 152117250 | CV1633467 | single nucleotide variant | NM_002299.4(LCT):c.4977-4C>T | not provided [RCV002117358] | likely benign | 2 | 135794779 | 135794779 | Human | | name |
| 152173547 | CV1662691 | single nucleotide variant | NM_002299.4(LCT):c.986+12T>C | not provided [RCV002144142] | likely benign | 2 | 135822008 | 135822008 | Human | | name |
| 156441914 | CV1941640 | single nucleotide variant | NM_002299.4(LCT):c.3904+9G>A | not provided [RCV003112248] | likely benign | 2 | 135808434 | 135808434 | Human | | name |
| 156157391 | CV1967704 | single nucleotide variant | NM_002299.4(LCT):c.4663+8C>G | not provided [RCV002594346] | likely benign | 2 | 135803922 | 135803922 | Human | | name |
| 156412118 | CV1970184 | single nucleotide variant | NM_002299.4(LCT):c.4867-6C>A | not provided [RCV002608448] | likely benign | 2 | 135798144 | 135798144 | Human | | name |
| 156344551 | CV1970438 | single nucleotide variant | NM_002299.4(LCT):c.5112-3T>C | not provided [RCV002601459] | uncertain significance | 2 | 135790884 | 135790884 | Human | | name |
| 156354899 | CV2008771 | single nucleotide variant | NM_002299.4(LCT):c.1708-8T>C | not provided [RCV002720453] | likely benign | 2 | 135812964 | 135812964 | Human | | name |
| 156160967 | CV2009502 | single nucleotide variant | NM_002299.4(LCT):c.720+11C>G | not provided [RCV002710169] | likely benign | 2 | 135833100 | 135833100 | Human | | name |
| 156378908 | CV2050733 | single nucleotide variant | NM_002299.4(LCT):c.640+16C>T | not provided [RCV002814931] | likely benign | 2 | 135836514 | 135836514 | Human | | name |
| 156117558 | CV2081358 | single nucleotide variant | NM_002299.4(LCT):c.641-11G>A | not provided [RCV002889429] | likely benign | 2 | 135833201 | 135833201 | Human | | name |
| 156154013 | CV2098615 | single nucleotide variant | NM_002299.4(LCT):c.5111+7C>A | not provided [RCV002890751] | likely benign | 2 | 135794634 | 135794634 | Human | | name |
| 155939631 | CV2142826 | single nucleotide variant | NM_002299.4(LCT):c.3904+1G>A | not provided [RCV002993966] | likely pathogenic | 2 | 135808442 | 135808442 | Human | | name |
| 8560049 | CV22724 | single nucleotide variant | NM_002299.2(LCT):c.-13907C>T | LACTASE PERSISTENCE [RCV000008124] | pathogenic|association | 2 | 135851076 | 135851076 | Human | | name |
| 401873259 | CV2752061 | single nucleotide variant | NM_002299.4(LCT):c.4866+2T>G | Congenital lactase deficiency [RCV003335938]|not provided [RCV003669389] | likely pathogenic | 2 | 135800605 | 135800605 | Human | 1 | name |
| 11586560 | CV281844 | microsatellite | NM_002299.4(LCT):c.*442GT[1] | Congenital lactase deficiency [RCV000288729]|Lactose intolerance [RCV000382836] | likely benign | 2 | 135787879 | 135787880 | Human | | name |
| 405141465 | CV2962032 | single nucleotide variant | NM_002299.4(LCT):c.4173+9T>C | not provided [RCV003673217] | likely benign | 2 | 135807119 | 135807119 | Human | | name |
| 405130928 | CV2962363 | single nucleotide variant | NM_002299.4(LCT):c.2353+9A>G | not provided [RCV003668318] | likely benign | 2 | 135812302 | 135812302 | Human | | name |
| 405221023 | CV2969631 | single nucleotide variant | NM_002299.4(LCT):c.5564-7C>A | not provided [RCV003680566] | likely benign | 2 | 135788551 | 135788551 | Human | | name |
| 404997062 | CV3012422 | single nucleotide variant | NM_002299.4(LCT):c.4976+1G>T | not provided [RCV003692800] | likely pathogenic | 2 | 135798028 | 135798028 | Human | | name |
| 405181728 | CV3024372 | deletion | NM_002299.4(LCT):c.986+16del | not provided [RCV003705600] | likely benign | 2 | 135822004 | 135822004 | Human | | name |
| 405202456 | CV3066977 | single nucleotide variant | NM_002299.4(LCT):c.2353+7A>T | not provided [RCV003730848] | likely benign | 2 | 135812304 | 135812304 | Human | | name |
| 405190464 | CV3118015 | single nucleotide variant | NM_002299.4(LCT):c.4867-4G>A | not provided [RCV003820925] | likely benign | 2 | 135798142 | 135798142 | Human | | name |
| 405187000 | CV3124378 | single nucleotide variant | NM_002299.4(LCT):c.720+16A>G | not provided [RCV003820577] | likely benign | 2 | 135833095 | 135833095 | Human | | name |
| 405077481 | CV3156266 | single nucleotide variant | NM_002299.4(LCT):c.986+19T>C | not provided [RCV003851324] | likely benign | 2 | 135822001 | 135822001 | Human | | name |
| 405236949 | CV3166579 | single nucleotide variant | NM_002299.4(LCT):c.4867-5C>T | not provided [RCV003854029] | likely benign | 2 | 135798143 | 135798143 | Human | | name |
| 597944265 | CV3776549 | single nucleotide variant | NM_002299.4(LCT):c.721-20T>C | not provided [RCV005119405] | likely benign | 2 | 135829696 | 135829696 | Human | | name |
| 597961395 | CV3794913 | single nucleotide variant | NM_002299.4(LCT):c.908-12C>A | not provided [RCV005138818] | likely benign | 2 | 135822110 | 135822110 | Human | | name |
| 597863050 | CV3813582 | single nucleotide variant | NM_002299.4(LCT):c.5563+9T>A | not provided [RCV005146844] | likely benign | 2 | 135789562 | 135789562 | Human | | name |
| 597962910 | CV3819483 | single nucleotide variant | NM_002299.4(LCT):c.908-11T>G | not provided [RCV005164199] | likely benign | 2 | 135822109 | 135822109 | Human | | name |
| 597967119 | CV3824178 | single nucleotide variant | NM_002299.4(LCT):c.805-15C>T | not provided [RCV005165401] | likely benign | 2 | 135824018 | 135824018 | Human | | name |
| 597963010 | CV3841308 | single nucleotide variant | NM_002299.4(LCT):c.5335+7C>T | not provided [RCV005193411] | likely benign | 2 | 135790651 | 135790651 | Human | | name |
| 597886292 | CV3854924 | single nucleotide variant | NM_002299.4(LCT):c.2354-4A>C | not provided [RCV005199770] | likely benign | 2 | 135809997 | 135809997 | Human | | name |
| 28878107 | CV882797 | single nucleotide variant | NM_002299.4(LCT):c.5563+7T>C | Congenital lactase deficiency [RCV001135043] | uncertain significance | 2 | 135789564 | 135789564 | Human | 1 | name |
| 28868529 | CV882798 | single nucleotide variant | NM_002299.4(LCT):c.5335+5G>A | Congenital lactase deficiency [RCV001130017] | uncertain significance | 2 | 135790653 | 135790653 | Human | 1 | name |
| 28878484 | CV882801 | single nucleotide variant | NM_002299.4(LCT):c.4173+5G>A | Congenital lactase deficiency [RCV001135187]|not provided [RCV001856726] | uncertain significance | 2 | 135807123 | 135807123 | Human | 1 | name |
| 127303777 | CV1153798 | single nucleotide variant | NM_002299.4(LCT):c.4866+20G>A | not provided [RCV001515602]|not specified [RCV001529150] | benign | 2 | 135800587 | 135800587 | Human | | name |
| 150335774 | CV1164875 | single nucleotide variant | NM_002299.4(LCT):c.4465-37C>T | Congenital lactase deficiency [RCV001730826]|not provided [RCV001530548] | benign | 2 | 135804165 | 135804165 | Human | 1 | name |
| 150512970 | CV1213060 | single nucleotide variant | NM_002299.4(LCT):c.5335+22C>A | not provided [RCV001598293] | benign | 2 | 135790636 | 135790636 | Human | | name |
| 150506133 | CV1213702 | single nucleotide variant | NM_002299.4(LCT):c.4977-26T>C | Congenital lactase deficiency [RCV001730861]|not provided [RCV001595958] | benign | 2 | 135794801 | 135794801 | Human | 1 | name |
| 150434408 | CV1215882 | single nucleotide variant | NM_002299.4(LCT):c.4976+74A>C | not provided [RCV001609070] | benign | 2 | 135797955 | 135797955 | Human | | name |
| 150464482 | CV1217534 | single nucleotide variant | NM_002299.4(LCT):c.907+117A>C | not provided [RCV001613955] | benign | 2 | 135823784 | 135823784 | Human | | name |
| 150499620 | CV1224622 | single nucleotide variant | NM_002299.4(LCT):c.987-256G>T | not provided [RCV001620453] | benign | 2 | 135818317 | 135818317 | Human | | name |
| 150502687 | CV1241622 | single nucleotide variant | NM_002299.4(LCT):c.986+180T>C | not provided [RCV001657213] | benign | 2 | 135821840 | 135821840 | Human | | name |
| 150503284 | CV1241770 | single nucleotide variant | NM_002299.4(LCT):c.3905-62G>C | not provided [RCV001657361] | benign | 2 | 135807458 | 135807458 | Human | | name |
| 150510639 | CV1242455 | single nucleotide variant | NM_002299.4(LCT):c.5564-37G>A | not provided [RCV001660805] | benign | 2 | 135788581 | 135788581 | Human | | name |
| 150512004 | CV1242854 | single nucleotide variant | NM_002299.4(LCT):c.5111+23C>T | Congenital lactase deficiency [RCV001730923]|not provided [RCV001661208] | benign | 2 | 135794618 | 135794618 | Human | 1 | name |
| 150485608 | CV1250263 | single nucleotide variant | NM_002299.4(LCT):c.5335+36C>T | not provided [RCV001673876] | benign | 2 | 135790622 | 135790622 | Human | | name |
| 150473376 | CV1252397 | single nucleotide variant | NM_002299.4(LCT):c.804+205G>T | not provided [RCV001671599] | benign | 2 | 135829388 | 135829388 | Human | | name |
| 150502173 | CV1255227 | single nucleotide variant | NM_002299.4(LCT):c.5335+59T>C | not provided [RCV001677146] | benign | 2 | 135790599 | 135790599 | Human | | name |
| 150495205 | CV1256590 | single nucleotide variant | NM_002299.4(LCT):c.5563+74T>C | not provided [RCV001675555] | benign | 2 | 135789497 | 135789497 | Human | | name |
| 150479440 | CV1258254 | single nucleotide variant | NM_002299.4(LCT):c.1708-87T>A | not provided [RCV001685672] | benign | 2 | 135813043 | 135813043 | Human | | name |
| 150457323 | CV1260122 | single nucleotide variant | NM_002299.4(LCT):c.805-112C>G | not provided [RCV001681602] | benign | 2 | 135824115 | 135824115 | Human | | name |
| 150452419 | CV1260393 | single nucleotide variant | NM_002299.4(LCT):c.640+140A>G | not provided [RCV001680883] | benign | 2 | 135836390 | 135836390 | Human | | name |
| 150497392 | CV1271721 | single nucleotide variant | NM_002299.4(LCT):c.720+123G>A | not provided [RCV001689022] | benign | 2 | 135832988 | 135832988 | Human | | name |
| 150514940 | CV1285373 | single nucleotide variant | NM_002299.4(LCT):c.805-275T>C | not provided [RCV001722826] | benign | 2 | 135824278 | 135824278 | Human | | name |
| 150514974 | CV1285384 | single nucleotide variant | NM_002299.4(LCT):c.2354-70T>C | not provided [RCV001722837] | benign | 2 | 135810063 | 135810063 | Human | | name |
| 150515060 | CV1285413 | single nucleotide variant | NM_002299.4(LCT):c.2353+33G>T | not provided [RCV001722866] | benign | 2 | 135812278 | 135812278 | Human | | name |
| 152046319 | CV1525827 | single nucleotide variant | NM_002299.4(LCT):c.4977-19A>C | not provided [RCV002126684] | likely benign | 2 | 135794794 | 135794794 | Human | | name |
| 152161207 | CV1531034 | single nucleotide variant | NM_002299.4(LCT):c.3904+12T>C | not provided [RCV002123228] | benign | 2 | 135808431 | 135808431 | Human | | name |
| 152161452 | CV1531125 | single nucleotide variant | NM_002299.4(LCT):c.5564-17G>A | not provided [RCV002123272] | benign | 2 | 135788561 | 135788561 | Human | | name |
| 152139553 | CV1549702 | single nucleotide variant | NM_002299.4(LCT):c.5111+20G>T | not provided [RCV002156582] | likely benign | 2 | 135794621 | 135794621 | Human | | name |
| 152172400 | CV1575823 | single nucleotide variant | NM_002299.4(LCT):c.4976+18G>A | not provided [RCV002183827] | likely benign | 2 | 135798011 | 135798011 | Human | | name |
| 152093034 | CV1584609 | single nucleotide variant | NM_002299.4(LCT):c.4464+17C>A | not provided [RCV002114335] | benign | 2 | 135804750 | 135804750 | Human | | name |
| 152069410 | CV1589196 | single nucleotide variant | NM_002299.4(LCT):c.4664-20A>T | not provided [RCV002209784] | likely benign | 2 | 135800829 | 135800829 | Human | | name |
| 152110256 | CV1617663 | single nucleotide variant | NM_002299.4(LCT):c.5336-14C>A | not provided [RCV002116455] | likely benign | 2 | 135789812 | 135789812 | Human | | name |
| 152093384 | CV1625847 | duplication | NM_002299.4(LCT):c.3904+15dup | not provided [RCV002150877] | likely benign | 2 | 135808427 | 135808428 | Human | | name |
| 152160389 | CV1650116 | single nucleotide variant | NM_002299.4(LCT):c.3905-19C>G | not provided [RCV002159533] | likely benign | 2 | 135807415 | 135807415 | Human | | name |
| 152064391 | CV1654244 | single nucleotide variant | NM_002299.4(LCT):c.4976+18G>T | not provided [RCV002190946] | likely benign | 2 | 135798011 | 135798011 | Human | | name |
| 152091665 | CV1662243 | single nucleotide variant | NM_002299.4(LCT):c.3905-18C>T | not provided [RCV002132121] | benign | 2 | 135807414 | 135807414 | Human | | name |
| 156173268 | CV1956390 | single nucleotide variant | NM_002299.4(LCT):c.2353+20C>A | not provided [RCV002573876] | likely benign | 2 | 135812291 | 135812291 | Human | | name |
| 156317028 | CV1975046 | single nucleotide variant | NM_002299.4(LCT):c.4976+12G>A | not provided [RCV002630122] | likely benign | 2 | 135798017 | 135798017 | Human | | name |
| 156164144 | CV1986057 | single nucleotide variant | NM_002299.4(LCT):c.5335+13C>A | not provided [RCV002642516] | likely benign | 2 | 135790645 | 135790645 | Human | | name |
| 156227499 | CV1991627 | single nucleotide variant | NM_002299.4(LCT):c.1708-20C>T | not provided [RCV002626672] | likely benign | 2 | 135812976 | 135812976 | Human | | name |
| 155957454 | CV2078414 | single nucleotide variant | NM_002299.4(LCT):c.2353+14A>C | not provided [RCV002880843] | likely benign | 2 | 135812297 | 135812297 | Human | | name |
| 156116030 | CV2093185 | single nucleotide variant | NM_002299.4(LCT):c.1707+17C>A | not provided [RCV002913972] | likely benign | 2 | 135817324 | 135817324 | Human | | name |
| 156096827 | CV2152197 | single nucleotide variant | NM_002299.4(LCT):c.1707+20C>G | not provided [RCV003020898] | likely benign | 2 | 135817321 | 135817321 | Human | | name |
| 405035333 | CV2923492 | single nucleotide variant | NM_002299.4(LCT):c.4867-18C>T | not provided [RCV003578654] | likely benign | 2 | 135798156 | 135798156 | Human | | name |
| 402503744 | CV2932690 | single nucleotide variant | NM_002299.4(LCT):c.5336-14C>T | not provided [RCV003574200] | likely benign | 2 | 135789812 | 135789812 | Human | | name |
| 405132996 | CV2962385 | single nucleotide variant | NM_002299.4(LCT):c.4464+10G>A | not provided [RCV003668333] | likely benign | 2 | 135804757 | 135804757 | Human | | name |
| 405215568 | CV2981565 | single nucleotide variant | NM_002299.4(LCT):c.4465-17A>C | not provided [RCV003709208] | likely benign | 2 | 135804145 | 135804145 | Human | | name |
| 405249344 | CV2987246 | single nucleotide variant | NM_002299.4(LCT):c.3904+19C>T | not provided [RCV003686068] | likely benign | 2 | 135808424 | 135808424 | Human | | name |
| 402480380 | CV3033280 | single nucleotide variant | NM_002299.4(LCT):c.2354-20A>G | not provided [RCV003712754] | likely benign | 2 | 135810013 | 135810013 | Human | | name |
| 405225205 | CV3042012 | single nucleotide variant | NM_002299.4(LCT):c.2353+16G>A | not provided [RCV003710513] | likely benign | 2 | 135812295 | 135812295 | Human | | name |
| 405205406 | CV3116996 | single nucleotide variant | NM_002299.4(LCT):c.3905-18C>G | not provided [RCV003822480] | likely benign | 2 | 135807414 | 135807414 | Human | | name |
| 405082555 | CV3137427 | single nucleotide variant | NM_002299.4(LCT):c.4977-19A>G | not provided [RCV003834136] | likely benign | 2 | 135794794 | 135794794 | Human | | name |
| 405170133 | CV3149920 | single nucleotide variant | NM_002299.4(LCT):c.4174-20C>G | not provided [RCV003841391] | likely benign | 2 | 135805077 | 135805077 | Human | | name |
| 405140467 | CV3155159 | single nucleotide variant | NM_002299.4(LCT):c.5564-20C>T | not provided [RCV003855397] | likely benign | 2 | 135788564 | 135788564 | Human | | name |
| 405225999 | CV3169341 | single nucleotide variant | NM_002299.4(LCT):c.4867-14C>G | not provided [RCV003864365] | likely benign | 2 | 135798152 | 135798152 | Human | | name |
| 405238422 | CV3169633 | single nucleotide variant | NM_002299.4(LCT):c.1707+19G>A | not provided [RCV003866721] | likely benign | 2 | 135817322 | 135817322 | Human | | name |
| 597837437 | CV3736482 | single nucleotide variant | NM_002299.4(LCT):c.5335+14G>A | not provided [RCV005064155] | likely benign | 2 | 135790644 | 135790644 | Human | | name |
| 597871843 | CV3737315 | single nucleotide variant | NM_002299.4(LCT):c.4976+17C>T | not provided [RCV005068761] | likely benign | 2 | 135798012 | 135798012 | Human | | name |
| 597852315 | CV3737626 | single nucleotide variant | NM_002299.4(LCT):c.4663+19T>A | not provided [RCV005066399] | likely benign | 2 | 135803911 | 135803911 | Human | | name |
| 597858195 | CV3748241 | single nucleotide variant | NM_002299.4(LCT):c.4866+19C>T | not provided [RCV005067063] | likely benign | 2 | 135800588 | 135800588 | Human | | name |
| 597922056 | CV3777453 | single nucleotide variant | NM_002299.4(LCT):c.2354-20A>T | not provided [RCV005130382] | likely benign | 2 | 135810013 | 135810013 | Human | | name |
| 597957490 | CV3800533 | single nucleotide variant | NM_002299.4(LCT):c.4977-18A>C | not provided [RCV005137625] | likely benign | 2 | 135794793 | 135794793 | Human | | name |
| 597962761 | CV3809258 | single nucleotide variant | NM_002299.4(LCT):c.5335+13C>T | not provided [RCV005164160] | likely benign | 2 | 135790645 | 135790645 | Human | | name |
| 597928971 | CV3816209 | single nucleotide variant | NM_002299.4(LCT):c.4977-15G>A | not provided [RCV005156790] | likely benign | 2 | 135794790 | 135794790 | Human | | name |
| 597882172 | CV3823024 | single nucleotide variant | NM_002299.4(LCT):c.5111+15A>T | not provided [RCV005178350] | likely benign | 2 | 135794626 | 135794626 | Human | | name |
| 597973925 | CV3831144 | single nucleotide variant | NM_002299.4(LCT):c.5564-10A>G | not provided [RCV005168282] | likely benign | 2 | 135788554 | 135788554 | Human | | name |
| 28868532 | CV882799 | single nucleotide variant | NM_002299.4(LCT):c.4866+12C>T | Congenital lactase deficiency [RCV001130018]|not provided [RCV001519668] | benign|likely benign | 2 | 135800595 | 135800595 | Human | 1 | name |
| 28869604 | CV882800 | single nucleotide variant | NM_002299.4(LCT):c.4664-10A>G | Congenital lactase deficiency [RCV001130730]|not provided [RCV001856694] | likely benign|uncertain significance | 2 | 135800819 | 135800819 | Human | 1 | name |
| 150336027 | CV1164874 | single nucleotide variant | NM_002299.4(LCT):c.5335+112C>G | not provided [RCV001530658] | benign | 2 | 135790546 | 135790546 | Human | | name |
| 150511442 | CV1212746 | deletion | NM_002299.4(LCT):c.1707+297del | not provided [RCV001597978] | benign | 2 | 135817044 | 135817044 | Human | | name |
| 150499568 | CV1224612 | single nucleotide variant | NM_002299.4(LCT):c.4174-186A>G | not provided [RCV001620443] | benign | 2 | 135805243 | 135805243 | Human | | name |
| 150500381 | CV1224778 | single nucleotide variant | NM_002299.4(LCT):c.5563+214G>A | not provided [RCV001620610] | benign | 2 | 135789357 | 135789357 | Human | | name |
| 150495356 | CV1225055 | single nucleotide variant | NM_002299.4(LCT):c.4977-181T>G | not provided [RCV001619533] | benign | 2 | 135794956 | 135794956 | Human | | name |
| 150495791 | CV1225163 | duplication | NM_002299.4(LCT):c.4977-168dup | not provided [RCV001619641] | benign | 2 | 135794942 | 135794943 | Human | | name |
| 150430479 | CV1230900 | single nucleotide variant | NM_002299.4(LCT):c.4977-172C>T | not provided [RCV001641449] | benign | 2 | 135794947 | 135794947 | Human | | name |
| 150506050 | CV1242118 | single nucleotide variant | NM_002299.4(LCT):c.4976+115A>G | not provided [RCV001658471] | benign | 2 | 135797914 | 135797914 | Human | | name |
| 150460164 | CV1253063 | single nucleotide variant | NM_002299.4(LCT):c.4174-301A>G | not provided [RCV001669392] | benign | 2 | 135805358 | 135805358 | Human | | name |
| 150458281 | CV1269609 | single nucleotide variant | NM_002299.4(LCT):c.5336-115C>T | not provided [RCV001693149] | benign | 2 | 135789913 | 135789913 | Human | | name |
| 150512278 | CV1284905 | single nucleotide variant | NM_002299.4(LCT):c.1708-224A>G | not provided [RCV001721774] | benign | 2 | 135813180 | 135813180 | Human | | name |
| 150468543 | CV1257066 | microsatellite | NM_002299.4(LCT):c.4977-270CG[7] | not provided [RCV001670712] | benign | 2 | 135795033 | 135795034 | Human | | name |
| 402493403 | CV2874186 | single nucleotide variant | NM_002299.4(LCT):c.6G>A (p.Glu2=) | not provided [RCV003545145] | likely benign | 2 | 135837164 | 135837164 | Human | | name |
| 28879218 | CV881105 | single nucleotide variant | NM_002299.4(LCT):c.21A>G (p.Val7=) | Congenital lactase deficiency [RCV001135459]|not provided [RCV001504411] | likely benign|uncertain significance | 2 | 135837149 | 135837149 | Human | 1 | name |
| 152166286 | CV1620875 | single nucleotide variant | NM_002299.4(LCT):c.34C>T (p.Leu12=) | not provided [RCV002181902] | likely benign | 2 | 135837136 | 135837136 | Human | | name |
| 152108661 | CV1643608 | single nucleotide variant | NM_002299.4(LCT):c.93C>T (p.Thr31=) | not provided [RCV002096541] | likely benign | 2 | 135837077 | 135837077 | Human | | name |
| 11580690 | CV281866 | microsatellite | NM_002299.4(LCT):c.4173+6_4173+8del | Congenital lactase deficiency [RCV000406813]|LCT-related disorder [RCV003912390]|Lactose intolerance [RCV000341400]|not provided [RCV000900468] | benign|uncertain significance | 2 | 135807120 | 135807122 | Human | | name , trait , alternate_id |
| 405136087 | CV3052200 | single nucleotide variant | NM_002299.4(LCT):c.57G>A (p.Gly19=) | not provided [RCV003725249] | likely benign | 2 | 135837113 | 135837113 | Human | | name |
| 405245976 | CV3075662 | single nucleotide variant | NM_002299.4(LCT):c.57G>T (p.Gly19=) | not provided [RCV003738608] | likely benign | 2 | 135837113 | 135837113 | Human | | name |
| 597848011 | CV3746426 | single nucleotide variant | NM_002299.4(LCT):c.33C>A (p.Ala11=) | not provided [RCV005060244] | likely benign | 2 | 135837137 | 135837137 | Human | | name |
| 28879214 | CV881104 | single nucleotide variant | NM_002299.4(LCT):c.30T>C (p.Ile10=) | Congenital lactase deficiency [RCV001135458]|not provided [RCV002070581] | benign|uncertain significance | 2 | 135837140 | 135837140 | Human | 1 | name |
| 152098032 | CV1534430 | single nucleotide variant | NM_002299.4(LCT):c.207C>G (p.Pro69=) | not provided [RCV002095124] | likely benign | 2 | 135836963 | 135836963 | Human | | name |
| 152149842 | CV1545467 | single nucleotide variant | NM_002299.4(LCT):c.216G>C (p.Leu72=) | not provided [RCV002121588] | likely benign | 2 | 135836954 | 135836954 | Human | | name |
| 152027898 | CV1607534 | single nucleotide variant | NM_002299.4(LCT):c.168A>G (p.Ala56=) | not provided [RCV002105051] | likely benign | 2 | 135837002 | 135837002 | Human | | name |
| 156282293 | CV1964430 | single nucleotide variant | NM_002299.4(LCT):c.156T>C (p.Ser52=) | not provided [RCV002577518] | likely benign | 2 | 135837014 | 135837014 | Human | | name |
| 156099404 | CV2007667 | single nucleotide variant | NM_002299.4(LCT):c.105A>C (p.Leu35=) | not provided [RCV002695247] | likely benign | 2 | 135837065 | 135837065 | Human | | name |
| 156314338 | CV2017876 | single nucleotide variant | NM_002299.4(LCT):c.27T>G (p.Phe9Leu) | not provided [RCV002671814] | uncertain significance | 2 | 135837143 | 135837143 | Human | | name |
| 156353648 | CV2190610 | single nucleotide variant | NM_002299.4(LCT):c.180C>T (p.Asp60=) | not provided [RCV003048520] | likely benign | 2 | 135836990 | 135836990 | Human | | name |
| 405184298 | CV2967550 | single nucleotide variant | NM_002299.4(LCT):c.189T>C (p.Val63=) | not provided [RCV003676597] | likely benign | 2 | 135836981 | 135836981 | Human | | name |
| 405214339 | CV2971474 | single nucleotide variant | NM_002299.4(LCT):c.141G>A (p.Leu47=) | not provided [RCV003679820] | likely benign | 2 | 135837029 | 135837029 | Human | | name |
| 405178182 | CV3148578 | duplication | NM_002299.4(LCT):c.27dup (p.Ile10fs) | not provided [RCV003858355] | pathogenic | 2 | 135837142 | 135837143 | Human | | name |
