| 127233561 | CV1081038 | single nucleotide variant | NM_170675.5(MEIS2):c.490-7G>A | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001396173] | likely benign | 15 | 37093737 | 37093737 | Human | 1 | name |
| 150453300 | CV1275415 | single nucleotide variant | NM_170675.5(MEIS2):c.977+2T>G | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001706930] | pathogenic | 15 | 36950322 | 36950322 | Human | 1 | name |
| 151235827 | CV1319253 | single nucleotide variant | NM_170675.5(MEIS2):c.438+5G>T | not provided [RCV001797198] | uncertain significance | 15 | 37095559 | 37095559 | Human | | name |
| 152116082 | CV1519369 | single nucleotide variant | NM_170675.5(MEIS2):c.639+1G>A | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002216148] | pathogenic | 15 | 37093580 | 37093580 | Human | 1 | name |
| 152076347 | CV1542866 | single nucleotide variant | NM_170675.5(MEIS2):c.13-19C>A | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002130269] | benign | 15 | 37098218 | 37098218 | Human | 1 | name |
| 156004896 | CV1984233 | single nucleotide variant | NM_170675.5(MEIS2):c.13-19C>G | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002618620] | likely benign | 15 | 37098218 | 37098218 | Human | 1 | name |
| 401797121 | CV2740887 | single nucleotide variant | NM_170675.5(MEIS2):c.977+1G>A | not provided [RCV003322051] | pathogenic | 15 | 36950323 | 36950323 | Human | | name |
| 405050271 | CV2869177 | single nucleotide variant | NM_170675.5(MEIS2):c.754+7G>C | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003592783] | likely benign | 15 | 37083764 | 37083764 | Human | 1 | name |
| 405273731 | CV3198127 | single nucleotide variant | NM_170675.5(MEIS2):c.388-1G>A | MEIS2-related disorder [RCV004534567] | likely pathogenic | 15 | 37095615 | 37095615 | Human | | name , trait |
| 408391209 | CV3527925 | single nucleotide variant | NM_170675.5(MEIS2):c.388-3C>G | not provided [RCV004775197] | uncertain significance | 15 | 37095617 | 37095617 | Human | | name |
| 597970969 | CV3802384 | single nucleotide variant | NM_170675.5(MEIS2):c.12+18A>G | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV005141982] | likely benign | 15 | 37099437 | 37099437 | Human | 1 | name |
| 598160191 | CV3897233 | single nucleotide variant | NM_170675.5(MEIS2):c.977+4A>T | not provided [RCV005368207] | uncertain significance | 15 | 36950320 | 36950320 | Human | | name |
| 13609068 | CV535328 | single nucleotide variant | NM_170675.5(MEIS2):c.978-2A>G | not provided [RCV000656287] | pathogenic | 15 | 36896688 | 36896688 | Human | | name |
| 38597630 | CV965333 | single nucleotide variant | NM_170675.5(MEIS2):c.754+2T>C | not provided [RCV001254811] | likely pathogenic | 15 | 37083769 | 37083769 | Human | | name |
| 126766653 | CV996217 | single nucleotide variant | NM_170675.5(MEIS2):c.387+6G>C | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001301970] | uncertain significance | 15 | 37096283 | 37096283 | Human | 1 | name |
| 152130950 | CV1631042 | single nucleotide variant | NM_170675.5(MEIS2):c.246-17G>C | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002119079] | likely benign | 15 | 37096447 | 37096447 | Human | 1 | name |
| 156014000 | CV2133911 | single nucleotide variant | NM_170675.5(MEIS2):c.438+16C>T | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003017895] | likely benign | 15 | 37095548 | 37095548 | Human | 1 | name |
| 401830967 | CV2748615 | single nucleotide variant | NM_170675.5(MEIS2):c.1148-1G>T | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003330265] | uncertain significance | 15 | 36892460 | 36892460 | Human | 1 | name |
| 405162928 | CV2970841 | single nucleotide variant | NM_170675.5(MEIS2):c.490-16A>G | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003757438] | likely benign | 15 | 37093746 | 37093746 | Human | 1 | name |
| 597867634 | CV3858199 | single nucleotide variant | NM_170675.5(MEIS2):c.1147+5G>C | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV005196942] | uncertain significance | 15 | 36895146 | 36895146 | Human | 1 | name |
| 598225617 | CV3985786 | single nucleotide variant | NM_170675.5(MEIS2):c.640-29G>A | Inborn genetic diseases [RCV005380433] | uncertain significance | 15 | 37083914 | 37083914 | Human | 1 | name |
| 152123392 | CV1594295 | single nucleotide variant | NM_170675.5(MEIS2):c.1147+18G>A | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002175878] | likely benign | 15 | 36895133 | 36895133 | Human | 1 | name |
| 156243789 | CV2105491 | single nucleotide variant | NM_170675.5(MEIS2):c.1147+17C>T | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002933298] | likely benign | 15 | 36895134 | 36895134 | Human | 1 | name |
