| 127298160 | CV1154793 | single nucleotide variant | NM_002448.3(MSX1):c.*6C>T | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001513161]|not provided [RCV001724325] | benign | 4 | 4863149 | 4863149 | Human | 1 | name |
| 405278074 | CV3216385 | single nucleotide variant | NM_002448.3(MSX1):c.-7G>T | MSX1-related disorder [RCV004544132] | likely benign | 4 | 4859893 | 4859893 | Human | | name , trait , alternate_id |
| 407428033 | CV3412311 | single nucleotide variant | NM_002448.3(MSX1):c.-2G>A | not provided [RCV004593479] | uncertain significance | 4 | 4859898 | 4859898 | Human | | name |
| 150438645 | CV1221190 | single nucleotide variant | NM_002448.3(MSX1):c.-18G>A | not provided [RCV001609884] | benign | 4 | 4859882 | 4859882 | Human | | name |
| 13621020 | CV520201 | single nucleotide variant | NM_002448.3(MSX1):c.*276A>G | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000636825]|not provided [RCV001539465] | benign | 4 | 4863419 | 4863419 | Human | 1 | name |
| 150451975 | CV1275040 | single nucleotide variant | NM_002448.3(MSX1):c.469+5G>C | not provided [RCV001703286] | likely pathogenic | 4 | 4860373 | 4860373 | Human | | name |
| 405049279 | CV2894668 | single nucleotide variant | NM_002448.3(MSX1):c.470-9G>A | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003518746] | uncertain significance | 4 | 4862692 | 4862692 | Human | 1 | name |
| 407427363 | CV3411869 | single nucleotide variant | NM_002448.3(MSX1):c.469+5G>A | not provided [RCV004592040] | pathogenic | 4 | 4860373 | 4860373 | Human | | name |
| 150440259 | CV1233360 | single nucleotide variant | NM_002448.3(MSX1):c.470-47A>G | not provided [RCV001645048] | benign | 4 | 4862654 | 4862654 | Human | | name |
| 150501607 | CV1224228 | single nucleotide variant | NM_002448.3(MSX1):c.470-198A>G | not provided [RCV001620869] | benign | 4 | 4862503 | 4862503 | Human | | name |
| 150516926 | CV1227365 | single nucleotide variant | NM_002448.3(MSX1):c.469+219G>A | not provided [RCV001639466] | benign | 4 | 4860587 | 4860587 | Human | | name |
| 150481331 | CV1238484 | single nucleotide variant | NM_002448.3(MSX1):c.470-127C>A | not provided [RCV001652925] | benign | 4 | 4862574 | 4862574 | Human | | name |
| 150499169 | CV1270776 | single nucleotide variant | NM_002448.3(MSX1):c.470-129G>A | not provided [RCV001689326] | benign | 4 | 4862572 | 4862572 | Human | | name |
| 150436523 | CV1270972 | single nucleotide variant | NM_002448.3(MSX1):c.470-152A>G | not provided [RCV001689522] | benign | 4 | 4862549 | 4862549 | Human | | name |
| 150454967 | CV1277102 | single nucleotide variant | NM_002448.3(MSX1):c.469+232A>T | not provided [RCV001708894] | benign | 4 | 4860600 | 4860600 | Human | | name |
| 405870223 | CV3401420 | deletion | NM_002448.3(MSX1):c.466_469+1del | Tooth agenesis, selective, 1 [RCV004577940] | pathogenic | 4 | 4860364 | 4860368 | Human | 1 | name |
| 127290606 | CV1154792 | microsatellite | NM_002448.3(MSX1):c.469+46_469+56del | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001509904]|not provided [RCV001655737] | benign | 4 | 4860399 | 4860409 | Human | | name |
| 127311015 | CV1135764 | single nucleotide variant | NM_002448.3(MSX1):c.108C>A (p.Ala36=) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001481314] | likely benign | 4 | 4860007 | 4860007 | Human | 1 | name |
| 127325041 | CV1135765 | single nucleotide variant | NM_002448.3(MSX1):c.195G>A (p.Ala65=) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001505869] | likely benign | 4 | 4860094 | 4860094 | Human | 1 | name |
| 127319956 | CV1154790 | single nucleotide variant | NM_002448.3(MSX1):c.297G>C (p.Pro99=) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001522391] | benign | 4 | 4860196 | 4860196 | Human | 1 | name |
| 8564507 | CV29926 | duplication | NM_002448.3(MSX1):c.81dup (p.Gly28fs) | Tooth agenesis, selective, 1 [RCV000016016] | pathogenic | 4 | 4859979 | 4859980 | Human | 1 | name |
