| 156092006 | CV2384845 | single nucleotide variant | NM_001079520.2(DACT1):c.635-6T>C | not specified [RCV004225727] | uncertain significance | 14 | 58645363 | 58645363 | Human | | name |
| 15168791 | CV730944 | single nucleotide variant | NM_001079520.2(DACT1):c.478+9T>G | DACT1-related disorder [RCV003930588]|not provided [RCV000883139] | benign|likely benign | 14 | 58640877 | 58640877 | Human | 1 | name , trait , alternate_id |
| 156160284 | CV2262655 | single nucleotide variant | NM_001079520.2(DACT1):c.635-54C>A | not specified [RCV004130851] | uncertain significance | 14 | 58645315 | 58645315 | Human | | name |
| 156194174 | CV2351937 | single nucleotide variant | NM_001079520.2(DACT1):c.635-45G>A | not specified [RCV004198073] | uncertain significance | 14 | 58645324 | 58645324 | Human | | name |
| 401769413 | CV2735014 | single nucleotide variant | NM_001079520.2(DACT1):c.635-27A>G | not specified [RCV004333714] | uncertain significance | 14 | 58645342 | 58645342 | Human | | name |
| 598251064 | CV3952768 | single nucleotide variant | NM_001079520.2(DACT1):c.635-58G>A | not specified [RCV005322986] | uncertain significance | 14 | 58645311 | 58645311 | Human | | name |
| 598251102 | CV3952775 | single nucleotide variant | NM_001079520.2(DACT1):c.635-26A>T | not specified [RCV005322993] | uncertain significance | 14 | 58645343 | 58645343 | Human | | name |
| 597674112 | CV3655123 | single nucleotide variant | NM_001079520.2(DACT1):c.635-106A>G | not specified [RCV004913582] | uncertain significance | 14 | 58645263 | 58645263 | Human | | name |
| 15115323 | CV787887 | single nucleotide variant | NM_001079520.2(DACT1):c.635-121T>C | not provided [RCV000978380] | likely benign | 14 | 58645248 | 58645248 | Human | | name |
| 150512326 | CV1245379 | single nucleotide variant | NM_001079520.2(DACT1):c.268C>T (p.Leu90=) | Townes-Brocks syndrome 2 [RCV001661352]|not provided [RCV004715533] | benign | 14 | 58638470 | 58638470 | Human | 1 | name |
| 401923442 | CV2803287 | single nucleotide variant | NM_001079520.2(DACT1):c.25G>C (p.Ala9Pro) | DACT1-related disorder [RCV003404433] | uncertain significance | 14 | 58638227 | 58638227 | Human | | name , trait , alternate_id |
| 405679183 | CV3236639 | single nucleotide variant | NM_001079520.2(DACT1):c.19G>C (p.Gly7Arg) | not specified [RCV004370790] | uncertain significance | 14 | 58638221 | 58638221 | Human | | name |
| 407456336 | CV3415863 | single nucleotide variant | NM_001079520.2(DACT1):c.288C>T (p.Arg96=) | not provided [RCV004598740] | likely benign | 14 | 58638490 | 58638490 | Human | | name |
| 15176418 | CV725712 | single nucleotide variant | NM_001079520.2(DACT1):c.156G>A (p.Leu52=) | not provided [RCV000884578] | likely benign | 14 | 58638358 | 58638358 | Human | | name |
| 15109157 | CV725713 | single nucleotide variant | NM_001079520.2(DACT1):c.237G>C (p.Ala79=) | not provided [RCV000893812] | benign | 14 | 58638439 | 58638439 | Human | | name |
| 15196602 | CV754088 | single nucleotide variant | NM_001079520.2(DACT1):c.147G>A (p.Glu49=) | not provided [RCV000911742] | likely benign | 14 | 58638349 | 58638349 | Human | | name |
| 405267351 | CV3205603 | single nucleotide variant | NM_001079520.2(DACT1):c.621C>T (p.Cys207=) | DACT1-related disorder [RCV003947389] | likely benign | 14 | 58641734 | 58641734 | Human | | name , trait , alternate_id |