| 155799218 | CV1862407 | deletion | NM_170675.5(MEIS2):c.1147+347del | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002471813] | uncertain significance | 15 | 36894804 | 36894804 | Human | 1 | name |
| 156449211 | CV1944469 | single nucleotide variant | NM_170675.5(MEIS2):c.1147+356G>A | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003121324] | uncertain significance | 15 | 36894795 | 36894795 | Human | 1 | name |
| 156271629 | CV2035829 | microsatellite | NM_170675.5(MEIS2):c.388-17CT[2] | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002770064] | benign | 15 | 37095626 | 37095627 | Human | | name |
| 156320605 | CV2100960 | single nucleotide variant | NM_170675.5(MEIS2):c.1147+359A>G | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002899263] | benign|uncertain significance | 15 | 36894792 | 36894792 | Human | 1 | name |
| 405164688 | CV2998384 | single nucleotide variant | NM_170675.5(MEIS2):c.1147+344A>G | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003757595] | uncertain significance | 15 | 36894807 | 36894807 | Human | 1 | name |
| 405131520 | CV3115108 | single nucleotide variant | NM_170675.5(MEIS2):c.1147+355G>T | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003815953] | uncertain significance | 15 | 36894796 | 36894796 | Human | 1 | name |
| 150510111 | CV1286682 | single nucleotide variant | NM_170675.5(MEIS2):c.755-20642A>G | not provided [RCV001720917] | benign | 15 | 37057601 | 37057601 | Human | | name |
| 151663539 | CV1334018 | single nucleotide variant | NM_170675.5(MEIS2):c.755-11878A>G | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001839192] | uncertain significance | 15 | 37048837 | 37048837 | Human | 1 | name |
| 156244627 | CV1992709 | single nucleotide variant | NM_170675.5(MEIS2):c.6G>A (p.Ala2=) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002627251] | likely benign | 15 | 37099461 | 37099461 | Human | 1 | name |
| 127300046 | CV1157434 | single nucleotide variant | NM_170675.5(MEIS2):c.24G>T (p.Leu8=) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001513952] | benign | 15 | 37098188 | 37098188 | Human | 1 | name |
| 597912693 | CV3778308 | single nucleotide variant | NM_170675.5(MEIS2):c.36C>A (p.Gly12=) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV005128847] | likely benign | 15 | 37098176 | 37098176 | Human | 1 | name |
| 13607719 | CV529250 | single nucleotide variant | NM_170675.5(MEIS2):c.96G>T (p.Pro32=) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV000639623] | likely benign | 15 | 37098116 | 37098116 | Human | 1 | name |
| 15145522 | CV714399 | single nucleotide variant | NM_170675.5(MEIS2):c.60C>G (p.Pro20=) | not provided [RCV000967012] | likely benign | 15 | 37098152 | 37098152 | Human | | name |
| 15131340 | CV770114 | single nucleotide variant | NM_170675.5(MEIS2):c.39G>A (p.Gly13=) | not provided [RCV000942206] | likely benign | 15 | 37098173 | 37098173 | Human | | name |
| 151788695 | CV1480149 | single nucleotide variant | NM_170675.5(MEIS2):c.17A>C (p.Asp6Ala) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001899021] | uncertain significance | 15 | 37098195 | 37098195 | Human | 1 | name |
| 152096017 | CV1583321 | single nucleotide variant | NM_170675.5(MEIS2):c.120C>T (p.Asn40=) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002132639]|not provided [RCV003408140] | likely benign | 15 | 37098092 | 37098092 | Human | 1 | name |
| 401937828 | CV2796775 | single nucleotide variant | NM_170675.5(MEIS2):c.15C>G (p.Tyr5Ter) | MEIS2-related disorder [RCV004531592] | uncertain significance | 15 | 37098197 | 37098197 | Human | | name , trait |
| 405167484 | CV3020402 | single nucleotide variant | NM_170675.5(MEIS2):c.132G>T (p.Pro44=) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003757866] | uncertain significance | 15 | 37098080 | 37098080 | Human | 1 | name |
| 405261192 | CV3212528 | single nucleotide variant | NM_170675.5(MEIS2):c.153C>T (p.Tyr51=) | MEIS2-related disorder [RCV004544068] | likely benign | 15 | 37098059 | 37098059 | Human | | name , trait |
| 405279020 | CV3217317 | single nucleotide variant | NM_170675.5(MEIS2):c.223C>A (p.Arg75=) | MEIS2-related disorder [RCV004542459] | likely benign | 15 | 37097989 | 37097989 | Human | | name , trait |
| 597868575 | CV3838766 | single nucleotide variant | NM_170675.5(MEIS2):c.18T>A (p.Asp6Glu) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV005176062] | likely benign | 15 | 37098194 | 37098194 | Human | 1 | name |
| 597877276 | CV3860239 | single nucleotide variant | NM_170675.5(MEIS2):c.105G>C (p.Pro35=) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV005198448] | likely benign | 15 | 37098107 | 37098107 | Human | 1 | name |