| 13485011 | CV453198 | single nucleotide variant | NM_002448.3(MSX1):c.123C>A (p.Ala41=) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001450153] | likely benign | 4 | 4860022 | 4860022 | Human | 1 | name |
| 15193158 | CV764480 | single nucleotide variant | NM_002448.3(MSX1):c.243G>A (p.Ala81=) | not provided [RCV000933288] | likely benign | 4 | 4860142 | 4860142 | Human | | name |
| 127328792 | CV1135766 | single nucleotide variant | NM_002448.3(MSX1):c.526C>A (p.Arg176=) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001486971] | likely benign | 4 | 4862757 | 4862757 | Human | 1 | name |
| 127297254 | CV1154791 | single nucleotide variant | NM_002448.3(MSX1):c.348C>T (p.Gly116=) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001512803]|not provided [RCV001692402] | benign | 4 | 4860247 | 4860247 | Human | 1 | name |
| 152065986 | CV1620110 | single nucleotide variant | NM_002448.3(MSX1):c.77G>C (p.Gly26Ala) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV002209349] | likely benign | 4 | 4859976 | 4859976 | Human | 1 | name |
| 153000712 | CV1684274 | single nucleotide variant | NM_002448.3(MSX1):c.94G>T (p.Ala32Ser) | not provided [RCV002255229] | uncertain significance | 4 | 4859993 | 4859993 | Human | | name |
| 401729066 | CV2730003 | single nucleotide variant | NM_002448.3(MSX1):c.94G>A (p.Ala32Thr) | Inborn genetic diseases [RCV003288805] | uncertain significance | 4 | 4859993 | 4859993 | Human | 1 | name |
| 401862324 | CV2775224 | single nucleotide variant | NM_002448.3(MSX1):c.58G>A (p.Ala20Thr) | Inborn genetic diseases [RCV003343146] | uncertain significance | 4 | 4859957 | 4859957 | Human | 1 | name |
| 405047305 | CV2892867 | single nucleotide variant | NM_002448.3(MSX1):c.426G>A (p.Arg142=) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003518557] | likely benign | 4 | 4860325 | 4860325 | Human | 1 | name |
| 405032869 | CV2909325 | single nucleotide variant | NM_002448.3(MSX1):c.519T>C (p.Arg173=) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003516965]|MSX1-related disorder [RCV004540722] | likely benign | 4 | 4862750 | 4862750 | Human | 1 | name , trait , alternate_id |
| 402525394 | CV3123699 | single nucleotide variant | NM_002448.3(MSX1):c.624G>C (p.Ser208=) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003825125] | likely benign | 4 | 4862855 | 4862855 | Human | 1 | name |
| 402471524 | CV3171582 | single nucleotide variant | NM_002448.3(MSX1):c.912G>A (p.Ter304=) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003874366] | likely benign | 4 | 4863143 | 4863143 | Human | 1 | name |
| 405287109 | CV3205616 | single nucleotide variant | NM_002448.3(MSX1):c.546G>A (p.Ala182=) | MSX1-related disorder [RCV004545583] | likely benign | 4 | 4862777 | 4862777 | Human | | name , trait , alternate_id |
| 407475797 | CV3447327 | single nucleotide variant | NM_002448.3(MSX1):c.38G>T (p.Gly13Val) | Inborn genetic diseases [RCV004638435] | uncertain significance | 4 | 4859937 | 4859937 | Human | 1 | name |
| 408369325 | CV3509401 | single nucleotide variant | NM_002448.3(MSX1):c.543C>T (p.Thr181=) | MSX1-related disorder [RCV004736832] | likely benign | 4 | 4862774 | 4862774 | Human | | name , trait , alternate_id |
| 597663704 | CV3564239 | single nucleotide variant | NM_002448.3(MSX1):c.74C>A (p.Ala25Glu) | Inborn genetic diseases [RCV004947179] | uncertain significance | 4 | 4859973 | 4859973 | Human | 1 | name |
| 597836040 | CV3764473 | single nucleotide variant | NM_002448.3(MSX1):c.390G>T (p.Ala130=) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV005107273] | likely benign | 4 | 4860289 | 4860289 | Human | 1 | name |
| 597914640 | CV3852975 | single nucleotide variant | NM_002448.3(MSX1):c.354C>T (p.Phe118=) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV005189856] | likely benign | 4 | 4860253 | 4860253 | Human | 1 | name |
