| 155800621 | CV1863744 | single nucleotide variant | NM_006852.6(TLK2):c.-6+1G>T | not provided [RCV002474167] | uncertain significance | 17 | 62479291 | 62479291 | Human | | name |
| 405653787 | CV3227961 | deletion | NM_006852.6(TLK2):c.81+2del | Intellectual disability, autosomal dominant 57 [RCV003994703] | uncertain significance | 17 | 62481208 | 62481208 | Human | 1 | name |
| 150544823 | CV1305510 | single nucleotide variant | NM_006852.6(TLK2):c.968+6T>C | not provided [RCV001774499] | uncertain significance | 17 | 62565143 | 62565143 | Human | | name |
| 243052943 | CV2418313 | single nucleotide variant | NM_006852.6(TLK2):c.968+1G>T | not provided [RCV003154111] | pathogenic | 17 | 62565138 | 62565138 | Human | | name |
| 401914561 | CV2808137 | single nucleotide variant | NM_006852.6(TLK2):c.224-8A>G | not provided [RCV003428371] | likely benign | 17 | 62523126 | 62523126 | Human | | name |
| 405073500 | CV2853573 | single nucleotide variant | NM_006852.6(TLK2):c.267+1G>A | Intellectual disability, autosomal dominant 57 [RCV003594713] | pathogenic | 17 | 62523178 | 62523178 | Human | 1 | name |
| 405854529 | CV3393111 | single nucleotide variant | NM_006852.6(TLK2):c.153+8G>A | not specified [RCV004527268] | uncertain significance | 17 | 62520852 | 62520852 | Human | | name |
| 596925274 | CV3541966 | single nucleotide variant | NM_006852.6(TLK2):c.154-1G>A | Intellectual disability, autosomal dominant 57 [RCV004795680] | pathogenic | 17 | 62522203 | 62522203 | Human | 1 | name |
| 21075076 | CV798720 | single nucleotide variant | NM_006852.6(TLK2):c.968+1G>C | Intellectual disability, autosomal dominant 57 [RCV000995901]|Neurodevelopmental disorder [RCV002279690] | pathogenic | 17 | 62565138 | 62565138 | Human | 2 | name |
| 25319135 | CV816534 | single nucleotide variant | NM_006852.6(TLK2):c.968+1G>A | Intellectual disability, autosomal dominant 57 [RCV001028106]|TLK2-related neurodevelopmental disorder [RCV001095744] | pathogenic|likely pathogenic | 17 | 62565138 | 62565138 | Human | 1 | name , trait |
| 28886628 | CV860422 | single nucleotide variant | NM_006852.6(TLK2):c.154-5G>A | not provided [RCV001091880] | uncertain significance | 17 | 62522199 | 62522199 | Human | | name |
| 40889709 | CV975494 | single nucleotide variant | NM_006852.6(TLK2):c.968+2T>G | not provided [RCV001268143] | pathogenic | 17 | 62565139 | 62565139 | Human | | name |
| 127230291 | CV1087093 | single nucleotide variant | NM_006852.6(TLK2):c.1369-2A>G | See cases [RCV001420224] | pathogenic | 17 | 62586133 | 62586133 | Human | | name |
| 150424804 | CV1185295 | single nucleotide variant | NM_006852.6(TLK2):c.1550+1G>A | Intellectual disability, autosomal dominant 57 [RCV001775176]|not provided [RCV001557150] | pathogenic|likely pathogenic | 17 | 62596675 | 62596675 | Human | 1 | name |
| 150547314 | CV1291973 | microsatellite | NM_006852.6(TLK2):c.-25GGC[5] | not specified [RCV001733639] | likely benign | 17 | 62479269 | 62479271 | Human | | name |
| 150533597 | CV1300877 | single nucleotide variant | NM_006852.6(TLK2):c.2080-3C>T | not provided [RCV001754737] | uncertain significance | 17 | 62612389 | 62612389 | Human | | name |
| 153301074 | CV1688918 | single nucleotide variant | NM_006852.6(TLK2):c.1369-8C>T | Intellectual disability, autosomal dominant 57 [RCV002266646] | uncertain significance | 17 | 62586127 | 62586127 | Human | 1 | name |
| 153348370 | CV1691608 | single nucleotide variant | NM_006852.6(TLK2):c.1121+1G>A | Intellectual disability, autosomal dominant 57 [RCV002273091]|not provided [RCV004719249] | pathogenic|likely pathogenic | 17 | 62573368 | 62573368 | Human | 1 | name |
| 155644650 | CV1710329 | duplication | NM_006852.6(TLK2):c.1720+2dup | not provided [RCV002293625] | uncertain significance | 17 | 62600821 | 62600822 | Human | | name |
| 156124851 | CV2223506 | single nucleotide variant | NM_006852.6(TLK2):c.1189-2A>G | Inborn genetic diseases [RCV002708081] | pathogenic | 17 | 62578475 | 62578475 | Human | 1 | name |
| 156435157 | CV2403413 | single nucleotide variant | NM_006852.6(TLK2):c.1286+5G>A | Developmental disorder [RCV003127349] | likely pathogenic | 17 | 62578579 | 62578579 | Human | 1 | name |
| 401914556 | CV2808134 | single nucleotide variant | NM_006852.6(TLK2):c.-6+235G>C | not provided [RCV003428369] | likely benign | 17 | 62479525 | 62479525 | Human | | name |
| 405267209 | CV3205409 | single nucleotide variant | NM_006852.6(TLK2):c.2080-9C>T | TLK2-related disorder [RCV004545563] | likely benign | 17 | 62612383 | 62612383 | Human | | name , trait , alternate_id |
| 407572687 | CV3497169 | single nucleotide variant | NM_006852.6(TLK2):c.1287-6C>T | not provided [RCV004698989] | uncertain significance | 17 | 62580105 | 62580105 | Human | | name |
| 597628243 | CV3610298 | single nucleotide variant | NM_006852.6(TLK2):c.1971+2T>C | Inborn genetic diseases [RCV004966776] | uncertain significance | 17 | 62606243 | 62606243 | Human | 1 | name |
| 597674212 | CV3703369 | single nucleotide variant | NM_006852.6(TLK2):c.1286+1G>A | Intellectual disability, autosomal dominant 57 [RCV004995671] | pathogenic | 17 | 62578575 | 62578575 | Human | 1 | name |
| 598122552 | CV3884483 | single nucleotide variant | NM_006852.6(TLK2):c.969-19A>G | not specified [RCV005237175] | uncertain significance | 17 | 62573196 | 62573196 | Human | | name |
| 598125942 | CV3885989 | duplication | NM_006852.6(TLK2):c.1121+2dup | not provided [RCV005241792] | likely pathogenic | 17 | 62573368 | 62573369 | Human | | name |
| 13706588 | CV539420 | single nucleotide variant | NM_006852.6(TLK2):c.1720+1G>T | Intellectual disability, autosomal dominant 57 [RCV000663346] | pathogenic | 17 | 62600821 | 62600821 | Human | 1 | name |
| 13706589 | CV539423 | single nucleotide variant | NM_006852.6(TLK2):c.1460+2T>G | Intellectual disability, autosomal dominant 57 [RCV000663349] | pathogenic | 17 | 62586228 | 62586228 | Human | 1 | name |
| 401739177 | CV2738499 | single nucleotide variant | NM_006852.6(TLK2):c.1859+16C>T | not specified [RCV003317891] | uncertain significance | 17 | 62602196 | 62602196 | Human | | name |
| 8585485 | CV120072 | single nucleotide variant | NM_001284333.1(TLK2):c.*1966G>T | Lung cancer [RCV000100592] | uncertain significance | 17 | 62614531 | 62614531 | Human | | name |