| 15172932 | CV726019 | single nucleotide variant | NM_170675.5(MEIS2):c.237G>T (p.Ala79=) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001432312] | likely benign | 15 | 37097975 | 37097975 | Human | 1 | name |
| 15159413 | CV754397 | single nucleotide variant | NM_170675.5(MEIS2):c.150C>T (p.His50=) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002066017] | likely benign | 15 | 37098062 | 37098062 | Human | 1 | name |
| 127299544 | CV1124289 | single nucleotide variant | NM_170675.5(MEIS2):c.603A>G (p.Glu201=) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001453616] | likely benign | 15 | 37093617 | 37093617 | Human | 1 | name |
| 151709778 | CV1433187 | single nucleotide variant | NM_170675.5(MEIS2):c.780T>G (p.Ala260=) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001994907] | likely benign | 15 | 37036934 | 37036934 | Human | 1 | name |
| 152045587 | CV1556146 | single nucleotide variant | NM_170675.5(MEIS2):c.897C>T (p.Leu299=) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002206887] | likely benign | 15 | 37036817 | 37036817 | Human | 1 | name |
| 155642080 | CV1707235 | duplication | NM_170675.5(MEIS2):c.104dup (p.Val36fs) | not provided [RCV002288165] | pathogenic | 15 | 37098107 | 37098108 | Human | | name |
| 156335785 | CV1906004 | single nucleotide variant | NM_170675.5(MEIS2):c.327T>C (p.Ala109=) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003090057] | likely benign | 15 | 37096349 | 37096349 | Human | 1 | name |
| 156218542 | CV1960034 | single nucleotide variant | NM_170675.5(MEIS2):c.579C>T (p.Asp193=) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002575434] | likely benign | 15 | 37093641 | 37093641 | Human | 1 | name |
| 156264419 | CV2282660 | single nucleotide variant | NM_170675.5(MEIS2):c.52G>C (p.Gly18Arg) | Inborn genetic diseases [RCV002831916] | uncertain significance | 15 | 37098160 | 37098160 | Human | 1 | name |
| 401935026 | CV2798157 | single nucleotide variant | NM_170675.5(MEIS2):c.855A>G (p.Lys285=) | MEIS2-related disorder [RCV004539015] | uncertain significance | 15 | 37036859 | 37036859 | Human | | name , trait |
| 404999080 | CV2850457 | single nucleotide variant | NM_170675.5(MEIS2):c.582C>A (p.Gly194=) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003493078] | uncertain significance | 15 | 37093638 | 37093638 | Human | 1 | name |
| 405054893 | CV2893932 | single nucleotide variant | NM_170675.5(MEIS2):c.330C>T (p.Gly110=) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003593207] | likely benign | 15 | 37096346 | 37096346 | Human | 1 | name |
| 405260777 | CV3204344 | single nucleotide variant | NM_170675.5(MEIS2):c.813T>C (p.Asp271=) | MEIS2-related disorder [RCV004542409] | likely benign | 15 | 37036901 | 37036901 | Human | | name , trait |
| 597971765 | CV3802692 | single nucleotide variant | NM_170675.5(MEIS2):c.615C>T (p.Gly205=) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV005142290] | likely benign | 15 | 37093605 | 37093605 | Human | 1 | name |
| 598122796 | CV3889948 | deletion | NM_170675.5(MEIS2):c.170del (p.His57fs) | Syndromic intellectual disability [RCV005250465] | likely pathogenic | 15 | 37098042 | 37098042 | Human | 1 | name |
| 598241497 | CV3985789 | single nucleotide variant | NM_170675.5(MEIS2):c.37G>A (p.Gly13Arg) | Inborn genetic diseases [RCV005364824] | uncertain significance | 15 | 37098175 | 37098175 | Human | 1 | name |
| 13211529 | CV426091 | single nucleotide variant | NM_170675.5(MEIS2):c.38G>A (p.Gly13Glu) | not provided [RCV000497572] | uncertain significance | 15 | 37098174 | 37098174 | Human | | name |
| 13607724 | CV528769 | single nucleotide variant | NM_170675.5(MEIS2):c.732C>T (p.Ser244=) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV000639620]|MEIS2-related disorder [RCV004533340] | benign | 15 | 37083793 | 37083793 | Human | 1 | name , trait |
| 13607721 | CV528776 | single nucleotide variant | NM_170675.5(MEIS2):c.507T>C (p.Asp169=) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV000639622]|MEIS2-related disorder [RCV004544846] | benign | 15 | 37093713 | 37093713 | Human | 1 | name , trait |
| 13607723 | CV529104 | single nucleotide variant | NM_170675.5(MEIS2):c.471T>C (p.His157=) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001433579]|MEIS2-related disorder [RCV004533341]|not provided [RCV003403473] | likely benign | 15 | 37094545 | 37094545 | Human | 1 | name , trait |
| 15142811 | CV693659 | single nucleotide variant | NM_170675.5(MEIS2):c.939G>A (p.Ala313=) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002064895] | likely benign | 15 | 36950362 | 36950362 | Human | 1 | name |