| 598214573 | CV3989807 | single nucleotide variant | NM_002448.3(MSX1):c.77G>T (p.Gly26Val) | Inborn genetic diseases [RCV005378597] | uncertain significance | 4 | 4859976 | 4859976 | Human | 1 | name |
| 13496404 | CV453457 | single nucleotide variant | NM_002448.3(MSX1):c.86C>T (p.Ala29Val) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000537833]|not provided [RCV001618724] | benign | 4 | 4859985 | 4859985 | Human | 1 | name |
| 13465822 | CV453459 | single nucleotide variant | NM_002448.3(MSX1):c.324G>T (p.Ala108=) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV002527748] | likely benign | 4 | 4860223 | 4860223 | Human | 1 | name |
| 13494340 | CV453560 | single nucleotide variant | NM_002448.3(MSX1):c.561G>A (p.Leu187=) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000536344]|MSX1-related disorder [RCV004537942]|not provided [RCV004716527] | benign|likely benign | 4 | 4862792 | 4862792 | Human | 1 | name , trait , alternate_id |
| 13479074 | CV453935 | single nucleotide variant | NM_002448.3(MSX1):c.89G>C (p.Gly30Ala) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000550347] | uncertain significance | 4 | 4859988 | 4859988 | Human | 1 | name |
| 13807057 | CV559850 | single nucleotide variant | NM_002448.3(MSX1):c.95C>T (p.Ala32Val) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000686500] | likely benign|uncertain significance | 4 | 4859994 | 4859994 | Human | 1 | name |
| 15110941 | CV691570 | single nucleotide variant | NM_002448.3(MSX1):c.624G>T (p.Ser208=) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003629144] | likely benign | 4 | 4862855 | 4862855 | Human | 1 | name |
| 15183122 | CV698533 | single nucleotide variant | NM_002448.3(MSX1):c.65G>A (p.Gly22Asp) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000952390]|MSX1-related disorder [RCV004738102] | likely benign | 4 | 4859964 | 4859964 | Human | 1 | name , trait , alternate_id |
| 15180330 | CV698534 | single nucleotide variant | NM_002448.3(MSX1):c.609G>C (p.Ala203=) | not provided [RCV000951722] | likely benign | 4 | 4862840 | 4862840 | Human | | name |
| 38461332 | CV918896 | single nucleotide variant | NM_002448.3(MSX1):c.89G>A (p.Gly30Asp) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001197533] | likely benign | 4 | 4859988 | 4859988 | Human | 1 | name |
| 151823774 | CV1349392 | single nucleotide variant | NM_002448.3(MSX1):c.280C>T (p.Gln94Ter) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001934405] | pathogenic | 4 | 4860179 | 4860179 | Human | 1 | name |
| 151792611 | CV1399432 | duplication | NM_002448.3(MSX1):c.683dup (p.Arg229fs) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001898322] | pathogenic | 4 | 4862911 | 4862912 | Human | 1 | name |
| 153303135 | CV1685736 | single nucleotide variant | NM_002448.3(MSX1):c.289G>A (p.Gly97Ser) | MSX1-related selective tooth agenesis with or without orofacial cleft [RCV002260570] | uncertain significance | 4 | 4860188 | 4860188 | Human | | name , trait |
| 156390211 | CV1872597 | single nucleotide variant | NM_002448.3(MSX1):c.100A>G (p.Ser34Gly) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003051232] | uncertain significance | 4 | 4859999 | 4859999 | Human | 1 | name |
| 156205296 | CV2073975 | duplication | NM_002448.3(MSX1):c.487dup (p.Ala163fs) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV002829092] | pathogenic | 4 | 4862717 | 4862718 | Human | 1 | name |
| 156451065 | CV2192759 | single nucleotide variant | NM_002448.3(MSX1):c.250G>T (p.Glu84Ter) | MSX1-related disorder [RCV003123243] | likely pathogenic | 4 | 4860149 | 4860149 | Human | | name , trait , alternate_id |
| 155977553 | CV2246867 | single nucleotide variant | NM_002448.3(MSX1):c.287T>C (p.Leu96Pro) | Inborn genetic diseases [RCV002777410] | uncertain significance | 4 | 4860186 | 4860186 | Human | 1 | name |