| 597948452 | CV3818321 | single nucleotide variant | NM_002299.4(LCT):c.237C>T (p.Leu79=) | not provided [RCV005160582] | likely benign | 2 | 135836933 | 135836933 | Human | | name |
| 151804294 | CV1432273 | single nucleotide variant | NM_002299.4(LCT):c.29T>C (p.Ile10Thr) | Inborn genetic diseases [RCV003355728]|not provided [RCV001991235] | uncertain significance | 2 | 135837141 | 135837141 | Human | 1 | name |
| 152046309 | CV1525826 | deletion | NM_002299.4(LCT):c.4977-18_4977-16del | not provided [RCV002126683] | likely benign | 2 | 135794791 | 135794793 | Human | | name |
| 152070579 | CV1535399 | single nucleotide variant | NM_002299.4(LCT):c.966T>C (p.Cys322=) | LCT-related disorder [RCV003951023]|not provided [RCV002111394] | likely benign | 2 | 135822040 | 135822040 | Human | 1 | name , trait , alternate_id |
| 152164321 | CV1543486 | single nucleotide variant | NM_002299.4(LCT):c.663G>T (p.Leu221=) | not provided [RCV002123777] | likely benign | 2 | 135833168 | 135833168 | Human | | name |
| 152143549 | CV1557033 | single nucleotide variant | NM_002299.4(LCT):c.585C>T (p.Leu195=) | not provided [RCV002200893] | likely benign | 2 | 135836585 | 135836585 | Human | | name |
| 152094194 | CV1561734 | single nucleotide variant | NM_002299.4(LCT):c.876C>T (p.Asn292=) | not provided [RCV002194696] | likely benign | 2 | 135823932 | 135823932 | Human | | name |
| 152029256 | CV1568204 | single nucleotide variant | NM_002299.4(LCT):c.711G>T (p.Ala237=) | not provided [RCV002105524] | likely benign | 2 | 135833120 | 135833120 | Human | | name |
| 152120757 | CV1576251 | single nucleotide variant | NM_002299.4(LCT):c.567G>A (p.Ala189=) | not provided [RCV002198020] | likely benign | 2 | 135836603 | 135836603 | Human | | name |
| 152119545 | CV1579158 | deletion | NM_002299.4(LCT):c.4663+12_4663+24del | not provided [RCV002081363] | likely benign | 2 | 135803906 | 135803918 | Human | | name |
| 152164618 | CV1588588 | single nucleotide variant | NM_002299.4(LCT):c.357C>T (p.Ala119=) | not provided [RCV002181572] | likely benign | 2 | 135836813 | 135836813 | Human | | name |
| 152043058 | CV1640234 | single nucleotide variant | NM_002299.4(LCT):c.642C>T (p.Gly214=) | not provided [RCV002165941] | likely benign | 2 | 135833189 | 135833189 | Human | | name |
| 152089107 | CV1655826 | single nucleotide variant | NM_002299.4(LCT):c.888G>C (p.Leu296=) | not provided [RCV002194063] | likely benign | 2 | 135823920 | 135823920 | Human | | name |
| 156440268 | CV1946629 | single nucleotide variant | NM_002299.4(LCT):c.477C>T (p.Phe159=) | not provided [RCV003110299] | likely benign | 2 | 135836693 | 135836693 | Human | | name |
| 156336878 | CV1963990 | single nucleotide variant | NM_002299.4(LCT):c.726G>A (p.Thr242=) | not provided [RCV002580291] | likely benign | 2 | 135829671 | 135829671 | Human | | name |
| 155901177 | CV1975652 | single nucleotide variant | NM_002299.4(LCT):c.861C>T (p.Pro287=) | not provided [RCV002613396] | likely benign | 2 | 135823947 | 135823947 | Human | | name |
| 156405168 | CV1994258 | single nucleotide variant | NM_002299.4(LCT):c.351C>T (p.Leu117=) | not provided [RCV002658239] | likely benign | 2 | 135836819 | 135836819 | Human | | name |
| 156029562 | CV2001016 | single nucleotide variant | NM_002299.4(LCT):c.471C>T (p.Phe157=) | not provided [RCV002658601] | likely benign | 2 | 135836699 | 135836699 | Human | | name |
| 156072331 | CV2018598 | single nucleotide variant | NM_002299.4(LCT):c.468A>G (p.Thr156=) | not provided [RCV002705723] | likely benign | 2 | 135836702 | 135836702 | Human | | name |
| 156249784 | CV2029556 | single nucleotide variant | NM_002299.4(LCT):c.62A>C (p.Asp21Ala) | not provided [RCV002745949] | uncertain significance | 2 | 135837108 | 135837108 | Human | | name |
| 156025272 | CV2100157 | single nucleotide variant | NM_002299.4(LCT):c.426G>C (p.Arg142=) | not provided [RCV002885146] | likely benign | 2 | 135836744 | 135836744 | Human | | name |
| 155979305 | CV2101524 | single nucleotide variant | NM_002299.4(LCT):c.651C>G (p.Leu217=) | not provided [RCV002907625] | likely benign | 2 | 135833180 | 135833180 | Human | | name |
| 156374034 | CV2123915 | single nucleotide variant | NM_002299.4(LCT):c.664C>A (p.Arg222=) | not provided [RCV002942560] | likely benign | 2 | 135833167 | 135833167 | Human | | name |
| 156358001 | CV2126216 | single nucleotide variant | NM_002299.4(LCT):c.681G>A (p.Pro227=) | not provided [RCV002966795] | uncertain significance | 2 | 135833150 | 135833150 | Human | | name |
| 156206601 | CV2146986 | single nucleotide variant | NM_002299.4(LCT):c.657T>C (p.Val219=) | not provided [RCV003006522] | likely benign | 2 | 135833174 | 135833174 | Human | | name |
| 11579471 | CV281889 | single nucleotide variant | NM_002299.4(LCT):c.582C>T (p.Thr194=) | Congenital lactase deficiency [RCV000407317]|Lactose intolerance [RCV000304642]|not provided [RCV001511199] | benign | 2 | 135836588 | 135836588 | Human | 3 | name |
| 11578572 | CV282525 | single nucleotide variant | NM_002299.4(LCT):c.621C>T (p.His207=) | Congenital lactase deficiency [RCV000339630]|Lactose intolerance [RCV000284490] | uncertain significance | 2 | 135836549 | 135836549 | Human | 3 | name |
| 11578115 | CV284187 | single nucleotide variant | NM_002299.4(LCT):c.318C>T (p.Asp106=) | Congenital lactase deficiency [RCV000274754]|Inborn genetic diseases [RCV005365251]|LCT-related disorder [RCV003912391]|Lactose intolerance [RCV000311055]|not provided [RCV001510959] | benign|likely benign | 2 | 135836852 | 135836852 | Human | 4 | name , trait , alternate_id |
| 11579148 | CV284428 | single nucleotide variant | NM_002299.4(LCT):c.729C>G (p.Val243=) | Congenital lactase deficiency [RCV000296560]|Lactose intolerance [RCV000333068]|not provided [RCV001522567] | benign|likely benign | 2 | 135829668 | 135829668 | Human | 3 | name |
| 11647340 | CV284435 | single nucleotide variant | NM_002299.4(LCT):c.54G>C (p.Trp18Cys) | Congenital lactase deficiency [RCV000370438]|Lactose intolerance [RCV000275730]|not provided [RCV002521296] | uncertain significance | 2 | 135837116 | 135837116 | Human | 3 | name |
| 405081777 | CV2864860 | single nucleotide variant | NM_002299.4(LCT):c.799T>C (p.Leu267=) | not provided [RCV003549288] | likely benign | 2 | 135829598 | 135829598 | Human | | name |
| 405228225 | CV2980670 | single nucleotide variant | NM_002299.4(LCT):c.972A>G (p.Ser324=) | not provided [RCV003711072] | likely benign | 2 | 135822034 | 135822034 | Human | | name |
| 405042077 | CV3064100 | single nucleotide variant | NM_002299.4(LCT):c.885T>C (p.Ser295=) | not provided [RCV003739975] | likely benign | 2 | 135823923 | 135823923 | Human | | name |
| 405242075 | CV3078598 | single nucleotide variant | NM_002299.4(LCT):c.486C>T (p.Phe162=) | not provided [RCV003737495] | likely benign | 2 | 135836684 | 135836684 | Human | | name |
| 405136174 | CV3164330 | single nucleotide variant | NM_002299.4(LCT):c.366T>C (p.Thr122=) | not provided [RCV003855125] | likely benign | 2 | 135836804 | 135836804 | Human | | name |
| 407491496 | CV3452566 | single nucleotide variant | NM_002299.4(LCT):c.98G>T (p.Gly33Val) | Inborn genetic diseases [RCV004642232] | uncertain significance | 2 | 135837072 | 135837072 | Human | 1 | name |
| 597906875 | CV3738840 | single nucleotide variant | NM_002299.4(LCT):c.510C>T (p.Phe170=) | not provided [RCV005073075] | likely benign | 2 | 135836660 | 135836660 | Human | | name |
| 597856857 | CV3748100 | single nucleotide variant | NM_002299.4(LCT):c.765A>G (p.Gln255=) | not provided [RCV005066922] | likely benign | 2 | 135829632 | 135829632 | Human | | name |
| 597964824 | CV3751020 | microsatellite | NM_002299.4(LCT):c.1708-16_1708-14del | not provided [RCV005082582] | likely benign | 2 | 135812970 | 135812972 | Human | | name |
| 597857428 | CV3769495 | single nucleotide variant | NM_002299.4(LCT):c.837C>T (p.Phe279=) | not provided [RCV005105536] | likely benign | 2 | 135823971 | 135823971 | Human | | name |
| 597938346 | CV3788252 | single nucleotide variant | NM_002299.4(LCT):c.345A>G (p.Arg115=) | not provided [RCV005132927] | likely benign | 2 | 135836825 | 135836825 | Human | | name |
| 597879575 | CV3810152 | single nucleotide variant | NM_002299.4(LCT):c.633T>C (p.Ala211=) | not provided [RCV005149614] | likely benign | 2 | 135836537 | 135836537 | Human | | name |
| 597974023 | CV3821043 | single nucleotide variant | NM_002299.4(LCT):c.900T>C (p.Leu300=) | not provided [RCV005168364] | likely benign | 2 | 135823908 | 135823908 | Human | | name |
| 597879494 | CV3856973 | single nucleotide variant | NM_002299.4(LCT):c.651C>A (p.Leu217=) | not provided [RCV005198773] | likely benign | 2 | 135833180 | 135833180 | Human | | name |
| 28870086 | CV881098 | single nucleotide variant | NM_002299.4(LCT):c.840C>T (p.Asn280=) | Congenital lactase deficiency [RCV001130997]|not provided [RCV001856695] | likely benign|uncertain significance | 2 | 135823968 | 135823968 | Human | 1 | name |
| 28879209 | CV881103 | single nucleotide variant | NM_002299.4(LCT):c.89C>T (p.Ser30Phe) | Congenital lactase deficiency [RCV001135457]|Inborn genetic diseases [RCV002556887]|not provided [RCV001856728] | uncertain significance | 2 | 135837081 | 135837081 | Human | 2 | name |
| 127328559 | CV1111089 | single nucleotide variant | NM_002299.4(LCT):c.2337C>A (p.Ile779=) | not provided [RCV001469603] | likely benign | 2 | 135812327 | 135812327 | Human | | name |
| 151771743 | CV1404580 | single nucleotide variant | NM_002299.4(LCT):c.109A>G (p.Asn37Asp) | not provided [RCV002045312] | uncertain significance | 2 | 135837061 | 135837061 | Human | | name |
| 151767497 | CV1415109 | single nucleotide variant | NM_002299.4(LCT):c.289C>T (p.Leu97Phe) | not provided [RCV001929194] | uncertain significance | 2 | 135836881 | 135836881 | Human | | name |
| 151867341 | CV1422599 | single nucleotide variant | NM_002299.4(LCT):c.268T>C (p.Phe90Leu) | Inborn genetic diseases [RCV004631798]|not provided [RCV001884699] | uncertain significance | 2 | 135836902 | 135836902 | Human | 1 | name |
| 151709320 | CV1461019 | single nucleotide variant | NM_002299.4(LCT):c.172G>A (p.Asp58Asn) | not provided [RCV001889033] | uncertain significance | 2 | 135836998 | 135836998 | Human | | name |
| 152121402 | CV1521439 | single nucleotide variant | NM_002299.4(LCT):c.1044C>T (p.His348=) | not provided [RCV002135752] | likely benign | 2 | 135818004 | 135818004 | Human | | name |
| 152147691 | CV1528650 | single nucleotide variant | NM_002299.4(LCT):c.1122G>A (p.Arg374=) | not provided [RCV002101734] | likely benign | 2 | 135817926 | 135817926 | Human | | name |
| 152124940 | CV1532254 | single nucleotide variant | NM_002299.4(LCT):c.2283A>G (p.Glu761=) | not provided [RCV002118328] | likely benign | 2 | 135812381 | 135812381 | Human | | name |
| 152110131 | CV1536930 | single nucleotide variant | NM_002299.4(LCT):c.1689A>G (p.Pro563=) | not provided [RCV002215368] | likely benign | 2 | 135817359 | 135817359 | Human | | name |
| 152164761 | CV1543596 | single nucleotide variant | NM_002299.4(LCT):c.2187C>T (p.Pro729=) | not provided [RCV002123869] | likely benign | 2 | 135812477 | 135812477 | Human | | name |
| 152114160 | CV1559326 | single nucleotide variant | NM_002299.4(LCT):c.2985T>C (p.His995=) | not provided [RCV002174706] | likely benign | 2 | 135809362 | 135809362 | Human | | name |
| 152050285 | CV1569005 | single nucleotide variant | NM_002299.4(LCT):c.1692A>G (p.Gly564=) | LCT-related disorder [RCV003968802]|not provided [RCV002207434] | likely benign | 2 | 135817356 | 135817356 | Human | 1 | name , trait , alternate_id |
| 152148202 | CV1576946 | single nucleotide variant | NM_002299.4(LCT):c.1149T>G (p.Pro383=) | not provided [RCV002179042] | likely benign | 2 | 135817899 | 135817899 | Human | | name |
| 152096439 | CV1583550 | single nucleotide variant | NM_002299.4(LCT):c.1569G>A (p.Ala523=) | not provided [RCV002132695] | likely benign | 2 | 135817479 | 135817479 | Human | | name |
| 152097331 | CV1587096 | single nucleotide variant | NM_002299.4(LCT):c.2751G>A (p.Gln917=) | not provided [RCV002078527] | likely benign | 2 | 135809596 | 135809596 | Human | | name |
| 152123458 | CV1587254 | single nucleotide variant | NM_002299.4(LCT):c.1788C>T (p.His596=) | not provided [RCV002136009] | likely benign | 2 | 135812876 | 135812876 | Human | | name |
| 152173306 | CV1589883 | single nucleotide variant | NM_002299.4(LCT):c.1053G>A (p.Thr351=) | not provided [RCV002184131] | likely benign | 2 | 135817995 | 135817995 | Human | | name |
| 152039187 | CV1592696 | single nucleotide variant | NM_002299.4(LCT):c.2187C>G (p.Pro729=) | not provided [RCV002187996] | likely benign | 2 | 135812477 | 135812477 | Human | | name |
| 152088891 | CV1603335 | single nucleotide variant | NM_002299.4(LCT):c.1992C>T (p.Pro664=) | not provided [RCV002077434] | likely benign | 2 | 135812672 | 135812672 | Human | | name |
| 152109090 | CV1623562 | single nucleotide variant | NM_002299.4(LCT):c.2079C>T (p.Asn693=) | not provided [RCV002215227] | likely benign | 2 | 135812585 | 135812585 | Human | | name |
| 152032605 | CV1629461 | single nucleotide variant | NM_002299.4(LCT):c.2436C>T (p.Ser812=) | not provided [RCV002106398] | likely benign | 2 | 135809911 | 135809911 | Human | | name |
| 152112636 | CV1640631 | single nucleotide variant | NM_002299.4(LCT):c.1254C>T (p.Asn418=) | not provided [RCV002174526] | likely benign | 2 | 135817794 | 135817794 | Human | | name |
| 152094342 | CV1648353 | single nucleotide variant | NM_002299.4(LCT):c.1014G>A (p.Leu338=) | not provided [RCV002114499] | likely benign | 2 | 135818034 | 135818034 | Human | | name |
| 152054851 | CV1648608 | single nucleotide variant | NM_002299.4(LCT):c.1629G>A (p.Pro543=) | not provided [RCV002072806] | likely benign | 2 | 135817419 | 135817419 | Human | | name |
| 152089901 | CV1654749 | single nucleotide variant | NM_002299.4(LCT):c.2592C>T (p.Pro864=) | not provided [RCV002212581] | likely benign | 2 | 135809755 | 135809755 | Human | | name |
| 156212131 | CV1909827 | single nucleotide variant | NM_002299.4(LCT):c.2700C>T (p.His900=) | not provided [RCV002596105] | likely benign | 2 | 135809647 | 135809647 | Human | | name |
| 156407965 | CV1911397 | single nucleotide variant | NM_002299.4(LCT):c.1188C>T (p.Asn396=) | not provided [RCV002607067] | likely benign | 2 | 135817860 | 135817860 | Human | | name |
| 156377270 | CV1913888 | single nucleotide variant | NM_002299.4(LCT):c.1272G>A (p.Ala424=) | not provided [RCV002603686] | likely benign | 2 | 135817776 | 135817776 | Human | | name |
| 156186156 | CV1919197 | single nucleotide variant | NM_002299.4(LCT):c.2730C>T (p.Gly910=) | not provided [RCV002595223] | likely benign | 2 | 135809617 | 135809617 | Human | | name |
| 156032778 | CV1921205 | single nucleotide variant | NM_002299.4(LCT):c.1917A>C (p.Gly639=) | not provided [RCV002619925] | likely benign | 2 | 135812747 | 135812747 | Human | | name |
| 156442550 | CV1938777 | single nucleotide variant | NM_002299.4(LCT):c.1752C>T (p.His584=) | not provided [RCV003112896] | likely benign | 2 | 135812912 | 135812912 | Human | | name |
| 156281232 | CV1964392 | single nucleotide variant | NM_002299.4(LCT):c.218C>T (p.Pro73Leu) | not provided [RCV002577484] | uncertain significance | 2 | 135836952 | 135836952 | Human | | name |
| 156072196 | CV1971957 | single nucleotide variant | NM_002299.4(LCT):c.2553G>A (p.Gly851=) | not provided [RCV002591305] | likely benign | 2 | 135809794 | 135809794 | Human | | name |
| 156411723 | CV1972612 | single nucleotide variant | NM_002299.4(LCT):c.1224G>A (p.Val408=) | not provided [RCV002587583] | likely benign | 2 | 135817824 | 135817824 | Human | | name |
| 156236231 | CV1972995 | single nucleotide variant | NM_002299.4(LCT):c.2100C>A (p.Ile700=) | not provided [RCV002596989] | likely benign | 2 | 135812564 | 135812564 | Human | | name |
| 156321715 | CV1976150 | single nucleotide variant | NM_002299.4(LCT):c.1221G>A (p.Gly407=) | not provided [RCV002600275] | likely benign | 2 | 135817827 | 135817827 | Human | | name |
| 155970593 | CV1978258 | single nucleotide variant | NM_002299.4(LCT):c.1281G>A (p.Glu427=) | not provided [RCV002617162] | likely benign | 2 | 135817767 | 135817767 | Human | | name |
| 156264118 | CV1993806 | single nucleotide variant | NM_002299.4(LCT):c.2247A>G (p.Pro749=) | not provided [RCV002646315] | likely benign | 2 | 135812417 | 135812417 | Human | | name |
| 156406039 | CV2004577 | single nucleotide variant | NM_002299.4(LCT):c.182T>C (p.Met61Thr) | not provided [RCV002658457] | uncertain significance | 2 | 135836988 | 135836988 | Human | | name |
| 156015178 | CV2010085 | single nucleotide variant | NM_002299.4(LCT):c.2847A>T (p.Gly949=) | not provided [RCV002735101] | likely benign | 2 | 135809500 | 135809500 | Human | | name |
| 155978994 | CV2028677 | single nucleotide variant | NM_002299.4(LCT):c.2415C>T (p.Phe805=) | not provided [RCV002755237] | likely benign | 2 | 135809932 | 135809932 | Human | | name |
| 155926436 | CV2070853 | single nucleotide variant | NM_002299.4(LCT):c.2475C>T (p.Ser825=) | not provided [RCV002838550] | likely benign | 2 | 135809872 | 135809872 | Human | | name |
| 155959056 | CV2087194 | single nucleotide variant | NM_002299.4(LCT):c.2679C>T (p.Phe893=) | not provided [RCV002862768] | likely benign | 2 | 135809668 | 135809668 | Human | | name |
| 156211905 | CV2087257 | single nucleotide variant | NM_002299.4(LCT):c.2979C>T (p.Asn993=) | not provided [RCV002852859] | likely benign | 2 | 135809368 | 135809368 | Human | | name |
| 156163349 | CV2096984 | single nucleotide variant | NM_002299.4(LCT):c.1608G>A (p.Leu536=) | not provided [RCV002872743] | likely benign | 2 | 135817440 | 135817440 | Human | | name |
| 156252509 | CV2098108 | single nucleotide variant | NM_002299.4(LCT):c.2469C>T (p.Ser823=) | not provided [RCV002895312] | likely benign | 2 | 135809878 | 135809878 | Human | | name |
| 156387450 | CV2122108 | single nucleotide variant | NM_002299.4(LCT):c.130A>G (p.Ser44Gly) | not provided [RCV002943595] | uncertain significance | 2 | 135837040 | 135837040 | Human | | name |
| 156195784 | CV2158864 | deletion | NM_002299.4(LCT):c.391del (p.Leu131fs) | not provided [RCV003041798] | pathogenic | 2 | 135836779 | 135836779 | Human | | name |
| 156078958 | CV2173683 | single nucleotide variant | NM_002299.4(LCT):c.2733G>A (p.Val911=) | not provided [RCV003053961] | likely benign | 2 | 135809614 | 135809614 | Human | | name |
| 156319854 | CV2182514 | single nucleotide variant | NM_002299.4(LCT):c.1419C>T (p.Gly473=) | not provided [RCV003046528] | likely benign | 2 | 135817629 | 135817629 | Human | | name |
| 11579682 | CV281878 | single nucleotide variant | NM_002299.4(LCT):c.2883C>T (p.Ala961=) | Congenital lactase deficiency [RCV000362588]|LCT-related disorder [RCV003910277]|Lactose intolerance [RCV000309819]|not provided [RCV001523430] | benign|likely benign|uncertain significance | 2 | 135809464 | 135809464 | Human | 3 | name , trait , alternate_id |
| 11577923 | CV281882 | single nucleotide variant | NM_002299.4(LCT):c.2763G>A (p.Ala921=) | Congenital lactase deficiency [RCV000323093]|Lactose intolerance [RCV000270319]|not provided [RCV000953444] | benign|uncertain significance | 2 | 135809584 | 135809584 | Human | 6 | name |
| 11577923 | CV281882 | single nucleotide variant | NM_002299.4(LCT):c.2763G>A (p.Ala921=) | Congenital lactase deficiency [RCV000323093]|Lactose intolerance [RCV000270319]|not provided [RCV000953444] | benign|uncertain significance | 2 | 135809584 | 135809585 | Human | 6 | name |
| 11581305 | CV281883 | single nucleotide variant | NM_002299.4(LCT):c.1461G>A (p.Ala487=) | Congenital lactase deficiency [RCV000364638]|Lactose intolerance [RCV000406168]|not provided [RCV001519714] | benign|uncertain significance | 2 | 135817587 | 135817587 | Human | 3 | name |
| 11581017 | CV282514 | single nucleotide variant | NM_002299.4(LCT):c.1902C>T (p.Pro634=) | Congenital lactase deficiency [RCV000392713]|LCT-related disorder [RCV003940326]|Lactose intolerance [RCV000352385]|not provided [RCV002057574] | likely benign|uncertain significance | 2 | 135812762 | 135812762 | Human | 3 | name , trait , alternate_id |
| 11579694 | CV284165 | single nucleotide variant | NM_002299.4(LCT):c.1650C>G (p.Gly550=) | Congenital lactase deficiency [RCV000392710]|Lactose intolerance [RCV000310026]|not provided [RCV001522566] | benign|likely benign | 2 | 135817398 | 135817398 | Human | 3 | name |
| 11579362 | CV284166 | single nucleotide variant | NM_002299.4(LCT):c.1419C>A (p.Gly473=) | Congenital lactase deficiency [RCV000361032]|Lactose intolerance [RCV000301721]|not provided [RCV001511197]|not specified [RCV001529740] | benign | 2 | 135817629 | 135817629 | Human | 3 | name |
| 11577648 | CV284384 | single nucleotide variant | NM_002299.4(LCT):c.2760C>T (p.Gly920=) | Congenital lactase deficiency [RCV000361518]|Lactose intolerance [RCV000264499]|not provided [RCV000899114] | benign|uncertain significance | 2 | 135809587 | 135809587 | Human | 3 | name |
| 11578473 | CV284388 | single nucleotide variant | NM_002299.4(LCT):c.2457C>T (p.His819=) | Congenital lactase deficiency [RCV000316257]|Lactose intolerance [RCV000282064]|not provided [RCV001512087] | benign|uncertain significance | 2 | 135809890 | 135809890 | Human | 3 | name |
| 405166305 | CV2857579 | single nucleotide variant | NM_002299.4(LCT):c.1614G>C (p.Val538=) | not provided [RCV003541813] | likely benign | 2 | 135817434 | 135817434 | Human | | name |
| 402511973 | CV2859475 | single nucleotide variant | NM_002299.4(LCT):c.1791G>T (p.Val597=) | not provided [RCV003575180] | likely benign | 2 | 135812873 | 135812873 | Human | | name |
| 402489862 | CV2867054 | single nucleotide variant | NM_002299.4(LCT):c.1872G>A (p.Leu624=) | not provided [RCV003544843] | likely benign | 2 | 135812792 | 135812792 | Human | | name |
| 405219595 | CV2870189 | single nucleotide variant | NM_002299.4(LCT):c.2449C>T (p.Leu817=) | not provided [RCV003553680] | likely benign | 2 | 135809898 | 135809898 | Human | | name |
| 402499092 | CV2871960 | single nucleotide variant | NM_002299.4(LCT):c.1623T>C (p.His541=) | not provided [RCV003545718] | likely benign | 2 | 135817425 | 135817425 | Human | | name |
| 405191960 | CV2872092 | single nucleotide variant | NM_002299.4(LCT):c.2440C>A (p.Arg814=) | not provided [RCV003550483] | likely benign | 2 | 135809907 | 135809907 | Human | | name |
| 405150497 | CV2888411 | single nucleotide variant | NM_002299.4(LCT):c.2910G>A (p.Lys970=) | not provided [RCV003561697] | likely benign | 2 | 135809437 | 135809437 | Human | | name |
| 402496958 | CV2896019 | single nucleotide variant | NM_002299.4(LCT):c.2221C>T (p.Leu741=) | not provided [RCV003573599] | likely benign | 2 | 135812443 | 135812443 | Human | | name |
| 405031046 | CV2922408 | single nucleotide variant | NM_002299.4(LCT):c.2763G>C (p.Ala921=) | not provided [RCV003578363] | likely benign | 2 | 135809584 | 135809584 | Human | | name |
| 405068623 | CV2924064 | single nucleotide variant | NM_002299.4(LCT):c.1512G>A (p.Leu504=) | not provided [RCV003580980] | likely benign | 2 | 135817536 | 135817536 | Human | | name |
| 405079704 | CV2945499 | single nucleotide variant | NM_002299.4(LCT):c.1257C>T (p.Thr419=) | not provided [RCV003664499] | likely benign | 2 | 135817791 | 135817791 | Human | | name |
| 402505515 | CV2947622 | single nucleotide variant | NM_002299.4(LCT):c.1849C>T (p.Leu617=) | not provided [RCV003662020] | likely benign | 2 | 135812815 | 135812815 | Human | | name |
| 405139538 | CV2970387 | single nucleotide variant | NM_002299.4(LCT):c.2091C>T (p.Asn697=) | not provided [RCV003669077] | likely benign | 2 | 135812573 | 135812573 | Human | | name |
| 405236391 | CV2973275 | single nucleotide variant | NM_002299.4(LCT):c.2556A>G (p.Ala852=) | not provided [RCV003683082] | likely benign | 2 | 135809791 | 135809791 | Human | | name |