| 15128509 | CV693660 | single nucleotide variant | NM_170675.5(MEIS2):c.810G>A (p.Pro270=) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001498818]|MEIS2-related disorder [RCV004541744] | likely benign | 15 | 37036904 | 37036904 | Human | 1 | name , trait |
| 15141199 | CV693661 | single nucleotide variant | NM_170675.5(MEIS2):c.657A>G (p.Arg219=) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV000877630] | likely benign | 15 | 37083868 | 37083868 | Human | 1 | name |
| 15147414 | CV693662 | single nucleotide variant | NM_170675.5(MEIS2):c.630C>T (p.Leu210=) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001520384] | benign | 15 | 37093590 | 37093590 | Human | 1 | name |
| 15188210 | CV703142 | single nucleotide variant | NM_170675.5(MEIS2):c.915C>T (p.Ser305=) | not provided [RCV000953814] | likely benign | 15 | 36950386 | 36950386 | Human | | name |
| 15186989 | CV739570 | single nucleotide variant | NM_170675.5(MEIS2):c.687A>C (p.Ser229=) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV000908966] | likely benign | 15 | 37083838 | 37083838 | Human | 1 | name |
| 15200749 | CV754396 | single nucleotide variant | NM_170675.5(MEIS2):c.561C>T (p.Leu187=) | not provided [RCV000912934] | likely benign | 15 | 37093659 | 37093659 | Human | | name |
| 15107170 | CV784898 | single nucleotide variant | NM_170675.5(MEIS2):c.495C>T (p.His165=) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001496761] | likely benign | 15 | 37093725 | 37093725 | Human | 1 | name |
| 26915729 | CV842239 | single nucleotide variant | NM_170675.5(MEIS2):c.97A>G (p.Ile33Val) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001055905] | uncertain significance | 15 | 37098115 | 37098115 | Human | 1 | name |
| 126738419 | CV1021307 | single nucleotide variant | NM_170675.5(MEIS2):c.167C>A (p.Pro56Gln) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001335516] | uncertain significance | 15 | 37098045 | 37098045 | Human | 1 | name |
| 153301016 | CV1688856 | single nucleotide variant | NM_170675.5(MEIS2):c.133C>G (p.Leu45Val) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002266584] | uncertain significance | 15 | 37098079 | 37098079 | Human | 1 | name |
| 153346356 | CV1691674 | single nucleotide variant | NM_170675.5(MEIS2):c.236C>G (p.Ala79Gly) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002273157] | uncertain significance | 15 | 37097976 | 37097976 | Human | 1 | name |
| 156091663 | CV1984115 | single nucleotide variant | NM_170675.5(MEIS2):c.202G>T (p.Ala68Ser) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002621880] | benign | 15 | 37098010 | 37098010 | Human | 1 | name |
| 156133974 | CV2235485 | single nucleotide variant | NM_170675.5(MEIS2):c.220A>C (p.Lys74Gln) | Inborn genetic diseases [RCV002763113] | uncertain significance | 15 | 37097992 | 37097992 | Human | 1 | name |
| 329954611 | CV2670551 | single nucleotide variant | NM_170675.5(MEIS2):c.187G>A (p.Ala63Thr) | not provided [RCV003235818] | uncertain significance | 15 | 37098025 | 37098025 | Human | | name |
| 401723595 | CV2737854 | single nucleotide variant | NM_170675.5(MEIS2):c.242A>T (p.Tyr81Phe) | not provided [RCV003315026] | uncertain significance | 15 | 37097970 | 37097970 | Human | | name |
| 401934281 | CV2817398 | single nucleotide variant | NM_170675.5(MEIS2):c.103C>T (p.Pro35Ser) | not provided [RCV003411144] | uncertain significance | 15 | 37098109 | 37098109 | Human | | name |
| 405139148 | CV3125520 | single nucleotide variant | NM_170675.5(MEIS2):c.1065A>G (p.Gln355=) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003816627] | likely benign | 15 | 36895233 | 36895233 | Human | 1 | name |
| 407502661 | CV3449833 | single nucleotide variant | NM_170675.5(MEIS2):c.111C>A (p.His37Gln) | Inborn genetic diseases [RCV004645220] | uncertain significance | 15 | 37098101 | 37098101 | Human | 1 | name |
| 596921584 | CV3535206 | single nucleotide variant | NM_170675.5(MEIS2):c.138C>A (p.His46Gln) | not provided [RCV004784765] | uncertain significance | 15 | 37098074 | 37098074 | Human | | name |
| 597657265 | CV3731660 | single nucleotide variant | NM_170675.5(MEIS2):c.272T>C (p.Leu91Pro) | not provided [RCV005001841] | uncertain significance | 15 | 37096404 | 37096404 | Human | | name |
| 13786180 | CV550369 | duplication | NM_170675.5(MEIS2):c.825dup (p.Arg276fs) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV000677393] | pathogenic | 15 | 37036888 | 37036889 | Human | 1 | name |
| 14724297 | CV643112 | single nucleotide variant | NM_170675.5(MEIS2):c.142A>G (p.Thr48Ala) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV000814723] | uncertain significance | 15 | 37098070 | 37098070 | Human | 1 | name |
| 28878973 | CV860153 | deletion | NM_170675.5(MEIS2):c.716del (p.Gly239fs) | not provided [RCV001090729] | likely pathogenic | 15 | 37083809 | 37083809 | Human | | name |