| 407452873 | CV3420367 | single nucleotide variant | NM_001079520.2(DACT1):c.79C>T (p.Pro27Ser) | not specified [RCV004608716] | uncertain significance | 14 | 58638281 | 58638281 | Human | | name |
| 596946052 | CV3548191 | single nucleotide variant | NM_001079520.2(DACT1):c.477A>C (p.Ser159=) | not provided [RCV004809522] | likely benign | 14 | 58640867 | 58640867 | Human | | name |
| 616938778 | CV4015833 | single nucleotide variant | NM_001079520.2(DACT1):c.763C>T (p.Leu255=) | Townes-Brocks syndrome 2 [RCV005414385] | likely pathogenic | 14 | 58645497 | 58645497 | Human | 1 | name |
| 15159793 | CV725716 | single nucleotide variant | NM_001079520.2(DACT1):c.582C>T (p.Cys194=) | not provided [RCV000881260] | likely benign | 14 | 58641695 | 58641695 | Human | | name |
| 15139752 | CV739252 | single nucleotide variant | NM_001079520.2(DACT1):c.306G>A (p.Lys102=) | not provided [RCV000899200] | likely benign | 14 | 58638508 | 58638508 | Human | | name |
| 15165323 | CV739254 | single nucleotide variant | NM_001079520.2(DACT1):c.846C>A (p.Ser282=) | not provided [RCV000904195] | benign | 14 | 58645580 | 58645580 | Human | | name |
| 15138304 | CV754089 | single nucleotide variant | NM_001079520.2(DACT1):c.624C>G (p.Pro208=) | not provided [RCV000921309] | likely benign | 14 | 58641737 | 58641737 | Human | | name |
| 156059196 | CV2396555 | single nucleotide variant | NM_001079520.2(DACT1):c.124C>A (p.Gln42Lys) | not specified [RCV004242258] | uncertain significance | 14 | 58638326 | 58638326 | Human | | name |
| 329361304 | CV2436873 | single nucleotide variant | NM_001079520.2(DACT1):c.253C>G (p.Arg85Gly) | not specified [RCV004260261] | uncertain significance | 14 | 58638455 | 58638455 | Human | | name |
| 401902036 | CV2810446 | single nucleotide variant | NM_001079520.2(DACT1):c.1194G>T (p.Leu398=) | not provided [RCV003393449] | likely benign | 14 | 58645928 | 58645928 | Human | | name |
| 405258198 | CV3208250 | single nucleotide variant | NM_001079520.2(DACT1):c.1008C>T (p.Asn336=) | DACT1-related disorder [RCV003941684] | likely benign | 14 | 58645742 | 58645742 | Human | | name , trait , alternate_id |
| 405261423 | CV3210013 | single nucleotide variant | NM_001079520.2(DACT1):c.1017T>C (p.Val339=) | DACT1-related disorder [RCV003944530] | likely benign | 14 | 58645751 | 58645751 | Human | | name , trait , alternate_id |
| 405279160 | CV3217393 | single nucleotide variant | NM_001079520.2(DACT1):c.1977C>T (p.Arg659=) | DACT1-related disorder [RCV003976818] | likely benign | 14 | 58646711 | 58646711 | Human | | name , trait , alternate_id |
| 405287288 | CV3217730 | single nucleotide variant | NM_001079520.2(DACT1):c.1023C>T (p.Val341=) | DACT1-related disorder [RCV003981853] | benign | 14 | 58645757 | 58645757 | Human | | name , trait , alternate_id |
| 405679172 | CV3236637 | single nucleotide variant | NM_001079520.2(DACT1):c.184C>T (p.Arg62Cys) | not specified [RCV004370788] | uncertain significance | 14 | 58638386 | 58638386 | Human | | name |
| 408384724 | CV3504347 | single nucleotide variant | NM_001079520.2(DACT1):c.253C>A (p.Arg85Ser) | DACT1-related disorder [RCV004731930] | uncertain significance | 14 | 58638455 | 58638455 | Human | | name , trait , alternate_id |
| 596946647 | CV3548475 | single nucleotide variant | NM_001079520.2(DACT1):c.1848G>A (p.Ala616=) | not provided [RCV004810302] | likely benign | 14 | 58646582 | 58646582 | Human | | name |