| 405202488 | CV2989030 | single nucleotide variant | NM_002299.4(LCT):c.2682A>G (p.Glu894=) | not provided [RCV003678266] | likely benign | 2 | 135809665 | 135809665 | Human | | name |
| 402508931 | CV2998343 | single nucleotide variant | NM_002299.4(LCT):c.1995G>A (p.Glu665=) | not provided [RCV003689351] | likely benign | 2 | 135812669 | 135812669 | Human | | name |
| 405169216 | CV3029192 | single nucleotide variant | NM_002299.4(LCT):c.2772C>A (p.Ala924=) | not provided [RCV003704549] | likely benign | 2 | 135809575 | 135809575 | Human | | name |
| 402502502 | CV3032484 | single nucleotide variant | NM_002299.4(LCT):c.2856C>T (p.Ala952=) | not provided [RCV003714888] | likely benign | 2 | 135809491 | 135809491 | Human | | name |
| 405242533 | CV3042867 | single nucleotide variant | NM_002299.4(LCT):c.2025A>G (p.Lys675=) | not provided [RCV003719516] | likely benign | 2 | 135812639 | 135812639 | Human | | name |
| 405177627 | CV3049476 | single nucleotide variant | NM_002299.4(LCT):c.2433C>T (p.Tyr811=) | not provided [RCV003728410] | likely benign | 2 | 135809914 | 135809914 | Human | | name |
| 405241444 | CV3061057 | single nucleotide variant | NM_002299.4(LCT):c.2136C>T (p.His712=) | not provided [RCV003737299] | likely benign | 2 | 135812528 | 135812528 | Human | | name |
| 405149225 | CV3063523 | single nucleotide variant | NM_002299.4(LCT):c.1542C>T (p.Ser514=) | not provided [RCV003726294] | likely benign | 2 | 135817506 | 135817506 | Human | | name |
| 405228381 | CV3069664 | single nucleotide variant | NM_002299.4(LCT):c.1659C>T (p.Thr553=) | not provided [RCV003734330] | likely benign | 2 | 135817389 | 135817389 | Human | | name |
| 405180880 | CV3119897 | single nucleotide variant | NM_002299.4(LCT):c.1332C>T (p.Cys444=) | LCT-related disorder [RCV003893441]|not provided [RCV003819990] | likely benign | 2 | 135817716 | 135817716 | Human | 1 | name , trait , alternate_id |
| 405134858 | CV3133944 | single nucleotide variant | NM_002299.4(LCT):c.2544C>T (p.Leu848=) | not provided [RCV003838723] | likely benign | 2 | 135809803 | 135809803 | Human | | name |
| 405226188 | CV3142484 | single nucleotide variant | NM_002299.4(LCT):c.1350G>A (p.Val450=) | not provided [RCV003848023] | likely benign | 2 | 135817698 | 135817698 | Human | | name |
| 405227644 | CV3142866 | single nucleotide variant | NM_002299.4(LCT):c.2067C>T (p.Arg689=) | not provided [RCV003848209] | likely benign | 2 | 135812597 | 135812597 | Human | | name |
| 405148086 | CV3152157 | single nucleotide variant | NM_002299.4(LCT):c.1674C>T (p.Pro558=) | not provided [RCV003856128] | likely benign | 2 | 135817374 | 135817374 | Human | | name |
| 405231328 | CV3157380 | single nucleotide variant | NM_002299.4(LCT):c.1812C>T (p.Asp604=) | not provided [RCV003865330] | likely benign | 2 | 135812852 | 135812852 | Human | | name |
| 405157506 | CV3163569 | single nucleotide variant | NM_002299.4(LCT):c.1683T>G (p.Ser561=) | LCT-related disorder [RCV003966721]|not provided [RCV003856815] | likely benign | 2 | 135817365 | 135817365 | Human | 1 | name , trait , alternate_id |
| 405204270 | CV3165519 | single nucleotide variant | NM_002299.4(LCT):c.1791G>A (p.Val597=) | not provided [RCV003861185] | likely benign | 2 | 135812873 | 135812873 | Human | | name |
| 402486768 | CV3181839 | single nucleotide variant | NM_002299.4(LCT):c.1533G>A (p.Gln511=) | not provided [RCV003876508] | likely benign | 2 | 135817515 | 135817515 | Human | | name |
| 402492851 | CV3182639 | single nucleotide variant | NM_002299.4(LCT):c.2430T>C (p.Gly810=) | not provided [RCV003877126] | likely benign | 2 | 135809917 | 135809917 | Human | | name |
| 405293922 | CV3203265 | single nucleotide variant | NM_002299.4(LCT):c.2772C>T (p.Ala924=) | LCT-related disorder [RCV003933826] | likely benign | 2 | 135809575 | 135809575 | Human | | name , trait , alternate_id |
| 407491488 | CV3452563 | single nucleotide variant | NM_002299.4(LCT):c.212T>A (p.Phe71Tyr) | Inborn genetic diseases [RCV004642230]|not provided [RCV005059679] | uncertain significance | 2 | 135836958 | 135836958 | Human | 1 | name |
| 597914543 | CV3740645 | single nucleotide variant | NM_002299.4(LCT):c.2577T>C (p.Asn859=) | not provided [RCV005073982] | likely benign | 2 | 135809770 | 135809770 | Human | | name |
| 597929392 | CV3742073 | single nucleotide variant | NM_002299.4(LCT):c.2052G>A (p.Ser684=) | not provided [RCV005075705] | likely benign | 2 | 135812612 | 135812612 | Human | | name |
| 597894834 | CV3744125 | single nucleotide variant | NM_002299.4(LCT):c.1392G>T (p.Gly464=) | not provided [RCV005071595] | likely benign | 2 | 135817656 | 135817656 | Human | | name |
| 597862289 | CV3745186 | single nucleotide variant | NM_002299.4(LCT):c.1275G>C (p.Thr425=) | not provided [RCV005067542] | likely benign | 2 | 135817773 | 135817773 | Human | | name |
| 597928399 | CV3749131 | single nucleotide variant | NM_002299.4(LCT):c.1785G>A (p.Gly595=) | not provided [RCV005075587] | likely benign | 2 | 135812879 | 135812879 | Human | | name |
| 597918951 | CV3764915 | single nucleotide variant | NM_002299.4(LCT):c.1356G>A (p.Lys452=) | not provided [RCV005114930] | likely benign | 2 | 135817692 | 135817692 | Human | | name |
| 597862191 | CV3766462 | single nucleotide variant | NM_002299.4(LCT):c.1899C>T (p.His633=) | not provided [RCV005106187] | likely benign | 2 | 135812765 | 135812765 | Human | | name |
| 597945174 | CV3776797 | single nucleotide variant | NM_002299.4(LCT):c.1809A>C (p.Ser603=) | not provided [RCV005119653] | likely benign | 2 | 135812855 | 135812855 | Human | | name |
| 597906411 | CV3785177 | single nucleotide variant | NM_002299.4(LCT):c.2256T>G (p.Leu752=) | not provided [RCV005128020] | likely benign | 2 | 135812408 | 135812408 | Human | | name |
| 597883425 | CV3799492 | single nucleotide variant | NM_002299.4(LCT):c.1134G>T (p.Leu378=) | not provided [RCV005150159] | likely benign | 2 | 135817914 | 135817914 | Human | | name |
| 597869362 | CV3803475 | single nucleotide variant | NM_002299.4(LCT):c.1395C>T (p.His465=) | not provided [RCV005148072] | likely benign | 2 | 135817653 | 135817653 | Human | | name |
| 597902954 | CV3804475 | single nucleotide variant | NM_002299.4(LCT):c.1132C>T (p.Leu378=) | not provided [RCV005152910] | likely benign | 2 | 135817916 | 135817916 | Human | | name |
| 597936886 | CV3807735 | single nucleotide variant | NM_002299.4(LCT):c.2307C>T (p.Ser769=) | not provided [RCV005158114] | likely benign | 2 | 135812357 | 135812357 | Human | | name |
| 597943391 | CV3812301 | single nucleotide variant | NM_002299.4(LCT):c.2637G>A (p.Lys879=) | not provided [RCV005159511] | likely benign | 2 | 135809710 | 135809710 | Human | | name |
| 597966599 | CV3823829 | single nucleotide variant | NM_002299.4(LCT):c.1290C>T (p.Ser430=) | not provided [RCV005165249] | likely benign | 2 | 135817758 | 135817758 | Human | | name |
| 597965272 | CV3826848 | single nucleotide variant | NM_002299.4(LCT):c.2703G>A (p.Gly901=) | not provided [RCV005164877] | likely benign | 2 | 135809644 | 135809644 | Human | | name |
| 597961477 | CV3840743 | single nucleotide variant | NM_002299.4(LCT):c.1317C>T (p.Asp439=) | not provided [RCV005193036] | likely benign | 2 | 135817731 | 135817731 | Human | | name |
| 597935448 | CV3845242 | single nucleotide variant | NM_002299.4(LCT):c.1275G>A (p.Thr425=) | not provided [RCV005186555] | likely benign | 2 | 135817773 | 135817773 | Human | | name |
| 597950943 | CV3847065 | single nucleotide variant | NM_002299.4(LCT):c.2259C>T (p.Ala753=) | not provided [RCV005190237] | likely benign | 2 | 135812405 | 135812405 | Human | | name |
| 597944791 | CV3847971 | single nucleotide variant | NM_002299.4(LCT):c.1569G>C (p.Ala523=) | not provided [RCV005188701] | likely benign | 2 | 135817479 | 135817479 | Human | | name |
| 597949361 | CV3848897 | single nucleotide variant | NM_002299.4(LCT):c.2580A>G (p.Thr860=) | not provided [RCV005189835] | likely benign | 2 | 135809767 | 135809767 | Human | | name |
| 597859610 | CV3850353 | single nucleotide variant | NM_002299.4(LCT):c.2073C>A (p.Ile691=) | not provided [RCV005195686] | likely benign | 2 | 135812591 | 135812591 | Human | | name |
| 597918960 | CV3861628 | single nucleotide variant | NM_002299.4(LCT):c.181A>T (p.Met61Leu) | not provided [RCV005204784] | uncertain significance | 2 | 135836989 | 135836989 | Human | | name |
| 15162895 | CV732767 | single nucleotide variant | NM_002299.4(LCT):c.2706G>A (p.Thr902=) | Inborn genetic diseases [RCV004986685]|LCT-related disorder [RCV003923019]|not provided [RCV000903655] | benign|likely benign | 2 | 135809641 | 135809641 | Human | 2 | name , trait , alternate_id |
| 15128154 | CV732768 | single nucleotide variant | NM_002299.4(LCT):c.1206C>T (p.Ala402=) | not provided [RCV000897223] | benign | 2 | 135817842 | 135817842 | Human | | name |
| 15165554 | CV732769 | single nucleotide variant | NM_002299.4(LCT):c.1113G>A (p.Arg371=) | Congenital lactase deficiency [RCV001130289]|LCT-related disorder [RCV003932880]|not provided [RCV000904247] | likely benign|uncertain significance | 2 | 135817935 | 135817935 | Human | 1 | name , trait , alternate_id |
| 28869838 | CV881086 | single nucleotide variant | NM_002299.4(LCT):c.2898C>A (p.Leu966=) | Congenital lactase deficiency [RCV001130860]|not provided [RCV002070526] | likely benign|uncertain significance | 2 | 135809449 | 135809449 | Human | 1 | name |
| 28875251 | CV881088 | single nucleotide variant | NM_002299.4(LCT):c.2718C>T (p.Asp906=) | Congenital lactase deficiency [RCV001133830] | uncertain significance | 2 | 135809629 | 135809629 | Human | 1 | name |
| 28875256 | CV881090 | single nucleotide variant | NM_002299.4(LCT):c.2349C>T (p.Leu783=) | Congenital lactase deficiency [RCV001133832] | uncertain significance | 2 | 135812315 | 135812315 | Human | 1 | name |
| 28878853 | CV881094 | single nucleotide variant | NM_002299.4(LCT):c.1617C>T (p.Thr539=) | Congenital lactase deficiency [RCV001135327]|not provided [RCV002070580] | benign|likely benign | 2 | 135817431 | 135817431 | Human | 1 | name |
| 28868888 | CV881095 | single nucleotide variant | NM_002299.4(LCT):c.1539G>A (p.Glu513=) | Congenital lactase deficiency [RCV001130286]|not provided [RCV001520844] | benign|likely benign|uncertain significance | 2 | 135817509 | 135817509 | Human | 1 | name |
| 28868891 | CV881096 | single nucleotide variant | NM_002299.4(LCT):c.1116G>A (p.Ala372=) | Congenital lactase deficiency [RCV001130288]|not provided [RCV002558273] | likely benign|uncertain significance | 2 | 135817932 | 135817932 | Human | 1 | name |
| 28875512 | CV881101 | single nucleotide variant | NM_002299.4(LCT):c.280G>A (p.Ala94Thr) | Congenital lactase deficiency [RCV001133949]|not provided [RCV002556869] | uncertain significance | 2 | 135836890 | 135836890 | Human | 1 | name |
| 28879204 | CV881102 | single nucleotide variant | NM_002299.4(LCT):c.122A>C (p.His41Pro) | Congenital lactase deficiency [RCV001135456] | uncertain significance | 2 | 135837048 | 135837048 | Human | 1 | name |
| 127249452 | CV1067816 | single nucleotide variant | NM_002299.4(LCT):c.5037G>A (p.Gly1679=) | not provided [RCV001399602] | likely benign | 2 | 135794715 | 135794715 | Human | | name |
| 127278253 | CV1067817 | single nucleotide variant | NM_002299.4(LCT):c.4419C>T (p.Tyr1473=) | not provided [RCV001408378] | likely benign | 2 | 135804812 | 135804812 | Human | | name |
| 127262663 | CV1067818 | single nucleotide variant | NM_002299.4(LCT):c.4125A>T (p.Gly1375=) | not provided [RCV001402703] | likely benign | 2 | 135807176 | 135807176 | Human | | name |
| 127243046 | CV1067819 | single nucleotide variant | NM_002299.4(LCT):c.3747G>T (p.Ala1249=) | not provided [RCV001416055] | likely benign | 2 | 135808600 | 135808600 | Human | | name |
| 127274726 | CV1089543 | single nucleotide variant | NM_002299.4(LCT):c.4746C>T (p.Tyr1582=) | not provided [RCV001442957] | likely benign | 2 | 135800727 | 135800727 | Human | | name |
| 127321641 | CV1131954 | single nucleotide variant | NM_002299.4(LCT):c.5724C>A (p.Arg1908=) | not provided [RCV001504813] | likely benign | 2 | 135788384 | 135788384 | Human | | name |
| 127299429 | CV1131955 | single nucleotide variant | NM_002299.4(LCT):c.4104G>A (p.Arg1368=) | not provided [RCV001498297] | likely benign | 2 | 135807197 | 135807197 | Human | | name |
| 127312181 | CV1131956 | single nucleotide variant | NM_002299.4(LCT):c.3426C>T (p.Ala1142=) | not provided [RCV001501836] | likely benign | 2 | 135808921 | 135808921 | Human | | name |
| 127314299 | CV1153799 | single nucleotide variant | NM_002299.4(LCT):c.569C>T (p.Ser190Leu) | not provided [RCV001519563] | benign | 2 | 135836601 | 135836601 | Human | | name |
| 151830477 | CV1345231 | single nucleotide variant | NM_002299.4(LCT):c.935T>C (p.Ile312Thr) | Inborn genetic diseases [RCV002545860]|not provided [RCV001870484] | uncertain significance | 2 | 135822071 | 135822071 | Human | 1 | name |
| 151825440 | CV1350685 | single nucleotide variant | NM_002299.4(LCT):c.433G>A (p.Glu145Lys) | Inborn genetic diseases [RCV002555238]|not provided [RCV001901284] | uncertain significance | 2 | 135836737 | 135836737 | Human | 1 | name |
| 151846090 | CV1353643 | single nucleotide variant | NM_002299.4(LCT):c.412G>A (p.Ala138Thr) | not provided [RCV001957346] | uncertain significance | 2 | 135836758 | 135836758 | Human | | name |
| 151812617 | CV1359655 | single nucleotide variant | NM_002299.4(LCT):c.710C>T (p.Ala237Val) | not provided [RCV001991977] | uncertain significance | 2 | 135833121 | 135833121 | Human | | name |
| 151816438 | CV1378953 | single nucleotide variant | NM_002299.4(LCT):c.919G>A (p.Asp307Asn) | Inborn genetic diseases [RCV002552121]|not provided [RCV001900458] | uncertain significance | 2 | 135822087 | 135822087 | Human | 1 | name |
| 151844133 | CV1381354 | single nucleotide variant | NM_002299.4(LCT):c.5016C>T (p.Asn1672=) | not provided [RCV001881724] | likely benign | 2 | 135794736 | 135794736 | Human | | name |
| 151743862 | CV1398206 | single nucleotide variant | NM_002299.4(LCT):c.782G>A (p.Arg261Gln) | not provided [RCV002042512] | uncertain significance | 2 | 135829615 | 135829615 | Human | | name |
| 151831403 | CV1426632 | single nucleotide variant | NM_002299.4(LCT):c.318C>G (p.Asp106Glu) | Inborn genetic diseases [RCV003250372]|not provided [RCV001976688] | uncertain significance | 2 | 135836852 | 135836852 | Human | 1 | name |
| 151883162 | CV1443399 | single nucleotide variant | NM_002299.4(LCT):c.621C>A (p.His207Gln) | not provided [RCV002037286] | uncertain significance | 2 | 135836549 | 135836549 | Human | | name |
| 151824920 | CV1456578 | single nucleotide variant | NM_002299.4(LCT):c.809T>C (p.Ile270Thr) | not provided [RCV002050161] | uncertain significance | 2 | 135823999 | 135823999 | Human | | name |
| 151772447 | CV1458438 | single nucleotide variant | NM_002299.4(LCT):c.487G>A (p.Gly163Arg) | not provided [RCV002025489] | uncertain significance | 2 | 135836683 | 135836683 | Human | | name |
| 151823458 | CV1466286 | single nucleotide variant | NM_002299.4(LCT):c.383T>C (p.Met128Thr) | not provided [RCV001879439] | uncertain significance | 2 | 135836787 | 135836787 | Human | | name |
| 151870574 | CV1466531 | single nucleotide variant | NM_002299.4(LCT):c.948T>G (p.Ile316Met) | not provided [RCV001906423] | uncertain significance | 2 | 135822058 | 135822058 | Human | | name |
| 151877377 | CV1480941 | single nucleotide variant | NM_002299.4(LCT):c.341G>A (p.Arg114Gln) | not provided [RCV001982073] | uncertain significance | 2 | 135836829 | 135836829 | Human | | name |
| 151803739 | CV1492046 | single nucleotide variant | NM_002299.4(LCT):c.473C>T (p.Ala158Val) | not provided [RCV002048215] | uncertain significance | 2 | 135836697 | 135836697 | Human | | name |
| 151761787 | CV1496489 | single nucleotide variant | NM_002299.4(LCT):c.425G>A (p.Arg142Gln) | not provided [RCV001895410] | uncertain significance | 2 | 135836745 | 135836745 | Human | | name |
| 151864423 | CV1498750 | single nucleotide variant | NM_002299.4(LCT):c.396C>G (p.His132Gln) | not provided [RCV001980541] | uncertain significance | 2 | 135836774 | 135836774 | Human | | name |
| 151745160 | CV1507586 | single nucleotide variant | NM_002299.4(LCT):c.847C>T (p.Leu283Phe) | not provided [RCV001985649] | uncertain significance | 2 | 135823961 | 135823961 | Human | | name |
| 152025741 | CV1527945 | single nucleotide variant | NM_002299.4(LCT):c.5664T>C (p.Phe1888=) | not provided [RCV002084564] | likely benign | 2 | 135788444 | 135788444 | Human | | name |
| 152169835 | CV1529377 | single nucleotide variant | NM_002299.4(LCT):c.5007G>A (p.Arg1669=) | not provided [RCV002161573] | likely benign | 2 | 135794745 | 135794745 | Human | | name |
| 152095880 | CV1534140 | single nucleotide variant | NM_002299.4(LCT):c.3672C>A (p.Pro1224=) | not provided [RCV002151198] | likely benign | 2 | 135808675 | 135808675 | Human | | name |
| 152042671 | CV1538039 | single nucleotide variant | NM_002299.4(LCT):c.3018C>A (p.Gly1006=) | not provided [RCV002165893] | likely benign | 2 | 135809329 | 135809329 | Human | | name |
| 152173405 | CV1539403 | single nucleotide variant | NM_002299.4(LCT):c.3747G>A (p.Ala1249=) | not provided [RCV002162799] | likely benign | 2 | 135808600 | 135808600 | Human | | name |
| 152033186 | CV1542624 | single nucleotide variant | NM_002299.4(LCT):c.5250T>C (p.Asn1750=) | not provided [RCV002106520] | likely benign | 2 | 135790743 | 135790743 | Human | | name |
| 152033953 | CV1542808 | single nucleotide variant | NM_002299.4(LCT):c.3930T>C (p.Leu1310=) | not provided [RCV002106661] | likely benign | 2 | 135807371 | 135807371 | Human | | name |
| 152110181 | CV1551085 | single nucleotide variant | NM_002299.4(LCT):c.3135C>T (p.Tyr1045=) | not provided [RCV002152948] | likely benign | 2 | 135809212 | 135809212 | Human | | name |
| 152125341 | CV1554043 | single nucleotide variant | NM_002299.4(LCT):c.3816C>T (p.Thr1272=) | not provided [RCV002098739] | likely benign | 2 | 135808531 | 135808531 | Human | | name |
| 152077362 | CV1564666 | single nucleotide variant | NM_002299.4(LCT):c.3624G>A (p.Thr1208=) | not provided [RCV002192591] | likely benign | 2 | 135808723 | 135808723 | Human | | name |
| 152083192 | CV1565210 | single nucleotide variant | NM_002299.4(LCT):c.4449C>T (p.Ala1483=) | not provided [RCV002093124] | likely benign | 2 | 135804782 | 135804782 | Human | | name |
| 152029595 | CV1568556 | single nucleotide variant | NM_002299.4(LCT):c.5484G>A (p.Ala1828=) | not provided [RCV002186217] | likely benign | 2 | 135789650 | 135789650 | Human | | name |
| 152103413 | CV1569473 | single nucleotide variant | NM_002299.4(LCT):c.3105T>C (p.Asn1035=) | not provided [RCV002115643] | likely benign | 2 | 135809242 | 135809242 | Human | | name |
| 152105858 | CV1572621 | single nucleotide variant | NM_002299.4(LCT):c.3081C>G (p.Leu1027=) | not provided [RCV002152388] | likely benign | 2 | 135809266 | 135809266 | Human | | name |
| 152068436 | CV1573714 | single nucleotide variant | NM_002299.4(LCT):c.3363G>T (p.Ser1121=) | not provided [RCV002147745] | likely benign | 2 | 135808984 | 135808984 | Human | | name |
| 152153110 | CV1579240 | single nucleotide variant | NM_002299.4(LCT):c.5589G>C (p.Val1863=) | not provided [RCV002158484] | likely benign | 2 | 135788519 | 135788519 | Human | | name |
| 152141400 | CV1583241 | single nucleotide variant | NM_002299.4(LCT):c.5769G>A (p.Pro1923=) | not provided [RCV002120423] | likely benign | 2 | 135788339 | 135788339 | Human | | name |
| 152129082 | CV1584248 | single nucleotide variant | NM_002299.4(LCT):c.3552C>A (p.Ser1184=) | not provided [RCV002082620] | likely benign | 2 | 135808795 | 135808795 | Human | | name |
| 152069903 | CV1589275 | single nucleotide variant | NM_002299.4(LCT):c.5505C>T (p.Val1835=) | not provided [RCV002209841] | likely benign | 2 | 135789629 | 135789629 | Human | | name |
| 152153219 | CV1592025 | single nucleotide variant | NM_002299.4(LCT):c.3102G>A (p.Glu1034=) | not provided [RCV002102554] | likely benign | 2 | 135809245 | 135809245 | Human | | name |
| 152096804 | CV1597544 | single nucleotide variant | NM_002299.4(LCT):c.4932G>A (p.Thr1644=) | not provided [RCV002114801] | likely benign | 2 | 135798073 | 135798073 | Human | | name |
| 152053019 | CV1607326 | single nucleotide variant | NM_002299.4(LCT):c.3600G>A (p.Thr1200=) | not provided [RCV002109213] | likely benign | 2 | 135808747 | 135808747 | Human | | name |
| 152141134 | CV1619743 | single nucleotide variant | NM_002299.4(LCT):c.4086C>T (p.Asn1362=) | not provided [RCV002200590] | likely benign | 2 | 135807215 | 135807215 | Human | | name |
| 152155789 | CV1620643 | single nucleotide variant | NM_002299.4(LCT):c.3678C>T (p.Tyr1226=) | not provided [RCV002122396] | likely benign | 2 | 135808669 | 135808669 | Human | | name |
| 152077393 | CV1632877 | single nucleotide variant | NM_002299.4(LCT):c.5586C>T (p.Pro1862=) | not provided [RCV002170104] | likely benign | 2 | 135788522 | 135788522 | Human | | name |
| 152070985 | CV1638697 | single nucleotide variant | NM_002299.4(LCT):c.3738C>T (p.Asn1246=) | not provided [RCV002075099] | likely benign | 2 | 135808609 | 135808609 | Human | | name |
| 152172767 | CV1641727 | single nucleotide variant | NM_002299.4(LCT):c.5739A>G (p.Lys1913=) | not provided [RCV002183952] | benign | 2 | 135788369 | 135788369 | Human | | name |
| 152085188 | CV1642515 | single nucleotide variant | NM_002299.4(LCT):c.5619A>G (p.Leu1873=) | not provided [RCV002193541] | likely benign | 2 | 135788489 | 135788489 | Human | | name |
| 152102485 | CV1646820 | single nucleotide variant | NM_002299.4(LCT):c.3282C>A (p.Ala1094=) | not provided [RCV002151976] | likely benign | 2 | 135809065 | 135809065 | Human | | name |
| 152058175 | CV1651969 | single nucleotide variant | NM_002299.4(LCT):c.5346C>T (p.Asp1782=) | LCT-related disorder [RCV003950921]|not provided [RCV002190217] | likely benign | 2 | 135789788 | 135789788 | Human | 1 | name , trait , alternate_id |
| 152142736 | CV1654434 | single nucleotide variant | NM_002299.4(LCT):c.5280C>T (p.Leu1760=) | not provided [RCV002200786] | likely benign | 2 | 135790713 | 135790713 | Human | | name |
| 152138228 | CV1657803 | single nucleotide variant | NM_002299.4(LCT):c.5673G>A (p.Val1891=) | not provided [RCV002177704] | likely benign | 2 | 135788435 | 135788435 | Human | | name |
| 152151780 | CV1658910 | single nucleotide variant | NM_002299.4(LCT):c.4647C>T (p.Tyr1549=) | not provided [RCV002139626] | likely benign | 2 | 135803946 | 135803946 | Human | | name |
| 152131844 | CV1660418 | single nucleotide variant | NM_002299.4(LCT):c.5028C>T (p.Asp1676=) | not provided [RCV002176903] | likely benign | 2 | 135794724 | 135794724 | Human | | name |
| 152084745 | CV1663085 | single nucleotide variant | NM_002299.4(LCT):c.4164T>G (p.Ala1388=) | not provided [RCV002171013] | likely benign | 2 | 135807137 | 135807137 | Human | | name |
| 152066335 | CV1664123 | single nucleotide variant | NM_002299.4(LCT):c.3282C>T (p.Ala1094=) | not provided [RCV002074502] | likely benign | 2 | 135809065 | 135809065 | Human | | name |
| 156384785 | CV1883588 | single nucleotide variant | NM_002299.4(LCT):c.3363G>A (p.Ser1121=) | not provided [RCV003093582] | likely benign | 2 | 135808984 | 135808984 | Human | | name |
| 156368637 | CV1887779 | single nucleotide variant | NM_002299.4(LCT):c.4053C>T (p.Ser1351=) | not provided [RCV003092245] | likely benign | 2 | 135807248 | 135807248 | Human | | name |
| 156306774 | CV1898700 | single nucleotide variant | NM_002299.4(LCT):c.781C>T (p.Arg261Trp) | Inborn genetic diseases [RCV004073110]|not provided [RCV003088218] | uncertain significance | 2 | 135829616 | 135829616 | Human | 1 | name |
| 155959765 | CV1900241 | single nucleotide variant | NM_002299.4(LCT):c.5175G>A (p.Thr1725=) | not provided [RCV003095782] | likely benign | 2 | 135790818 | 135790818 | Human | | name |