| 126738423 | CV1021306 | single nucleotide variant | NM_170675.5(MEIS2):c.877G>C (p.Ala293Pro) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001335517] | likely pathogenic | 15 | 37036837 | 37036837 | Human | 1 | name |
| 126915403 | CV1048899 | single nucleotide variant | NM_170675.5(MEIS2):c.733G>A (p.Gly245Arg) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001370896] | uncertain significance | 15 | 37083792 | 37083792 | Human | 1 | name |
| 127293680 | CV1157433 | single nucleotide variant | NM_170675.5(MEIS2):c.580G>A (p.Gly194Ser) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001511421] | benign | 15 | 37093640 | 37093640 | Human | 1 | name |
| 150429482 | CV1189230 | single nucleotide variant | NM_170675.5(MEIS2):c.992G>A (p.Arg331Lys) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001563674] | pathogenic | 15 | 36896672 | 36896672 | Human | 1 | name |
| 150470214 | CV1209278 | single nucleotide variant | NM_170675.5(MEIS2):c.655C>T (p.Arg219Ter) | not provided [RCV001588389] | pathogenic | 15 | 37083870 | 37083870 | Human | | name |
| 151350820 | CV1324844 | deletion | NM_170675.5(MEIS2):c.1042del (p.Leu348fs) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001809289] | uncertain significance | 15 | 36895256 | 36895256 | Human | 1 | name |
| 151350663 | CV1325626 | single nucleotide variant | NM_170675.5(MEIS2):c.968T>G (p.Val323Gly) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001814913] | likely pathogenic | 15 | 36950333 | 36950333 | Human | 1 | name |
| 151755774 | CV1334781 | single nucleotide variant | NM_170675.5(MEIS2):c.751C>T (p.Gln251Ter) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001843737] | pathogenic | 15 | 37083774 | 37083774 | Human | 1 | name |
| 151713371 | CV1404718 | single nucleotide variant | NM_170675.5(MEIS2):c.607C>A (p.Leu203Ile) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002011168] | uncertain significance | 15 | 37093613 | 37093613 | Human | 1 | name |
| 151816960 | CV1507095 | single nucleotide variant | NM_170675.5(MEIS2):c.505G>A (p.Asp169Asn) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001955153] | uncertain significance | 15 | 37093715 | 37093715 | Human | 1 | name |
| 153001564 | CV1679466 | single nucleotide variant | NM_170675.5(MEIS2):c.903T>A (p.His301Gln) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002250855] | uncertain significance | 15 | 36950398 | 36950398 | Human | 1 | name |
| 153002422 | CV1685541 | single nucleotide variant | NM_170675.5(MEIS2):c.916G>A (p.Glu306Lys) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003101438]|not provided [RCV002259528] | pathogenic|likely pathogenic | 15 | 36950385 | 36950385 | Human | 1 | name |
| 153348593 | CV1692631 | single nucleotide variant | NM_170675.5(MEIS2):c.973A>G (p.Asn325Asp) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002274486] | likely pathogenic | 15 | 36950328 | 36950328 | Human | 1 | name |
| 155266980 | CV1704909 | single nucleotide variant | NM_170675.5(MEIS2):c.907T>A (p.Tyr303Asn) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002285208] | likely pathogenic | 15 | 36950394 | 36950394 | Human | 1 | name |
| 155643778 | CV1708081 | single nucleotide variant | NM_170675.5(MEIS2):c.999A>C (p.Arg333Ser) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002290069] | likely pathogenic | 15 | 36896665 | 36896665 | Human | 1 | name |
| 155715229 | CV1780377 | single nucleotide variant | NM_170675.5(MEIS2):c.574A>G (p.Arg192Gly) | not provided [RCV002305981] | uncertain significance | 15 | 37093646 | 37093646 | Human | | name |
| 155798238 | CV1861914 | single nucleotide variant | NM_170675.5(MEIS2):c.986A>G (p.Asn329Ser) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002471317] | likely pathogenic | 15 | 36896678 | 36896678 | Human | 1 | name |
| 155798424 | CV1861996 | deletion | NM_170675.5(MEIS2):c.1114del (p.Asp372fs) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002471399] | uncertain significance | 15 | 36895184 | 36895184 | Human | 1 | name |
| 155946014 | CV1935629 | single nucleotide variant | NM_170675.5(MEIS2):c.772A>G (p.Ser258Gly) | not provided [RCV002511377] | uncertain significance | 15 | 37036942 | 37036942 | Human | | name |
| 156383853 | CV2220226 | duplication | NM_170675.5(MEIS2):c.1271dup (p.Met425fs) | Inborn genetic diseases [RCV002723094] | uncertain significance | 15 | 36892335 | 36892336 | Human | 1 | name |
| 156334167 | CV2267067 | single nucleotide variant | NM_170675.5(MEIS2):c.809C>T (p.Pro270Leu) | Inborn genetic diseases [RCV002835549] | uncertain significance | 15 | 37036905 | 37036905 | Human | 1 | name |