| 597674073 | CV3655118 | single nucleotide variant | NM_001079520.2(DACT1):c.293G>T (p.Arg98Leu) | not specified [RCV004913578] | uncertain significance | 14 | 58638495 | 58638495 | Human | | name |
| 598251081 | CV3952771 | single nucleotide variant | NM_001079520.2(DACT1):c.190C>T (p.Arg64Cys) | not specified [RCV005322989] | uncertain significance | 14 | 58638392 | 58638392 | Human | | name |
| 15108972 | CV714174 | single nucleotide variant | NM_001079520.2(DACT1):c.1500C>G (p.Ala500=) | not provided [RCV000960596] | benign | 14 | 58646234 | 58646234 | Human | | name |
| 15108978 | CV714175 | single nucleotide variant | NM_001079520.2(DACT1):c.1896T>G (p.Pro632=) | not provided [RCV000960597] | benign | 14 | 58646630 | 58646630 | Human | | name |
| 15198101 | CV725714 | single nucleotide variant | NM_001079520.2(DACT1):c.251C>T (p.Pro84Leu) | not provided [RCV000890256]|not specified [RCV005318551] | likely benign|uncertain significance | 14 | 58638453 | 58638453 | Human | | name |
| 15196250 | CV725715 | single nucleotide variant | NM_001079520.2(DACT1):c.260G>T (p.Gly87Val) | DACT1-related disorder [RCV003910553]|not provided [RCV000889726] | benign|likely benign | 14 | 58638462 | 58638462 | Human | 1 | name , trait , alternate_id |
| 15160491 | CV725717 | single nucleotide variant | NM_001079520.2(DACT1):c.2121C>T (p.Asp707=) | DACT1-related disorder [RCV003955832]|not provided [RCV000881393] | benign|likely benign | 14 | 58646855 | 58646855 | Human | 1 | name , trait , alternate_id |
| 15124983 | CV739259 | single nucleotide variant | NM_001079520.2(DACT1):c.2148C>T (p.Cys716=) | not provided [RCV000896682] | benign | 14 | 58646882 | 58646882 | Human | | name |
| 15119255 | CV739260 | single nucleotide variant | NM_001079520.2(DACT1):c.2244C>T (p.Ser748=) | DACT1-related disorder [RCV003950456]|not provided [RCV000895691] | likely benign | 14 | 58646978 | 58646978 | Human | 1 | name , trait , alternate_id |
| 15146979 | CV754091 | single nucleotide variant | NM_001079520.2(DACT1):c.1224C>T (p.Ser408=) | DACT1-related disorder [RCV003903016]|not provided [RCV000922813] | benign|likely benign | 14 | 58645958 | 58645958 | Human | 1 | name , trait , alternate_id |
| 15198387 | CV754092 | single nucleotide variant | NM_001079520.2(DACT1):c.1404C>G (p.Pro468=) | DACT1-related disorder [RCV003950760]|not provided [RCV000912244] | benign|likely benign | 14 | 58646138 | 58646138 | Human | 1 | name , trait , alternate_id |
| 15196824 | CV754093 | single nucleotide variant | NM_001079520.2(DACT1):c.1497T>C (p.Pro499=) | not provided [RCV000911805] | likely benign | 14 | 58646231 | 58646231 | Human | | name |
| 15203190 | CV754094 | single nucleotide variant | NM_001079520.2(DACT1):c.1554C>T (p.Val518=) | not provided [RCV000913773] | likely benign | 14 | 58646288 | 58646288 | Human | | name |
| 15168111 | CV754095 | single nucleotide variant | NM_001079520.2(DACT1):c.1662C>G (p.Leu554=) | not provided [RCV000927225] | likely benign | 14 | 58646396 | 58646396 | Human | | name |
| 15100702 | CV754096 | single nucleotide variant | NM_001079520.2(DACT1):c.1770C>A (p.Ala590=) | not provided [RCV000914652] | likely benign | 14 | 58646504 | 58646504 | Human | | name |