| 156210310 | CV1909705 | single nucleotide variant | NM_002299.4(LCT):c.4749C>T (p.Asn1583=) | not provided [RCV002596037] | likely benign | 2 | 135800724 | 135800724 | Human | | name |
| 156021105 | CV1911443 | single nucleotide variant | NM_002299.4(LCT):c.3060T>C (p.His1020=) | not provided [RCV002636712] | likely benign | 2 | 135809287 | 135809287 | Human | | name |
| 155958610 | CV1911923 | single nucleotide variant | NM_002299.4(LCT):c.5625C>T (p.Leu1875=) | not provided [RCV002616618] | likely benign | 2 | 135788483 | 135788483 | Human | | name |
| 156417360 | CV1913387 | single nucleotide variant | NM_002299.4(LCT):c.4500C>G (p.Leu1500=) | not provided [RCV002610676] | likely benign | 2 | 135804093 | 135804093 | Human | | name |
| 156301101 | CV1916100 | single nucleotide variant | NM_002299.4(LCT):c.566C>T (p.Ala189Val) | not provided [RCV002599175] | uncertain significance | 2 | 135836604 | 135836604 | Human | | name |
| 156418670 | CV1922473 | single nucleotide variant | NM_002299.4(LCT):c.914A>G (p.Asn305Ser) | Inborn genetic diseases [RCV002611871]|not provided [RCV002611870] | uncertain significance | 2 | 135822092 | 135822092 | Human | 1 | name |
| 156065138 | CV1927802 | single nucleotide variant | NM_002299.4(LCT):c.5544C>T (p.His1848=) | not provided [RCV002638416] | likely benign | 2 | 135789590 | 135789590 | Human | | name |
| 156449248 | CV1944512 | single nucleotide variant | NM_002299.4(LCT):c.3849G>A (p.Thr1283=) | not provided [RCV003121363] | likely benign | 2 | 135808498 | 135808498 | Human | | name |
| 156442737 | CV1948845 | single nucleotide variant | NM_002299.4(LCT):c.5382G>A (p.Ala1794=) | not provided [RCV003113089] | likely benign | 2 | 135789752 | 135789752 | Human | | name |
| 156171278 | CV1956286 | single nucleotide variant | NM_002299.4(LCT):c.3822C>T (p.Asn1274=) | not provided [RCV002573818] | likely benign | 2 | 135808525 | 135808525 | Human | | name |
| 156408291 | CV1957791 | single nucleotide variant | NM_002299.4(LCT):c.3606C>T (p.Asp1202=) | not provided [RCV002586476] | likely benign | 2 | 135808741 | 135808741 | Human | | name |
| 156290323 | CV1961460 | single nucleotide variant | NM_002299.4(LCT):c.5748A>C (p.Arg1916=) | not provided [RCV002577803] | likely benign | 2 | 135788360 | 135788360 | Human | | name |
| 156182495 | CV1963059 | single nucleotide variant | NM_002299.4(LCT):c.4389G>A (p.Arg1463=) | not provided [RCV002574158] | likely benign | 2 | 135804842 | 135804842 | Human | | name |
| 156380009 | CV1968476 | single nucleotide variant | NM_002299.4(LCT):c.4128G>A (p.Arg1376=) | not provided [RCV002603898] | likely benign | 2 | 135807173 | 135807173 | Human | | name |
| 156073672 | CV1969017 | single nucleotide variant | NM_002299.4(LCT):c.3717G>A (p.Ser1239=) | not provided [RCV002621321] | likely benign | 2 | 135808630 | 135808630 | Human | | name |
| 156412028 | CV1969128 | single nucleotide variant | NM_002299.4(LCT):c.3624G>T (p.Thr1208=) | not provided [RCV002587682] | likely benign | 2 | 135808723 | 135808723 | Human | | name |
| 156338752 | CV1973952 | single nucleotide variant | NM_002299.4(LCT):c.3364C>T (p.Leu1122=) | not provided [RCV002601168] | likely benign | 2 | 135808983 | 135808983 | Human | | name |
| 156411379 | CV1976261 | single nucleotide variant | NM_002299.4(LCT):c.4299T>C (p.Ala1433=) | not provided [RCV002587471] | likely benign | 2 | 135804932 | 135804932 | Human | | name |
| 156388615 | CV1996017 | single nucleotide variant | NM_002299.4(LCT):c.925G>A (p.Val309Met) | Inborn genetic diseases [RCV004066818]|not provided [RCV002654182] | uncertain significance | 2 | 135822081 | 135822081 | Human | 1 | name |
| 156209112 | CV2000837 | single nucleotide variant | NM_002299.4(LCT):c.988A>G (p.Met330Val) | not provided [RCV002666777] | uncertain significance | 2 | 135818060 | 135818060 | Human | | name |
| 156405803 | CV2004471 | single nucleotide variant | NM_002299.4(LCT):c.472G>A (p.Ala158Thr) | not provided [RCV002658401] | uncertain significance | 2 | 135836698 | 135836698 | Human | | name |
| 156051977 | CV2006810 | single nucleotide variant | NM_002299.4(LCT):c.604G>T (p.Ala202Ser) | not provided [RCV002659396] | uncertain significance | 2 | 135836566 | 135836566 | Human | | name |
| 156287572 | CV2012905 | single nucleotide variant | NM_002299.4(LCT):c.571C>G (p.Gln191Glu) | not provided [RCV002715523] | uncertain significance | 2 | 135836599 | 135836599 | Human | | name |
| 156358105 | CV2020244 | single nucleotide variant | NM_002299.4(LCT):c.3801C>T (p.Ile1267=) | not provided [RCV002720673] | likely benign | 2 | 135808546 | 135808546 | Human | | name |
| 155914236 | CV2021907 | single nucleotide variant | NM_002299.4(LCT):c.745G>A (p.Asp249Asn) | Inborn genetic diseases [RCV002727028]|not provided [RCV002727027] | uncertain significance | 2 | 135829652 | 135829652 | Human | 1 | name |
| 155945355 | CV2032680 | single nucleotide variant | NM_002299.4(LCT):c.649C>T (p.Leu217Phe) | not provided [RCV002730369] | uncertain significance | 2 | 135833182 | 135833182 | Human | | name |
| 156233098 | CV2039933 | single nucleotide variant | NM_002299.4(LCT):c.683A>G (p.Glu228Gly) | not provided [RCV002805389] | uncertain significance | 2 | 135833148 | 135833148 | Human | | name |
| 156015694 | CV2046628 | single nucleotide variant | NM_002299.4(LCT):c.665G>A (p.Arg222Gln) | not provided [RCV002756924] | uncertain significance | 2 | 135833166 | 135833166 | Human | | name |
| 156245074 | CV2053287 | single nucleotide variant | NM_002299.4(LCT):c.4887A>C (p.Ala1629=) | not provided [RCV002791492] | likely benign | 2 | 135798118 | 135798118 | Human | | name |
| 156325363 | CV2068515 | single nucleotide variant | NM_002299.4(LCT):c.4065C>T (p.Tyr1355=) | not provided [RCV002834982] | likely benign | 2 | 135807236 | 135807236 | Human | | name |
| 156150623 | CV2070248 | single nucleotide variant | NM_002299.4(LCT):c.5187C>T (p.Phe1729=) | not provided [RCV002850857] | uncertain significance | 2 | 135790806 | 135790806 | Human | | name |
| 156009429 | CV2083253 | single nucleotide variant | NM_002299.4(LCT):c.3240C>G (p.Pro1080=) | not provided [RCV002866022] | likely benign | 2 | 135809107 | 135809107 | Human | | name |
| 156044733 | CV2093232 | single nucleotide variant | NM_002299.4(LCT):c.4185G>T (p.Ala1395=) | not provided [RCV002867576] | likely benign | 2 | 135805046 | 135805046 | Human | | name |
| 155977655 | CV2100176 | single nucleotide variant | NM_002299.4(LCT):c.4380A>T (p.Gly1460=) | not provided [RCV002881779] | likely benign | 2 | 135804851 | 135804851 | Human | | name |
| 156003465 | CV2103477 | single nucleotide variant | NM_002299.4(LCT):c.5175G>C (p.Thr1725=) | not provided [RCV002908744] | uncertain significance | 2 | 135790818 | 135790818 | Human | | name |
| 156106261 | CV2108004 | single nucleotide variant | NM_002299.4(LCT):c.553C>T (p.Gln185Ter) | not provided [RCV002927235] | pathogenic | 2 | 135836617 | 135836617 | Human | | name |
| 156132638 | CV2109180 | single nucleotide variant | NM_002299.4(LCT):c.4486C>T (p.Leu1496=) | not provided [RCV002914611] | likely benign | 2 | 135804107 | 135804107 | Human | | name |
| 155943230 | CV2143112 | single nucleotide variant | NM_002299.4(LCT):c.4446C>A (p.Ala1482=) | not provided [RCV002994189] | likely benign | 2 | 135804785 | 135804785 | Human | | name |
| 156227234 | CV2145968 | single nucleotide variant | NM_002299.4(LCT):c.5061C>T (p.Leu1687=) | not provided [RCV003025508] | likely benign | 2 | 135794691 | 135794691 | Human | | name |
| 8559427 | CV21627 | single nucleotide variant | NM_002299.4(LCT):c.804G>C (p.Gln268His) | Congenital lactase deficiency [RCV000006966] | pathogenic | 2 | 135829593 | 135829593 | Human | 1 | name |
| 156310378 | CV2164021 | single nucleotide variant | NM_002299.4(LCT):c.3177T>C (p.Phe1059=) | not provided [RCV003045995] | likely benign | 2 | 135809170 | 135809170 | Human | | name |
| 156105122 | CV2164636 | single nucleotide variant | NM_002299.4(LCT):c.5052C>T (p.Thr1684=) | not provided [RCV003038727] | likely benign | 2 | 135794700 | 135794700 | Human | | name |
| 156321779 | CV2166616 | single nucleotide variant | NM_002299.4(LCT):c.422T>C (p.Leu141Pro) | not provided [RCV003029215] | uncertain significance | 2 | 135836748 | 135836748 | Human | | name |
| 156199267 | CV2169657 | single nucleotide variant | NM_002299.4(LCT):c.869T>C (p.Met290Thr) | not provided [RCV003041913] | uncertain significance | 2 | 135823939 | 135823939 | Human | | name |
| 156171628 | CV2169946 | single nucleotide variant | NM_002299.4(LCT):c.5511C>T (p.Cys1837=) | not provided [RCV003023531] | likely benign | 2 | 135789623 | 135789623 | Human | | name |
| 156343070 | CV2186045 | single nucleotide variant | NM_002299.4(LCT):c.493C>G (p.Leu165Val) | not provided [RCV003047850] | uncertain significance | 2 | 135836677 | 135836677 | Human | | name |
| 156045659 | CV2186428 | single nucleotide variant | NM_002299.4(LCT):c.4341C>T (p.Tyr1447=) | not provided [RCV003036731] | likely benign | 2 | 135804890 | 135804890 | Human | | name |
| 156170417 | CV2296810 | single nucleotide variant | NM_002299.4(LCT):c.443C>G (p.Ala148Gly) | Inborn genetic diseases [RCV002891370] | uncertain significance | 2 | 135836727 | 135836727 | Human | 1 | name |
| 156091294 | CV2300038 | single nucleotide variant | NM_002299.4(LCT):c.689T>C (p.Leu230Pro) | Inborn genetic diseases [RCV002869841] | uncertain significance | 2 | 135833142 | 135833142 | Human | 1 | name |
| 155921791 | CV2340512 | single nucleotide variant | NM_002299.4(LCT):c.457G>A (p.Asp153Asn) | Inborn genetic diseases [RCV002969496] | uncertain significance | 2 | 135836713 | 135836713 | Human | 1 | name |
| 329371163 | CV2461968 | single nucleotide variant | NM_002299.4(LCT):c.658G>A (p.Val220Ile) | Inborn genetic diseases [RCV003209652] | uncertain significance | 2 | 135833173 | 135833173 | Human | 1 | name |
| 401936205 | CV2802838 | deletion | NM_002299.4(LCT):c.2214del (p.Phe738fs) | LCT-related disorder [RCV003414182] | likely pathogenic | 2 | 135812450 | 135812450 | Human | | name , trait , alternate_id |
| 11579994 | CV281847 | single nucleotide variant | NM_002299.4(LCT):c.5529C>T (p.Pro1843=) | Congenital lactase deficiency [RCV000319428]|Lactose intolerance [RCV000371800]|not provided [RCV002521288] | likely benign|uncertain significance | 2 | 135789605 | 135789605 | Human | 3 | name |
| 11652330 | CV281858 | single nucleotide variant | NM_002299.4(LCT):c.4695C>T (p.Tyr1565=) | Congenital lactase deficiency [RCV000402802]|Lactose intolerance [RCV000304192]|not provided [RCV005090516] | likely benign|uncertain significance | 2 | 135800778 | 135800778 | Human | 3 | name |
| 11579414 | CV281859 | single nucleotide variant | NM_002299.4(LCT):c.4606C>T (p.Leu1536=) | Congenital lactase deficiency [RCV000303180]|Lactose intolerance [RCV000357102]|not provided [RCV001511196]|not specified [RCV001529341] | benign | 2 | 135803987 | 135803987 | Human | 6 | name |
| 11579414 | CV281859 | single nucleotide variant | NM_002299.4(LCT):c.4606C>T (p.Leu1536=) | Congenital lactase deficiency [RCV000303180]|Lactose intolerance [RCV000357102]|not provided [RCV001511196]|not specified [RCV001529341] | benign | 2 | 135803987 | 135803988 | Human | 6 | name |
| 11580334 | CV281860 | single nucleotide variant | NM_002299.4(LCT):c.4347T>C (p.Phe1449=) | Congenital lactase deficiency [RCV000330316]|LCT-related disorder [RCV003922416]|Lactose intolerance [RCV000387278]|not provided [RCV000952824] | benign|uncertain significance | 2 | 135804884 | 135804884 | Human | 3 | name , trait , alternate_id |
| 11579724 | CV281872 | single nucleotide variant | NM_002299.4(LCT):c.3285C>T (p.His1095=) | Congenital lactase deficiency [RCV000310977]|Lactose intolerance [RCV000392208]|not provided [RCV001484700] | likely benign|uncertain significance | 2 | 135809062 | 135809062 | Human | 3 | name |
| 11581395 | CV281877 | single nucleotide variant | NM_002299.4(LCT):c.3006G>A (p.Arg1002=) | Congenital lactase deficiency [RCV000404670]|LCT-related disorder [RCV003922418]|Lactose intolerance [RCV000368031]|not provided [RCV001511576] | benign|uncertain significance | 2 | 135809341 | 135809341 | Human | 3 | name , trait , alternate_id |
| 11578754 | CV281884 | single nucleotide variant | NM_002299.4(LCT):c.655G>A (p.Val219Ile) | Congenital lactase deficiency [RCV000382944]|Lactose intolerance [RCV000288474]|not provided [RCV001509608]|not specified [RCV001701856] | benign | 2 | 135833176 | 135833176 | Human | 3 | name |
| 11658313 | CV281888 | single nucleotide variant | NM_002299.4(LCT):c.643G>A (p.Gly215Arg) | Congenital lactase deficiency [RCV000348144]|Inborn genetic diseases [RCV002521294]|Lactose intolerance [RCV000383655]|not provided [RCV002521293] | uncertain significance | 2 | 135833188 | 135833188 | Human | 4 | name |
| 11577421 | CV282508 | single nucleotide variant | NM_002299.4(LCT):c.4576C>T (p.Leu1526=) | Congenital lactase deficiency [RCV000259920]|LCT-related disorder [RCV003910275]|Lactose intolerance [RCV000317377]|not provided [RCV000894919] | benign|likely benign|uncertain significance | 2 | 135804017 | 135804017 | Human | 3 | name , trait , alternate_id |
| 11578260 | CV282509 | single nucleotide variant | NM_002299.4(LCT):c.4434T>C (p.Asp1478=) | Congenital lactase deficiency [RCV000388253]|Lactose intolerance [RCV000277663]|not provided [RCV003765915] | likely benign|uncertain significance | 2 | 135804797 | 135804797 | Human | 3 | name |
| 11578406 | CV284145 | single nucleotide variant | NM_002299.4(LCT):c.5568T>C (p.Ala1856=) | Congenital lactase deficiency [RCV000280698]|Lactose intolerance [RCV000378034]|not provided [RCV001511194]|not specified [RCV001528499] | benign | 2 | 135788540 | 135788540 | Human | 3 | name |
| 11578866 | CV284151 | single nucleotide variant | NM_002299.4(LCT):c.4329C>T (p.Gly1443=) | Congenital lactase deficiency [RCV000290653]|Lactose intolerance [RCV000347971]|not provided [RCV001520902] | benign | 2 | 135804902 | 135804902 | Human | 3 | name |
| 11579360 | CV284152 | single nucleotide variant | NM_002299.4(LCT):c.4122C>T (p.Tyr1374=) | Congenital lactase deficiency [RCV000340089]|Lactose intolerance [RCV000301657]|not provided [RCV002057572] | benign|uncertain significance | 2 | 135807179 | 135807179 | Human | 3 | name |
| 11579342 | CV284154 | single nucleotide variant | NM_002299.4(LCT):c.4026G>A (p.Thr1342=) | Congenital lactase deficiency [RCV000301430]|LCT-related disorder [RCV003957705]|Lactose intolerance [RCV000403255]|not provided [RCV000950381] | benign|likely benign|uncertain significance | 2 | 135807275 | 135807275 | Human | 3 | name , trait , alternate_id |
| 11578110 | CV284157 | single nucleotide variant | NM_002299.4(LCT):c.3759G>A (p.Thr1253=) | Congenital lactase deficiency [RCV000274448]|Lactose intolerance [RCV000331835]|not provided [RCV002057573] | likely benign|uncertain significance | 2 | 135808588 | 135808588 | Human | 3 | name |
| 11580528 | CV284168 | single nucleotide variant | NM_002299.4(LCT):c.454G>A (p.Ala152Thr) | Congenital lactase deficiency [RCV000336201]|Lactose intolerance [RCV000403725]|not provided [RCV000967966] | benign|likely benign | 2 | 135836716 | 135836716 | Human | 3 | name |
| 11579341 | CV284181 | single nucleotide variant | NM_002299.4(LCT):c.319G>A (p.Glu107Lys) | Congenital lactase deficiency [RCV000355458]|Lactose intolerance [RCV000301253]|not provided [RCV002521295] | uncertain significance | 2 | 135836851 | 135836851 | Human | 3 | name |
| 11578341 | CV284373 | single nucleotide variant | NM_002299.4(LCT):c.5493C>T (p.Tyr1831=) | Congenital lactase deficiency [RCV000350696]|Lactose intolerance [RCV000279373]|not provided [RCV002057571] | likely benign|uncertain significance | 2 | 135789641 | 135789641 | Human | 3 | name |
| 11578763 | CV284374 | single nucleotide variant | NM_002299.4(LCT):c.4239A>G (p.Pro1413=) | Congenital lactase deficiency [RCV000288789]|Lactose intolerance [RCV000381588] | uncertain significance | 2 | 135804992 | 135804992 | Human | 3 | name |
| 11649196 | CV284379 | single nucleotide variant | NM_002299.4(LCT):c.3532C>T (p.Leu1178=) | Congenital lactase deficiency [RCV000285773]|Lactose intolerance [RCV000343179]|not provided [RCV002521289] | likely benign|uncertain significance | 2 | 135808815 | 135808815 | Human | 3 | name |
| 11648985 | CV284380 | single nucleotide variant | NM_002299.4(LCT):c.3390G>A (p.Glu1130=) | Congenital lactase deficiency [RCV000284711]|Lactose intolerance [RCV000376775] | uncertain significance | 2 | 135808957 | 135808957 | Human | 3 | name |
| 402480861 | CV2864100 | single nucleotide variant | NM_002299.4(LCT):c.4353C>T (p.Ile1451=) | not provided [RCV003544010] | likely benign | 2 | 135804878 | 135804878 | Human | | name |
| 405227920 | CV2894420 | single nucleotide variant | NM_002299.4(LCT):c.4902G>A (p.Lys1634=) | not provided [RCV003554995] | likely benign | 2 | 135798103 | 135798103 | Human | | name |
| 405233149 | CV2906670 | single nucleotide variant | NM_002299.4(LCT):c.4254C>T (p.Asn1418=) | not provided [RCV003555839] | likely benign | 2 | 135804977 | 135804977 | Human | | name |
| 405215519 | CV2911184 | single nucleotide variant | NM_002299.4(LCT):c.3750C>G (p.Pro1250=) | not provided [RCV003567731] | likely benign | 2 | 135808597 | 135808597 | Human | | name |
| 402471714 | CV2912007 | single nucleotide variant | NM_002299.4(LCT):c.4068A>G (p.Thr1356=) | not provided [RCV003570637] | likely benign | 2 | 135807233 | 135807233 | Human | | name |
| 405012710 | CV2933967 | single nucleotide variant | NM_002299.4(LCT):c.5598G>A (p.Glu1866=) | not provided [RCV003576874] | likely benign | 2 | 135788510 | 135788510 | Human | | name |
| 405100268 | CV2944146 | single nucleotide variant | NM_002299.4(LCT):c.4407C>T (p.Gly1469=) | not provided [RCV003665688] | likely benign | 2 | 135804824 | 135804824 | Human | | name |
| 405076403 | CV2948564 | single nucleotide variant | NM_002299.4(LCT):c.5316C>T (p.Tyr1772=) | not provided [RCV003664234] | likely benign | 2 | 135790677 | 135790677 | Human | | name |
| 405123802 | CV2961543 | single nucleotide variant | NM_002299.4(LCT):c.3345G>A (p.Glu1115=) | not provided [RCV003667723] | likely benign | 2 | 135809002 | 135809002 | Human | | name |
| 405184893 | CV2967643 | single nucleotide variant | NM_002299.4(LCT):c.3672C>G (p.Pro1224=) | not provided [RCV003676651] | likely benign | 2 | 135808675 | 135808675 | Human | | name |
| 405129235 | CV3010750 | deletion | NM_002299.4(LCT):c.2540del (p.Phe847fs) | not provided [RCV003701521] | pathogenic | 2 | 135809807 | 135809807 | Human | | name |
| 402490004 | CV3011661 | single nucleotide variant | NM_002299.4(LCT):c.4563G>C (p.Val1521=) | not provided [RCV003687443] | likely benign | 2 | 135804030 | 135804030 | Human | | name |
| 405149068 | CV3024155 | single nucleotide variant | NM_002299.4(LCT):c.913A>T (p.Asn305Tyr) | not provided [RCV003703060] | uncertain significance | 2 | 135822093 | 135822093 | Human | | name |
| 405121957 | CV3024693 | single nucleotide variant | NM_002299.4(LCT):c.3609C>T (p.Val1203=) | not provided [RCV003700852] | likely benign | 2 | 135808738 | 135808738 | Human | | name |
| 405180577 | CV3027818 | single nucleotide variant | NM_002299.4(LCT):c.5031T>C (p.Phe1677=) | not provided [RCV003705488] | likely benign | 2 | 135794721 | 135794721 | Human | | name |
| 405092969 | CV3045517 | single nucleotide variant | NM_002299.4(LCT):c.3942C>T (p.Val1314=) | not provided [RCV003717952] | likely benign | 2 | 135807359 | 135807359 | Human | | name |
| 405080617 | CV3050183 | single nucleotide variant | NM_002299.4(LCT):c.3543A>G (p.Leu1181=) | not provided [RCV003716955] | likely benign | 2 | 135808804 | 135808804 | Human | | name |
| 405254353 | CV3055170 | single nucleotide variant | NM_002299.4(LCT):c.3831G>A (p.Gly1277=) | LCT-related disorder [RCV003948965]|not provided [RCV003722925] | likely benign | 2 | 135808516 | 135808516 | Human | 1 | name , trait , alternate_id |
| 405226116 | CV3059275 | single nucleotide variant | NM_002299.4(LCT):c.3501C>T (p.Thr1167=) | not provided [RCV003734076] | likely benign | 2 | 135808846 | 135808846 | Human | | name |
| 405228127 | CV3065723 | single nucleotide variant | NM_002299.4(LCT):c.3936G>A (p.Gly1312=) | LCT-related disorder [RCV003919356]|not provided [RCV003734415] | likely benign | 2 | 135807365 | 135807365 | Human | 1 | name , trait , alternate_id |
| 405214666 | CV3066491 | single nucleotide variant | NM_002299.4(LCT):c.5460G>A (p.Leu1820=) | not provided [RCV003732476] | likely benign | 2 | 135789674 | 135789674 | Human | | name |
| 405043936 | CV3074299 | single nucleotide variant | NM_002299.4(LCT):c.730G>A (p.Asp244Asn) | not provided [RCV003740125] | uncertain significance | 2 | 135829667 | 135829667 | Human | | name |
| 405245948 | CV3075648 | single nucleotide variant | NM_002299.4(LCT):c.5304C>T (p.Tyr1768=) | not provided [RCV003738601] | likely benign | 2 | 135790689 | 135790689 | Human | | name |
| 405035812 | CV3130468 | single nucleotide variant | NM_002299.4(LCT):c.3729G>C (p.Thr1243=) | not provided [RCV003830875] | likely benign | 2 | 135808618 | 135808618 | Human | | name |
| 405135654 | CV3130560 | single nucleotide variant | NM_002299.4(LCT):c.413C>G (p.Ala138Gly) | not provided [RCV003838793] | uncertain significance | 2 | 135836757 | 135836757 | Human | | name |
| 405086884 | CV3133989 | single nucleotide variant | NM_002299.4(LCT):c.3708G>A (p.Glu1236=) | not provided [RCV003834527] | likely benign | 2 | 135808639 | 135808639 | Human | | name |
| 405041699 | CV3141164 | single nucleotide variant | NM_002299.4(LCT):c.4368C>T (p.Ile1456=) | not provided [RCV003831457] | likely benign | 2 | 135804863 | 135804863 | Human | | name |
| 405171370 | CV3150008 | single nucleotide variant | NM_002299.4(LCT):c.3324C>T (p.Tyr1108=) | not provided [RCV003841479] | likely benign | 2 | 135809023 | 135809023 | Human | | name |
| 405043081 | CV3154074 | single nucleotide variant | NM_002299.4(LCT):c.4404G>C (p.Ala1468=) | not provided [RCV003848942] | likely benign | 2 | 135804827 | 135804827 | Human | | name |
| 404992465 | CV3176338 | single nucleotide variant | NM_002299.4(LCT):c.5211G>A (p.Lys1737=) | not provided [RCV003881770] | likely benign | 2 | 135790782 | 135790782 | Human | | name |
| 405273487 | CV3192165 | single nucleotide variant | NM_002299.4(LCT):c.4809T>C (p.Ala1603=) | LCT-related disorder [RCV003914713] | likely benign | 2 | 135800664 | 135800664 | Human | | name , trait , alternate_id |
| 405817567 | CV3280046 | single nucleotide variant | NM_002299.4(LCT):c.303C>G (p.Ser101Arg) | Inborn genetic diseases [RCV004412553] | uncertain significance | 2 | 135836867 | 135836867 | Human | 1 | name |
| 405817573 | CV3280052 | single nucleotide variant | NM_002299.4(LCT):c.629A>G (p.Tyr210Cys) | Inborn genetic diseases [RCV004412559] | uncertain significance | 2 | 135836541 | 135836541 | Human | 1 | name |
| 597696624 | CV3698850 | single nucleotide variant | NM_002299.4(LCT):c.622G>A (p.Glu208Lys) | Inborn genetic diseases [RCV004986532] | uncertain significance | 2 | 135836548 | 135836548 | Human | 1 | name |
| 597696630 | CV3698851 | single nucleotide variant | NM_002299.4(LCT):c.491A>G (p.Asp164Gly) | Inborn genetic diseases [RCV004986533] | uncertain significance | 2 | 135836679 | 135836679 | Human | 1 | name |
| 597851915 | CV3737582 | single nucleotide variant | NM_002299.4(LCT):c.3021G>A (p.Leu1007=) | not provided [RCV005066355] | likely benign | 2 | 135809326 | 135809326 | Human | | name |
| 597913070 | CV3740450 | single nucleotide variant | NM_002299.4(LCT):c.4446C>T (p.Ala1482=) | not provided [RCV005073787] | likely benign | 2 | 135804785 | 135804785 | Human | | name |
| 597864815 | CV3742239 | single nucleotide variant | NM_002299.4(LCT):c.4629T>C (p.Ala1543=) | not provided [RCV005067855] | likely benign | 2 | 135803964 | 135803964 | Human | | name |