| 155986931 | CV2275381 | single nucleotide variant | NM_170675.5(MEIS2):c.742A>G (p.Ser248Gly) | Inborn genetic diseases [RCV002864160] | uncertain significance | 15 | 37083783 | 37083783 | Human | 1 | name |
| 155921414 | CV2276301 | single nucleotide variant | NM_170675.5(MEIS2):c.760G>T (p.Gly254Cys) | Inborn genetic diseases [RCV002859718] | uncertain significance | 15 | 37036954 | 37036954 | Human | 1 | name |
| 155992838 | CV2281252 | single nucleotide variant | NM_170675.5(MEIS2):c.460C>A (p.Leu154Ile) | Inborn genetic diseases [RCV002882584]|not provided [RCV003324868] | uncertain significance | 15 | 37094556 | 37094556 | Human | 1 | name |
| 243054552 | CV2410301 | single nucleotide variant | NM_170675.5(MEIS2):c.610T>G (p.Ser204Ala) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003131586] | uncertain significance | 15 | 37093610 | 37093610 | Human | 1 | name |
| 401764367 | CV2708870 | single nucleotide variant | NM_170675.5(MEIS2):c.307C>A (p.Pro103Thr) | Inborn genetic diseases [RCV003281823] | uncertain significance | 15 | 37096369 | 37096369 | Human | 1 | name |
| 401796533 | CV2740698 | single nucleotide variant | NM_170675.5(MEIS2):c.994A>G (p.Arg332Gly) | not provided [RCV003321368] | likely pathogenic | 15 | 36896670 | 36896670 | Human | | name |
| 401917124 | CV2829675 | single nucleotide variant | NM_170675.5(MEIS2):c.716G>C (p.Gly239Ala) | not provided [RCV003443719] | uncertain significance | 15 | 37083809 | 37083809 | Human | | name |
| 401913210 | CV2830259 | single nucleotide variant | NM_170675.5(MEIS2):c.991A>G (p.Arg331Gly) | not provided [RCV003441474] | pathogenic | 15 | 36896673 | 36896673 | Human | | name |
| 405039627 | CV2910277 | single nucleotide variant | NM_170675.5(MEIS2):c.904C>A (p.Pro302Thr) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003591530] | uncertain significance | 15 | 36950397 | 36950397 | Human | 1 | name |
| 405262402 | CV3189271 | single nucleotide variant | NM_170675.5(MEIS2):c.412T>C (p.Ser138Pro) | MEIS2-related disorder [RCV004539263] | uncertain significance | 15 | 37095590 | 37095590 | Human | | name , trait |
| 407426682 | CV3411482 | single nucleotide variant | NM_170675.5(MEIS2):c.367A>T (p.Ile123Phe) | not provided [RCV004590660] | uncertain significance | 15 | 37096309 | 37096309 | Human | | name |
| 408387001 | CV3518648 | single nucleotide variant | NM_170675.5(MEIS2):c.446A>G (p.Gln149Arg) | not provided [RCV004760967] | uncertain significance | 15 | 37094570 | 37094570 | Human | | name |
| 408393119 | CV3519709 | single nucleotide variant | NM_170675.5(MEIS2):c.334G>A (p.Asp112Asn) | not provided [RCV004764005] | uncertain significance | 15 | 37096342 | 37096342 | Human | | name |
| 408388602 | CV3520828 | single nucleotide variant | NM_170675.5(MEIS2):c.446A>C (p.Gln149Pro) | not provided [RCV004761661] | uncertain significance | 15 | 37094570 | 37094570 | Human | | name |
| 408388772 | CV3529095 | single nucleotide variant | NM_170675.5(MEIS2):c.635A>G (p.Asp212Gly) | not provided [RCV004773917] | uncertain significance | 15 | 37093585 | 37093585 | Human | | name |
| 596924703 | CV3532364 | single nucleotide variant | NM_170675.5(MEIS2):c.434A>G (p.Asn145Ser) | not provided [RCV004777475] | uncertain significance | 15 | 37095568 | 37095568 | Human | | name |
| 596921823 | CV3535449 | single nucleotide variant | NM_170675.5(MEIS2):c.454C>T (p.Gln152Ter) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV004785004] | pathogenic | 15 | 37094562 | 37094562 | Human | 1 | name |
| 596922500 | CV3537257 | single nucleotide variant | NM_170675.5(MEIS2):c.707C>G (p.Ser236Cys) | not provided [RCV004787227] | uncertain significance | 15 | 37083818 | 37083818 | Human | | name |
| 596945021 | CV3543678 | single nucleotide variant | NM_170675.5(MEIS2):c.308C>T (p.Pro103Leu) | not provided [RCV004801800] | uncertain significance | 15 | 37096368 | 37096368 | Human | | name |
| 597708997 | CV3732869 | single nucleotide variant | NM_170675.5(MEIS2):c.654G>A (p.Trp218Ter) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV005051227] | pathogenic | 15 | 37083871 | 37083871 | Human | 1 | name |
| 597715476 | CV3733192 | single nucleotide variant | NM_170675.5(MEIS2):c.889C>T (p.Gln297Ter) | not provided [RCV005052381] | pathogenic | 15 | 37036825 | 37036825 | Human | | name |
| 597952748 | CV3798826 | single nucleotide variant | NM_170675.5(MEIS2):c.445C>G (p.Gln149Glu) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV005136400] | uncertain significance | 15 | 37094571 | 37094571 | Human | 1 | name |
| 597963577 | CV3819660 | single nucleotide variant | NM_170675.5(MEIS2):c.704C>T (p.Pro235Leu) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV005164376] | benign | 15 | 37083821 | 37083821 | Human | 1 | name |