| 15131305 | CV784737 | single nucleotide variant | NM_001079520.2(DACT1):c.1224C>G (p.Ser408=) | not provided [RCV000981190] | likely benign | 14 | 58645958 | 58645958 | Human | | name |
| 155987763 | CV2251153 | single nucleotide variant | NM_001079520.2(DACT1):c.631G>T (p.Ala211Ser) | not specified [RCV004115387] | uncertain significance | 14 | 58641744 | 58641744 | Human | | name |
| 156068098 | CV2289461 | single nucleotide variant | NM_001079520.2(DACT1):c.703C>T (p.Pro235Ser) | not specified [RCV004152405] | uncertain significance | 14 | 58645437 | 58645437 | Human | | name |
| 156048084 | CV2336417 | single nucleotide variant | NM_001079520.2(DACT1):c.829G>T (p.Val277Phe) | not specified [RCV004194633] | uncertain significance | 14 | 58645563 | 58645563 | Human | | name |
| 156248630 | CV2357155 | single nucleotide variant | NM_001079520.2(DACT1):c.817G>A (p.Glu273Lys) | DACT1-related disorder [RCV003928925]|Townes syndrome [RCV005356333]|not provided [RCV004598253]|not specified [RCV004206945] | benign|likely benign|uncertain significance | 14 | 58645551 | 58645551 | Human | 2 | name , trait , alternate_id |
| 329356311 | CV2430685 | single nucleotide variant | NM_001079520.2(DACT1):c.809G>A (p.Gly270Asp) | not specified [RCV004253874] | uncertain significance | 14 | 58645543 | 58645543 | Human | | name |
| 401757297 | CV2675217 | single nucleotide variant | NM_001079520.2(DACT1):c.851C>T (p.Pro284Leu) | not specified [RCV004289988] | uncertain significance | 14 | 58645585 | 58645585 | Human | | name |
| 401740420 | CV2679634 | single nucleotide variant | NM_001079520.2(DACT1):c.760C>G (p.Pro254Ala) | not specified [RCV004282109] | uncertain significance | 14 | 58645494 | 58645494 | Human | | name |
| 401872059 | CV2754253 | single nucleotide variant | NM_001079520.2(DACT1):c.752C>T (p.Thr251Met) | not specified [RCV004334439] | uncertain significance | 14 | 58645486 | 58645486 | Human | | name |
| 401936416 | CV2803468 | single nucleotide variant | NM_001079520.2(DACT1):c.883C>G (p.Pro295Ala) | DACT1-related disorder [RCV003414424] | uncertain significance | 14 | 58645617 | 58645617 | Human | | name , trait , alternate_id |
| 405679142 | CV3236631 | single nucleotide variant | NM_001079520.2(DACT1):c.936A>C (p.Lys312Asn) | Townes syndrome [RCV005363322]|not specified [RCV004370782] | likely benign|uncertain significance | 14 | 58645670 | 58645670 | Human | 1 | name |
| 405679214 | CV3236645 | single nucleotide variant | NM_001079520.2(DACT1):c.758A>G (p.Asn253Ser) | not specified [RCV004370796] | uncertain significance | 14 | 58645492 | 58645492 | Human | | name |
| 407452867 | CV3420364 | single nucleotide variant | NM_001079520.2(DACT1):c.925G>A (p.Val309Ile) | not specified [RCV004608713] | uncertain significance | 14 | 58645659 | 58645659 | Human | | name |
| 407452871 | CV3420366 | single nucleotide variant | NM_001079520.2(DACT1):c.572C>T (p.Thr191Ile) | not specified [RCV004608715] | uncertain significance | 14 | 58641685 | 58641685 | Human | | name |
| 597674038 | CV3655114 | single nucleotide variant | NM_001079520.2(DACT1):c.760C>T (p.Pro254Ser) | not specified [RCV004913574] | uncertain significance | 14 | 58645494 | 58645494 | Human | | name |
| 597674084 | CV3655119 | single nucleotide variant | NM_001079520.2(DACT1):c.350G>C (p.Cys117Ser) | not specified [RCV004913579] | uncertain significance | 14 | 58640740 | 58640740 | Human | | name |