| 401797918 | CV2741210 | deletion | NM_006852.6(TLK2):c.628-2_628del | not provided [RCV003322373] | likely pathogenic | 17 | 62553659 | 62553661 | Human | | name |
| 401935836 | CV2808138 | single nucleotide variant | NM_006852.6(TLK2):c.1460+3246T>C | not provided [RCV003413298] | likely benign | 17 | 62589472 | 62589472 | Human | | name |
| 401914558 | CV2808135 | single nucleotide variant | NM_006852.6(TLK2):c.27C>T (p.Asp9=) | not provided [RCV003428370] | likely benign | 17 | 62481152 | 62481152 | Human | | name |
| 153304842 | CV1687288 | duplication | NM_006852.6(TLK2):c.-6+223_-6+229dup | Intellectual disability, autosomal dominant 57 [RCV002290856]|not provided [RCV002263106] | benign|likely benign|uncertain significance | 17 | 62479511 | 62479512 | Human | 1 | name |
| 150452824 | CV1275338 | deletion | NM_006852.6(TLK2):c.36del (p.Gln13fs) | Intellectual disability, autosomal dominant 57 [RCV001706852] | pathogenic | 17 | 62481160 | 62481160 | Human | 1 | name |
| 401732147 | CV2708689 | single nucleotide variant | NM_006852.6(TLK2):c.20G>T (p.Ser7Ile) | Inborn genetic diseases [RCV003271950] | uncertain significance | 17 | 62481145 | 62481145 | Human | 1 | name |
| 150335289 | CV1166257 | single nucleotide variant | NM_006852.6(TLK2):c.56G>C (p.Arg19Thr) | not provided [RCV001531438] | uncertain significance | 17 | 62481181 | 62481181 | Human | | name |
| 150557102 | CV1310437 | single nucleotide variant | NM_006852.6(TLK2):c.31C>T (p.Arg11Ter) | Intellectual disability, autosomal dominant 57 [RCV001775365] | likely pathogenic | 17 | 62481156 | 62481156 | Human | 1 | name |
| 401935835 | CV2808136 | single nucleotide variant | NM_006852.6(TLK2):c.94A>G (p.Ser32Gly) | not provided [RCV003413297] | uncertain significance | 17 | 62520785 | 62520785 | Human | | name |
| 405260488 | CV3185776 | single nucleotide variant | NM_006852.6(TLK2):c.912C>T (p.His304=) | not provided [RCV003884852] | likely benign | 17 | 62565081 | 62565081 | Human | | name |
| 405260773 | CV3185907 | single nucleotide variant | NM_006852.6(TLK2):c.510C>T (p.Gly170=) | not provided [RCV003884983] | likely benign | 17 | 62536316 | 62536316 | Human | | name |
| 405770296 | CV3346207 | single nucleotide variant | NM_006852.6(TLK2):c.67G>A (p.Val23Ile) | Inborn genetic diseases [RCV004470169] | likely benign | 17 | 62481192 | 62481192 | Human | 1 | name |
| 408390422 | CV3527544 | insertion | NM_006852.6(TLK2):c.1121+2_1121+3insCT | not provided [RCV004774811] | uncertain significance | 17 | 62573368 | 62573369 | Human | | name |
| 598129257 | CV3888551 | single nucleotide variant | NM_006852.6(TLK2):c.879C>T (p.Arg293=) | not provided [RCV005244725] | likely benign | 17 | 62565048 | 62565048 | Human | | name |
| 14393240 | CV609317 | single nucleotide variant | NM_006852.6(TLK2):c.37C>T (p.Gln13Ter) | Intellectual disability, autosomal dominant 57 [RCV000755749] | pathogenic | 17 | 62481162 | 62481162 | Human | 1 | name |
| 41407623 | CV980382 | single nucleotide variant | NM_006852.6(TLK2):c.34C>T (p.Arg12Trp) | Intellectual disability, autosomal dominant 57 [RCV001280851] | uncertain significance | 17 | 62481159 | 62481159 | Human | 1 | name |
| 150478483 | CV1207672 | deletion | NM_006852.6(TLK2):c.665del (p.Asn222fs) | not provided [RCV001589948] | pathogenic | 17 | 62553697 | 62553697 | Human | | name |
| 150520806 | CV1289915 | single nucleotide variant | NM_006852.6(TLK2):c.1461G>A (p.Lys487=) | Inborn genetic diseases [RCV003365441]|not provided [RCV001730291] | likely benign | 17 | 62596585 | 62596585 | Human | 1 | name |
| 150551984 | CV1300799 | single nucleotide variant | NM_006852.6(TLK2):c.187C>T (p.Arg63Trp) | not provided [RCV001754659] | uncertain significance | 17 | 62522237 | 62522237 | Human | | name |
| 150542062 | CV1302475 | single nucleotide variant | NM_006852.6(TLK2):c.174T>G (p.Asn58Lys) | not provided [RCV001761165] | uncertain significance | 17 | 62522224 | 62522224 | Human | | name |
| 151663142 | CV1333795 | single nucleotide variant | NM_006852.6(TLK2):c.1872A>G (p.Pro624=) | Intellectual disability, autosomal dominant 57 [RCV001838886]|not provided [RCV004710388] | benign | 17 | 62606142 | 62606142 | Human | 1 | name |
| 155641551 | CV1707032 | single nucleotide variant | NM_006852.6(TLK2):c.293C>A (p.Thr98Asn) | not provided [RCV002287962] | uncertain significance | 17 | 62524261 | 62524261 | Human | | name |
| 329846624 | CV2534119 | single nucleotide variant | NM_006852.6(TLK2):c.1284A>G (p.Ser428=) | not provided [RCV003228326] | uncertain significance | 17 | 62578572 | 62578572 | Human | | name |
| 329953744 | CV2668555 | single nucleotide variant | NM_006852.6(TLK2):c.164A>G (p.Lys55Arg) | not provided [RCV003230208] | uncertain significance | 17 | 62522214 | 62522214 | Human | | name |
| 329955347 | CV2671291 | single nucleotide variant | NM_006852.6(TLK2):c.2139G>A (p.Leu713=) | not specified [RCV003236567] | likely benign | 17 | 62612451 | 62612451 | Human | | name |
| 401741573 | CV2738840 | single nucleotide variant | NM_006852.6(TLK2):c.226A>C (p.Lys76Gln) | not provided [RCV003318234] | uncertain significance | 17 | 62523136 | 62523136 | Human | | name |
| 401935837 | CV2808139 | single nucleotide variant | NM_006852.6(TLK2):c.2112G>A (p.Lys704=) | not provided [RCV003413299] | likely benign | 17 | 62612424 | 62612424 | Human | | name |
| 401914563 | CV2808140 | single nucleotide variant | NM_006852.6(TLK2):c.2238C>T (p.Asn746=) | not provided [RCV003428372] | likely benign | 17 | 62612550 | 62612550 | Human | | name |
| 401906476 | CV2808141 | single nucleotide variant | NM_006852.6(TLK2):c.2241T>C (p.Ser747=) | not provided [RCV003421398] | likely benign | 17 | 62612553 | 62612553 | Human | | name |
| 405770280 | CV3346205 | single nucleotide variant | NM_006852.6(TLK2):c.124G>A (p.Val42Ile) | Inborn genetic diseases [RCV004470167] | uncertain significance | 17 | 62520815 | 62520815 | Human | 1 | name |
| 407456130 | CV3415806 | single nucleotide variant | NM_006852.6(TLK2):c.2082G>A (p.Ala694=) | not provided [RCV004598683] | likely benign | 17 | 62612394 | 62612394 | Human | | name |
| 407456228 | CV3415834 | single nucleotide variant | NM_006852.6(TLK2):c.1641C>A (p.Ser547=) | not provided [RCV004598711] | likely benign | 17 | 62600741 | 62600741 | Human | | name |