| 597849103 | CV3746665 | single nucleotide variant | NM_002299.4(LCT):c.4884T>C (p.Phe1628=) | not provided [RCV005066062] | likely benign | 2 | 135798121 | 135798121 | Human | | name |
| 597874623 | CV3747458 | single nucleotide variant | NM_002299.4(LCT):c.928C>T (p.Leu310Phe) | not provided [RCV005069142] | uncertain significance | 2 | 135822078 | 135822078 | Human | | name |
| 597970793 | CV3750158 | single nucleotide variant | NM_002299.4(LCT):c.664C>T (p.Arg222Ter) | not provided [RCV005084099] | pathogenic | 2 | 135833167 | 135833167 | Human | | name |
| 597831464 | CV3750955 | single nucleotide variant | NM_002299.4(LCT):c.4776C>A (p.Gly1592=) | not provided [RCV005084699] | likely benign | 2 | 135800697 | 135800697 | Human | | name |
| 597938143 | CV3760044 | single nucleotide variant | NM_002299.4(LCT):c.5625C>G (p.Leu1875=) | not provided [RCV005076968] | likely benign | 2 | 135788483 | 135788483 | Human | | name |
| 597850470 | CV3761820 | single nucleotide variant | NM_002299.4(LCT):c.5196C>A (p.Ile1732=) | not provided [RCV005087916] | likely benign | 2 | 135790797 | 135790797 | Human | | name |
| 597870233 | CV3768142 | single nucleotide variant | NM_002299.4(LCT):c.3321G>C (p.Thr1107=) | not provided [RCV005122521] | likely benign | 2 | 135809026 | 135809026 | Human | | name |
| 597918682 | CV3768523 | single nucleotide variant | NM_002299.4(LCT):c.979A>T (p.Lys327Ter) | not provided [RCV005114886] | pathogenic | 2 | 135822027 | 135822027 | Human | | name |
| 597913514 | CV3770998 | single nucleotide variant | NM_002299.4(LCT):c.5454T>C (p.Pro1818=) | not provided [RCV005114117] | likely benign | 2 | 135789680 | 135789680 | Human | | name |
| 597884245 | CV3780556 | single nucleotide variant | NM_002299.4(LCT):c.550C>A (p.His184Asn) | not provided [RCV005124684] | uncertain significance | 2 | 135836620 | 135836620 | Human | | name |
| 597878839 | CV3783170 | single nucleotide variant | NM_002299.4(LCT):c.992C>T (p.Ser331Phe) | not provided [RCV005123872] | uncertain significance | 2 | 135818056 | 135818056 | Human | | name |
| 597878888 | CV3783176 | single nucleotide variant | NM_002299.4(LCT):c.3246G>A (p.Gly1082=) | not provided [RCV005123878] | likely benign | 2 | 135809101 | 135809101 | Human | | name |
| 597926694 | CV3783347 | deletion | NM_002299.4(LCT):c.2423del (p.Pro808fs) | not provided [RCV005116033] | pathogenic | 2 | 135809924 | 135809924 | Human | | name |
| 597946394 | CV3790123 | single nucleotide variant | NM_002299.4(LCT):c.4929G>A (p.Lys1643=) | not provided [RCV005134824] | likely benign | 2 | 135798076 | 135798076 | Human | | name |
| 597947626 | CV3800750 | single nucleotide variant | NM_002299.4(LCT):c.709G>A (p.Ala237Thr) | not provided [RCV005135150] | uncertain significance | 2 | 135833122 | 135833122 | Human | | name |
| 597916993 | CV3811094 | single nucleotide variant | NM_002299.4(LCT):c.344G>A (p.Arg115Gln) | not provided [RCV005155129] | uncertain significance | 2 | 135836826 | 135836826 | Human | | name |
| 597922508 | CV3812255 | single nucleotide variant | NM_002299.4(LCT):c.3843G>A (p.Pro1281=) | not provided [RCV005155892] | likely benign | 2 | 135808504 | 135808504 | Human | | name |
| 597879787 | CV3826300 | single nucleotide variant | NM_002299.4(LCT):c.4542G>A (p.Arg1514=) | not provided [RCV005177996] | likely benign | 2 | 135804051 | 135804051 | Human | | name |
| 597844770 | CV3827517 | duplication | NM_002299.4(LCT):c.2291dup (p.Asn764fs) | not provided [RCV005172788] | pathogenic | 2 | 135812372 | 135812373 | Human | | name |
| 597832308 | CV3830994 | single nucleotide variant | NM_002299.4(LCT):c.4674T>C (p.Asn1558=) | not provided [RCV005170391] | likely benign | 2 | 135800799 | 135800799 | Human | | name |
| 597965139 | CV3848269 | single nucleotide variant | NM_002299.4(LCT):c.3684C>T (p.Asp1228=) | not provided [RCV005194149] | likely benign | 2 | 135808663 | 135808663 | Human | | name |
| 597919978 | CV3851947 | single nucleotide variant | NM_002299.4(LCT):c.3453G>A (p.Leu1151=) | not provided [RCV005204927] | likely benign | 2 | 135808894 | 135808894 | Human | | name |
| 597933468 | CV3858625 | single nucleotide variant | NM_002299.4(LCT):c.5727T>C (p.Ser1909=) | not provided [RCV005207095] | likely benign | 2 | 135788381 | 135788381 | Human | | name |
| 598175393 | CV3984251 | single nucleotide variant | NM_002299.4(LCT):c.581C>T (p.Thr194Ile) | Inborn genetic diseases [RCV005371258] | uncertain significance | 2 | 135836589 | 135836589 | Human | 1 | name |
| 598175399 | CV3984252 | single nucleotide variant | NM_002299.4(LCT):c.479A>G (p.His160Arg) | Inborn genetic diseases [RCV005371259] | uncertain significance | 2 | 135836691 | 135836691 | Human | 1 | name |
| 15109523 | CV719256 | single nucleotide variant | NM_002299.4(LCT):c.3597G>A (p.Ala1199=) | Congenital lactase deficiency [RCV001130151]|not provided [RCV000893881] | benign|likely benign | 2 | 135808750 | 135808750 | Human | 1 | name |
| 15152427 | CV719258 | single nucleotide variant | NM_002299.4(LCT):c.301A>G (p.Ser101Gly) | Congenital lactase deficiency [RCV001133948]|not provided [RCV000879804] | benign | 2 | 135836869 | 135836870 | Human | 2 | name |
| 15152427 | CV719258 | single nucleotide variant | NM_002299.4(LCT):c.301A>G (p.Ser101Gly) | Congenital lactase deficiency [RCV001133948]|not provided [RCV000879804] | benign | 2 | 135836869 | 135836869 | Human | 2 | name |
| 15142976 | CV732766 | single nucleotide variant | NM_002299.4(LCT):c.4185G>A (p.Ala1395=) | not provided [RCV000899763] | likely benign | 2 | 135805046 | 135805046 | Human | | name |
| 8629851 | CV84998 | single nucleotide variant | NM_002299.2(LCT):c.5197C>T (p.Leu1733=) | Malignant melanoma [RCV000065080] | not provided | 2 | 135790796 | 135790796 | Human | | name |
| 8629852 | CV84999 | single nucleotide variant | NM_002299.4(LCT):c.3915C>T (p.Leu1305=) | not provided [RCV003546387] | likely benign|not provided | 2 | 135807386 | 135807386 | Human | | name |
| 28878101 | CV881070 | single nucleotide variant | NM_002299.4(LCT):c.5655C>T (p.Tyr1885=) | Congenital lactase deficiency [RCV001135042]|not provided [RCV002070577] | likely benign|uncertain significance | 2 | 135788453 | 135788453 | Human | 1 | name |
| 28868527 | CV881071 | single nucleotide variant | NM_002299.4(LCT):c.5391T>C (p.Asn1797=) | Congenital lactase deficiency [RCV001130016]|not provided [RCV002558271] | likely benign|uncertain significance | 2 | 135789743 | 135789743 | Human | 1 | name |
| 28868534 | CV881072 | single nucleotide variant | NM_002299.4(LCT):c.4776C>T (p.Gly1592=) | Congenital lactase deficiency [RCV001130019]|LCT-related disorder [RCV003906244]|not provided [RCV001517889] | benign|likely benign|uncertain significance | 2 | 135800697 | 135800697 | Human | 1 | name , trait , alternate_id |
| 28869597 | CV881073 | single nucleotide variant | NM_002299.4(LCT):c.4761C>T (p.Arg1587=) | Congenital lactase deficiency [RCV001130728]|not provided [RCV001856692] | likely benign|uncertain significance | 2 | 135800712 | 135800712 | Human | 1 | name |
| 28874986 | CV881076 | single nucleotide variant | NM_002299.4(LCT):c.4404G>A (p.Ala1468=) | Congenital lactase deficiency [RCV001133687]|not provided [RCV002070563] | likely benign|uncertain significance | 2 | 135804827 | 135804827 | Human | 1 | name |
| 28874990 | CV881077 | single nucleotide variant | NM_002299.4(LCT):c.4362T>G (p.Ser1454=) | Congenital lactase deficiency [RCV001133688]|not provided [RCV002070564] | benign|uncertain significance | 2 | 135804869 | 135804869 | Human | 1 | name |
| 28874993 | CV881078 | single nucleotide variant | NM_002299.4(LCT):c.4224G>A (p.Thr1408=) | Congenital lactase deficiency [RCV001133689]|not provided [RCV002070565] | likely benign|uncertain significance | 2 | 135805007 | 135805007 | Human | 1 | name |
| 28878490 | CV881079 | single nucleotide variant | NM_002299.4(LCT):c.3804C>A (p.Pro1268=) | Congenital lactase deficiency [RCV001135188]|not provided [RCV002070579] | likely benign|uncertain significance | 2 | 135808543 | 135808543 | Human | 1 | name |
| 28868706 | CV881082 | single nucleotide variant | NM_002299.4(LCT):c.3483C>T (p.Asn1161=) | Congenital lactase deficiency [RCV001130152]|not provided [RCV002070519] | likely benign|uncertain significance | 2 | 135808864 | 135808864 | Human | 1 | name |
| 28868708 | CV881083 | single nucleotide variant | NM_002299.4(LCT):c.3450C>T (p.Ser1150=) | Congenital lactase deficiency [RCV001130153]|not provided [RCV005093595] | likely benign|uncertain significance | 2 | 135808897 | 135808897 | Human | 1 | name |
| 28870090 | CV881099 | single nucleotide variant | NM_002299.4(LCT):c.725C>T (p.Thr242Met) | Congenital lactase deficiency [RCV001130998]|not provided [RCV002556836] | uncertain significance | 2 | 135829672 | 135829672 | Human | 1 | name |
| 28870093 | CV881100 | single nucleotide variant | NM_002299.4(LCT):c.677T>C (p.Ile226Thr) | Congenital lactase deficiency [RCV001130999]|not provided [RCV001856696]|not specified [RCV001174743] | uncertain significance | 2 | 135833154 | 135833154 | Human | 1 | name |
| 126757209 | CV987936 | single nucleotide variant | NM_002299.4(LCT):c.424C>T (p.Arg142Trp) | not provided [RCV001298815] | uncertain significance | 2 | 135836746 | 135836746 | Human | | name |
| 126747044 | CV1023694 | single nucleotide variant | NM_002299.4(LCT):c.2647G>A (p.Val883Ile) | not provided [RCV001351614] | uncertain significance | 2 | 135809700 | 135809700 | Human | | name |
| 151863388 | CV1338966 | single nucleotide variant | NM_002299.4(LCT):c.1805A>G (p.Asn602Ser) | not provided [RCV001997431] | uncertain significance | 2 | 135812859 | 135812859 | Human | | name |
| 151843367 | CV1339256 | single nucleotide variant | NM_002299.4(LCT):c.2617C>T (p.Pro873Ser) | not provided [RCV001977971] | uncertain significance | 2 | 135809730 | 135809730 | Human | | name |
| 151767688 | CV1341601 | single nucleotide variant | NM_002299.4(LCT):c.2359A>T (p.Lys787Ter) | not provided [RCV001874134] | pathogenic | 2 | 135809988 | 135809988 | Human | | name |
| 151759084 | CV1343023 | single nucleotide variant | NM_002299.4(LCT):c.1663C>G (p.Gln555Glu) | not provided [RCV002024155] | uncertain significance | 2 | 135817385 | 135817385 | Human | | name |
| 151830934 | CV1343534 | single nucleotide variant | NM_002299.4(LCT):c.2066G>A (p.Arg689His) | not provided [RCV001920483] | uncertain significance | 2 | 135812598 | 135812598 | Human | | name |
| 151794185 | CV1348127 | single nucleotide variant | NM_002299.4(LCT):c.2276T>C (p.Ile759Thr) | Inborn genetic diseases [RCV002545849]|not provided [RCV001876789] | uncertain significance | 2 | 135812388 | 135812388 | Human | 1 | name |
| 151862741 | CV1353529 | single nucleotide variant | NM_002299.4(LCT):c.1115C>T (p.Ala372Val) | Inborn genetic diseases [RCV002560480]|not provided [RCV001924212] | uncertain significance | 2 | 135817933 | 135817933 | Human | 1 | name |
| 151791852 | CV1354105 | single nucleotide variant | NM_002299.4(LCT):c.2672C>T (p.Pro891Leu) | not provided [RCV001876587] | uncertain significance | 2 | 135809675 | 135809675 | Human | | name |
| 151780154 | CV1355838 | single nucleotide variant | NM_002299.4(LCT):c.1330T>A (p.Cys444Ser) | not provided [RCV002046085] | uncertain significance | 2 | 135817718 | 135817718 | Human | | name |
| 151843371 | CV1357907 | single nucleotide variant | NM_002299.4(LCT):c.1899C>A (p.His633Gln) | not provided [RCV001881634] | uncertain significance | 2 | 135812765 | 135812765 | Human | | name |
| 151842231 | CV1363109 | single nucleotide variant | NM_002299.4(LCT):c.2091C>G (p.Asn697Lys) | not provided [RCV002015474] | uncertain significance | 2 | 135812573 | 135812573 | Human | | name |
| 151826319 | CV1363498 | single nucleotide variant | NM_002299.4(LCT):c.1660G>A (p.Gly554Ser) | Inborn genetic diseases [RCV004044876]|not provided [RCV002050284] | uncertain significance | 2 | 135817388 | 135817388 | Human | 1 | name |
| 151802256 | CV1366066 | single nucleotide variant | NM_002299.4(LCT):c.2339A>G (p.Asn780Ser) | not provided [RCV001917819] | uncertain significance | 2 | 135812325 | 135812325 | Human | | name |
| 151802656 | CV1366133 | single nucleotide variant | NM_002299.4(LCT):c.2521A>G (p.Ile841Val) | Inborn genetic diseases [RCV004988878]|not provided [RCV001917854] | likely benign|uncertain significance | 2 | 135809826 | 135809826 | Human | 1 | name |
| 151767575 | CV1367407 | single nucleotide variant | NM_002299.4(LCT):c.2196A>G (p.Ile732Met) | not provided [RCV002025045] | uncertain significance | 2 | 135812468 | 135812468 | Human | | name |
| 151891568 | CV1368077 | single nucleotide variant | NM_002299.4(LCT):c.1340G>A (p.Arg447Gln) | not provided [RCV001888766] | uncertain significance | 2 | 135817708 | 135817708 | Human | | name |
| 151709513 | CV1375908 | single nucleotide variant | NM_002299.4(LCT):c.2393C>T (p.Ala798Val) | not provided [RCV001964003] | uncertain significance | 2 | 135809954 | 135809954 | Human | | name |
| 151857738 | CV1377464 | single nucleotide variant | NM_002299.4(LCT):c.2882C>A (p.Ala961Asp) | not provided [RCV001938157] | uncertain significance | 2 | 135809465 | 135809465 | Human | | name |
| 151768441 | CV1383364 | single nucleotide variant | NM_002299.4(LCT):c.2233A>G (p.Arg745Gly) | Inborn genetic diseases [RCV004988812]|not provided [RCV001874208] | uncertain significance | 2 | 135812431 | 135812431 | Human | 1 | name |
| 151817247 | CV1384786 | single nucleotide variant | NM_002299.4(LCT):c.1571C>G (p.Ala524Gly) | Inborn genetic diseases [RCV004641831]|not provided [RCV001992417] | uncertain significance | 2 | 135817477 | 135817477 | Human | 1 | name |
| 151849441 | CV1389561 | single nucleotide variant | NM_002299.4(LCT):c.1570G>A (p.Ala524Thr) | LCT-related disorder [RCV003948782]|not provided [RCV001937152] | uncertain significance | 2 | 135817478 | 135817478 | Human | 1 | name , trait , alternate_id |
| 151837622 | CV1392314 | single nucleotide variant | NM_002299.4(LCT):c.1834G>C (p.Glu612Gln) | not provided [RCV001902468] | uncertain significance | 2 | 135812830 | 135812830 | Human | | name |
| 151714912 | CV1392513 | single nucleotide variant | NM_002299.4(LCT):c.1568C>T (p.Ala523Val) | Inborn genetic diseases [RCV003167076]|not provided [RCV001908772] | uncertain significance | 2 | 135817480 | 135817480 | Human | 1 | name |
| 151712181 | CV1400276 | single nucleotide variant | NM_002299.4(LCT):c.2701G>A (p.Gly901Arg) | not provided [RCV002002207] | uncertain significance | 2 | 135809646 | 135809646 | Human | | name |
| 151727434 | CV1408246 | single nucleotide variant | NM_002299.4(LCT):c.2804T>G (p.Phe935Cys) | not provided [RCV001891901] | uncertain significance | 2 | 135809543 | 135809543 | Human | | name |
| 151801379 | CV1414171 | single nucleotide variant | NM_002299.4(LCT):c.1918G>A (p.Asp640Asn) | not provided [RCV002048010] | uncertain significance | 2 | 135812746 | 135812746 | Human | | name |
| 151842458 | CV1423985 | single nucleotide variant | NM_002299.4(LCT):c.1478C>T (p.Ala493Val) | not provided [RCV001977867] | uncertain significance | 2 | 135817570 | 135817570 | Human | | name |
| 151745349 | CV1428141 | single nucleotide variant | NM_002299.4(LCT):c.2542C>G (p.Leu848Val) | not provided [RCV001926896] | uncertain significance | 2 | 135809805 | 135809805 | Human | | name |
| 151805443 | CV1429893 | single nucleotide variant | NM_002299.4(LCT):c.1094C>A (p.Ala365Glu) | not provided [RCV001974291] | uncertain significance | 2 | 135817954 | 135817954 | Human | | name |
| 151846456 | CV1431588 | single nucleotide variant | NM_002299.4(LCT):c.2005G>A (p.Ala669Thr) | not provided [RCV001957395] | uncertain significance | 2 | 135812659 | 135812659 | Human | | name |
| 151846508 | CV1434767 | single nucleotide variant | NM_002299.4(LCT):c.1903G>A (p.Val635Ile) | not provided [RCV001922190] | uncertain significance | 2 | 135812761 | 135812761 | Human | | name |
| 151725547 | CV1437846 | single nucleotide variant | NM_002299.4(LCT):c.2260G>A (p.Gly754Arg) | not provided [RCV001891670] | uncertain significance | 2 | 135812404 | 135812404 | Human | | name |
| 151887852 | CV1439507 | single nucleotide variant | NM_002299.4(LCT):c.2552G>A (p.Gly851Glu) | Inborn genetic diseases [RCV005370128]|not provided [RCV002038276] | uncertain significance | 2 | 135809795 | 135809795 | Human | 1 | name |
| 151711165 | CV1443734 | single nucleotide variant | NM_002299.4(LCT):c.2536G>A (p.Gly846Ser) | not provided [RCV001908036] | uncertain significance | 2 | 135809811 | 135809811 | Human | | name |
| 151842295 | CV1446026 | single nucleotide variant | NM_002299.4(LCT):c.1789G>A (p.Val597Met) | not provided [RCV001956901] | uncertain significance | 2 | 135812875 | 135812875 | Human | | name |
| 151733446 | CV1456518 | single nucleotide variant | NM_002299.4(LCT):c.1767T>A (p.His589Gln) | not provided [RCV002041439] | uncertain significance | 2 | 135812897 | 135812897 | Human | | name |
| 151793080 | CV1467583 | single nucleotide variant | NM_002299.4(LCT):c.2137G>A (p.Val713Met) | not provided [RCV001931605] | uncertain significance | 2 | 135812527 | 135812527 | Human | | name |
| 151827606 | CV1472077 | single nucleotide variant | NM_002299.4(LCT):c.2658G>C (p.Lys886Asn) | not provided [RCV002030486] | uncertain significance | 2 | 135809689 | 135809689 | Human | | name |
| 151862780 | CV1474349 | single nucleotide variant | NM_002299.4(LCT):c.1222G>A (p.Val408Met) | not provided [RCV001884148] | uncertain significance | 2 | 135817826 | 135817826 | Human | | name |
| 151815882 | CV1475845 | single nucleotide variant | NM_002299.4(LCT):c.2165C>A (p.Ser722Tyr) | not provided [RCV001992281] | uncertain significance | 2 | 135812499 | 135812499 | Human | | name |
| 151725838 | CV1482181 | single nucleotide variant | NM_002299.4(LCT):c.1309G>A (p.Ala437Thr) | not provided [RCV002020766] | uncertain significance | 2 | 135817739 | 135817739 | Human | | name |
| 151879422 | CV1490849 | single nucleotide variant | NM_002299.4(LCT):c.2179G>A (p.Val727Met) | not provided [RCV001940807] | uncertain significance | 2 | 135812485 | 135812485 | Human | | name |
| 151839555 | CV1492934 | single nucleotide variant | NM_002299.4(LCT):c.2705C>A (p.Thr902Lys) | not provided [RCV001881175] | uncertain significance | 2 | 135809642 | 135809642 | Human | | name |
| 151711052 | CV1497106 | single nucleotide variant | NM_002299.4(LCT):c.2123G>C (p.Gly708Ala) | not provided [RCV002001973] | uncertain significance | 2 | 135812541 | 135812541 | Human | | name |
| 151734498 | CV1501187 | single nucleotide variant | NM_002299.4(LCT):c.2705C>T (p.Thr902Met) | not provided [RCV002005129] | uncertain significance | 2 | 135809642 | 135809642 | Human | | name |
| 152147835 | CV1576838 | single nucleotide variant | NM_002299.4(LCT):c.1082G>A (p.Arg361Lys) | not provided [RCV002178991] | likely benign | 2 | 135817966 | 135817966 | Human | | name |
| 155716993 | CV1774240 | single nucleotide variant | NM_002299.4(LCT):c.1073C>A (p.Ala358Asp) | not provided [RCV002296500] | uncertain significance | 2 | 135817975 | 135817975 | Human | | name |
| 155709269 | CV1775729 | single nucleotide variant | NM_002299.4(LCT):c.2986G>A (p.Gly996Arg) | not provided [RCV002296120] | uncertain significance | 2 | 135809361 | 135809361 | Human | | name |
| 155749487 | CV1778215 | single nucleotide variant | NM_002299.4(LCT):c.2623G>A (p.Glu875Lys) | not provided [RCV002304703] | uncertain significance | 2 | 135809724 | 135809724 | Human | | name |
| 156404796 | CV1883539 | single nucleotide variant | NM_002299.4(LCT):c.2356A>C (p.Ile786Leu) | not provided [RCV003069829] | uncertain significance | 2 | 135809991 | 135809991 | Human | | name |
| 156353519 | CV1932994 | single nucleotide variant | NM_002299.4(LCT):c.2080G>A (p.Ala694Thr) | not provided [RCV002651085] | uncertain significance | 2 | 135812584 | 135812584 | Human | | name |
| 156440189 | CV1946551 | single nucleotide variant | NM_002299.4(LCT):c.2284A>G (p.Ser762Gly) | not provided [RCV003110220] | uncertain significance | 2 | 135812380 | 135812380 | Human | | name |
| 156278758 | CV1954801 | single nucleotide variant | NM_002299.4(LCT):c.2509T>A (p.Phe837Ile) | not provided [RCV002577410] | uncertain significance | 2 | 135809838 | 135809838 | Human | | name |
| 155968597 | CV1967990 | single nucleotide variant | NM_002299.4(LCT):c.1768C>T (p.Arg590Cys) | not provided [RCV002617074] | uncertain significance | 2 | 135812896 | 135812896 | Human | | name |
| 156173917 | CV1968489 | single nucleotide variant | NM_002299.4(LCT):c.1043A>T (p.His348Leu) | not provided [RCV002594854] | uncertain significance | 2 | 135818005 | 135818005 | Human | | name |
| 156344271 | CV1970423 | single nucleotide variant | NM_002299.4(LCT):c.1546G>A (p.Val516Met) | not provided [RCV002601446] | uncertain significance | 2 | 135817502 | 135817502 | Human | | name |
| 156412392 | CV1972086 | single nucleotide variant | NM_002299.4(LCT):c.1396G>A (p.Gly466Arg) | not provided [RCV002608529] | uncertain significance | 2 | 135817652 | 135817652 | Human | | name |
| 156353907 | CV1974879 | single nucleotide variant | NM_002299.4(LCT):c.1291G>A (p.Asp431Asn) | not provided [RCV002602025] | uncertain significance | 2 | 135817757 | 135817757 | Human | | name |
| 156357746 | CV1976920 | single nucleotide variant | NM_002299.4(LCT):c.1058C>T (p.Ser353Phe) | Inborn genetic diseases [RCV003308167]|not provided [RCV002581507] | uncertain significance | 2 | 135817990 | 135817990 | Human | 1 | name |
| 156382062 | CV1978931 | single nucleotide variant | NM_002299.4(LCT):c.2629C>G (p.Pro877Ala) | not provided [RCV002604036] | uncertain significance | 2 | 135809718 | 135809718 | Human | | name |
| 156416255 | CV1984112 | single nucleotide variant | NM_002299.4(LCT):c.2813C>T (p.Thr938Ile) | not provided [RCV002610073] | uncertain significance | 2 | 135809534 | 135809534 | Human | | name |
| 156240806 | CV1992544 | single nucleotide variant | NM_002299.4(LCT):c.1553C>A (p.Ala518Asp) | not provided [RCV002627125] | uncertain significance | 2 | 135817495 | 135817495 | Human | | name |
| 155943794 | CV2002917 | single nucleotide variant | NM_002299.4(LCT):c.2911G>T (p.Val971Leu) | not provided [RCV002685628] | uncertain significance | 2 | 135809436 | 135809436 | Human | | name |
| 156204047 | CV2004336 | single nucleotide variant | NM_002299.4(LCT):c.1543G>A (p.Val515Met) | not provided [RCV002666599] | uncertain significance | 2 | 135817505 | 135817505 | Human | | name |
| 156027626 | CV2004701 | single nucleotide variant | NM_002299.4(LCT):c.1993G>A (p.Glu665Lys) | not provided [RCV002658523] | uncertain significance | 2 | 135812671 | 135812671 | Human | | name |
| 156228422 | CV2019549 | single nucleotide variant | NM_002299.4(LCT):c.2990T>C (p.Val997Ala) | Inborn genetic diseases [RCV003167658]|not provided [RCV002701267] | uncertain significance | 2 | 135809357 | 135809357 | Human | 1 | name |
| 156230598 | CV2019708 | single nucleotide variant | NM_002299.4(LCT):c.1955T>A (p.Met652Lys) | not provided [RCV002701345] | uncertain significance | 2 | 135812709 | 135812709 | Human | | name |
| 156357440 | CV2020162 | single nucleotide variant | NM_002299.4(LCT):c.2761G>A (p.Ala921Thr) | not provided [RCV002720631] | uncertain significance | 2 | 135809586 | 135809586 | Human | | name |
| 156009635 | CV2020201 | single nucleotide variant | NM_002299.4(LCT):c.1585A>G (p.Thr529Ala) | Inborn genetic diseases [RCV004983098]|not provided [RCV002734830] | uncertain significance | 2 | 135817463 | 135817463 | Human | 1 | name |
| 156185837 | CV2020669 | single nucleotide variant | NM_002299.4(LCT):c.1645G>A (p.Ala549Thr) | not provided [RCV002710927] | uncertain significance | 2 | 135817403 | 135817403 | Human | | name |
| 156240619 | CV2028264 | single nucleotide variant | NM_002299.4(LCT):c.2395C>T (p.Arg799Cys) | not provided [RCV002745649] | uncertain significance | 2 | 135809952 | 135809952 | Human | | name |