| 156047887 | CV2304378 | single nucleotide variant | NM_002448.3(MSX1):c.130G>A (p.Gly44Ser) | Inborn genetic diseases [RCV002911026] | uncertain significance | 4 | 4860029 | 4860029 | Human | 1 | name |
| 156063250 | CV2349557 | single nucleotide variant | NM_002448.3(MSX1):c.196C>A (p.Leu66Ile) | Inborn genetic diseases [RCV003000311] | uncertain significance | 4 | 4860095 | 4860095 | Human | 1 | name |
| 401729063 | CV2730001 | single nucleotide variant | NM_002448.3(MSX1):c.103G>A (p.Ala35Thr) | Inborn genetic diseases [RCV003288804] | uncertain significance | 4 | 4860002 | 4860002 | Human | 1 | name |
| 401767912 | CV2730002 | single nucleotide variant | NM_002448.3(MSX1):c.106G>A (p.Ala36Thr) | Inborn genetic diseases [RCV003302380] | likely benign | 4 | 4860005 | 4860005 | Human | 1 | name |
| 401937974 | CV2797314 | single nucleotide variant | NM_002448.3(MSX1):c.245C>T (p.Pro82Leu) | MSX1-related disorder [RCV004531679] | uncertain significance | 4 | 4860144 | 4860144 | Human | | name , trait , alternate_id |
| 8600001 | CV29922 | single nucleotide variant | NM_002448.3(MSX1):c.251A>T (p.Glu84Val) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001851883]|Orofacial cleft 5 [RCV000016012] | pathogenic|uncertain significance | 4 | 4860150 | 4860150 | Human | 2 | name |
| 8600004 | CV29925 | single nucleotide variant | NM_002448.3(MSX1):c.200T>A (p.Met67Lys) | Tooth agenesis, selective, 1 [RCV000016015] | pathogenic | 4 | 4860099 | 4860099 | Human | 1 | name |
| 402507313 | CV3044001 | single nucleotide variant | NM_002448.3(MSX1):c.260A>G (p.Gln87Arg) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003628945] | benign | 4 | 4860159 | 4860159 | Human | 1 | name |
| 405779972 | CV3372503 | single nucleotide variant | NM_002448.3(MSX1):c.223G>C (p.Ala75Pro) | Inborn genetic diseases [RCV004503772] | uncertain significance | 4 | 4860122 | 4860122 | Human | 1 | name |
| 407507043 | CV3447326 | single nucleotide variant | NM_002448.3(MSX1):c.194C>A (p.Ala65Glu) | Inborn genetic diseases [RCV004646659] | uncertain significance | 4 | 4860093 | 4860093 | Human | 1 | name |
| 597890185 | CV3830583 | duplication | NM_002448.3(MSX1):c.365dup (p.Leu123fs) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV005164723] | pathogenic | 4 | 4860258 | 4860259 | Human | 1 | name |
| 598214579 | CV3989809 | single nucleotide variant | NM_002448.3(MSX1):c.110C>T (p.Ala37Val) | Inborn genetic diseases [RCV005378598] | uncertain significance | 4 | 4860009 | 4860009 | Human | 1 | name |
| 13481772 | CV453940 | single nucleotide variant | NM_002448.3(MSX1):c.127A>C (p.Met43Leu) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000987403] | benign | 4 | 4860026 | 4860026 | Human | 1 | name |
| 14705682 | CV632230 | single nucleotide variant | NM_002448.3(MSX1):c.102C>G (p.Ser34Arg) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000801655] | uncertain significance | 4 | 4860001 | 4860001 | Human | 1 | name |
| 15111854 | CV691569 | single nucleotide variant | NM_002448.3(MSX1):c.218C>T (p.Pro73Leu) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000872407]|Orofacial cleft 5 [RCV002478981] | benign|likely benign | 4 | 4860117 | 4860117 | Human | 2 | name |
| 15146471 | CV781960 | single nucleotide variant | NM_002448.3(MSX1):c.151A>G (p.Lys51Glu) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000983862]|MSX1-related disorder [RCV004543665] | benign | 4 | 4860050 | 4860050 | Human | 1 | name , trait , alternate_id |
| 21071288 | CV790475 | single nucleotide variant | NM_002448.3(MSX1):c.119C>G (p.Ala40Gly) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000987402]|not provided [RCV001664589] | benign | 4 | 4860018 | 4860018 | Human | 1 | name |
| 126770549 | CV1005300 | single nucleotide variant | NM_002448.3(MSX1):c.623C>G (p.Ser208Trp) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001322640]|MSX1-related disorder [RCV004531112] | uncertain significance | 4 | 4862854 | 4862854 | Human | 1 | name , trait , alternate_id |