| 407520840 | CV3475829 | single nucleotide variant | NM_006852.6(TLK2):c.292A>G (p.Thr98Ala) | Inborn genetic diseases [RCV004677087]|not provided [RCV004780746] | uncertain significance | 17 | 62524260 | 62524260 | Human | 1 | name |
| 596946952 | CV3547010 | single nucleotide variant | NM_006852.6(TLK2):c.2187A>G (p.Thr729=) | not provided [RCV004810816] | likely benign | 17 | 62612499 | 62612499 | Human | | name |
| 598123444 | CV3884852 | single nucleotide variant | NM_006852.6(TLK2):c.209A>G (p.Tyr70Cys) | not specified [RCV005238461] | uncertain significance | 17 | 62522259 | 62522259 | Human | | name |
| 598198916 | CV3924483 | single nucleotide variant | NM_006852.6(TLK2):c.177C>A (p.Asp59Glu) | Inborn genetic diseases [RCV005289780] | likely benign | 17 | 62522227 | 62522227 | Human | 1 | name |
| 13611527 | CV514731 | deletion | NM_006852.6(TLK2):c.947del (p.Tyr316fs) | not provided [RCV000627537] | pathogenic|uncertain significance | 17 | 62565116 | 62565116 | Human | | name |
| 14393233 | CV609318 | single nucleotide variant | NM_006852.6(TLK2):c.181C>T (p.Arg61Ter) | Intellectual disability, autosomal dominant 57 [RCV000755739]|not provided [RCV004721582] | pathogenic | 17 | 62522231 | 62522231 | Human | 1 | name |
| 14393228 | CV609319 | single nucleotide variant | NM_006852.6(TLK2):c.202G>T (p.Glu68Ter) | Intellectual disability, autosomal dominant 57 [RCV000755733] | pathogenic | 17 | 62522252 | 62522252 | Human | 1 | name |
| 38598285 | CV965290 | single nucleotide variant | NM_006852.6(TLK2):c.163A>G (p.Lys55Glu) | Intellectual disability [RCV001254715] | uncertain significance | 17 | 62522213 | 62522213 | Human | 2 | name |
| 40887019 | CV974079 | deletion | NM_006852.6(TLK2):c.713del (p.Leu238fs) | Inborn genetic diseases [RCV001266399] | pathogenic | 17 | 62553746 | 62553746 | Human | 1 | name |
| 127230355 | CV1087092 | single nucleotide variant | NM_006852.6(TLK2):c.754C>T (p.Gln252Ter) | See cases [RCV001420259]|TLK2-related disorder [RCV004531281] | likely pathogenic | 17 | 62560049 | 62560049 | Human | | name , trait , alternate_id |
| 150528945 | CV1288577 | single nucleotide variant | NM_006852.6(TLK2):c.419C>T (p.Thr140Met) | not provided [RCV001727045] | likely benign | 17 | 62536225 | 62536225 | Human | | name |
| 151751129 | CV1335629 | single nucleotide variant | NM_006852.6(TLK2):c.523T>G (p.Phe175Val) | not provided [RCV001847471] | uncertain significance | 17 | 62536329 | 62536329 | Human | | name |
| 151792954 | CV1482547 | single nucleotide variant | NM_006852.6(TLK2):c.335C>T (p.Pro112Leu) | not provided [RCV002047278] | uncertain significance | 17 | 62524303 | 62524303 | Human | | name |
| 152088470 | CV1519480 | single nucleotide variant | NM_006852.6(TLK2):c.585C>A (p.Cys195Ter) | Intellectual disability, autosomal dominant 57 [RCV002077381] | likely pathogenic | 17 | 62552355 | 62552355 | Human | 1 | name |
| 152081014 | CV1667067 | duplication | NM_006852.6(TLK2):c.1052dup (p.Gln352fs) | not provided [RCV002211413] | pathogenic | 17 | 62573295 | 62573296 | Human | | name |
| 153303107 | CV1685720 | single nucleotide variant | NM_006852.6(TLK2):c.870G>A (p.Met290Ile) | Intellectual disability, autosomal dominant 57 [RCV002260553] | uncertain significance | 17 | 62565039 | 62565039 | Human | 1 | name |
| 155803830 | CV1858396 | single nucleotide variant | NM_006852.6(TLK2):c.578A>T (p.His193Leu) | TLK2-related disorder [RCV004529143]|not provided [RCV002462706] | uncertain significance | 17 | 62552348 | 62552348 | Human | 1 | name , trait , alternate_id |
| 156185963 | CV2294990 | single nucleotide variant | NM_006852.6(TLK2):c.320T>C (p.Val107Ala) | Inborn genetic diseases [RCV002892248] | uncertain significance | 17 | 62524288 | 62524288 | Human | 1 | name |
| 243062538 | CV2405010 | single nucleotide variant | NM_006852.6(TLK2):c.416C>T (p.Ala139Val) | Intellectual disability, autosomal dominant 57 [RCV003225811] | uncertain significance | 17 | 62536222 | 62536222 | Human | 1 | name |
| 243062985 | CV2414103 | single nucleotide variant | NM_006852.6(TLK2):c.362C>T (p.Pro121Leu) | Intellectual disability, autosomal dominant 57 [RCV003141022] | uncertain significance | 17 | 62524330 | 62524330 | Human | 1 | name |
| 243049860 | CV2417229 | single nucleotide variant | NM_006852.6(TLK2):c.455T>A (p.Val152Glu) | not provided [RCV003152101] | uncertain significance | 17 | 62536261 | 62536261 | Human | | name |
| 329952931 | CV2669640 | single nucleotide variant | NM_006852.6(TLK2):c.353A>G (p.Asn118Ser) | not provided [RCV003234263] | uncertain significance | 17 | 62524321 | 62524321 | Human | | name |
| 401725766 | CV2735952 | single nucleotide variant | NM_006852.6(TLK2):c.601A>T (p.Ile201Phe) | not provided [RCV003312396] | uncertain significance | 17 | 62552371 | 62552371 | Human | | name |
| 401725770 | CV2735953 | duplication | NM_006852.6(TLK2):c.1726dup (p.Ile576fs) | not provided [RCV003312397] | pathogenic | 17 | 62602046 | 62602047 | Human | | name |
| 401732033 | CV2736657 | deletion | NM_006852.6(TLK2):c.2176del (p.Ser726fs) | not provided [RCV003313419] | uncertain significance | 17 | 62612488 | 62612488 | Human | | name |
| 401733216 | CV2736820 | single nucleotide variant | NM_006852.6(TLK2):c.448A>T (p.Met150Leu) | not provided [RCV003313582] | uncertain significance | 17 | 62536254 | 62536254 | Human | | name |
| 401828522 | CV2743464 | single nucleotide variant | NM_006852.6(TLK2):c.732T>G (p.Asp244Glu) | Intellectual disability, autosomal dominant 57 [RCV003326305] | uncertain significance | 17 | 62560027 | 62560027 | Human | 1 | name |
| 401892409 | CV2785407 | single nucleotide variant | NM_006852.6(TLK2):c.964A>C (p.Ile322Leu) | Inborn genetic diseases [RCV003369986] | uncertain significance | 17 | 62565133 | 62565133 | Human | 1 | name |
| 401912102 | CV2795977 | single nucleotide variant | NM_006852.6(TLK2):c.392T>A (p.Leu131Ter) | TLK2-related disorder [RCV004538974] | likely pathogenic | 17 | 62536198 | 62536198 | Human | | name , trait , alternate_id |
| 405056637 | CV3081176 | single nucleotide variant | NM_006852.6(TLK2):c.944G>T (p.Gly315Val) | Intellectual disability, autosomal dominant 57 [RCV003761183] | likely pathogenic | 17 | 62565113 | 62565113 | Human | 1 | name |