| 156120744 | CV2052300 | single nucleotide variant | NM_002299.4(LCT):c.2134C>T (p.His712Tyr) | not provided [RCV002825288] | uncertain significance | 2 | 135812530 | 135812530 | Human | | name |
| 156201870 | CV2062973 | single nucleotide variant | NM_002299.4(LCT):c.1474A>G (p.Met492Val) | not provided [RCV002828969] | uncertain significance | 2 | 135817574 | 135817574 | Human | | name |
| 155913137 | CV2065887 | single nucleotide variant | NM_002299.4(LCT):c.2978A>G (p.Asn993Ser) | not provided [RCV002837859] | uncertain significance | 2 | 135809369 | 135809369 | Human | | name |
| 156020770 | CV2118583 | duplication | NM_002299.4(LCT):c.3166dup (p.Arg1056fs) | not provided [RCV002948762] | pathogenic | 2 | 135809180 | 135809181 | Human | | name |
| 156263657 | CV2128872 | single nucleotide variant | NM_002299.4(LCT):c.1154G>T (p.Gly385Val) | not provided [RCV002933974] | uncertain significance | 2 | 135817894 | 135817894 | Human | | name |
| 156323835 | CV2134354 | single nucleotide variant | NM_002299.4(LCT):c.2773G>A (p.Asp925Asn) | not provided [RCV002963389] | uncertain significance | 2 | 135809574 | 135809574 | Human | | name |
| 156126275 | CV2144891 | single nucleotide variant | NM_002299.4(LCT):c.1271C>T (p.Ala424Val) | Inborn genetic diseases [RCV003003182]|not provided [RCV003005612] | uncertain significance | 2 | 135817777 | 135817777 | Human | 1 | name |
| 156024002 | CV2145501 | single nucleotide variant | NM_002299.4(LCT):c.2198G>A (p.Arg733Lys) | not provided [RCV003018366] | uncertain significance | 2 | 135812466 | 135812466 | Human | | name |
| 156104110 | CV2149292 | single nucleotide variant | NM_002299.4(LCT):c.2993A>G (p.Asp998Gly) | not provided [RCV003021154] | uncertain significance | 2 | 135809354 | 135809354 | Human | | name |
| 156307656 | CV2153794 | deletion | NM_002299.4(LCT):c.4324del (p.Leu1442fs) | not provided [RCV003028403] | pathogenic | 2 | 135804907 | 135804907 | Human | | name |
| 156189203 | CV2160735 | single nucleotide variant | NM_002299.4(LCT):c.2863A>T (p.Ser955Cys) | not provided [RCV003024075] | uncertain significance | 2 | 135809484 | 135809484 | Human | | name |
| 156116070 | CV2173973 | single nucleotide variant | NM_002299.4(LCT):c.2059A>T (p.Thr687Ser) | not provided [RCV003055280] | uncertain significance | 2 | 135812605 | 135812605 | Human | | name |
| 156233271 | CV2180438 | duplication | NM_002299.4(LCT):c.5665dup (p.Ser1889fs) | not provided [RCV003043169] | uncertain significance | 2 | 135788442 | 135788443 | Human | | name |
| 156393418 | CV2185453 | single nucleotide variant | NM_002299.4(LCT):c.1234G>T (p.Asp412Tyr) | not provided [RCV003051581] | uncertain significance | 2 | 135817814 | 135817814 | Human | | name |
| 156399768 | CV2185947 | single nucleotide variant | NM_002299.4(LCT):c.1250T>A (p.Leu417Gln) | not provided [RCV003052202] | uncertain significance | 2 | 135817798 | 135817798 | Human | | name |
| 155914352 | CV2242688 | single nucleotide variant | NM_002299.4(LCT):c.2507A>T (p.Tyr836Phe) | Inborn genetic diseases [RCV002772050] | uncertain significance | 2 | 135809840 | 135809840 | Human | 1 | name |
| 156188693 | CV2258424 | single nucleotide variant | NM_002299.4(LCT):c.1250T>C (p.Leu417Pro) | Inborn genetic diseases [RCV002802714] | uncertain significance | 2 | 135817798 | 135817798 | Human | 1 | name |
| 155925709 | CV2277347 | single nucleotide variant | NM_002299.4(LCT):c.1445A>T (p.Asp482Val) | Inborn genetic diseases [RCV002860284] | uncertain significance | 2 | 135817603 | 135817603 | Human | 1 | name |
| 155996918 | CV2277461 | single nucleotide variant | NM_002299.4(LCT):c.1241G>T (p.Arg414Leu) | Inborn genetic diseases [RCV002864999] | uncertain significance | 2 | 135817807 | 135817807 | Human | 1 | name |
| 156242841 | CV2283222 | single nucleotide variant | NM_002299.4(LCT):c.1267C>A (p.Gln423Lys) | Inborn genetic diseases [RCV002854348] | uncertain significance | 2 | 135817781 | 135817781 | Human | 1 | name |
| 156242858 | CV2283223 | single nucleotide variant | NM_002299.4(LCT):c.1268A>G (p.Gln423Arg) | Inborn genetic diseases [RCV002854349] | uncertain significance | 2 | 135817780 | 135817780 | Human | 1 | name |
| 156170402 | CV2296809 | single nucleotide variant | NM_002299.4(LCT):c.1321G>A (p.Ala441Thr) | Inborn genetic diseases [RCV002891369] | uncertain significance | 2 | 135817727 | 135817727 | Human | 1 | name |
| 156361997 | CV2322983 | single nucleotide variant | NM_002299.4(LCT):c.1142C>T (p.Thr381Ile) | Inborn genetic diseases [RCV002941483] | uncertain significance | 2 | 135817906 | 135817906 | Human | 1 | name |
| 156071075 | CV2325166 | single nucleotide variant | NM_002299.4(LCT):c.1103A>G (p.Asn368Ser) | Inborn genetic diseases [RCV002925619] | uncertain significance | 2 | 135817945 | 135817945 | Human | 1 | name |
| 156000020 | CV2373481 | single nucleotide variant | NM_002299.4(LCT):c.2176C>T (p.Arg726Cys) | Inborn genetic diseases [RCV002689970] | uncertain significance | 2 | 135812488 | 135812488 | Human | 1 | name |
| 329385487 | CV2451482 | single nucleotide variant | NM_002299.4(LCT):c.1991C>T (p.Pro664Leu) | Inborn genetic diseases [RCV003214449] | uncertain significance | 2 | 135812673 | 135812673 | Human | 1 | name |
| 401759666 | CV2701663 | single nucleotide variant | NM_002299.4(LCT):c.1127C>A (p.Ala376Asp) | Inborn genetic diseases [RCV003256948] | uncertain significance | 2 | 135817921 | 135817921 | Human | 1 | name |
| 401772318 | CV2712663 | single nucleotide variant | NM_002299.4(LCT):c.1443T>G (p.Ile481Met) | Inborn genetic diseases [RCV003261803] | uncertain significance | 2 | 135817605 | 135817605 | Human | 1 | name |
| 11580073 | CV282512 | single nucleotide variant | NM_002299.4(LCT):c.2714A>G (p.Asp905Gly) | Congenital lactase deficiency [RCV000321962]|LCT-related disorder [RCV003972397]|Lactose intolerance [RCV000374209]|not provided [RCV000955965] | benign|likely benign | 2 | 135809633 | 135809633 | Human | 3 | name , trait , alternate_id |
| 11650827 | CV282513 | single nucleotide variant | NM_002299.4(LCT):c.2177G>A (p.Arg726His) | Congenital lactase deficiency [RCV000373266]|Lactose intolerance [RCV000295201] | uncertain significance | 2 | 135812487 | 135812487 | Human | 3 | name |
| 11577548 | CV282521 | single nucleotide variant | NM_002299.4(LCT):c.1084A>G (p.Ile362Val) | Congenital lactase deficiency [RCV000352993]|Lactose intolerance [RCV000262636]|not provided [RCV001511198]|not specified [RCV001528781] | benign | 2 | 135817964 | 135817964 | Human | 3 | name |
| 11656215 | CV282524 | single nucleotide variant | NM_002299.4(LCT):c.1045G>A (p.Glu349Lys) | Congenital lactase deficiency [RCV000331839]|Lactose intolerance [RCV000386407]|not provided [RCV002521292] | uncertain significance | 2 | 135818003 | 135818003 | Human | 3 | name |
| 11650615 | CV284162 | single nucleotide variant | NM_002299.4(LCT):c.1780C>G (p.Gln594Glu) | Congenital lactase deficiency [RCV000294073]|Inborn genetic diseases [RCV005348109]|Lactose intolerance [RCV000346697] | uncertain significance | 2 | 135812884 | 135812884 | Human | 4 | name |
| 11577734 | CV284389 | single nucleotide variant | NM_002299.4(LCT):c.1396G>T (p.Gly466Trp) | Congenital lactase deficiency [RCV000266315]|Lactose intolerance [RCV000316915]|not provided [RCV001850777] | uncertain significance | 2 | 135817652 | 135817652 | Human | 3 | name |
| 405178086 | CV2861191 | deletion | NM_002299.4(LCT):c.5514del (p.Asn1838fs) | not provided [RCV003542940] | uncertain significance | 2 | 135789620 | 135789620 | Human | | name |
| 402481011 | CV2864129 | single nucleotide variant | NM_002299.4(LCT):c.1271C>A (p.Ala424Glu) | not provided [RCV003544026] | uncertain significance | 2 | 135817777 | 135817777 | Human | | name |
| 405040598 | CV3063931 | single nucleotide variant | NM_002299.4(LCT):c.2065C>T (p.Arg689Cys) | not provided [RCV003739888] | uncertain significance | 2 | 135812599 | 135812599 | Human | | name |
| 405171609 | CV3150074 | single nucleotide variant | NM_002299.4(LCT):c.2364A>C (p.Glu788Asp) | not provided [RCV003841545] | uncertain significance | 2 | 135809983 | 135809983 | Human | | name |
| 405240647 | CV3176779 | single nucleotide variant | NM_002299.4(LCT):c.1018C>A (p.Leu340Ile) | not provided [RCV003867217] | uncertain significance | 2 | 135818030 | 135818030 | Human | | name |
| 405817564 | CV3280043 | single nucleotide variant | NM_002299.4(LCT):c.1346A>G (p.Gln449Arg) | Inborn genetic diseases [RCV004412550] | uncertain significance | 2 | 135817702 | 135817702 | Human | 1 | name |
| 405817565 | CV3280044 | single nucleotide variant | NM_002299.4(LCT):c.1723C>A (p.Leu575Ile) | Inborn genetic diseases [RCV004412551] | uncertain significance | 2 | 135812941 | 135812941 | Human | 1 | name |
| 405817566 | CV3280045 | single nucleotide variant | NM_002299.4(LCT):c.1973A>G (p.His658Arg) | Inborn genetic diseases [RCV004412552] | uncertain significance | 2 | 135812691 | 135812691 | Human | 1 | name |
| 407491473 | CV3452558 | single nucleotide variant | NM_002299.4(LCT):c.1274C>T (p.Thr425Met) | Inborn genetic diseases [RCV004642226] | uncertain significance | 2 | 135817774 | 135817774 | Human | 1 | name |
| 407460527 | CV3452565 | single nucleotide variant | NM_002299.4(LCT):c.2242G>C (p.Val748Leu) | Inborn genetic diseases [RCV004633914] | uncertain significance | 2 | 135812422 | 135812422 | Human | 1 | name |
| 408377494 | CV3508216 | single nucleotide variant | NM_002299.4(LCT):c.2897T>C (p.Leu966Pro) | LCT-related disorder [RCV004751029] | uncertain significance | 2 | 135809450 | 135809450 | Human | | name , trait , alternate_id |
| 408379052 | CV3517880 | single nucleotide variant | NM_002299.4(LCT):c.2550G>C (p.Lys850Asn) | LCT-related disorder [RCV004752518] | uncertain significance | 2 | 135809797 | 135809797 | Human | | name , trait , alternate_id |
| 597696577 | CV3698842 | single nucleotide variant | NM_002299.4(LCT):c.2470G>A (p.Asp824Asn) | Inborn genetic diseases [RCV004986525] | uncertain significance | 2 | 135809877 | 135809877 | Human | 1 | name |
| 597696597 | CV3698845 | single nucleotide variant | NM_002299.4(LCT):c.1750C>A (p.His584Asn) | Inborn genetic diseases [RCV004986528] | uncertain significance | 2 | 135812914 | 135812914 | Human | 1 | name |
| 597696609 | CV3698847 | single nucleotide variant | NM_002299.4(LCT):c.1514A>G (p.Gln505Arg) | Inborn genetic diseases [RCV004986530] | uncertain significance | 2 | 135817534 | 135817534 | Human | 1 | name |
| 597696635 | CV3698852 | single nucleotide variant | NM_002299.4(LCT):c.2792T>C (p.Ile931Thr) | Inborn genetic diseases [RCV004986534] | uncertain significance | 2 | 135809555 | 135809555 | Human | 1 | name |
| 597970857 | CV3750551 | single nucleotide variant | NM_002299.4(LCT):c.1757A>G (p.Asn586Ser) | not provided [RCV005084295] | uncertain significance | 2 | 135812907 | 135812907 | Human | | name |
| 597958526 | CV3751906 | single nucleotide variant | NM_002299.4(LCT):c.1088G>A (p.Trp363Ter) | not provided [RCV005081036] | pathogenic | 2 | 135817960 | 135817960 | Human | | name |
| 597843705 | CV3827342 | single nucleotide variant | NM_002299.4(LCT):c.1682C>G (p.Ser561Cys) | not provided [RCV005172613] | uncertain significance | 2 | 135817366 | 135817366 | Human | | name |
| 597847347 | CV3828006 | single nucleotide variant | NM_002299.4(LCT):c.2429G>T (p.Gly810Val) | not provided [RCV005173081] | uncertain significance | 2 | 135809918 | 135809918 | Human | | name |
| 597964702 | CV3848139 | single nucleotide variant | NM_002299.4(LCT):c.2532G>T (p.Lys844Asn) | not provided [RCV005194018] | uncertain significance | 2 | 135809815 | 135809815 | Human | | name |
| 598175388 | CV3984250 | single nucleotide variant | NM_002299.4(LCT):c.1724T>G (p.Leu575Arg) | Inborn genetic diseases [RCV005371257] | uncertain significance | 2 | 135812940 | 135812940 | Human | 1 | name |
| 598198476 | CV3984254 | single nucleotide variant | NM_002299.4(LCT):c.2786C>T (p.Pro929Leu) | Inborn genetic diseases [RCV005355494] | uncertain significance | 2 | 135809561 | 135809561 | Human | 1 | name |
| 598198481 | CV3984256 | single nucleotide variant | NM_002299.4(LCT):c.2594C>T (p.Ser865Phe) | Inborn genetic diseases [RCV005355495] | uncertain significance | 2 | 135809753 | 135809753 | Human | 1 | name |
| 8617124 | CV71031 | deletion | NM_002299.4(LCT):c.5387del (p.Asp1796fs) | Congenital lactase deficiency [RCV000049805] | likely pathogenic | 2 | 135789747 | 135789747 | Human | 1 | name |
| 15152420 | CV719257 | single nucleotide variant | NM_002299.4(LCT):c.1318G>A (p.Val440Ile) | Congenital lactase deficiency [RCV001130287]|not provided [RCV000879803] | benign | 2 | 135817730 | 135817730 | Human | 1 | name |
| 8625133 | CV80252 | single nucleotide variant | NM_002299.2(LCT):c.1948C>T (p.Gln650Ter) | Malignant melanoma [RCV000060328] | not provided | 2 | 135812716 | 135812716 | Human | | name |
| 28869831 | CV881084 | single nucleotide variant | NM_002299.4(LCT):c.2983C>T (p.His995Tyr) | Congenital lactase deficiency [RCV001130858] | uncertain significance | 2 | 135809364 | 135809364 | Human | 1 | name |
| 28869833 | CV881085 | single nucleotide variant | NM_002299.4(LCT):c.2969G>T (p.Ser990Ile) | Congenital lactase deficiency [RCV001130859] | uncertain significance | 2 | 135809378 | 135809378 | Human | 1 | name |
| 28875247 | CV881087 | single nucleotide variant | NM_002299.4(LCT):c.2819G>A (p.Gly940Glu) | Congenital lactase deficiency [RCV001133829] | uncertain significance | 2 | 135809528 | 135809528 | Human | 1 | name |
| 28875254 | CV881089 | single nucleotide variant | NM_002299.4(LCT):c.2618C>T (p.Pro873Leu) | Congenital lactase deficiency [RCV001133831] | uncertain significance | 2 | 135809729 | 135809729 | Human | 1 | name |
| 28878844 | CV881091 | single nucleotide variant | NM_002299.4(LCT):c.2310A>C (p.Leu770Phe) | Congenital lactase deficiency [RCV001135324]|Inborn genetic diseases [RCV004032300]|not provided [RCV002556885] | uncertain significance | 2 | 135812354 | 135812354 | Human | 2 | name |
| 28878846 | CV881092 | single nucleotide variant | NM_002299.4(LCT):c.2293C>A (p.Leu765Ile) | Congenital lactase deficiency [RCV001135325]|not provided [RCV001856727] | uncertain significance | 2 | 135812371 | 135812371 | Human | 1 | name |
| 28878850 | CV881093 | single nucleotide variant | NM_002299.4(LCT):c.1931C>T (p.Thr644Ile) | Congenital lactase deficiency [RCV001135326]|not provided [RCV002556886] | uncertain significance | 2 | 135812733 | 135812733 | Human | 1 | name |
| 28870084 | CV881097 | single nucleotide variant | NM_002299.4(LCT):c.1004C>G (p.Thr335Ser) | Congenital lactase deficiency [RCV001130996]|Inborn genetic diseases [RCV002556835] | uncertain significance | 2 | 135818044 | 135818044 | Human | 2 | name |
| 34891073 | CV905883 | single nucleotide variant | NM_002299.4(LCT):c.2761G>T (p.Ala921Ser) | Inborn genetic diseases [RCV003284013]|not provided [RCV001873650]|not specified [RCV001174744] | uncertain significance | 2 | 135809586 | 135809586 | Human | 1 | name |
| 126748287 | CV1003199 | single nucleotide variant | NM_002299.4(LCT):c.5722C>T (p.Arg1908Cys) | Congenital lactase deficiency [RCV004720306]|not provided [RCV001326313] | likely benign|uncertain significance | 2 | 135788386 | 135788386 | Human | 1 | name |
| 126746815 | CV1003200 | single nucleotide variant | NM_002299.4(LCT):c.4496C>T (p.Thr1499Met) | not provided [RCV001315252] | uncertain significance | 2 | 135804097 | 135804097 | Human | | name |
| 126736165 | CV1019452 | single nucleotide variant | NM_002299.4(LCT):c.5723G>A (p.Arg1908His) | Congenital lactase deficiency [RCV001335019] | uncertain significance | 2 | 135788385 | 135788385 | Human | 1 | name |
| 126757601 | CV1023693 | single nucleotide variant | NM_002299.4(LCT):c.4750G>A (p.Asp1584Asn) | not provided [RCV001339611] | uncertain significance | 2 | 135800723 | 135800723 | Human | | name |
| 126912324 | CV1040536 | single nucleotide variant | NM_002299.4(LCT):c.4193C>A (p.Ala1398Glu) | not provided [RCV001369675] | uncertain significance | 2 | 135805038 | 135805038 | Human | | name |
| 151859662 | CV1337360 | single nucleotide variant | NM_002299.4(LCT):c.4458G>C (p.Gln1486His) | Inborn genetic diseases [RCV004988931]|not provided [RCV001923838] | uncertain significance | 2 | 135804773 | 135804773 | Human | 1 | name |
| 151859672 | CV1337361 | single nucleotide variant | NM_002299.4(LCT):c.3094G>A (p.Gly1032Ser) | not provided [RCV001923839] | uncertain significance | 2 | 135809253 | 135809253 | Human | | name |
| 151777506 | CV1342723 | single nucleotide variant | NM_002299.4(LCT):c.3712C>G (p.Pro1238Ala) | not provided [RCV001988823] | uncertain significance | 2 | 135808635 | 135808635 | Human | | name |
| 151760691 | CV1343260 | single nucleotide variant | NM_002299.4(LCT):c.4866G>T (p.Gln1622His) | not provided [RCV002024330] | uncertain significance | 2 | 135800607 | 135800607 | Human | | name |
| 151829931 | CV1343385 | single nucleotide variant | NM_002299.4(LCT):c.4198G>A (p.Gly1400Ser) | Congenital lactase deficiency [RCV003483858]|Inborn genetic diseases [RCV002555802]|not provided [RCV001920392] | uncertain significance|not provided | 2 | 135805033 | 135805033 | Human | 2 | name |
| 151867661 | CV1348613 | single nucleotide variant | NM_002299.4(LCT):c.4060T>G (p.Tyr1354Asp) | not provided [RCV001924806] | uncertain significance | 2 | 135807241 | 135807241 | Human | | name |
| 151758691 | CV1349873 | single nucleotide variant | NM_002299.4(LCT):c.4294A>G (p.Ile1432Val) | not provided [RCV001987011] | uncertain significance | 2 | 135804937 | 135804937 | Human | | name |
| 151740398 | CV1352605 | single nucleotide variant | NM_002299.4(LCT):c.4120T>C (p.Tyr1374His) | not provided [RCV001870962] | uncertain significance | 2 | 135807181 | 135807181 | Human | | name |
| 151831179 | CV1359095 | single nucleotide variant | NM_002299.4(LCT):c.4934G>A (p.Arg1645Gln) | not provided [RCV001993727] | uncertain significance | 2 | 135798071 | 135798071 | Human | | name |
| 151842354 | CV1359289 | single nucleotide variant | NM_002299.4(LCT):c.3013A>G (p.Asn1005Asp) | not provided [RCV002015489] | uncertain significance | 2 | 135809334 | 135809334 | Human | | name |
| 151865251 | CV1370967 | single nucleotide variant | NM_002299.4(LCT):c.4568T>G (p.Phe1523Cys) | not provided [RCV001884453] | uncertain significance | 2 | 135804025 | 135804025 | Human | | name |
| 151813011 | CV1373111 | single nucleotide variant | NM_002299.4(LCT):c.3829G>A (p.Gly1277Arg) | not provided [RCV001900136] | uncertain significance | 2 | 135808518 | 135808518 | Human | | name |
| 151831369 | CV1373377 | single nucleotide variant | NM_002299.4(LCT):c.5170A>G (p.Met1724Val) | not provided [RCV001901843] | uncertain significance | 2 | 135790823 | 135790823 | Human | | name |
| 151712329 | CV1374614 | single nucleotide variant | NM_002299.4(LCT):c.5647G>A (p.Ala1883Thr) | not provided [RCV001908264] | uncertain significance | 2 | 135788461 | 135788461 | Human | | name |
| 151835864 | CV1374876 | single nucleotide variant | NM_002299.4(LCT):c.4054G>A (p.Ala1352Thr) | not provided [RCV001920968] | uncertain significance | 2 | 135807247 | 135807247 | Human | | name |
| 151881872 | CV1375750 | single nucleotide variant | NM_002299.4(LCT):c.3857C>T (p.Thr1286Ile) | Inborn genetic diseases [RCV003170254]|not provided [RCV001961812] | uncertain significance | 2 | 135808490 | 135808490 | Human | 1 | name |
| 151853758 | CV1376358 | single nucleotide variant | NM_002299.4(LCT):c.4351A>G (p.Ile1451Val) | Inborn genetic diseases [RCV002642048]|not provided [RCV001996285] | uncertain significance | 2 | 135804880 | 135804880 | Human | 1 | name |
| 151878367 | CV1387216 | single nucleotide variant | NM_002299.4(LCT):c.3623C>T (p.Thr1208Met) | not provided [RCV001940679] | uncertain significance | 2 | 135808724 | 135808724 | Human | | name |
| 151755177 | CV1387711 | single nucleotide variant | NM_002299.4(LCT):c.4942G>C (p.Asp1648His) | not provided [RCV001969598] | uncertain significance | 2 | 135798063 | 135798063 | Human | | name |
| 151820602 | CV1388654 | single nucleotide variant | NM_002299.4(LCT):c.5448T>G (p.Ser1816Arg) | not provided [RCV001975687] | uncertain significance | 2 | 135789686 | 135789686 | Human | | name |
| 151742733 | CV1389366 | single nucleotide variant | NM_002299.4(LCT):c.4643G>A (p.Gly1548Asp) | not provided [RCV002042395] | uncertain significance | 2 | 135803950 | 135803950 | Human | | name |
| 151737583 | CV1389860 | single nucleotide variant | NM_002299.4(LCT):c.3395A>G (p.Lys1132Arg) | not provided [RCV001892939] | uncertain significance | 2 | 135808952 | 135808952 | Human | | name |
| 151738286 | CV1389995 | single nucleotide variant | NM_002299.4(LCT):c.5728A>C (p.Lys1910Gln) | not provided [RCV001893012] | uncertain significance | 2 | 135788380 | 135788380 | Human | | name |
| 151834573 | CV1394188 | single nucleotide variant | NM_002299.4(LCT):c.3827T>C (p.Val1276Ala) | not provided [RCV002051067] | uncertain significance | 2 | 135808520 | 135808520 | Human | | name |
| 151752899 | CV1398175 | single nucleotide variant | NM_002299.4(LCT):c.4463A>C (p.Gln1488Pro) | not provided [RCV001969376] | uncertain significance | 2 | 135804768 | 135804768 | Human | | name |
| 151790927 | CV1402883 | single nucleotide variant | NM_002299.4(LCT):c.5404A>G (p.Thr1802Ala) | Inborn genetic diseases [RCV002553638]|not provided [RCV001898173] | uncertain significance | 2 | 135789730 | 135789730 | Human | 1 | name |
| 151891546 | CV1410128 | single nucleotide variant | NM_002299.4(LCT):c.3932G>A (p.Arg1311Gln) | not provided [RCV001943412] | uncertain significance | 2 | 135807369 | 135807369 | Human | | name |
| 151751238 | CV1412074 | single nucleotide variant | NM_002299.4(LCT):c.5712G>C (p.Lys1904Asn) | not provided [RCV001927539] | uncertain significance | 2 | 135788396 | 135788396 | Human | | name |
| 151788236 | CV1412986 | single nucleotide variant | NM_002299.4(LCT):c.3437T>A (p.Met1146Lys) | not provided [RCV001989813] | uncertain significance | 2 | 135808910 | 135808910 | Human | | name |
| 151810006 | CV1417292 | single nucleotide variant | NM_002299.4(LCT):c.3998G>T (p.Gly1333Val) | not provided [RCV002028877] | uncertain significance | 2 | 135807303 | 135807303 | Human | | name |
| 151886008 | CV1418441 | single nucleotide variant | NM_002299.4(LCT):c.3760C>G (p.Arg1254Gly) | not provided [RCV001887472] | uncertain significance | 2 | 135808587 | 135808587 | Human | | name |
| 151730259 | CV1420468 | single nucleotide variant | NM_002299.4(LCT):c.3913C>T (p.Leu1305Phe) | not provided [RCV002041122] | uncertain significance | 2 | 135807388 | 135807388 | Human | | name |
| 151793370 | CV1422411 | single nucleotide variant | NM_002299.4(LCT):c.3199A>G (p.Met1067Val) | not provided [RCV001898391] | uncertain significance | 2 | 135809148 | 135809148 | Human | | name |
| 151738755 | CV1428854 | single nucleotide variant | NM_002299.4(LCT):c.3947G>C (p.Trp1316Ser) | Congenital lactase deficiency [RCV004720352]|not provided [RCV002022110] | likely benign|uncertain significance | 2 | 135807354 | 135807354 | Human | 1 | name |
| 151886552 | CV1435797 | single nucleotide variant | NM_002299.4(LCT):c.3350A>G (p.Lys1117Arg) | not provided [RCV001962784] | uncertain significance | 2 | 135808997 | 135808997 | Human | | name |
| 151776271 | CV1440300 | single nucleotide variant | NM_002299.4(LCT):c.3716C>T (p.Ser1239Leu) | not provided [RCV001874931] | uncertain significance | 2 | 135808631 | 135808631 | Human | | name |
| 151711154 | CV1443721 | single nucleotide variant | NM_002299.4(LCT):c.4175T>C (p.Ile1392Thr) | not provided [RCV001908034] | uncertain significance | 2 | 135805056 | 135805056 | Human | | name |
| 151780283 | CV1446234 | single nucleotide variant | NM_002299.4(LCT):c.4421T>C (p.Val1474Ala) | not provided [RCV001989067] | uncertain significance | 2 | 135804810 | 135804810 | Human | | name |