| 126749122 | CV1005301 | single nucleotide variant | NM_002448.3(MSX1):c.670C>T (p.Arg224Cys) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001326470] | uncertain significance | 4 | 4862901 | 4862901 | Human | 1 | name |
| 126750591 | CV1025883 | single nucleotide variant | NM_002448.3(MSX1):c.796G>A (p.Ala266Thr) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001338072] | uncertain significance | 4 | 4863027 | 4863027 | Human | 1 | name |
| 150520719 | CV1289871 | single nucleotide variant | NM_002448.3(MSX1):c.605G>A (p.Arg202His) | not provided [RCV001730243] | pathogenic|likely pathogenic | 4 | 4862836 | 4862836 | Human | | name |
| 151817986 | CV1390473 | single nucleotide variant | NM_002448.3(MSX1):c.544G>A (p.Ala182Thr) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001954469]|not provided [RCV005232719] | uncertain significance | 4 | 4862775 | 4862775 | Human | 1 | name |
| 151797381 | CV1424337 | single nucleotide variant | NM_002448.3(MSX1):c.850C>T (p.Pro284Ser) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV002047668] | uncertain significance | 4 | 4863081 | 4863081 | Human | 1 | name |
| 151769800 | CV1482897 | single nucleotide variant | NM_002448.3(MSX1):c.782C>G (p.Ala261Gly) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001914874]|not provided [RCV004693854] | uncertain significance | 4 | 4863013 | 4863013 | Human | 1 | name |
| 152041705 | CV1669904 | single nucleotide variant | NM_002448.3(MSX1):c.421G>A (p.Glu141Lys) | not provided [RCV002224806] | uncertain significance | 4 | 4860320 | 4860320 | Human | | name |
| 156038452 | CV1890824 | single nucleotide variant | NM_002448.3(MSX1):c.438G>A (p.Met146Ile) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003078414] | uncertain significance | 4 | 4860337 | 4860337 | Human | 1 | name |
| 156449948 | CV1938457 | single nucleotide variant | NM_002448.3(MSX1):c.545C>T (p.Ala182Val) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003122080] | uncertain significance | 4 | 4862776 | 4862776 | Human | 1 | name |
| 156246627 | CV2029422 | single nucleotide variant | NM_002448.3(MSX1):c.527G>A (p.Arg176Gln) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV002745849] | uncertain significance | 4 | 4862758 | 4862758 | Human | 1 | name |
| 156306319 | CV2129793 | single nucleotide variant | NM_002448.3(MSX1):c.557C>T (p.Ala186Val) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV002962382] | uncertain significance | 4 | 4862788 | 4862788 | Human | 1 | name |
| 155935733 | CV2138823 | single nucleotide variant | NM_002448.3(MSX1):c.655T>C (p.Trp219Arg) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV002993706]|Tooth agenesis, selective, 1 [RCV004794601]|not provided [RCV003332395] | likely pathogenic|uncertain significance | 4 | 4862886 | 4862886 | Human | 2 | name |
| 155983865 | CV2163295 | single nucleotide variant | NM_002448.3(MSX1):c.629G>A (p.Ser210Asn) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003034006] | likely benign | 4 | 4862860 | 4862860 | Human | 1 | name |
| 155920374 | CV2210792 | single nucleotide variant | NM_002448.3(MSX1):c.361G>T (p.Gly121Trp) | Inborn genetic diseases [RCV002682771] | uncertain significance | 4 | 4860260 | 4860260 | Human | 1 | name |
| 156182586 | CV2243083 | single nucleotide variant | NM_002448.3(MSX1):c.866G>A (p.Gly289Glu) | Inborn genetic diseases [RCV002802370] | uncertain significance | 4 | 4863097 | 4863097 | Human | 1 | name |
| 12907396 | CV227271 | single nucleotide variant | NM_002448.3(MSX1):c.471G>T (p.Arg157Ser) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000950563]|MSX1-related disorder [RCV004541305]|Orofacial cleft 5 [RCV000490415] | benign|likely benign|uncertain significance | 4 | 4862702 | 4862702 | Human | 3 | name , trait , alternate_id |