| 405770287 | CV3346206 | single nucleotide variant | NM_006852.6(TLK2):c.551C>T (p.Ser184Leu) | Inborn genetic diseases [RCV004470168] | uncertain significance | 17 | 62552321 | 62552321 | Human | 1 | name |
| 407426775 | CV3411575 | single nucleotide variant | NM_006852.6(TLK2):c.950C>T (p.Ala317Val) | not provided [RCV004590753] | uncertain significance | 17 | 62565119 | 62565119 | Human | | name |
| 407520847 | CV3475832 | single nucleotide variant | NM_006852.6(TLK2):c.959A>C (p.Asn320Thr) | Inborn genetic diseases [RCV004677090] | uncertain significance | 17 | 62565128 | 62565128 | Human | 1 | name |
| 407572697 | CV3497181 | single nucleotide variant | NM_006852.6(TLK2):c.908G>A (p.Arg303Gln) | not provided [RCV004699001] | uncertain significance | 17 | 62565077 | 62565077 | Human | | name |
| 408366461 | CV3500229 | single nucleotide variant | NM_006852.6(TLK2):c.326G>A (p.Arg109Gln) | not provided [RCV004722272] | likely pathogenic | 17 | 62524294 | 62524294 | Human | | name |
| 408369886 | CV3502879 | single nucleotide variant | NM_006852.6(TLK2):c.881T>C (p.Leu294Ser) | not provided [RCV004724000] | uncertain significance | 17 | 62565050 | 62565050 | Human | | name |
| 408385706 | CV3520310 | single nucleotide variant | NM_006852.6(TLK2):c.371T>C (p.Val124Ala) | not provided [RCV004760131] | uncertain significance | 17 | 62536177 | 62536177 | Human | | name |
| 408385917 | CV3528742 | single nucleotide variant | NM_006852.6(TLK2):c.713T>C (p.Leu238Ser) | not provided [RCV004772575] | uncertain significance | 17 | 62553748 | 62553748 | Human | | name |
| 408386456 | CV3528935 | single nucleotide variant | NM_006852.6(TLK2):c.368G>A (p.Arg123Gln) | not provided [RCV004772768] | uncertain significance | 17 | 62536174 | 62536174 | Human | | name |
| 596927172 | CV3532512 | single nucleotide variant | NM_006852.6(TLK2):c.916G>A (p.Ala306Thr) | not provided [RCV004778610] | uncertain significance | 17 | 62565085 | 62565085 | Human | | name |
| 596921692 | CV3535318 | deletion | NM_006852.6(TLK2):c.1415del (p.Gln472fs) | Intellectual disability, autosomal dominant 57 [RCV004784873] | pathogenic | 17 | 62586181 | 62586181 | Human | 1 | name |
| 596929106 | CV3540807 | single nucleotide variant | NM_006852.6(TLK2):c.668G>A (p.Ser223Asn) | not provided [RCV004795136] | uncertain significance | 17 | 62553703 | 62553703 | Human | | name |
| 596925591 | CV3541957 | single nucleotide variant | NM_006852.6(TLK2):c.625C>T (p.Gln209Ter) | Intellectual disability, autosomal dominant 57 [RCV004795671] | likely pathogenic | 17 | 62552395 | 62552395 | Human | 1 | name |
| 597628231 | CV3610295 | single nucleotide variant | NM_006852.6(TLK2):c.557C>T (p.Thr186Met) | Inborn genetic diseases [RCV004966773] | uncertain significance | 17 | 62552327 | 62552327 | Human | 1 | name |
| 597628234 | CV3610296 | single nucleotide variant | NM_006852.6(TLK2):c.378G>T (p.Gln126His) | Inborn genetic diseases [RCV004966774] | likely benign | 17 | 62536184 | 62536184 | Human | 1 | name |
| 597628239 | CV3610297 | duplication | NM_006852.6(TLK2):c.1397dup (p.Ala467fs) | Inborn genetic diseases [RCV004966775] | pathogenic | 17 | 62586162 | 62586163 | Human | 1 | name |
| 597660209 | CV3731802 | deletion | NM_006852.6(TLK2):c.1865del (p.Leu622fs) | Intellectual disability, autosomal dominant 57 [RCV005001977] | pathogenic | 17 | 62606133 | 62606133 | Human | 1 | name |
| 12837181 | CV376356 | single nucleotide variant | NM_006852.6(TLK2):c.832T>C (p.Ser278Pro) | not provided [RCV000424722] | likely pathogenic|uncertain significance | 17 | 62565001 | 62565001 | Human | | name |
| 598126783 | CV3882239 | deletion | NM_006852.6(TLK2):c.78_81del (p.Ser26fs) | not provided [RCV005233790] | pathogenic | 17 | 62481201 | 62481204 | Human | | name |
| 598216366 | CV3891425 | single nucleotide variant | NM_006852.6(TLK2):c.376C>T (p.Gln126Ter) | Intellectual disability, autosomal dominant 57 [RCV005252267] | likely pathogenic | 17 | 62536182 | 62536182 | Human | 1 | name |
| 598223270 | CV3892178 | single nucleotide variant | NM_006852.6(TLK2):c.890G>T (p.Gly297Val) | Intellectual disability, autosomal dominant 57 [RCV005253517] | uncertain significance | 17 | 62565059 | 62565059 | Human | 1 | name |
| 598237750 | CV3893391 | single nucleotide variant | NM_006852.6(TLK2):c.307A>C (p.Ser103Arg) | not provided [RCV005256124] | uncertain significance | 17 | 62524275 | 62524275 | Human | | name |
| 598176992 | CV3924478 | single nucleotide variant | NM_006852.6(TLK2):c.771G>T (p.Glu257Asp) | Inborn genetic diseases [RCV005285746] | likely benign | 17 | 62560066 | 62560066 | Human | 1 | name |
| 598198907 | CV3924481 | single nucleotide variant | NM_006852.6(TLK2):c.442A>C (p.Thr148Pro) | Inborn genetic diseases [RCV005289778] | uncertain significance | 17 | 62536248 | 62536248 | Human | 1 | name |
| 598198933 | CV3924486 | single nucleotide variant | NM_006852.6(TLK2):c.536A>G (p.Gln179Arg) | Inborn genetic diseases [RCV005289782] | uncertain significance | 17 | 62552306 | 62552306 | Human | 1 | name |
| 616939130 | CV4015460 | single nucleotide variant | NM_006852.6(TLK2):c.618A>T (p.Arg206Ser) | not provided [RCV005412972] | uncertain significance | 17 | 62552388 | 62552388 | Human | | name |
| 13532341 | CV512311 | deletion | NM_006852.6(TLK2):c.1746del (p.Ala583fs) | Inborn genetic diseases [RCV000624106] | pathogenic|likely pathogenic | 17 | 62602067 | 62602067 | Human | 1 | name |
| 13706594 | CV539422 | single nucleotide variant | NM_006852.6(TLK2):c.989C>A (p.Ser330Ter) | Intellectual disability, autosomal dominant 57 [RCV000663348] | pathogenic | 17 | 62573235 | 62573235 | Human | 1 | name |
| 13706595 | CV539424 | single nucleotide variant | NM_006852.6(TLK2):c.890G>A (p.Gly297Asp) | Intellectual disability, autosomal dominant 57 [RCV000663350] | pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 17 | 62565059 | 62565059 | Human | 1 | name |
| 14393226 | CV609320 | single nucleotide variant | NM_006852.6(TLK2):c.777C>A (p.Tyr259Ter) | Intellectual disability, autosomal dominant 57 [RCV000755731]|not provided [RCV000782090] | pathogenic|likely pathogenic | 17 | 62560072 | 62560072 | Human | 1 | name |