| 151813960 | CV1448191 | single nucleotide variant | NM_002299.4(LCT):c.4924A>T (p.Met1642Leu) | not provided [RCV001918895] | uncertain significance | 2 | 135798081 | 135798081 | Human | | name |
| 151740655 | CV1451874 | single nucleotide variant | NM_002299.4(LCT):c.3665A>G (p.Asn1222Ser) | not provided [RCV002022297] | uncertain significance | 2 | 135808682 | 135808682 | Human | | name |
| 151824880 | CV1456569 | single nucleotide variant | NM_002299.4(LCT):c.5626G>A (p.Gly1876Ser) | Inborn genetic diseases [RCV004641703]|not provided [RCV002050158] | likely benign|uncertain significance | 2 | 135788482 | 135788482 | Human | 1 | name |
| 151738270 | CV1458212 | single nucleotide variant | NM_002299.4(LCT):c.4062C>A (p.Tyr1354Ter) | not provided [RCV001946838] | pathogenic | 2 | 135807239 | 135807239 | Human | | name |
| 151813896 | CV1460406 | single nucleotide variant | NM_002299.4(LCT):c.5128G>A (p.Ala1710Thr) | not provided [RCV001878543] | uncertain significance | 2 | 135790865 | 135790865 | Human | | name |
| 151777902 | CV1463228 | single nucleotide variant | NM_002299.4(LCT):c.3660G>T (p.Arg1220Ser) | Inborn genetic diseases [RCV005361783]|not provided [RCV001875083] | likely benign|uncertain significance | 2 | 135808687 | 135808687 | Human | 1 | name |
| 151797563 | CV1467742 | single nucleotide variant | NM_002299.4(LCT):c.3728C>T (p.Thr1243Met) | not provided [RCV001952616] | uncertain significance | 2 | 135808619 | 135808619 | Human | | name |
| 151719510 | CV1468711 | single nucleotide variant | NM_002299.4(LCT):c.4858T>C (p.Tyr1620His) | not provided [RCV002003445] | uncertain significance | 2 | 135800615 | 135800615 | Human | | name |
| 151871737 | CV1480549 | single nucleotide variant | NM_002299.4(LCT):c.5381C>T (p.Ala1794Val) | Inborn genetic diseases [RCV002555404]|not provided [RCV001906576] | likely benign|uncertain significance | 2 | 135789753 | 135789753 | Human | 1 | name |
| 151860398 | CV1482951 | single nucleotide variant | NM_002299.4(LCT):c.3535C>T (p.Gln1179Ter) | Congenital lactase deficiency [RCV002506946]|not provided [RCV001883845] | pathogenic | 2 | 135808812 | 135808812 | Human | 1 | name |
| 151808172 | CV1483463 | single nucleotide variant | NM_002299.4(LCT):c.4126C>T (p.Arg1376Trp) | not provided [RCV001918346] | uncertain significance | 2 | 135807175 | 135807175 | Human | | name |
| 151853210 | CV1486787 | single nucleotide variant | NM_002299.4(LCT):c.5669T>A (p.Leu1890His) | not provided [RCV001937629] | uncertain significance | 2 | 135788439 | 135788439 | Human | | name |
| 151749323 | CV1487530 | single nucleotide variant | NM_002299.4(LCT):c.5486A>G (p.Lys1829Arg) | not provided [RCV001947974] | uncertain significance | 2 | 135789648 | 135789648 | Human | | name |
| 151835018 | CV1489197 | single nucleotide variant | NM_002299.4(LCT):c.3904G>T (p.Ala1302Ser) | not provided [RCV001902200] | uncertain significance | 2 | 135808443 | 135808443 | Human | | name |
| 151791093 | CV1489916 | single nucleotide variant | NM_002299.4(LCT):c.3655C>T (p.Pro1219Ser) | Inborn genetic diseases [RCV004641792]|not provided [RCV001952059] | uncertain significance | 2 | 135808692 | 135808692 | Human | 1 | name |
| 151740643 | CV1490601 | single nucleotide variant | NM_002299.4(LCT):c.3805A>G (p.Ile1269Val) | Inborn genetic diseases [RCV004988982]|not provided [RCV001985209] | uncertain significance | 2 | 135808542 | 135808542 | Human | 1 | name |
| 151667800 | CV1495022 | single nucleotide variant | NM_002299.4(LCT):c.3629A>G (p.Tyr1210Cys) | not provided [RCV002001496] | uncertain significance | 2 | 135808718 | 135808718 | Human | | name |
| 151886734 | CV1495808 | single nucleotide variant | NM_002299.4(LCT):c.3427G>A (p.Ala1143Thr) | not provided [RCV001887629] | uncertain significance | 2 | 135808920 | 135808920 | Human | | name |
| 151887145 | CV1496110 | single nucleotide variant | NM_002299.4(LCT):c.3058C>T (p.His1020Tyr) | not provided [RCV001887706] | uncertain significance | 2 | 135809289 | 135809289 | Human | | name |
| 151762715 | CV1499226 | single nucleotide variant | NM_002299.4(LCT):c.5761T>G (p.Leu1921Val) | not provided [RCV001863289] | uncertain significance | 2 | 135788347 | 135788347 | Human | | name |
| 151744798 | CV1501539 | single nucleotide variant | NM_002299.4(LCT):c.3730G>A (p.Ala1244Thr) | not provided [RCV002042613] | uncertain significance | 2 | 135808617 | 135808617 | Human | | name |
| 151709140 | CV1507788 | single nucleotide variant | NM_002299.4(LCT):c.5572C>T (p.Pro1858Ser) | not provided [RCV002001590] | uncertain significance | 2 | 135788536 | 135788536 | Human | | name |
| 151749856 | CV1512054 | single nucleotide variant | NM_002299.4(LCT):c.4447G>A (p.Ala1483Thr) | not provided [RCV001986173] | uncertain significance | 2 | 135804784 | 135804784 | Human | | name |
| 155749750 | CV1772173 | single nucleotide variant | NM_002299.4(LCT):c.5459T>G (p.Leu1820Arg) | not provided [RCV002304978] | uncertain significance | 2 | 135789675 | 135789675 | Human | | name |
| 155695318 | CV1776999 | single nucleotide variant | NM_002299.4(LCT):c.5722C>A (p.Arg1908Ser) | not provided [RCV002295176] | uncertain significance | 2 | 135788386 | 135788386 | Human | | name |
| 155698909 | CV1777367 | single nucleotide variant | NM_002299.4(LCT):c.3797A>G (p.Asp1266Gly) | not provided [RCV002295491] | uncertain significance | 2 | 135808550 | 135808550 | Human | | name |
| 155706678 | CV1778367 | single nucleotide variant | NM_002299.4(LCT):c.5581A>G (p.Ser1861Gly) | not provided [RCV002295985] | uncertain significance | 2 | 135788527 | 135788527 | Human | | name |
| 155708041 | CV1778461 | single nucleotide variant | NM_002299.4(LCT):c.3017G>T (p.Gly1006Val) | not provided [RCV002296062] | uncertain significance | 2 | 135809330 | 135809330 | Human | | name |
| 155970242 | CV1888931 | single nucleotide variant | NM_002299.4(LCT):c.3746C>T (p.Ala1249Val) | not provided [RCV003075142] | likely benign | 2 | 135808601 | 135808601 | Human | | name |
| 156282041 | CV1896851 | single nucleotide variant | NM_002299.4(LCT):c.4127G>A (p.Arg1376Gln) | Inborn genetic diseases [RCV003090412]|not provided [RCV003087151] | likely benign|uncertain significance | 2 | 135807174 | 135807174 | Human | 1 | name |
| 156025470 | CV1917553 | single nucleotide variant | NM_002299.4(LCT):c.3409C>T (p.Pro1137Ser) | not provided [RCV002619608] | uncertain significance | 2 | 135808938 | 135808938 | Human | | name |
| 156235999 | CV1952783 | single nucleotide variant | NM_002299.4(LCT):c.4055C>T (p.Ala1352Val) | not provided [RCV002576054] | uncertain significance | 2 | 135807246 | 135807246 | Human | | name |
| 156415411 | CV1958408 | single nucleotide variant | NM_002299.4(LCT):c.3362C>T (p.Ser1121Leu) | not provided [RCV002589153] | uncertain significance | 2 | 135808985 | 135808985 | Human | | name |
| 156253976 | CV1967334 | single nucleotide variant | NM_002299.4(LCT):c.3604G>A (p.Asp1202Asn) | not provided [RCV002597563] | uncertain significance | 2 | 135808743 | 135808743 | Human | | name |
| 156355668 | CV1975097 | single nucleotide variant | NM_002299.4(LCT):c.4696A>G (p.Ile1566Val) | Inborn genetic diseases [RCV004983031]|not provided [RCV002602143] | uncertain significance | 2 | 135800777 | 135800777 | Human | 1 | name |
| 155910866 | CV1980147 | single nucleotide variant | NM_002299.4(LCT):c.3607G>A (p.Val1203Ile) | not provided [RCV002613980] | uncertain significance | 2 | 135808740 | 135808740 | Human | | name |
| 156327747 | CV1982343 | single nucleotide variant | NM_002299.4(LCT):c.4261A>G (p.Ile1421Val) | not provided [RCV002649651] | uncertain significance | 2 | 135804970 | 135804970 | Human | | name |
| 156234193 | CV1982344 | single nucleotide variant | NM_002299.4(LCT):c.3253G>A (p.Asp1085Asn) | not provided [RCV002626906] | uncertain significance | 2 | 135809094 | 135809094 | Human | | name |
| 156414644 | CV1982910 | single nucleotide variant | NM_002299.4(LCT):c.3424G>A (p.Ala1142Thr) | not provided [RCV002609298] | uncertain significance | 2 | 135808923 | 135808923 | Human | | name |
| 156393224 | CV1987941 | single nucleotide variant | NM_002299.4(LCT):c.4432G>A (p.Asp1478Asn) | not provided [RCV002635190] | uncertain significance | 2 | 135804799 | 135804799 | Human | | name |
| 156106944 | CV1996720 | single nucleotide variant | NM_002299.4(LCT):c.4540C>T (p.Arg1514Trp) | not provided [RCV002662331] | uncertain significance | 2 | 135804053 | 135804053 | Human | | name |
| 156043038 | CV1999114 | single nucleotide variant | NM_002299.4(LCT):c.3279A>G (p.Ile1093Met) | not provided [RCV002659111] | uncertain significance | 2 | 135809068 | 135809068 | Human | | name |
| 156027281 | CV2004675 | single nucleotide variant | NM_002299.4(LCT):c.4975C>T (p.Arg1659Trp) | not provided [RCV002658509] | uncertain significance | 2 | 135798030 | 135798030 | Human | | name |
| 156098900 | CV2009619 | single nucleotide variant | NM_002299.4(LCT):c.3592A>G (p.Arg1198Gly) | Inborn genetic diseases [RCV002706592]|not provided [RCV002715611] | uncertain significance | 2 | 135808755 | 135808755 | Human | 1 | name |
| 156208616 | CV2042427 | single nucleotide variant | NM_002299.4(LCT):c.3839A>G (p.Asn1280Ser) | not provided [RCV002766512] | uncertain significance | 2 | 135808508 | 135808508 | Human | | name |
| 155952311 | CV2058832 | single nucleotide variant | NM_002299.4(LCT):c.4479C>G (p.His1493Gln) | not provided [RCV002816334] | uncertain significance | 2 | 135804114 | 135804114 | Human | | name |
| 156010357 | CV2079584 | single nucleotide variant | NM_002299.4(LCT):c.3458G>A (p.Trp1153Ter) | not provided [RCV002866071] | pathogenic | 2 | 135808889 | 135808889 | Human | | name |
| 156207373 | CV2103823 | single nucleotide variant | NM_002299.4(LCT):c.4040C>T (p.Thr1347Ile) | not provided [RCV002931919] | uncertain significance | 2 | 135807261 | 135807261 | Human | | name |
| 155947721 | CV2150988 | single nucleotide variant | NM_002299.4(LCT):c.3622A>G (p.Thr1208Ala) | Inborn genetic diseases [RCV004632150]|not provided [RCV003014669] | uncertain significance | 2 | 135808725 | 135808725 | Human | 1 | name |
| 156295769 | CV2153120 | single nucleotide variant | NM_002299.4(LCT):c.4184C>T (p.Ala1395Val) | not provided [RCV003010156] | uncertain significance | 2 | 135805047 | 135805047 | Human | | name |
| 8559425 | CV21625 | single nucleotide variant | NM_002299.4(LCT):c.4170T>A (p.Tyr1390Ter) | Congenital lactase deficiency [RCV000006964]|not provided [RCV005089197] | pathogenic | 2 | 135807131 | 135807131 | Human | 1 | name |
| 155957077 | CV2162868 | single nucleotide variant | NM_002299.4(LCT):c.3334T>C (p.Tyr1112His) | not provided [RCV003015161] | uncertain significance | 2 | 135809013 | 135809013 | Human | | name |
| 156100993 | CV2164352 | single nucleotide variant | NM_002299.4(LCT):c.5766C>G (p.Ser1922Arg) | not provided [RCV003038583] | uncertain significance | 2 | 135788342 | 135788342 | Human | | name |
| 156164971 | CV2169548 | single nucleotide variant | NM_002299.4(LCT):c.3688C>A (p.Gln1230Lys) | not provided [RCV003023332] | uncertain significance | 2 | 135808659 | 135808659 | Human | | name |
| 155962750 | CV2183649 | single nucleotide variant | NM_002299.4(LCT):c.3518G>T (p.Gly1173Val) | not provided [RCV003033023] | uncertain significance | 2 | 135808829 | 135808829 | Human | | name |
| 156399966 | CV2202330 | single nucleotide variant | NM_002299.4(LCT):c.4403C>T (p.Ala1468Val) | Inborn genetic diseases [RCV002656284] | uncertain significance | 2 | 135804828 | 135804828 | Human | 1 | name |
| 155977177 | CV2218694 | single nucleotide variant | NM_002299.4(LCT):c.5078A>G (p.Tyr1693Cys) | Inborn genetic diseases [RCV002688028] | uncertain significance | 2 | 135794674 | 135794674 | Human | 1 | name |
| 156284778 | CV2232741 | single nucleotide variant | NM_002299.4(LCT):c.4255G>A (p.Asp1419Asn) | Inborn genetic diseases [RCV002747333] | uncertain significance | 2 | 135804976 | 135804976 | Human | 1 | name |
| 156076770 | CV2248355 | single nucleotide variant | NM_002299.4(LCT):c.5174C>T (p.Thr1725Met) | Inborn genetic diseases [RCV002783487] | uncertain significance | 2 | 135790819 | 135790819 | Human | 1 | name |
| 156200308 | CV2256070 | single nucleotide variant | NM_002299.4(LCT):c.5135G>A (p.Arg1712His) | Inborn genetic diseases [RCV002803415] | uncertain significance | 2 | 135790858 | 135790858 | Human | 1 | name |
| 156093174 | CV2256726 | single nucleotide variant | NM_002299.4(LCT):c.3259G>A (p.Gly1087Ser) | Inborn genetic diseases [RCV002798638] | uncertain significance | 2 | 135809088 | 135809088 | Human | 1 | name |
| 156335186 | CV2272772 | single nucleotide variant | NM_002299.4(LCT):c.5620A>G (p.Met1874Val) | Inborn genetic diseases [RCV002835665] | uncertain significance | 2 | 135788488 | 135788488 | Human | 1 | name |
| 156290310 | CV2309809 | single nucleotide variant | NM_002299.4(LCT):c.5710A>C (p.Lys1904Gln) | Inborn genetic diseases [RCV002897127] | uncertain significance | 2 | 135788398 | 135788398 | Human | 1 | name |
| 156292544 | CV2321222 | single nucleotide variant | NM_002299.4(LCT):c.3980G>C (p.Gly1327Ala) | Inborn genetic diseases [RCV002935720] | uncertain significance | 2 | 135807321 | 135807321 | Human | 1 | name |
| 156326312 | CV2335444 | single nucleotide variant | NM_002299.4(LCT):c.5768C>T (p.Pro1923Leu) | Inborn genetic diseases [RCV002963637] | uncertain significance | 2 | 135788340 | 135788340 | Human | 1 | name |
| 155935189 | CV2371745 | single nucleotide variant | NM_002299.4(LCT):c.4196A>G (p.Asp1399Gly) | Inborn genetic diseases [RCV002684764] | uncertain significance | 2 | 135805035 | 135805035 | Human | 1 | name |
| 329400641 | CV2438600 | single nucleotide variant | NM_002299.4(LCT):c.3554G>A (p.Arg1185His) | Inborn genetic diseases [RCV003197641] | uncertain significance | 2 | 135808793 | 135808793 | Human | 1 | name |
| 329401804 | CV2457438 | single nucleotide variant | NM_002299.4(LCT):c.5360G>C (p.Arg1787Pro) | Inborn genetic diseases [RCV003198818] | uncertain significance | 2 | 135789774 | 135789774 | Human | 1 | name |
| 401740986 | CV2680522 | single nucleotide variant | NM_002299.4(LCT):c.5302T>C (p.Tyr1768His) | Inborn genetic diseases [RCV003240788] | uncertain significance | 2 | 135790691 | 135790691 | Human | 1 | name |
| 401730946 | CV2711579 | single nucleotide variant | NM_002299.4(LCT):c.4067C>T (p.Thr1356Ile) | Inborn genetic diseases [RCV003271560] | uncertain significance | 2 | 135807234 | 135807234 | Human | 1 | name |
| 401749488 | CV2712372 | single nucleotide variant | NM_002299.4(LCT):c.4762G>T (p.Ala1588Ser) | Inborn genetic diseases [RCV003294901] | uncertain significance | 2 | 135800711 | 135800711 | Human | 1 | name |
| 401865924 | CV2778924 | single nucleotide variant | NM_002299.4(LCT):c.4507G>A (p.Val1503Ile) | Inborn genetic diseases [RCV003359768] | uncertain significance | 2 | 135804086 | 135804086 | Human | 1 | name |
| 11578940 | CV281851 | single nucleotide variant | NM_002299.4(LCT):c.4922T>C (p.Val1641Ala) | Congenital lactase deficiency [RCV000392927]|Lactose intolerance [RCV000292131]|not provided [RCV001859964] | uncertain significance | 2 | 135798083 | 135798083 | Human | 3 | name |
| 11579698 | CV281852 | single nucleotide variant | NM_002299.4(LCT):c.4777G>A (p.Val1593Met) | Congenital lactase deficiency [RCV000344130]|Lactose intolerance [RCV000310179]|not provided [RCV001515976] | benign|likely benign | 2 | 135800696 | 135800696 | Human | 3 | name |
| 11578346 | CV281867 | single nucleotide variant | NM_002299.4(LCT):c.3286G>A (p.Ala1096Thr) | Congenital lactase deficiency [RCV000279445]|Inborn genetic diseases [RCV002521291]|Lactose intolerance [RCV000350754]|not provided [RCV001859967] | uncertain significance | 2 | 135809061 | 135809061 | Human | 4 | name |
| 11580219 | CV282506 | single nucleotide variant | NM_002299.4(LCT):c.5768C>A (p.Pro1923Gln) | Congenital lactase deficiency [RCV000360630]|LCT-related disorder [RCV003972396]|Lactose intolerance [RCV000326698]|not provided [RCV000955964] | benign|likely benign | 2 | 135788340 | 135788340 | Human | 3 | name , trait , alternate_id |
| 11580944 | CV282507 | single nucleotide variant | NM_002299.4(LCT):c.4916A>G (p.Asn1639Ser) | Congenital lactase deficiency [RCV000349439]|Lactose intolerance [RCV000392923]|not provided [RCV001511195]|not specified [RCV001528850] | benign | 2 | 135798089 | 135798089 | Human | 3 | name |
| 11579849 | CV282510 | single nucleotide variant | NM_002299.4(LCT):c.3848C>T (p.Thr1283Met) | Congenital lactase deficiency [RCV000314392]|LCT-related disorder [RCV003910276]|Lactose intolerance [RCV000371150]|not provided [RCV001859966] | likely benign|uncertain significance | 2 | 135808499 | 135808499 | Human | 3 | name , trait , alternate_id |
| 401917494 | CV2829886 | single nucleotide variant | NM_002299.4(LCT):c.5516G>A (p.Gly1839Asp) | not provided [RCV003443930] | uncertain significance | 2 | 135789618 | 135789618 | Human | | name |
| 11577641 | CV284150 | single nucleotide variant | NM_002299.4(LCT):c.4646A>G (p.Tyr1549Cys) | Congenital lactase deficiency [RCV000264426]|Inborn genetic diseases [RCV004021763]|Lactose intolerance [RCV000361273]|not provided [RCV001367398] | uncertain significance | 2 | 135803947 | 135803947 | Human | 4 | name |
| 11578037 | CV284158 | single nucleotide variant | NM_002299.4(LCT):c.3599C>T (p.Thr1200Met) | Congenital lactase deficiency [RCV000272852]|Lactose intolerance [RCV000384035] | uncertain significance | 2 | 135808748 | 135808748 | Human | 3 | name |
| 11580569 | CV284161 | single nucleotide variant | NM_002299.4(LCT):c.3341A>G (p.Gln1114Arg) | Congenital lactase deficiency [RCV000337452]|Inborn genetic diseases [RCV002521290]|LCT-related disorder [RCV003922417]|Lactose intolerance [RCV000392216]|not provided [RCV001500980] | likely benign|uncertain significance | 2 | 135809006 | 135809006 | Human | 4 | name , trait , alternate_id |
| 11646199 | CV284368 | single nucleotide variant | NM_002299.4(LCT):c.5771T>C (p.Val1924Ala) | Congenital lactase deficiency [RCV000366268]|Lactose intolerance [RCV000269250] | uncertain significance | 2 | 135788337 | 135788337 | Human | 3 | name |
| 11577824 | CV284372 | single nucleotide variant | NM_002299.4(LCT):c.5656G>A (p.Val1886Ile) | Congenital lactase deficiency [RCV000268234]|Inborn genetic diseases [RCV002521287]|Lactose intolerance [RCV000321074] | uncertain significance | 2 | 135788452 | 135788452 | Human | 4 | name |
| 11577501 | CV284375 | single nucleotide variant | NM_002299.4(LCT):c.3986C>T (p.Thr1329Met) | Congenital lactase deficiency [RCV000261490]|Lactose intolerance [RCV000353910]|not provided [RCV001859965] | uncertain significance | 2 | 135807315 | 135807315 | Human | 3 | name |
| 11655430 | CV284376 | single nucleotide variant | NM_002299.4(LCT):c.3595G>A (p.Ala1199Thr) | Congenital lactase deficiency [RCV000382441]|Lactose intolerance [RCV000325589] | uncertain significance | 2 | 135808752 | 135808752 | Human | 3 | name |
| 402523245 | CV2867614 | single nucleotide variant | NM_002299.4(LCT):c.3290T>C (p.Val1097Ala) | not provided [RCV003547898] | uncertain significance | 2 | 135809057 | 135809057 | Human | | name |
| 405223938 | CV2982739 | single nucleotide variant | NM_002299.4(LCT):c.4425G>T (p.Arg1475Ser) | not provided [RCV003681058] | uncertain significance | 2 | 135804806 | 135804806 | Human | | name |
| 404998978 | CV3008944 | single nucleotide variant | NM_002299.4(LCT):c.4123G>A (p.Gly1375Arg) | not provided [RCV003692985] | uncertain significance | 2 | 135807178 | 135807178 | Human | | name |
| 402503119 | CV3035595 | single nucleotide variant | NM_002299.4(LCT):c.4343G>A (p.Arg1448His) | not provided [RCV003714858] | uncertain significance | 2 | 135804888 | 135804888 | Human | | name |
| 405139713 | CV3045462 | single nucleotide variant | NM_002299.4(LCT):c.5726C>G (p.Ser1909Cys) | not provided [RCV003725542] | uncertain significance | 2 | 135788382 | 135788382 | Human | | name |
| 405143342 | CV3126067 | single nucleotide variant | NM_002299.4(LCT):c.4762G>A (p.Ala1588Thr) | not provided [RCV003816983] | uncertain significance | 2 | 135800711 | 135800711 | Human | | name |
| 405122984 | CV3126325 | single nucleotide variant | NM_002299.4(LCT):c.3679G>A (p.Glu1227Lys) | not provided [RCV003815077] | uncertain significance | 2 | 135808668 | 135808668 | Human | | name |
| 402515344 | CV3178882 | single nucleotide variant | NM_002299.4(LCT):c.3931C>T (p.Arg1311Ter) | not provided [RCV003879315] | pathogenic | 2 | 135807370 | 135807370 | Human | | name |
| 405289422 | CV3218271 | single nucleotide variant | NM_002299.4(LCT):c.5321A>G (p.Asn1774Ser) | LCT-related disorder [RCV003983673] | uncertain significance | 2 | 135790672 | 135790672 | Human | | name , trait , alternate_id |
| 405817568 | CV3280047 | single nucleotide variant | NM_002299.4(LCT):c.3320C>T (p.Thr1107Met) | Inborn genetic diseases [RCV004412554] | uncertain significance | 2 | 135809027 | 135809027 | Human | 1 | name |
| 405817569 | CV3280048 | single nucleotide variant | NM_002299.4(LCT):c.3842C>T (p.Pro1281Leu) | Inborn genetic diseases [RCV004412555] | uncertain significance | 2 | 135808505 | 135808505 | Human | 1 | name |
| 405817570 | CV3280049 | single nucleotide variant | NM_002299.4(LCT):c.4270G>T (p.Val1424Leu) | Inborn genetic diseases [RCV004412556] | uncertain significance | 2 | 135804961 | 135804961 | Human | 1 | name |
| 405817571 | CV3280050 | single nucleotide variant | NM_002299.4(LCT):c.4850C>T (p.Ala1617Val) | Inborn genetic diseases [RCV004412557] | uncertain significance | 2 | 135800623 | 135800623 | Human | 1 | name |
| 405817572 | CV3280051 | single nucleotide variant | NM_002299.4(LCT):c.5108A>G (p.Asp1703Gly) | Inborn genetic diseases [RCV004412558] | uncertain significance | 2 | 135794644 | 135794644 | Human | 1 | name |
| 407491470 | CV3452557 | single nucleotide variant | NM_002299.4(LCT):c.4223C>T (p.Thr1408Met) | Inborn genetic diseases [RCV004642225] | uncertain significance | 2 | 135805008 | 135805008 | Human | 1 | name |
| 407491478 | CV3452559 | single nucleotide variant | NM_002299.4(LCT):c.4279G>A (p.Asp1427Asn) | Inborn genetic diseases [RCV004642227] | uncertain significance | 2 | 135804952 | 135804952 | Human | 1 | name |
| 407491481 | CV3452560 | single nucleotide variant | NM_002299.4(LCT):c.4054G>T (p.Ala1352Ser) | Inborn genetic diseases [RCV004642228] | uncertain significance | 2 | 135807247 | 135807247 | Human | 1 | name |
| 407460523 | CV3452561 | single nucleotide variant | NM_002299.4(LCT):c.5228C>T (p.Pro1743Leu) | Inborn genetic diseases [RCV004633913] | uncertain significance | 2 | 135790765 | 135790765 | Human | 1 | name |
| 407491484 | CV3452562 | single nucleotide variant | NM_002299.4(LCT):c.5158T>C (p.Phe1720Leu) | Inborn genetic diseases [RCV004642229] | uncertain significance | 2 | 135790835 | 135790835 | Human | 1 | name |
| 597696550 | CV3698837 | single nucleotide variant | NM_002299.4(LCT):c.3697G>T (p.Ala1233Ser) | Inborn genetic diseases [RCV004986521] | uncertain significance | 2 | 135808650 | 135808650 | Human | 1 | name |
| 597696555 | CV3698838 | single nucleotide variant | NM_002299.4(LCT):c.5080G>A (p.Ala1694Thr) | Inborn genetic diseases [RCV004986522] | uncertain significance | 2 | 135794672 | 135794672 | Human | 1 | name |
| 597696563 | CV3698839 | single nucleotide variant | NM_002299.4(LCT):c.4541G>A (p.Arg1514Gln) | Inborn genetic diseases [RCV004986523] | uncertain significance | 2 | 135804052 | 135804052 | Human | 1 | name |
| 597696571 | CV3698840 | single nucleotide variant | NM_002299.4(LCT):c.4072G>A (p.Val1358Ile) | Inborn genetic diseases [RCV004986524] | uncertain significance | 2 | 135807229 | 135807229 | Human | 1 | name |
| 597696583 | CV3698843 | single nucleotide variant | NM_002299.4(LCT):c.5263C>T (p.Arg1755Trp) | Inborn genetic diseases [RCV004986526] | uncertain significance | 2 | 135790730 | 135790730 | Human | 1 | name |