| 155906943 | CV2279575 | single nucleotide variant | NM_002448.3(MSX1):c.386A>T (p.Asp129Val) | Inborn genetic diseases [RCV002837370] | uncertain significance | 4 | 4860285 | 4860285 | Human | 1 | name |
| 329369029 | CV2424656 | single nucleotide variant | NM_002448.3(MSX1):c.322G>A (p.Ala108Thr) | Inborn genetic diseases [RCV003183739] | uncertain significance | 4 | 4860221 | 4860221 | Human | 1 | name |
| 329396979 | CV2463729 | single nucleotide variant | NM_002448.3(MSX1):c.488C>G (p.Ala163Gly) | Inborn genetic diseases [RCV003195274] | uncertain significance | 4 | 4862719 | 4862719 | Human | 1 | name |
| 329375323 | CV2468508 | single nucleotide variant | NM_002448.3(MSX1):c.431C>G (p.Pro144Arg) | Inborn genetic diseases [RCV003211116] | uncertain significance | 4 | 4860330 | 4860330 | Human | 1 | name |
| 401757361 | CV2692955 | single nucleotide variant | NM_002448.3(MSX1):c.796G>T (p.Ala266Ser) | Inborn genetic diseases [RCV003256015] | uncertain significance | 4 | 4863027 | 4863027 | Human | 1 | name |
| 401798150 | CV2739230 | single nucleotide variant | NM_002448.3(MSX1):c.682A>G (p.Lys228Glu) | not provided [RCV003318878] | uncertain significance | 4 | 4862913 | 4862913 | Human | | name |
| 401895866 | CV2769097 | single nucleotide variant | NM_002448.3(MSX1):c.743C>G (p.Pro248Arg) | Inborn genetic diseases [RCV003373467] | uncertain significance | 4 | 4862974 | 4862974 | Human | 1 | name |
| 401913158 | CV2803416 | single nucleotide variant | NM_002448.3(MSX1):c.650A>G (p.Lys217Arg) | MSX1-related disorder [RCV004531549] | uncertain significance | 4 | 4862881 | 4862881 | Human | | name , trait , alternate_id |
| 401916598 | CV2831195 | single nucleotide variant | NM_002448.3(MSX1):c.787G>C (p.Val263Leu) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003778487]|not provided [RCV003443464] | uncertain significance | 4 | 4863018 | 4863018 | Human | 1 | name |
| 401905745 | CV2831502 | single nucleotide variant | NM_002448.3(MSX1):c.641C>T (p.Thr214Met) | Tooth agenesis, selective, 1 [RCV003444494] | uncertain significance | 4 | 4862872 | 4862872 | Human | 1 | name |
| 8599997 | CV29918 | single nucleotide variant | NM_002448.3(MSX1):c.605G>C (p.Arg202Pro) | Tooth agenesis, selective, 1 [RCV000016008] | pathogenic | 4 | 4862836 | 4862836 | Human | 1 | name |
| 8599998 | CV29919 | single nucleotide variant | NM_002448.3(MSX1):c.332C>A (p.Ser111Ter) | Tooth agenesis, selective, 1 [RCV000016009] | pathogenic | 4 | 4860231 | 4860231 | Human | 1 | name |
| 8599999 | CV29920 | single nucleotide variant | NM_002448.3(MSX1):c.577C>T (p.Gln193Ter) | Tooth agenesis, selective, 1 [RCV000016010] | pathogenic | 4 | 4862808 | 4862808 | Human | 1 | name |
| 8600000 | CV29921 | single nucleotide variant | NM_002448.3(MSX1):c.623C>A (p.Ser208Ter) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000016011]|MSX1-related disorder [RCV004532364] | pathogenic | 4 | 4862854 | 4862854 | Human | 1 | name , trait , alternate_id |
| 8600002 | CV29923 | single nucleotide variant | NM_002448.3(MSX1):c.365G>A (p.Gly122Glu) | Orofacial cleft 5 [RCV000016013] | pathogenic | 4 | 4860264 | 4860264 | Human | 1 | name |
| 8600003 | CV29924 | single nucleotide variant | NM_002448.3(MSX1):c.458C>A (p.Pro153Gln) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001448310]|Orofacial cleft 5 [RCV000016014]|not provided [RCV001528695] | pathogenic|likely benign|uncertain significance | 4 | 4860357 | 4860357 | Human | 2 | name |
| 405046381 | CV3008231 | single nucleotide variant | NM_002448.3(MSX1):c.461C>T (p.Pro154Leu) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003630807] | uncertain significance | 4 | 4860360 | 4860360 | Human | 1 | name |
| 402473617 | CV3172232 | single nucleotide variant | NM_002448.3(MSX1):c.371T>A (p.Leu124His) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003874835] | uncertain significance | 4 | 4860270 | 4860270 | Human | 1 | name |