| 14393224 | CV609321 | single nucleotide variant | NM_006852.6(TLK2):c.784C>T (p.Arg262Ter) | Intellectual disability, autosomal dominant 57 [RCV000755728]|not provided [RCV000760520] | pathogenic | 17 | 62560079 | 62560079 | Human | 1 | name |
| 14393238 | CV609322 | single nucleotide variant | NM_006852.6(TLK2):c.907C>T (p.Arg303Ter) | Intellectual disability, autosomal dominant 57 [RCV000755745]|not provided [RCV000760525] | pathogenic | 17 | 62565076 | 62565076 | Human | 1 | name |
| 14395740 | CV611969 | single nucleotide variant | NM_006852.6(TLK2):c.364C>T (p.Arg122Ter) | Intellectual disability, autosomal dominant 57 [RCV001779073]|not provided [RCV000760336] | pathogenic | 17 | 62536170 | 62536170 | Human | 1 | name |
| 25317417 | CV805975 | single nucleotide variant | NM_006852.6(TLK2):c.367C>T (p.Arg123Ter) | Intellectual disability, autosomal dominant 57 [RCV001249260]|not provided [RCV001008015] | pathogenic|not provided | 17 | 62536173 | 62536173 | Human | 1 | name |
| 25318235 | CV805977 | deletion | NM_006852.6(TLK2):c.1021del (p.Met341fs) | not provided [RCV001008489] | pathogenic | 17 | 62573264 | 62573264 | Human | | name |
| 34890537 | CV904319 | deletion | NM_006852.6(TLK2):c.1771del (p.Asp591fs) | not provided [RCV001171617] | uncertain significance | 17 | 62602092 | 62602092 | Human | | name |
| 39456254 | CV966533 | single nucleotide variant | NM_006852.6(TLK2):c.997G>T (p.Glu333Ter) | Rare genetic intellectual disability [RCV001256999] | likely pathogenic | 17 | 62573243 | 62573243 | Human | | name |
| 40887861 | CV973044 | single nucleotide variant | NM_006852.6(TLK2):c.887T>C (p.Leu296Pro) | Neurodevelopmental disorder [RCV001265559] | likely pathogenic | 17 | 62565056 | 62565056 | Human | 1 | name |
| 40890076 | CV975495 | deletion | NM_006852.6(TLK2):c.1583del (p.Asn528fs) | not provided [RCV001268663] | pathogenic | 17 | 62600681 | 62600681 | Human | | name |
| 126909692 | CV1036896 | single nucleotide variant | NM_006852.6(TLK2):c.1579G>A (p.Gly527Arg) | Intellectual disability, autosomal dominant 57 [RCV001353380] | likely pathogenic | 17 | 62600679 | 62600679 | Human | 1 | name |
| 150335291 | CV1166258 | single nucleotide variant | NM_006852.6(TLK2):c.1886T>C (p.Val629Ala) | not provided [RCV001531439] | uncertain significance | 17 | 62606156 | 62606156 | Human | | name |
| 150335295 | CV1166259 | single nucleotide variant | NM_006852.6(TLK2):c.2171G>A (p.Arg724Gln) | Inborn genetic diseases [RCV002568193]|not provided [RCV001531440] | uncertain significance | 17 | 62612483 | 62612483 | Human | 1 | name |
| 150338123 | CV1173822 | single nucleotide variant | NM_006852.6(TLK2):c.1823G>C (p.Gly608Ala) | not provided [RCV001542065] | likely pathogenic | 17 | 62602144 | 62602144 | Human | | name |
| 150408957 | CV1178184 | single nucleotide variant | NM_006852.6(TLK2):c.1760T>G (p.Ile587Arg) | Inborn genetic diseases [RCV003246983]|Intellectual disability, autosomal dominant 57 [RCV003405708]|not provided [RCV001546085] | likely pathogenic|uncertain significance | 17 | 62602081 | 62602081 | Human | 2 | name |
| 150429463 | CV1189238 | single nucleotide variant | NM_006852.6(TLK2):c.1637G>A (p.Arg546Gln) | Intellectual disability, autosomal dominant 57 [RCV001563642] | conflicting interpretations of pathogenicity|uncertain significance | 17 | 62600737 | 62600737 | Human | 1 | name |
| 150431003 | CV1204078 | single nucleotide variant | NM_006852.6(TLK2):c.1087C>T (p.Arg363Trp) | not provided [RCV001580853] | likely pathogenic | 17 | 62573333 | 62573333 | Human | | name |
| 150438160 | CV1286800 | single nucleotide variant | NM_006852.6(TLK2):c.1971G>C (p.Lys657Asn) | Intellectual disability, autosomal dominant 57 [RCV001724746] | uncertain significance | 17 | 62606241 | 62606241 | Human | 1 | name |
| 150529836 | CV1289206 | single nucleotide variant | NM_006852.6(TLK2):c.2042A>G (p.Gln681Arg) | Intellectual disability, autosomal dominant 57 [RCV001728046] | likely benign | 17 | 62608111 | 62608111 | Human | 1 | name |
| 150551742 | CV1295211 | single nucleotide variant | NM_006852.6(TLK2):c.1458C>A (p.His486Gln) | not provided [RCV001754504] | uncertain significance | 17 | 62586224 | 62586224 | Human | | name |
| 151233274 | CV1317023 | single nucleotide variant | NM_006852.6(TLK2):c.1375G>T (p.Asp459Tyr) | not provided [RCV001786844] | uncertain significance | 17 | 62586141 | 62586141 | Human | | name |
| 151352129 | CV1322290 | single nucleotide variant | NM_006852.6(TLK2):c.1499A>G (p.Asp500Gly) | not provided [RCV001806913] | uncertain significance | 17 | 62596623 | 62596623 | Human | | name |
| 151753369 | CV1501213 | single nucleotide variant | NM_006852.6(TLK2):c.2113G>C (p.Glu705Gln) | not provided [RCV001969425] | uncertain significance | 17 | 62612425 | 62612425 | Human | | name |
| 153002395 | CV1685514 | single nucleotide variant | NM_006852.6(TLK2):c.1355G>A (p.Ser452Asn) | not provided [RCV002259501] | uncertain significance | 17 | 62580179 | 62580179 | Human | | name |
| 153345770 | CV1691413 | single nucleotide variant | NM_006852.6(TLK2):c.2233A>G (p.Asn745Asp) | Intellectual disability, autosomal dominant 57 [RCV002272896] | likely benign | 17 | 62612545 | 62612545 | Human | 1 | name |
| 153345896 | CV1691501 | single nucleotide variant | NM_006852.6(TLK2):c.1366A>T (p.Lys456Ter) | Intellectual disability, autosomal dominant 57 [RCV002272984] | pathogenic | 17 | 62580190 | 62580190 | Human | 1 | name |
| 155265348 | CV1695541 | single nucleotide variant | NM_006852.6(TLK2):c.1718C>T (p.Pro573Leu) | not provided [RCV002280273] | uncertain significance | 17 | 62600818 | 62600818 | Human | | name |
| 155265725 | CV1695617 | single nucleotide variant | NM_006852.6(TLK2):c.1589T>C (p.Leu530Pro) | Intellectual disability, autosomal dominant 57 [RCV002280349] | likely pathogenic | 17 | 62600689 | 62600689 | Human | 1 | name |
| 155803234 | CV1858008 | single nucleotide variant | NM_006852.6(TLK2):c.1219A>G (p.Arg407Gly) | not provided [RCV002461858] | uncertain significance | 17 | 62578507 | 62578507 | Human | | name |
| 155798109 | CV1859592 | single nucleotide variant | NM_006852.6(TLK2):c.1480C>T (p.Arg494Trp) | Intellectual disability, autosomal dominant 57 [RCV002465386] | likely pathogenic | 17 | 62596604 | 62596604 | Human | 1 | name |