| 597696590 | CV3698844 | single nucleotide variant | NM_002299.4(LCT):c.4673A>G (p.Asn1558Ser) | Inborn genetic diseases [RCV004986527] | uncertain significance | 2 | 135800800 | 135800800 | Human | 1 | name |
| 597696604 | CV3698846 | single nucleotide variant | NM_002299.4(LCT):c.3063G>T (p.Trp1021Cys) | Inborn genetic diseases [RCV004986529] | uncertain significance | 2 | 135809284 | 135809284 | Human | 1 | name |
| 597696617 | CV3698848 | single nucleotide variant | NM_002299.4(LCT):c.4720G>T (p.Ala1574Ser) | Inborn genetic diseases [RCV004986531] | uncertain significance | 2 | 135800753 | 135800753 | Human | 1 | name |
| 597853856 | CV3747550 | single nucleotide variant | NM_002299.4(LCT):c.5506C>T (p.Arg1836Ter) | not provided [RCV005066561] | pathogenic | 2 | 135789628 | 135789628 | Human | | name |
| 597878835 | CV3763290 | single nucleotide variant | NM_002299.4(LCT):c.5734G>A (p.Gly1912Arg) | not provided [RCV005108885] | uncertain significance | 2 | 135788374 | 135788374 | Human | | name |
| 597877087 | CV3813342 | single nucleotide variant | NM_002299.4(LCT):c.3866T>A (p.Ile1289Lys) | not provided [RCV005149278] | uncertain significance | 2 | 135808481 | 135808481 | Human | | name |
| 597928357 | CV3837251 | single nucleotide variant | NM_002299.4(LCT):c.4028A>G (p.Asn1343Ser) | not provided [RCV005185409] | uncertain significance | 2 | 135807273 | 135807273 | Human | | name |
| 598175357 | CV3984245 | single nucleotide variant | NM_002299.4(LCT):c.4931C>T (p.Thr1644Met) | Inborn genetic diseases [RCV005371252] | uncertain significance | 2 | 135798074 | 135798074 | Human | 1 | name |
| 598175363 | CV3984246 | single nucleotide variant | NM_002299.4(LCT):c.3623C>G (p.Thr1208Arg) | Inborn genetic diseases [RCV005371253] | uncertain significance | 2 | 135808724 | 135808724 | Human | 1 | name |
| 598175368 | CV3984247 | single nucleotide variant | NM_002299.4(LCT):c.5134C>T (p.Arg1712Cys) | Inborn genetic diseases [RCV005371254] | uncertain significance | 2 | 135790859 | 135790859 | Human | 1 | name |
| 598175381 | CV3984249 | single nucleotide variant | NM_002299.4(LCT):c.3289G>A (p.Val1097Ile) | Inborn genetic diseases [RCV005371256] | likely benign | 2 | 135809058 | 135809058 | Human | 1 | name |
| 598198472 | CV3984253 | single nucleotide variant | NM_002299.4(LCT):c.3733A>T (p.Met1245Leu) | Inborn genetic diseases [RCV005355493] | likely benign | 2 | 135808614 | 135808614 | Human | 1 | name |
| 598229760 | CV3984255 | single nucleotide variant | NM_002299.4(LCT):c.3995T>G (p.Phe1332Cys) | Inborn genetic diseases [RCV005362596] | uncertain significance | 2 | 135807306 | 135807306 | Human | 1 | name |
| 14688130 | CV620031 | single nucleotide variant | NM_002299.4(LCT):c.4760G>A (p.Arg1587His) | not provided [RCV001873175] | uncertain significance | 2 | 135800713 | 135800713 | Human | | name |
| 8617120 | CV71027 | single nucleotide variant | NM_002299.4(LCT):c.4087G>A (p.Gly1363Ser) | Congenital lactase deficiency [RCV000049801] | likely pathogenic | 2 | 135807214 | 135807214 | Human | 1 | name |
| 8617121 | CV71028 | single nucleotide variant | NM_002299.4(LCT):c.4419C>G (p.Tyr1473Ter) | Congenital lactase deficiency [RCV000049802] | likely pathogenic | 2 | 135804812 | 135804812 | Human | 1 | name |
| 8617122 | CV71029 | single nucleotide variant | NM_002299.4(LCT):c.4834G>T (p.Glu1612Ter) | Congenital lactase deficiency [RCV000049803] | likely pathogenic | 2 | 135800639 | 135800639 | Human | 1 | name |
| 8625132 | CV80251 | single nucleotide variant | NM_002299.2(LCT):c.4219G>A (p.Asp1407Asn) | Malignant melanoma [RCV000060327] | not provided | 2 | 135805012 | 135805012 | Human | | name |
| 28869600 | CV881074 | single nucleotide variant | NM_002299.4(LCT):c.4714A>T (p.Ile1572Leu) | Congenital lactase deficiency [RCV001130729]|not provided [RCV001856693] | uncertain significance | 2 | 135800759 | 135800759 | Human | 1 | name |
| 28874983 | CV881075 | single nucleotide variant | NM_002299.4(LCT):c.4447G>T (p.Ala1483Ser) | Congenital lactase deficiency [RCV001133686]|not provided [RCV001873532] | likely benign|uncertain significance | 2 | 135804784 | 135804784 | Human | 1 | name |
| 28878492 | CV881080 | single nucleotide variant | NM_002299.4(LCT):c.3666C>A (p.Asn1222Lys) | Congenital lactase deficiency [RCV001135189] | uncertain significance | 2 | 135808681 | 135808681 | Human | 1 | name |
| 28868701 | CV881081 | single nucleotide variant | NM_002299.4(LCT):c.3655C>G (p.Pro1219Ala) | Congenital lactase deficiency [RCV001130150] | uncertain significance | 2 | 135808692 | 135808692 | Human | 1 | name |
| 329355149 | CV970489 | single nucleotide variant | NM_002299.4(LCT):c.4950C>A (p.Ser1650Arg) | Congenital lactase deficiency [RCV003222281] | likely pathogenic | 2 | 135798055 | 135798055 | Human | 1 | name |
| 329355154 | CV970490 | single nucleotide variant | NM_002299.4(LCT):c.4363C>T (p.Arg1455Cys) | Congenital lactase deficiency [RCV003222282] | likely pathogenic | 2 | 135804868 | 135804868 | Human | 1 | name |
| 126729745 | CV985926 | single nucleotide variant | NM_002299.4(LCT):c.3383G>A (p.Trp1128Ter) | Congenital lactase deficiency [RCV001293909] | pathogenic | 2 | 135808964 | 135808964 | Human | | name |
| 151885796 | CV1428409 | duplication | NM_002299.4(LCT):c.443_444dup (p.Asp149fs) | not provided [RCV002037836] | pathogenic | 2 | 135836725 | 135836726 | Human | | name |
| 156368230 | CV2021087 | duplication | NM_002299.4(LCT):c.386_389dup (p.Leu131fs) | not provided [RCV002721330] | pathogenic | 2 | 135836780 | 135836781 | Human | | name |
| 13211564 | CV425397 | deletion | NM_002299.4(LCT):c.584_605del (p.Leu195fs) | not provided [RCV000497620] | likely pathogenic | 2 | 135836565 | 135836586 | Human | | name |
| 8617125 | CV71032 | microsatellite | NM_002299.4(LCT):c.653_654del (p.Ser218fs) | Congenital lactase deficiency [RCV000049806] | likely pathogenic | 2 | 135833177 | 135833178 | Human | | name |
| 151775099 | CV1450331 | deletion | NM_002299.4(LCT):c.1429_1435del (p.Tyr477fs) | not provided [RCV001915357] | pathogenic | 2 | 135817613 | 135817619 | Human | | name |
| 8617119 | CV71026 | deletion | NM_002299.4(LCT):c.1692_1696del (p.Val565fs) | Congenital lactase deficiency [RCV000049800] | likely pathogenic | 2 | 135817352 | 135817356 | Human | 1 | name |
| 127259343 | CV1058916 | deletion | NM_002299.4(LCT):c.4967_4976del (p.Asn1656fs) | LCT-related disorder [RCV003983884]|not provided [RCV001387131] | pathogenic|likely pathogenic | 2 | 135798029 | 135798038 | Human | 1 | name , trait , alternate_id |
| 151824115 | CV1424858 | deletion | NM_002299.4(LCT):c.2110_2112del (p.Asp704del) | not provided [RCV001901171] | uncertain significance | 2 | 135812552 | 135812554 | Human | | name |
| 151755213 | CV1425920 | insertion | NM_002299.4(LCT):c.2110_2111insC (p.Asp704fs) | not provided [RCV002007260] | pathogenic | 2 | 135812553 | 135812554 | Human | | name |
| 8617123 | CV71030 | deletion | NM_002299.4(LCT):c.4998_5001del (p.Ser1666fs) | Congenital lactase deficiency [RCV000049804] | pathogenic|likely pathogenic | 2 | 135794751 | 135794754 | Human | 1 | name |
| 151848809 | CV1510597 | indel | NM_002299.4(LCT):c.1267_1268delinsAG (p.Gln423Arg) | not provided [RCV001957698] | uncertain significance | 2 | 135817780 | 135817781 | Human | | name |
| 152092620 | CV1593170 | indel | NM_002299.4(LCT):c.1083_1084delinsGG (p.Ile362Val) | not provided [RCV002094397] | likely benign | 2 | 135817964 | 135817965 | Human | | name |
| 156359034 | CV2162307 | microsatellite | NM_002299.4(LCT):c.742_743del (p.Ser247_Leu248insTer) | not provided [RCV003031433] | pathogenic | 2 | 135829654 | 135829655 | Human | | name |
| 405196595 | CV2976089 | insertion | NM_002299.4(LCT):c.4935_4936insTGATGAATACGCGG (p.Ile1646Ter) | not provided [RCV003677725] | pathogenic | 2 | 135798069 | 135798070 | Human | | name |
| 15186552 | CV726211 | single nucleotide variant | NM_207338.4(LCTL):c.90C>A (p.Ala30=) | not provided [RCV000887007] | benign | 15 | 66565276 | 66565276 | Human | | name |
| 15127989 | CV714563 | single nucleotide variant | NM_207338.4(LCTL):c.201C>T (p.Asp67=) | not provided [RCV000964004] | benign | 15 | 66564757 | 66564757 | Human | | name |
| 156166466 | CV2345172 | single nucleotide variant | NM_207338.4(LCTL):c.92C>G (p.Ser31Cys) | not specified [RCV004195912] | uncertain significance | 15 | 66565274 | 66565274 | Human | | name |
| 329353285 | CV2469092 | single nucleotide variant | NM_207338.4(LCTL):c.64G>T (p.Ala22Ser) | not specified [RCV004274328] | uncertain significance | 15 | 66565302 | 66565302 | Human | | name |
| 401735114 | CV2706671 | single nucleotide variant | NM_207338.4(LCTL):c.59G>A (p.Gly20Glu) | not specified [RCV004319245] | uncertain significance | 15 | 66565307 | 66565307 | Human | | name |
| 401731878 | CV2712198 | single nucleotide variant | NM_207338.4(LCTL):c.98A>G (p.Tyr33Cys) | not specified [RCV004313704] | uncertain significance | 15 | 66565268 | 66565268 | Human | | name |
| 401930048 | CV2814258 | single nucleotide variant | NM_207338.4(LCTL):c.981G>A (p.Gln327=) | not provided [RCV003390527] | likely benign | 15 | 66553200 | 66553200 | Human | | name |
| 401930050 | CV2814259 | single nucleotide variant | NM_207338.4(LCTL):c.831G>A (p.Glu277=) | not provided [RCV003390528] | likely benign | 15 | 66557813 | 66557813 | Human | | name |
| 407491499 | CV3452567 | single nucleotide variant | NM_207338.4(LCTL):c.68G>A (p.Arg23Gln) | not specified [RCV004642233] | uncertain significance | 15 | 66565298 | 66565298 | Human | | name |
| 597632399 | CV3698853 | single nucleotide variant | NM_207338.4(LCTL):c.64G>A (p.Ala22Thr) | not specified [RCV004940000] | likely benign | 15 | 66565302 | 66565302 | Human | | name |
| 15101708 | CV703295 | single nucleotide variant | NM_207338.4(LCTL):c.762T>A (p.Gly254=) | not provided [RCV000959145] | benign | 15 | 66557882 | 66557882 | Human | | name |
| 401879564 | CV2769663 | single nucleotide variant | NM_207338.4(LCTL):c.166T>A (p.Trp56Arg) | not specified [RCV004351591] | uncertain significance | 15 | 66564792 | 66564792 | Human | | name |
| 401888211 | CV2788139 | single nucleotide variant | NM_207338.4(LCTL):c.149A>T (p.Tyr50Phe) | not specified [RCV004352758] | likely benign | 15 | 66564809 | 66564809 | Human | | name |
| 407491512 | CV3452570 | single nucleotide variant | NM_207338.4(LCTL):c.169G>A (p.Asp57Asn) | not specified [RCV004642236] | uncertain significance | 15 | 66564789 | 66564789 | Human | | name |
| 407491518 | CV3452571 | single nucleotide variant | NM_207338.4(LCTL):c.146C>A (p.Ala49Asp) | not specified [RCV004642237] | uncertain significance | 15 | 66564812 | 66564812 | Human | | name |
| 597795570 | CV3698854 | single nucleotide variant | NM_207338.4(LCTL):c.188C>T (p.Pro63Leu) | not specified [RCV004934895] | uncertain significance | 15 | 66564770 | 66564770 | Human | | name |
| 597795576 | CV3698860 | single nucleotide variant | NM_207338.4(LCTL):c.101A>G (p.Tyr34Cys) | not specified [RCV004934897] | uncertain significance | 15 | 66565265 | 66565265 | Human | | name |
| 597632415 | CV3698861 | single nucleotide variant | NM_207338.4(LCTL):c.224G>A (p.Gly75Glu) | not specified [RCV004940005] | uncertain significance | 15 | 66564734 | 66564734 | Human | | name |
| 597795579 | CV3698862 | single nucleotide variant | NM_207338.4(LCTL):c.107C>A (p.Thr36Asn) | not specified [RCV004934898] | uncertain significance | 15 | 66565259 | 66565259 | Human | | name |
| 598175411 | CV3984259 | single nucleotide variant | NM_207338.4(LCTL):c.202G>A (p.Val68Ile) | not specified [RCV005371261] | uncertain significance | 15 | 66564756 | 66564756 | Human | | name |
| 598229763 | CV3984268 | single nucleotide variant | NM_207338.4(LCTL):c.217G>A (p.Gly73Arg) | not specified [RCV005362597] | uncertain significance | 15 | 66564741 | 66564741 | Human | | name |
| 598175463 | CV3984270 | single nucleotide variant | NM_207338.4(LCTL):c.160G>A (p.Gly54Ser) | not specified [RCV005371268] | uncertain significance | 15 | 66564798 | 66564798 | Human | | name |
| 155978055 | CV2214959 | single nucleotide variant | NM_207338.4(LCTL):c.649C>A (p.Pro217Thr) | not specified [RCV004084739] | uncertain significance | 15 | 66561062 | 66561062 | Human | | name |
| 156297652 | CV2240877 | single nucleotide variant | NM_207338.4(LCTL):c.811A>G (p.Ser271Gly) | not specified [RCV004102165] | uncertain significance | 15 | 66557833 | 66557833 | Human | | name |
| 156048465 | CV2241666 | single nucleotide variant | NM_207338.4(LCTL):c.890G>A (p.Gly297Asp) | not specified [RCV004104827] | uncertain significance | 15 | 66557754 | 66557754 | Human | | name |
| 156237090 | CV2285774 | single nucleotide variant | NM_207338.4(LCTL):c.353T>C (p.Leu118Pro) | not specified [RCV004141910] | uncertain significance | 15 | 66563928 | 66563928 | Human | | name |
| 155905919 | CV2303209 | single nucleotide variant | NM_207338.4(LCTL):c.794G>A (p.Gly265Glu) | not specified [RCV004156968] | uncertain significance | 15 | 66557850 | 66557850 | Human | | name |
| 156101644 | CV2313501 | single nucleotide variant | NM_207338.4(LCTL):c.673G>A (p.Gly225Ser) | not specified [RCV004163804] | uncertain significance | 15 | 66561038 | 66561038 | Human | | name |
| 156184762 | CV2349965 | single nucleotide variant | NM_207338.4(LCTL):c.874A>G (p.Asn292Asp) | not specified [RCV004206374] | uncertain significance | 15 | 66557770 | 66557770 | Human | | name |
| 155902572 | CV2356481 | single nucleotide variant | NM_207338.4(LCTL):c.740C>T (p.Thr247Met) | not specified [RCV004199398] | uncertain significance | 15 | 66558002 | 66558002 | Human | | name |
| 156247061 | CV2357028 | single nucleotide variant | NM_207338.4(LCTL):c.712G>A (p.Ala238Thr) | not specified [RCV004206833] | uncertain significance | 15 | 66558030 | 66558030 | Human | | name |
| 155910909 | CV2366723 | single nucleotide variant | NM_207338.4(LCTL):c.478C>A (p.Gln160Lys) | not specified [RCV004210723] | uncertain significance | 15 | 66563518 | 66563518 | Human | | name |
| 156211263 | CV2370331 | single nucleotide variant | NM_207338.4(LCTL):c.650C>T (p.Pro217Leu) | not specified [RCV004213239] | uncertain significance | 15 | 66561061 | 66561061 | Human | | name |
| 329393863 | CV2449910 | single nucleotide variant | NM_207338.4(LCTL):c.772A>T (p.Ile258Phe) | not specified [RCV004268990] | uncertain significance | 15 | 66557872 | 66557872 | Human | | name |
| 401783200 | CV2716176 | single nucleotide variant | NM_207338.4(LCTL):c.950A>G (p.Glu317Gly) | not specified [RCV004323409] | uncertain significance | 15 | 66553231 | 66553231 | Human | | name |
| 405817583 | CV3280062 | single nucleotide variant | NM_207338.4(LCTL):c.499G>A (p.Gly167Ser) | not specified [RCV004412569] | uncertain significance | 15 | 66561297 | 66561297 | Human | | name |
| 405817585 | CV3280064 | single nucleotide variant | NM_207338.4(LCTL):c.662T>C (p.Leu221Pro) | not specified [RCV004412571] | uncertain significance | 15 | 66561049 | 66561049 | Human | | name |
| 405817586 | CV3280065 | single nucleotide variant | NM_207338.4(LCTL):c.665G>A (p.Arg222His) | not specified [RCV004412572] | likely benign | 15 | 66561046 | 66561046 | Human | | name |
| 405817587 | CV3280066 | single nucleotide variant | NM_207338.4(LCTL):c.796G>A (p.Glu266Lys) | not specified [RCV004412573] | uncertain significance | 15 | 66557848 | 66557848 | Human | | name |
| 405817588 | CV3280067 | single nucleotide variant | NM_207338.4(LCTL):c.838G>A (p.Glu280Lys) | not specified [RCV004412574] | uncertain significance | 15 | 66557806 | 66557806 | Human | | name |
| 405817589 | CV3280068 | single nucleotide variant | NM_207338.4(LCTL):c.878C>T (p.Pro293Leu) | not specified [RCV004412575] | uncertain significance | 15 | 66557766 | 66557766 | Human | | name |
| 407491504 | CV3452568 | single nucleotide variant | NM_207338.4(LCTL):c.667G>C (p.Gly223Arg) | not specified [RCV004642234] | uncertain significance | 15 | 66561044 | 66561044 | Human | | name |
| 407491508 | CV3452569 | single nucleotide variant | NM_207338.4(LCTL):c.373G>A (p.Glu125Lys) | not specified [RCV004642235] | uncertain significance | 15 | 66563623 | 66563623 | Human | | name |
| 407491522 | CV3452572 | single nucleotide variant | NM_207338.4(LCTL):c.647C>T (p.Ala216Val) | not specified [RCV004642238] | uncertain significance | 15 | 66561064 | 66561064 | Human | | name |
| 407491527 | CV3452573 | single nucleotide variant | NM_207338.4(LCTL):c.328T>C (p.Phe110Leu) | not specified [RCV004642239] | uncertain significance | 15 | 66563953 | 66563953 | Human | | name |
| 597795573 | CV3698855 | single nucleotide variant | NM_207338.4(LCTL):c.869T>C (p.Phe290Ser) | not specified [RCV004934896] | uncertain significance | 15 | 66557775 | 66557775 | Human | | name |
| 597632403 | CV3698856 | single nucleotide variant | NM_207338.4(LCTL):c.356C>A (p.Pro119His) | not specified [RCV004940001] | uncertain significance | 15 | 66563925 | 66563925 | Human | | name |
| 597632406 | CV3698857 | single nucleotide variant | NM_207338.4(LCTL):c.397G>A (p.Glu133Lys) | not specified [RCV004940002] | likely benign | 15 | 66563599 | 66563599 | Human | | name |
| 597632410 | CV3698858 | single nucleotide variant | NM_207338.4(LCTL):c.802G>A (p.Val268Met) | not specified [RCV004940003] | uncertain significance | 15 | 66557842 | 66557842 | Human | | name |
| 597632412 | CV3698859 | single nucleotide variant | NM_207338.4(LCTL):c.952A>G (p.Met318Val) | not specified [RCV004940004] | uncertain significance | 15 | 66553229 | 66553229 | Human | | name |
| 598198487 | CV3984258 | single nucleotide variant | NM_207338.4(LCTL):c.575G>A (p.Arg192His) | not specified [RCV005355496] | uncertain significance | 15 | 66561221 | 66561221 | Human | | name |
| 598175442 | CV3984263 | single nucleotide variant | NM_207338.4(LCTL):c.787G>A (p.Asp263Asn) | not specified [RCV005371265] | uncertain significance | 15 | 66557857 | 66557857 | Human | | name |
| 598175449 | CV3984266 | single nucleotide variant | NM_207338.4(LCTL):c.857G>A (p.Cys286Tyr) | not specified [RCV005371266] | uncertain significance | 15 | 66557787 | 66557787 | Human | | name |
| 156127009 | CV2234545 | single nucleotide variant | NM_207338.4(LCTL):c.1036A>G (p.Thr346Ala) | not specified [RCV004100738] | uncertain significance | 15 | 66553145 | 66553145 | Human | | name |
| 156296862 | CV2236677 | single nucleotide variant | NM_207338.4(LCTL):c.1505G>C (p.Gly502Ala) | not specified [RCV004110637] | uncertain significance | 15 | 66551681 | 66551681 | Human | | name |
| 156078457 | CV2248317 | single nucleotide variant | NM_207338.4(LCTL):c.1070G>A (p.Arg357His) | not specified [RCV004119476] | uncertain significance | 15 | 66553111 | 66553111 | Human | | name |
| 155957174 | CV2282027 | single nucleotide variant | NM_207338.4(LCTL):c.1608G>A (p.Met536Ile) | not specified [RCV004138781] | uncertain significance | 15 | 66548586 | 66548586 | Human | | name |
| 156194690 | CV2297140 | single nucleotide variant | NM_207338.4(LCTL):c.1376A>G (p.Asp459Gly) | not specified [RCV004151038] | uncertain significance | 15 | 66551810 | 66551810 | Human | | name |
| 156343553 | CV2364128 | single nucleotide variant | NM_207338.4(LCTL):c.1049C>T (p.Thr350Met) | not specified [RCV004221504] | likely benign | 15 | 66553132 | 66553132 | Human | | name |
| 329366031 | CV2438020 | single nucleotide variant | NM_207338.4(LCTL):c.1510C>G (p.Pro504Ala) | not specified [RCV004263726] | uncertain significance | 15 | 66551676 | 66551676 | Human | | name |
| 329400503 | CV2438410 | single nucleotide variant | NM_207338.4(LCTL):c.1426G>A (p.Val476Ile) | not specified [RCV004259567] | uncertain significance | 15 | 66551760 | 66551760 | Human | | name |
| 329398772 | CV2442781 | single nucleotide variant | NM_207338.4(LCTL):c.1618A>G (p.Thr540Ala) | not specified [RCV004251612] | uncertain significance | 15 | 66548576 | 66548576 | Human | | name |
| 401727033 | CV2684441 | single nucleotide variant | NM_207338.4(LCTL):c.1316T>C (p.Met439Thr) | not specified [RCV004291515] | uncertain significance | 15 | 66552051 | 66552051 | Human | | name |
| 401888574 | CV2757732 | single nucleotide variant | NM_207338.4(LCTL):c.1241C>A (p.Ala414Glu) | not specified [RCV004336883] | uncertain significance | 15 | 66552126 | 66552126 | Human | | name |
| 401875690 | CV2766966 | single nucleotide variant | NM_207338.4(LCTL):c.1121C>A (p.Pro374Gln) | not specified [RCV004343350] | uncertain significance | 15 | 66553060 | 66553060 | Human | | name |
| 405817575 | CV3280054 | single nucleotide variant | NM_207338.4(LCTL):c.1009G>A (p.Asp337Asn) | not specified [RCV004412561] | uncertain significance | 15 | 66553172 | 66553172 | Human | | name |
| 405817576 | CV3280055 | single nucleotide variant | NM_207338.4(LCTL):c.1096C>A (p.Arg366Ser) | not specified [RCV004412562] | uncertain significance | 15 | 66553085 | 66553085 | Human | | name |
| 405817577 | CV3280056 | single nucleotide variant | NM_207338.4(LCTL):c.1096C>T (p.Arg366Cys) | not specified [RCV004412563] | uncertain significance | 15 | 66553085 | 66553085 | Human | | name |
| 405817578 | CV3280057 | single nucleotide variant | NM_207338.4(LCTL):c.1229T>C (p.Met410Thr) | not specified [RCV004412564] | likely benign | 15 | 66552138 | 66552138 | Human | | name |
| 405817579 | CV3280058 | single nucleotide variant | NM_207338.4(LCTL):c.1384G>C (p.Glu462Gln) | not specified [RCV004412565] | uncertain significance | 15 | 66551802 | 66551802 | Human | | name |
| 405817580 | CV3280059 | single nucleotide variant | NM_207338.4(LCTL):c.1453C>T (p.Arg485Cys) | not specified [RCV004412566] | uncertain significance | 15 | 66551733 | 66551733 | Human | | name |
| 405817581 | CV3280060 | single nucleotide variant | NM_207338.4(LCTL):c.1459C>T (p.Pro487Ser) | not specified [RCV004412567] | uncertain significance | 15 | 66551727 | 66551727 | Human | | name |
| 405817582 | CV3280061 | single nucleotide variant | NM_207338.4(LCTL):c.1619C>T (p.Thr540Met) | not specified [RCV004412568] | uncertain significance | 15 | 66548575 | 66548575 | Human | | name |
| 597632419 | CV3698863 | single nucleotide variant | NM_207338.4(LCTL):c.1327A>C (p.Ile443Leu) | not specified [RCV004940006] | uncertain significance | 15 | 66551859 | 66551859 | Human | | name |
| 597632422 | CV3698864 | single nucleotide variant | NM_207338.4(LCTL):c.1003A>G (p.Thr335Ala) | not specified [RCV004940007] | uncertain significance | 15 | 66553178 | 66553178 | Human | | name |
| 597632426 | CV3698865 | single nucleotide variant | NM_207338.4(LCTL):c.1142C>G (p.Ser381Cys) | not specified [RCV004940008] | uncertain significance | 15 | 66553039 | 66553039 | Human | | name |
| 598175418 | CV3984260 | single nucleotide variant | NM_207338.4(LCTL):c.1441A>G (p.Arg481Gly) | not specified [RCV005371262] | uncertain significance | 15 | 66551745 | 66551745 | Human | | name |
| 598175427 | CV3984261 | single nucleotide variant | NM_207338.4(LCTL):c.1040G>A (p.Arg347Gln) | not specified [RCV005371263] | uncertain significance | 15 | 66553141 | 66553141 | Human | | name |
| 598175434 | CV3984262 | single nucleotide variant | NM_207338.4(LCTL):c.1339G>A (p.Ala447Thr) | not specified [RCV005371264] | uncertain significance | 15 | 66551847 | 66551847 | Human | | name |
| 598198497 | CV3984264 | single nucleotide variant | NM_207338.4(LCTL):c.1183C>T (p.Leu395Phe) | not specified [RCV005355497] | uncertain significance | 15 | 66552998 | 66552998 | Human | | name |
| 598198504 | CV3984265 | single nucleotide variant | NM_207338.4(LCTL):c.1237G>A (p.Gly413Arg) | not specified [RCV005355498] | uncertain significance | 15 | 66552130 | 66552130 | Human | | name |
| 598175455 | CV3984269 | single nucleotide variant | NM_207338.4(LCTL):c.1514A>G (p.Asn505Ser) | not specified [RCV005371267] | uncertain significance | 15 | 66551672 | 66551672 | Human | | name |