| 405288962 | CV3193919 | single nucleotide variant | NM_002448.3(MSX1):c.547C>T (p.Gln183Ter) | MSX1-related disorder [RCV004542694] | likely pathogenic | 4 | 4862778 | 4862778 | Human | | name , trait , alternate_id |
| 405689996 | CV3227324 | single nucleotide variant | NM_002448.3(MSX1):c.697G>C (p.Ala233Pro) | Tooth agenesis, selective, 1 [RCV003991668] | uncertain significance | 4 | 4862928 | 4862928 | Human | 1 | name |
| 405780080 | CV3372521 | single nucleotide variant | NM_002448.3(MSX1):c.485C>G (p.Pro162Arg) | Inborn genetic diseases [RCV004503790] | uncertain significance | 4 | 4862716 | 4862716 | Human | 1 | name |
| 405780104 | CV3372525 | single nucleotide variant | NM_002448.3(MSX1):c.500G>A (p.Arg167His) | Inborn genetic diseases [RCV004503794] | uncertain significance | 4 | 4862731 | 4862731 | Human | 1 | name |
| 405780124 | CV3372528 | single nucleotide variant | NM_002448.3(MSX1):c.769C>G (p.Leu257Val) | Inborn genetic diseases [RCV004503797] | uncertain significance | 4 | 4863000 | 4863000 | Human | 1 | name |
| 405780152 | CV3372532 | single nucleotide variant | NM_002448.3(MSX1):c.853G>A (p.Val285Met) | Inborn genetic diseases [RCV004503801] | uncertain significance | 4 | 4863084 | 4863084 | Human | 1 | name |
| 405870220 | CV3401419 | single nucleotide variant | NM_002448.3(MSX1):c.739C>T (p.Pro247Ser) | Tooth agenesis, selective, 1 [RCV004577939] | pathogenic | 4 | 4862970 | 4862970 | Human | 1 | name |
| 407507041 | CV3447325 | single nucleotide variant | NM_002448.3(MSX1):c.808T>A (p.Ser270Thr) | Inborn genetic diseases [RCV004646658] | uncertain significance | 4 | 4863039 | 4863039 | Human | 1 | name |
| 407507045 | CV3447328 | single nucleotide variant | NM_002448.3(MSX1):c.565C>A (p.Arg189Ser) | Inborn genetic diseases [RCV004646660] | uncertain significance | 4 | 4862796 | 4862796 | Human | 1 | name |
| 407507046 | CV3447329 | single nucleotide variant | NM_002448.3(MSX1):c.518G>A (p.Arg173His) | Inborn genetic diseases [RCV004646661] | uncertain significance | 4 | 4862749 | 4862749 | Human | 1 | name |
| 597663711 | CV3564240 | single nucleotide variant | NM_002448.3(MSX1):c.767C>G (p.Pro256Arg) | Inborn genetic diseases [RCV004947180] | uncertain significance | 4 | 4862998 | 4862998 | Human | 1 | name |
| 597663716 | CV3564241 | single nucleotide variant | NM_002448.3(MSX1):c.316C>G (p.Pro106Ala) | Inborn genetic diseases [RCV004947181] | uncertain significance | 4 | 4860215 | 4860215 | Human | 1 | name |
| 597663723 | CV3564242 | single nucleotide variant | NM_002448.3(MSX1):c.317C>G (p.Pro106Arg) | Inborn genetic diseases [RCV004947182] | uncertain significance | 4 | 4860216 | 4860216 | Human | 1 | name |
| 597849445 | CV3780602 | single nucleotide variant | NM_002448.3(MSX1):c.473G>C (p.Arg158Pro) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV005124730] | uncertain significance | 4 | 4862704 | 4862704 | Human | 1 | name |
| 597918887 | CV3837867 | single nucleotide variant | NM_002448.3(MSX1):c.472C>T (p.Arg158Trp) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV005193851] | uncertain significance | 4 | 4862703 | 4862703 | Human | 1 | name |
| 597912055 | CV3852745 | single nucleotide variant | NM_002448.3(MSX1):c.797C>A (p.Ala266Glu) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV005187144] | uncertain significance | 4 | 4863028 | 4863028 | Human | 1 | name |
| 598180523 | CV3989808 | single nucleotide variant | NM_002448.3(MSX1):c.569A>G (p.Lys190Arg) | Inborn genetic diseases [RCV005372132] | uncertain significance | 4 | 4862800 | 4862800 | Human | 1 | name |
| 598180528 | CV3989810 | single nucleotide variant | NM_002448.3(MSX1):c.775G>T (p.Gly259Cys) | Inborn genetic diseases [RCV005372133] | uncertain significance | 4 | 4863006 | 4863006 | Human | 1 | name |
| 598214585 | CV3989811 | single nucleotide variant | NM_002448.3(MSX1):c.441G>C (p.Gln147His) | Inborn genetic diseases [RCV005378599] | uncertain significance | 4 | 4860340 | 4860340 | Human | 1 | name |