| 155945153 | CV1935574 | single nucleotide variant | NM_006852.6(TLK2):c.1303A>C (p.Thr435Pro) | not provided [RCV002511322] | uncertain significance | 17 | 62580127 | 62580127 | Human | | name |
| 156135540 | CV2113293 | single nucleotide variant | NM_006852.6(TLK2):c.1263G>C (p.Arg421Ser) | not provided [RCV002928363] | uncertain significance | 17 | 62578551 | 62578551 | Human | | name |
| 156139571 | CV2212090 | single nucleotide variant | NM_006852.6(TLK2):c.1073A>G (p.Asn358Ser) | Inborn genetic diseases [RCV002696966] | uncertain significance | 17 | 62573319 | 62573319 | Human | 1 | name |
| 156104899 | CV2300844 | single nucleotide variant | NM_006852.6(TLK2):c.1699A>G (p.Ile567Val) | Inborn genetic diseases [RCV002870672] | uncertain significance | 17 | 62600799 | 62600799 | Human | 1 | name |
| 156434775 | CV2403110 | single nucleotide variant | NM_006852.6(TLK2):c.1034G>A (p.Arg345Gln) | not provided [RCV003127066] | uncertain significance | 17 | 62573280 | 62573280 | Human | | name |
| 243052539 | CV2404407 | single nucleotide variant | NM_006852.6(TLK2):c.1045G>A (p.Ala349Thr) | not provided [RCV003129433] | uncertain significance | 17 | 62573291 | 62573291 | Human | | name |
| 243062984 | CV2414102 | single nucleotide variant | NM_006852.6(TLK2):c.1511T>G (p.Ile504Arg) | Intellectual disability, autosomal dominant 57 [RCV003141021]|not provided [RCV003159246] | uncertain significance | 17 | 62596635 | 62596635 | Human | 1 | name |
| 329359036 | CV2450809 | single nucleotide variant | NM_006852.6(TLK2):c.1382C>T (p.Thr461Ile) | Inborn genetic diseases [RCV003204279] | uncertain significance | 17 | 62586148 | 62586148 | Human | 1 | name |
| 329352059 | CV2476694 | single nucleotide variant | NM_006852.6(TLK2):c.1811A>G (p.Asn604Ser) | not provided [RCV003222926] | uncertain significance | 17 | 62602132 | 62602132 | Human | | name |
| 329350836 | CV2477668 | single nucleotide variant | NM_006852.6(TLK2):c.1637G>C (p.Arg546Pro) | not provided [RCV003223780] | uncertain significance | 17 | 62600737 | 62600737 | Human | | name |
| 329953432 | CV2668411 | single nucleotide variant | NM_006852.6(TLK2):c.2057C>T (p.Pro686Leu) | not provided [RCV003230064] | uncertain significance | 17 | 62608126 | 62608126 | Human | | name |
| 329952075 | CV2671579 | single nucleotide variant | NM_006852.6(TLK2):c.1717C>G (p.Pro573Ala) | not provided [RCV003236975] | uncertain significance | 17 | 62600817 | 62600817 | Human | | name |
| 401799233 | CV2741811 | single nucleotide variant | NM_006852.6(TLK2):c.1784C>G (p.Ser595Trp) | not provided [RCV003323219] | uncertain significance | 17 | 62602105 | 62602105 | Human | | name |
| 401828714 | CV2743049 | single nucleotide variant | NM_006852.6(TLK2):c.1568A>G (p.Glu523Gly) | not provided [RCV003325757] | uncertain significance | 17 | 62600668 | 62600668 | Human | | name |
| 401830433 | CV2748135 | single nucleotide variant | NM_006852.6(TLK2):c.1642A>C (p.Ile548Leu) | not provided [RCV003329742] | uncertain significance | 17 | 62600742 | 62600742 | Human | | name |
| 401891104 | CV2778646 | single nucleotide variant | NM_006852.6(TLK2):c.1230G>T (p.Arg410Ser) | Inborn genetic diseases [RCV003354762] | uncertain significance | 17 | 62578518 | 62578518 | Human | 1 | name |
| 401931852 | CV2803967 | single nucleotide variant | NM_006852.6(TLK2):c.1964G>C (p.Gly655Ala) | TLK2-related disorder [RCV004528770] | uncertain significance | 17 | 62606234 | 62606234 | Human | | name , trait , alternate_id |
| 401931627 | CV2804015 | single nucleotide variant | NM_006852.6(TLK2):c.1973C>T (p.Pro658Leu) | TLK2-related disorder [RCV004528776] | uncertain significance | 17 | 62608042 | 62608042 | Human | | name , trait , alternate_id |
| 404999376 | CV2851273 | single nucleotide variant | NM_006852.6(TLK2):c.1310A>G (p.Asn437Ser) | Intellectual disability, autosomal dominant 57 [RCV003493194] | uncertain significance | 17 | 62580134 | 62580134 | Human | 1 | name |
| 405267881 | CV3186928 | single nucleotide variant | NM_006852.6(TLK2):c.1195G>A (p.Ala399Thr) | Intellectual disability, autosomal dominant 57 [RCV004784194]|not provided [RCV003887011] | uncertain significance | 17 | 62578483 | 62578483 | Human | 1 | name |
| 405291142 | CV3222102 | single nucleotide variant | NM_006852.6(TLK2):c.2119C>T (p.Arg707Cys) | Intellectual disability, autosomal dominant 57 [RCV003984921] | uncertain significance | 17 | 62612431 | 62612431 | Human | 1 | name |
| 405707814 | CV3225427 | single nucleotide variant | NM_006852.6(TLK2):c.1783T>C (p.Ser595Pro) | Intellectual disability, autosomal dominant 57 [RCV003990482] | likely pathogenic | 17 | 62602104 | 62602104 | Human | 1 | name |
| 405853965 | CV3395370 | single nucleotide variant | NM_006852.6(TLK2):c.1016G>C (p.Arg339Pro) | Intellectual disability, autosomal dominant 57 [RCV004555507] | uncertain significance | 17 | 62573262 | 62573262 | Human | 1 | name |
| 405855158 | CV3395756 | single nucleotide variant | NM_006852.6(TLK2):c.2133G>C (p.Gln711His) | Intellectual disability, autosomal dominant 57 [RCV004556019] | uncertain significance | 17 | 62612445 | 62612445 | Human | 1 | name |
| 407470126 | CV3415638 | single nucleotide variant | NM_006852.6(TLK2):c.1147C>T (p.Gln383Ter) | Intellectual disability, autosomal dominant 57 [RCV004598521] | likely pathogenic | 17 | 62576734 | 62576734 | Human | 1 | name |
| 407520842 | CV3475830 | single nucleotide variant | NM_006852.6(TLK2):c.2093G>A (p.Arg698Gln) | Inborn genetic diseases [RCV004677088] | uncertain significance | 17 | 62612405 | 62612405 | Human | 1 | name |
| 407520844 | CV3475831 | single nucleotide variant | NM_006852.6(TLK2):c.1729C>A (p.Leu577Ile) | Inborn genetic diseases [RCV004677089] | uncertain significance | 17 | 62602050 | 62602050 | Human | 1 | name |
| 408369708 | CV3502850 | single nucleotide variant | NM_006852.6(TLK2):c.1772A>G (p.Asp591Gly) | not provided [RCV004723971] | uncertain significance | 17 | 62602093 | 62602093 | Human | | name |
| 408369180 | CV3509006 | single nucleotide variant | NM_006852.6(TLK2):c.1729C>G (p.Leu577Val) | TLK2-related disorder [RCV004736624] | uncertain significance | 17 | 62602050 | 62602050 | Human | | name , trait , alternate_id |