| 597965871 | CV3845038 | single nucleotide variant | NM_170675.5(MEIS2):c.719A>G (p.His240Arg) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV005194366] | benign | 15 | 37083806 | 37083806 | Human | 1 | name |
| 598218555 | CV3891679 | single nucleotide variant | NM_170675.5(MEIS2):c.908A>G (p.Tyr303Cys) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV005252522] | likely pathogenic | 15 | 36950393 | 36950393 | Human | 1 | name |
| 598241494 | CV3985788 | single nucleotide variant | NM_170675.5(MEIS2):c.562G>T (p.Val188Phe) | Inborn genetic diseases [RCV005364823] | uncertain significance | 15 | 37093658 | 37093658 | Human | 1 | name |
| 598201024 | CV4007546 | single nucleotide variant | NM_170675.5(MEIS2):c.773G>A (p.Ser258Asn) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV005398378] | uncertain significance | 15 | 37036941 | 37036941 | Human | 1 | name |
| 12895627 | CV409211 | single nucleotide variant | NM_170675.5(MEIS2):c.965A>T (p.Gln322Leu) | not provided [RCV000487166] | likely pathogenic | 15 | 36950336 | 36950336 | Human | | name |
| 12894458 | CV409212 | single nucleotide variant | NM_170675.5(MEIS2):c.905C>T (p.Pro302Leu) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002221236]|not provided [RCV000482887] | pathogenic|likely pathogenic | 15 | 36950396 | 36950396 | Human | 1 | name |
| 12907479 | CV415884 | single nucleotide variant | NM_170675.5(MEIS2):c.611C>G (p.Ser204Ter) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV000490249] | pathogenic | 15 | 37093609 | 37093609 | Human | 1 | name |
| 12913818 | CV422009 | single nucleotide variant | NM_170675.5(MEIS2):c.987T>A (p.Asn329Lys) | not provided [RCV000494298] | likely pathogenic | 15 | 36896677 | 36896677 | Human | | name |
| 13509843 | CV482063 | single nucleotide variant | NM_170675.5(MEIS2):c.520C>T (p.Arg174Ter) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV004001218]|Inborn genetic diseases [RCV003159975]|not provided [RCV001696962] | pathogenic|uncertain significance | 15 | 37093700 | 37093700 | Human | 2 | name |
| 14396096 | CV611792 | single nucleotide variant | NM_170675.5(MEIS2):c.424G>T (p.Glu142Ter) | not provided [RCV000760827] | pathogenic | 15 | 37095578 | 37095578 | Human | | name |
| 8635409 | CV90630 | single nucleotide variant | NM_002399.3(MEIS2):c.811C>T (p.Pro271Ser) | Malignant melanoma [RCV000070728] | not provided | 15 | 37036864 | 37036864 | Human | | name |
| 38596642 | CV963787 | single nucleotide variant | NM_170675.5(MEIS2):c.964C>G (p.Gln322Glu) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001252071] | likely pathogenic | 15 | 36950337 | 36950337 | Human | 1 | name |
| 151811931 | CV1480872 | single nucleotide variant | NM_170675.5(MEIS2):c.1031G>A (p.Arg344Gln) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001943992] | uncertain significance | 15 | 36896633 | 36896633 | Human | 1 | name |
| 152979640 | CV1675683 | single nucleotide variant | NM_170675.5(MEIS2):c.1025C>G (p.Ser342Ter) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV002244273] | likely pathogenic | 15 | 36896639 | 36896639 | Human | 1 | name |
| 156055556 | CV1935119 | single nucleotide variant | NM_170675.5(MEIS2):c.1061G>A (p.Ser354Asn) | not specified [RCV002510407] | uncertain significance | 15 | 36895237 | 36895237 | Human | | name |
| 156272799 | CV2283687 | single nucleotide variant | NM_170675.5(MEIS2):c.1416G>A (p.Met472Ile) | Inborn genetic diseases [RCV002832415] | likely benign | 15 | 36892191 | 36892191 | Human | 1 | name |
| 156017099 | CV2295492 | single nucleotide variant | NM_170675.5(MEIS2):c.1365G>C (p.Gln455His) | Inborn genetic diseases [RCV002884646] | uncertain significance | 15 | 36892242 | 36892242 | Human | 1 | name |
| 156170232 | CV2296763 | single nucleotide variant | NM_170675.5(MEIS2):c.1166G>C (p.Gly389Ala) | Inborn genetic diseases [RCV002891359] | likely benign | 15 | 36892441 | 36892441 | Human | 1 | name |
| 156293605 | CV2306346 | single nucleotide variant | NM_170675.5(MEIS2):c.1324G>A (p.Gly442Arg) | Inborn genetic diseases [RCV002897357] | uncertain significance | 15 | 36892283 | 36892283 | Human | 1 | name |
| 156226537 | CV2401188 | single nucleotide variant | NM_170675.5(MEIS2):c.1427C>T (p.Ala476Val) | Inborn genetic diseases [RCV002805082] | uncertain significance | 15 | 36892180 | 36892180 | Human | 1 | name |
| 329393105 | CV2449499 | single nucleotide variant | NM_170675.5(MEIS2):c.1157G>A (p.Ser386Asn) | Inborn genetic diseases [RCV003193002] | uncertain significance | 15 | 36892450 | 36892450 | Human | 1 | name |