| 598214588 | CV3989812 | single nucleotide variant | NM_002448.3(MSX1):c.814T>C (p.Tyr272His) | Inborn genetic diseases [RCV005378600] | uncertain significance | 4 | 4863045 | 4863045 | Human | 1 | name |
| 13496347 | CV453202 | single nucleotide variant | NM_002448.3(MSX1):c.365G>T (p.Gly122Val) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000560292] | uncertain significance | 4 | 4860264 | 4860264 | Human | 1 | name |
| 13468561 | CV453942 | single nucleotide variant | NM_002448.3(MSX1):c.661C>T (p.Gln221Ter) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000544581] | pathogenic | 4 | 4862892 | 4862892 | Human | 1 | name |
| 13807391 | CV563721 | single nucleotide variant | NM_002448.3(MSX1):c.310G>C (p.Gly104Arg) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000701085] | uncertain significance | 4 | 4860209 | 4860209 | Human | 1 | name |
| 21069233 | CV679661 | single nucleotide variant | NM_002448.3(MSX1):c.817G>A (p.Gly273Ser) | Craniosynostosis syndrome [RCV000985272]|Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003629142] | uncertain significance | 4 | 4863048 | 4863048 | Human | 3 | name |
| 15113983 | CV691571 | single nucleotide variant | NM_002448.3(MSX1):c.778C>A (p.Pro260Thr) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001503619] | likely benign | 4 | 4863009 | 4863009 | Human | 1 | name |
| 15146748 | CV781961 | single nucleotide variant | NM_002448.3(MSX1):c.821C>T (p.Ala274Val) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000983935] | likely benign | 4 | 4863052 | 4863052 | Human | 1 | name |
| 38483167 | CV923522 | single nucleotide variant | NM_002448.3(MSX1):c.581A>G (p.Lys194Arg) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001218812] | uncertain significance | 4 | 4862812 | 4862812 | Human | 1 | name |
| 40814959 | CV970794 | single nucleotide variant | NM_002448.3(MSX1):c.599C>T (p.Ala200Val) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001262377] | uncertain significance | 4 | 4862830 | 4862830 | Human | 1 | name |
| 151834308 | CV1493492 | deletion | NM_002448.3(MSX1):c.741_750del (p.Pro248fs) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001935378] | uncertain significance | 4 | 4862966 | 4862975 | Human | 1 | name |
| 597844346 | CV3776791 | deletion | NM_002448.3(MSX1):c.668_669del (p.Arg223fs) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV005119647] | pathogenic | 4 | 4862898 | 4862899 | Human | 1 | name |
| 597868296 | CV3801085 | deletion | NM_002448.3(MSX1):c.691_692del (p.Gln231fs) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV005143280] | pathogenic | 4 | 4862921 | 4862922 | Human | 1 | name |
| 26897049 | CV829191 | deletion | NM_002448.3(MSX1):c.655_659del (p.Trp219fs) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001048347] | pathogenic | 4 | 4862886 | 4862890 | Human | 1 | name |
| 26905299 | CV829192 | deletion | NM_002448.3(MSX1):c.682_683del (p.Lys228fs) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001036941]|Tooth agenesis, selective, 1 [RCV002222195] | uncertain significance | 4 | 4862912 | 4862913 | Human | 2 | name |
| 150555053 | CV1310196 | duplication | NM_002448.3(MSX1):c.519_525dup (p.Arg176Ter) | Orofacial cleft 5 [RCV001771824] | pathogenic | 4 | 4862746 | 4862747 | Human | 1 | name |
| 126909851 | CV1052991 | insertion | NM_002448.3(MSX1):c.576_577insTAG (p.Gln193Ter) | Oligodontia [RCV001374733] | pathogenic | 4 | 4862807 | 4862808 | Human | 2 | name |
| 13491788 | CV453944 | indel | NM_002448.3(MSX1):c.752_753delinsAA (p.Phe251Ter) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000556981] | uncertain significance | 4 | 4862983 | 4862984 | Human | | name |
| 9831478 | CV132730 | duplication | NM_002448.3(MSX1):c.910_911dup (p.Ter304TyrextTer?) | Tooth agenesis, selective, 1 [RCV000157079] | pathogenic | 4 | 4863139 | 4863140 | Human | 1 | name |