| 408385268 | CV3526046 | single nucleotide variant | NM_006852.6(TLK2):c.2013G>C (p.Glu671Asp) | not specified [RCV004766957] | uncertain significance | 17 | 62608082 | 62608082 | Human | | name |
| 596922854 | CV3530132 | single nucleotide variant | NM_006852.6(TLK2):c.2095T>C (p.Cys699Arg) | not provided [RCV004776731] | uncertain significance | 17 | 62612407 | 62612407 | Human | | name |
| 596923437 | CV3530422 | single nucleotide variant | NM_006852.6(TLK2):c.1356T>G (p.Ser452Arg) | not provided [RCV004777021] | uncertain significance | 17 | 62580180 | 62580180 | Human | | name |
| 596930121 | CV3531370 | single nucleotide variant | NM_006852.6(TLK2):c.1303A>G (p.Thr435Ala) | not provided [RCV004779944] | uncertain significance | 17 | 62580127 | 62580127 | Human | | name |
| 596924153 | CV3532111 | single nucleotide variant | NM_006852.6(TLK2):c.2144G>C (p.Cys715Ser) | not provided [RCV004777222] | likely benign|uncertain significance | 17 | 62612456 | 62612456 | Human | | name |
| 596921247 | CV3534865 | single nucleotide variant | NM_006852.6(TLK2):c.1636C>G (p.Arg546Gly) | not provided [RCV004784423] | uncertain significance | 17 | 62600736 | 62600736 | Human | | name |
| 596921925 | CV3535554 | single nucleotide variant | NM_006852.6(TLK2):c.1561G>A (p.Val521Ile) | Intellectual disability, autosomal dominant 57 [RCV004785109] | uncertain significance | 17 | 62600661 | 62600661 | Human | 1 | name |
| 596943588 | CV3542777 | single nucleotide variant | NM_006852.6(TLK2):c.1837T>G (p.Ser613Ala) | not provided [RCV004798361] | uncertain significance | 17 | 62602158 | 62602158 | Human | | name |
| 597656170 | CV3731549 | single nucleotide variant | NM_006852.6(TLK2):c.1649T>C (p.Met550Thr) | not provided [RCV005001730] | uncertain significance | 17 | 62600749 | 62600749 | Human | | name |
| 597667791 | CV3732720 | single nucleotide variant | NM_006852.6(TLK2):c.1769C>G (p.Thr590Arg) | not provided [RCV005004551] | uncertain significance | 17 | 62602090 | 62602090 | Human | | name |
| 597834125 | CV3735764 | single nucleotide variant | NM_006852.6(TLK2):c.1856A>G (p.Tyr619Cys) | not provided [RCV005063627] | uncertain significance | 17 | 62602177 | 62602177 | Human | | name |
| 597925198 | CV3863438 | single nucleotide variant | NM_006852.6(TLK2):c.2161C>A (p.Pro721Thr) | not provided [RCV005205763] | uncertain significance | 17 | 62612473 | 62612473 | Human | | name |
| 598124787 | CV3883681 | single nucleotide variant | NM_006852.6(TLK2):c.1330C>T (p.His444Tyr) | not provided [RCV005236035] | uncertain significance | 17 | 62580154 | 62580154 | Human | | name |
| 598218860 | CV3891720 | single nucleotide variant | NM_006852.6(TLK2):c.1624G>T (p.Glu542Ter) | Intellectual disability, autosomal dominant 57 [RCV005252563] | likely pathogenic | 17 | 62600724 | 62600724 | Human | 1 | name |
| 598237325 | CV3893419 | single nucleotide variant | NM_006852.6(TLK2):c.1216G>C (p.Glu406Gln) | not provided [RCV005256152] | uncertain significance | 17 | 62578504 | 62578504 | Human | | name |
| 598198895 | CV3924479 | single nucleotide variant | NM_006852.6(TLK2):c.1058C>T (p.Ala353Val) | Inborn genetic diseases [RCV005289776] | likely benign | 17 | 62573304 | 62573304 | Human | 1 | name |
| 598198902 | CV3924480 | single nucleotide variant | NM_006852.6(TLK2):c.1903A>G (p.Lys635Glu) | Inborn genetic diseases [RCV005289777] | uncertain significance | 17 | 62606173 | 62606173 | Human | 1 | name |
| 598198913 | CV3924482 | single nucleotide variant | NM_006852.6(TLK2):c.1967G>A (p.Arg656Lys) | Inborn genetic diseases [RCV005289779] | uncertain significance | 17 | 62606237 | 62606237 | Human | 1 | name |
| 598177001 | CV3924487 | single nucleotide variant | NM_006852.6(TLK2):c.1001A>T (p.Glu334Val) | Inborn genetic diseases [RCV005285748] | uncertain significance | 17 | 62573247 | 62573247 | Human | 1 | name |
| 616938439 | CV4012934 | single nucleotide variant | NM_006852.6(TLK2):c.1191G>C (p.Glu397Asp) | not provided [RCV005410399] | uncertain significance | 17 | 62578479 | 62578479 | Human | | name |
| 616938208 | CV4013121 | single nucleotide variant | NM_006852.6(TLK2):c.1115A>G (p.Asn372Ser) | not provided [RCV005410588] | uncertain significance | 17 | 62573361 | 62573361 | Human | | name |
| 616939758 | CV4014666 | single nucleotide variant | NM_006852.6(TLK2):c.1924G>A (p.Val642Met) | not provided [RCV005414160] | uncertain significance | 17 | 62606194 | 62606194 | Human | | name |
| 617149613 | CV4017600 | single nucleotide variant | NM_006852.6(TLK2):c.1245T>G (p.His415Gln) | not provided [RCV005417258] | uncertain significance | 17 | 62578533 | 62578533 | Human | | name |
| 13509676 | CV482150 | single nucleotide variant | NM_006852.6(TLK2):c.2092C>T (p.Arg698Ter) | Intellectual disability, autosomal dominant 57 [RCV000663347]|not provided [RCV001268407] | pathogenic|likely pathogenic|uncertain significance | 17 | 62612404 | 62612404 | Human | 1 | name |
| 14393231 | CV609323 | single nucleotide variant | NM_006852.6(TLK2):c.1015C>T (p.Arg339Trp) | Intellectual disability, autosomal dominant 57 [RCV000755736]|not provided [RCV001785717] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 17 | 62573261 | 62573261 | Human | 1 | name |
| 14393221 | CV609324 | single nucleotide variant | NM_006852.6(TLK2):c.1016G>A (p.Arg339Gln) | Intellectual disability, autosomal dominant 57 [RCV000755724]|not provided [RCV004723151] | pathogenic|uncertain significance | 17 | 62573262 | 62573262 | Human | 1 | name |
| 14393237 | CV609325 | single nucleotide variant | NM_006852.6(TLK2):c.1273G>A (p.Glu425Lys) | Intellectual disability, autosomal dominant 57 [RCV000755744] | uncertain significance | 17 | 62578561 | 62578561 | Human | 1 | name |
| 14393215 | CV609326 | single nucleotide variant | NM_006852.6(TLK2):c.1412A>G (p.His471Arg) | Intellectual disability, autosomal dominant 57 [RCV000755713] | likely pathogenic | 17 | 62586178 | 62586178 | Human | 1 | name |
| 14393235 | CV609327 | single nucleotide variant | NM_006852.6(TLK2):c.1487A>G (p.His496Arg) | Intellectual disability, autosomal dominant 57 [RCV000755742] | likely pathogenic | 17 | 62596611 | 62596611 | Human | 1 | name |
| 14393236 | CV609328 | single nucleotide variant | NM_006852.6(TLK2):c.1636C>T (p.Arg546Trp) | Intellectual disability, autosomal dominant 57 [RCV000755743]|not provided [RCV002293477] | pathogenic|likely pathogenic | 17 | 62600736 | 62600736 | Human | 1 | name |