| 401934279 | CV2817396 | single nucleotide variant | NM_170675.5(MEIS2):c.1341C>A (p.His447Gln) | not provided [RCV003411142] | uncertain significance | 15 | 36892266 | 36892266 | Human | | name |
| 401934280 | CV2817397 | single nucleotide variant | NM_170675.5(MEIS2):c.1262A>G (p.His421Arg) | MEIS2-related disorder [RCV004536801]|not provided [RCV003411143] | benign|likely benign | 15 | 36892345 | 36892345 | Human | 1 | name , trait |
| 405693513 | CV3281965 | single nucleotide variant | NM_170675.5(MEIS2):c.1170C>G (p.Asp390Glu) | Inborn genetic diseases [RCV004424117] | uncertain significance | 15 | 36892437 | 36892437 | Human | 1 | name |
| 405693518 | CV3281966 | single nucleotide variant | NM_170675.5(MEIS2):c.1273A>G (p.Met425Val) | Inborn genetic diseases [RCV004424118] | uncertain significance | 15 | 36892334 | 36892334 | Human | 1 | name |
| 405693531 | CV3281968 | single nucleotide variant | NM_170675.5(MEIS2):c.1415T>C (p.Met472Thr) | Inborn genetic diseases [RCV004424120] | uncertain significance | 15 | 36892192 | 36892192 | Human | 1 | name |
| 405869529 | CV3396726 | single nucleotide variant | NM_170675.5(MEIS2):c.1030C>T (p.Arg344Ter) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV004566600] | likely pathogenic | 15 | 36896634 | 36896634 | Human | 1 | name |
| 407518085 | CV3449832 | single nucleotide variant | NM_170675.5(MEIS2):c.1309G>A (p.Ala437Thr) | Inborn genetic diseases [RCV004628749] | uncertain significance | 15 | 36892298 | 36892298 | Human | 1 | name |
| 408379755 | CV3505968 | single nucleotide variant | NM_170675.5(MEIS2):c.1226C>T (p.Pro409Leu) | MEIS2-related disorder [RCV004728646] | uncertain significance | 15 | 36892381 | 36892381 | Human | | name , trait |
| 597681925 | CV3556576 | single nucleotide variant | NM_170675.5(MEIS2):c.1312A>G (p.Met438Val) | Inborn genetic diseases [RCV004952046] | likely benign | 15 | 36892295 | 36892295 | Human | 1 | name |
| 597699976 | CV3556578 | single nucleotide variant | NM_170675.5(MEIS2):c.1247C>G (p.Pro416Arg) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV005256992]|Inborn genetic diseases [RCV004956421] | uncertain significance | 15 | 36892360 | 36892360 | Human | 2 | name |
| 597833099 | CV3734875 | single nucleotide variant | NM_170675.5(MEIS2):c.1093C>T (p.Pro365Ser) | not provided [RCV005054608] | uncertain significance | 15 | 36895205 | 36895205 | Human | | name |
| 598241483 | CV3985785 | single nucleotide variant | NM_170675.5(MEIS2):c.1181A>G (p.Gln394Arg) | Inborn genetic diseases [RCV005364821] | uncertain significance | 15 | 36892426 | 36892426 | Human | 1 | name |
| 26919632 | CV842238 | single nucleotide variant | NM_170675.5(MEIS2):c.1129A>C (p.Met377Leu) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV001059164] | uncertain significance | 15 | 36895169 | 36895169 | Human | 1 | name |
| 11060105 | CV226843 | microsatellite | NM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV000210625]|Cleft palate [RCV004798814]|Inborn genetic diseases [RCV001267141]|MEIS2-related disorder [RCV000509419]|not provided [RCV000494204] | pathogenic|likely pathogenic|uncertain significance|not provided | 15 | 36896664 | 36896666 | Human | | name , trait |
| 155907597 | CV2302246 | microsatellite | NM_170675.5(MEIS2):c.644CTT[2] (p.Ser217del) | Inborn genetic diseases [RCV002902044] | uncertain significance | 15 | 37083873 | 37083875 | Human | | name |
| 243051466 | CV2415911 | deletion | NM_170675.5(MEIS2):c.777_781del (p.Ala260fs) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003148529] | likely pathogenic | 15 | 37036933 | 37036937 | Human | 1 | name |
| 21072633 | CV791440 | deletion | NM_170675.5(MEIS2):c.934_937del (p.Leu312fs) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV000989283]|Inborn genetic diseases [RCV001265871]|not provided [RCV005054285] | pathogenic|likely pathogenic | 15 | 36950364 | 36950367 | Human | 2 | name |
| 329848333 | CV2667978 | indel | NM_170675.5(MEIS2):c.122_126delinsTGA (p.His41fs) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003229520] | pathogenic | 15 | 37098086 | 37098090 | Human | | name |
| 401944587 | CV2831793 | deletion | NM_170675.5(MEIS2):c.525del (p.Arg174_Tyr175insTer) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV003445439] | likely pathogenic | 15 | 37093695 | 37093695 | Human | 1 | name |
| 596944344 | CV3543160 | deletion | NM_170675.5(MEIS2):c.1010_1012del (p.Pro337_Met338delinsLeu) | Cleft palate [RCV004799032] | likely pathogenic | 15 | 36896652 | 36896654 | Human | 2 | name |
| 13820590 | CV573216 | inversion | NM_170675.5(MEIS2):c.576_578inv (p.Arg192_Asp193delinsSerLeu) | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [RCV000687546]|not provided [RCV003222101] | uncertain significance | 15 | 37093642 | 37093644 | Human | | name |