| 14393242 | CV609329 | single nucleotide variant | NM_006852.6(TLK2):c.1651C>T (p.Gln551Ter) | Intellectual disability, autosomal dominant 57 [RCV000755753] | pathogenic | 17 | 62600751 | 62600751 | Human | 1 | name |
| 14393211 | CV609330 | single nucleotide variant | NM_006852.6(TLK2):c.1819G>A (p.Asp607Asn) | Intellectual disability, autosomal dominant 57 [RCV000755707] | likely pathogenic | 17 | 62602140 | 62602140 | Human | 1 | name |
| 14393220 | CV609331 | single nucleotide variant | NM_006852.6(TLK2):c.1973C>G (p.Pro658Arg) | Intellectual disability, autosomal dominant 57 [RCV000755723] | likely pathogenic | 17 | 62608042 | 62608042 | Human | 1 | name |
| 14393227 | CV609332 | single nucleotide variant | NM_006852.6(TLK2):c.2170C>T (p.Arg724Ter) | Intellectual disability, autosomal dominant 57 [RCV000755732]|not provided [RCV003222122] | likely pathogenic|uncertain significance | 17 | 62612482 | 62612482 | Human | 1 | name |
| 14395811 | CV611869 | single nucleotide variant | NM_006852.6(TLK2):c.1910C>G (p.Ser637Ter) | not provided [RCV000760508] | pathogenic | 17 | 62606180 | 62606180 | Human | | name |
| 14395805 | CV611870 | single nucleotide variant | NM_006852.6(TLK2):c.1928G>A (p.Trp643Ter) | not provided [RCV000760497] | pathogenic | 17 | 62606198 | 62606198 | Human | | name |
| 14395884 | CV611871 | single nucleotide variant | NM_006852.6(TLK2):c.2089C>T (p.Arg697Ter) | not provided [RCV000760601] | pathogenic|likely pathogenic | 17 | 62612401 | 62612401 | Human | | name |
| 14395970 | CV611970 | single nucleotide variant | NM_006852.6(TLK2):c.1860G>A (p.Trp620Ter) | not provided [RCV000760692] | likely pathogenic | 17 | 62606130 | 62606130 | Human | | name |
| 14746788 | CV672104 | single nucleotide variant | NM_006852.6(TLK2):c.1832T>G (p.Leu611Arg) | TLK2-related disorder [RCV000845012] | not provided | 17 | 62602153 | 62602153 | Human | | name , trait , alternate_id |
| 14978441 | CV677456 | single nucleotide variant | NM_006852.6(TLK2):c.2107C>T (p.Arg703Ter) | Intellectual disability, autosomal dominant 57 [RCV000850609]|not provided [RCV001593057] | pathogenic | 17 | 62612419 | 62612419 | Human | 1 | name |
| 21075655 | CV797585 | single nucleotide variant | NM_006852.6(TLK2):c.2153A>G (p.Tyr718Cys) | not provided [RCV000996593] | likely pathogenic | 17 | 62612465 | 62612465 | Human | | name |
| 26904011 | CV845835 | single nucleotide variant | NM_006852.6(TLK2):c.1430G>A (p.Trp477Ter) | not provided [RCV001070154] | pathogenic | 17 | 62586196 | 62586196 | Human | | name |
| 28886639 | CV860423 | single nucleotide variant | NM_006852.6(TLK2):c.1778G>A (p.Gly593Asp) | not provided [RCV001091881] | likely pathogenic | 17 | 62602099 | 62602099 | Human | | name |
| 39456942 | CV966300 | single nucleotide variant | NM_006852.6(TLK2):c.1648A>T (p.Met550Leu) | Intellectual disability, autosomal dominant 57 [RCV004799397] | uncertain significance | 17 | 62600748 | 62600748 | Human | 1 | name |
| 40815982 | CV966892 | single nucleotide variant | NM_006852.6(TLK2):c.1357G>T (p.Glu453Ter) | Intellectual disability, autosomal dominant 57 [RCV001257568] | pathogenic | 17 | 62580181 | 62580181 | Human | 1 | name |
| 40815983 | CV966893 | single nucleotide variant | NM_006852.6(TLK2):c.1586A>G (p.Asp529Gly) | Intellectual disability, autosomal dominant 57 [RCV001257569] | pathogenic|likely pathogenic | 17 | 62600686 | 62600686 | Human | 1 | name |
| 40815985 | CV966895 | single nucleotide variant | NM_006852.6(TLK2):c.1784C>T (p.Ser595Leu) | Intellectual disability [RCV004798899]|Intellectual disability, autosomal dominant 57 [RCV001257571]|not provided [RCV004774364] | pathogenic|likely pathogenic | 17 | 62602105 | 62602105 | Human | 3 | name |
| 15174220 | CV679141 | single nucleotide variant | NM_001284363.1(TLK2):c.248A>G (p.Lys83Arg) | Esophageal atresia [RCV000984763] | uncertain significance | 17 | 62523158 | 62523158 | Human | 1 | name |
| 150536153 | CV1312310 | deletion | NM_006852.6(TLK2):c.717_718del (p.Arg240fs) | Neurodevelopmental disorder [RCV001780072] | likely pathogenic | 17 | 62553752 | 62553753 | Human | 1 | name |
| 407506157 | CV3496114 | deletion | NM_006852.6(TLK2):c.839_840del (p.Gln280fs) | not provided [RCV004697954] | pathogenic | 17 | 62565008 | 62565009 | Human | | name |
| 25320145 | CV805976 | microsatellite | NM_006852.6(TLK2):c.482_483del (p.Thr161fs) | not provided [RCV001009137] | likely pathogenic | 17 | 62536285 | 62536286 | Human | | name |
| 40889711 | CV975493 | deletion | NM_006852.6(TLK2):c.600_601del (p.Gln200fs) | not provided [RCV001268147] | likely pathogenic | 17 | 62552369 | 62552370 | Human | | name |
| 156052587 | CV2192491 | microsatellite | NM_006852.6(TLK2):c.1039CCT[1] (p.Pro348del) | not provided [RCV003036962] | uncertain significance | 17 | 62573285 | 62573287 | Human | | name |
| 150549063 | CV1294670 | deletion | NM_006852.6(TLK2):c.1456_1458del (p.His486del) | Intellectual disability, autosomal dominant 57 [RCV002074003]|not provided [RCV001752162] | uncertain significance | 17 | 62586220 | 62586222 | Human | 1 | name |
| 151350159 | CV1324613 | deletion | NM_006852.6(TLK2):c.2065_2067del (p.Thr689del) | Intellectual disability, autosomal dominant 57 [RCV001809058] | uncertain significance | 17 | 62608133 | 62608135 | Human | 1 | name |
| 408370091 | CV3502991 | deletion | NM_006852.6(TLK2):c.1447_1449del (p.Glu483del) | not provided [RCV004724112] | uncertain significance | 17 | 62586211 | 62586213 | Human | | name |
| 40886829 | CV974080 | microsatellite | NM_006852.6(TLK2):c.859_860del (p.Arg286_Asp287insTer) | Inborn genetic diseases [RCV001266099] | pathogenic | 17 | 62565025 | 62565026 | Human | | name |
| 150545166 | CV1315454 | insertion | NM_006852.6(TLK2):c.6_7insTTCTTCAATAGTT (p.Glu3delinsPhePheAsnSerTer) | Intellectual disability, autosomal dominant 57 [RCV001783871] | likely pathogenic | 17 | 62481131 | 62481132 | Human | | name |
| 408371633 | CV3503928 | indel | NM_006852.6(TLK2):c.2144delinsACTTGTTGCCTCACATCAACCAGCAGCAGGC (p.Cys715delinsTyrLeuLeuProHisIleAsnGlnGlnGlnAla) | TLK2-related disorder [RCV004724724] | uncertain significance | 17 | 62612456 | 62612456 | Human | | name , trait , alternate_id |