| 598251043 | CV3952765 | single nucleotide variant | NM_001079520.2(DACT1):c.985C>T (p.Pro329Ser) | not specified [RCV005322983] | uncertain significance | 14 | 58645719 | 58645719 | Human | | name |
| 598251077 | CV3952770 | single nucleotide variant | NM_001079520.2(DACT1):c.779G>A (p.Arg260Lys) | not specified [RCV005322988] | uncertain significance | 14 | 58645513 | 58645513 | Human | | name |
| 598251087 | CV3952772 | single nucleotide variant | NM_001079520.2(DACT1):c.799G>A (p.Asp267Asn) | not specified [RCV005322990] | uncertain significance | 14 | 58645533 | 58645533 | Human | | name |
| 15126039 | CV714172 | single nucleotide variant | NM_001079520.2(DACT1):c.930G>C (p.Gln310His) | Townes-Brocks syndrome 2 [RCV002503014]|not provided [RCV000963679] | likely benign | 14 | 58645664 | 58645664 | Human | 1 | name |
| 15135940 | CV739253 | single nucleotide variant | NM_001079520.2(DACT1):c.769G>A (p.Glu257Lys) | Townes-Brocks syndrome 2 [RCV002495438]|not provided [RCV000898548] | benign|likely benign | 14 | 58645503 | 58645503 | Human | 1 | name |
| 15102546 | CV754090 | single nucleotide variant | NM_001079520.2(DACT1):c.989C>A (p.Thr330Lys) | Townes-Brocks syndrome 2 [RCV003152612]|not provided [RCV000914985]|not specified [RCV004029380] | pathogenic|likely benign|uncertain significance | 14 | 58645723 | 58645723 | Human | 1 | name |
| 150512328 | CV1245380 | single nucleotide variant | NM_001079520.2(DACT1):c.1280C>T (p.Ala427Val) | Townes-Brocks syndrome 2 [RCV001661353]|not provided [RCV004716786] | benign | 14 | 58646014 | 58646014 | Human | 1 | name |
| 150437816 | CV1249934 | single nucleotide variant | NM_001079520.2(DACT1):c.1978G>A (p.Gly660Ser) | DACT1-related disorder [RCV003975855]|not provided [RCV001665848] | benign | 14 | 58646712 | 58646712 | Human | 1 | name , trait , alternate_id |
| 150508607 | CV1284324 | single nucleotide variant | NM_001079520.2(DACT1):c.1225G>A (p.Asp409Asn) | not provided [RCV001720432] | benign | 14 | 58645959 | 58645959 | Human | | name |
| 155643096 | CV1707683 | single nucleotide variant | NM_001079520.2(DACT1):c.2122G>A (p.Glu708Lys) | Townes-Brocks syndrome 2 [RCV002289144] | uncertain significance | 14 | 58646856 | 58646856 | Human | 1 | name |
| 156172456 | CV2194250 | single nucleotide variant | NM_001079520.2(DACT1):c.1616T>G (p.Met539Arg) | not specified [RCV004079371] | uncertain significance | 14 | 58646350 | 58646350 | Human | | name |
| 156382920 | CV2223696 | single nucleotide variant | NM_001079520.2(DACT1):c.1091C>T (p.Pro364Leu) | not specified [RCV004093800] | uncertain significance | 14 | 58645825 | 58645825 | Human | | name |
| 156066457 | CV2225543 | single nucleotide variant | NM_001079520.2(DACT1):c.1862A>G (p.His621Arg) | not specified [RCV004100925] | uncertain significance | 14 | 58646596 | 58646596 | Human | | name |
| 11040244 | CV223643 | single nucleotide variant | NM_001079520.2(DACT1):c.1899G>C (p.Lys633Asn) | Rieger anomaly [RCV000207386] | likely benign | 14 | 58646633 | 58646633 | Human | 2 | name |
| 155945212 | CV2237953 | single nucleotide variant | NM_001079520.2(DACT1):c.2140A>G (p.Thr714Ala) | not specified [RCV004110994] | uncertain significance | 14 | 58646874 | 58646874 | Human | | name |
| 156047020 | CV2244767 | single nucleotide variant | NM_001079520.2(DACT1):c.2143A>G (p.Asn715Asp) | not specified [RCV004102753] | uncertain significance | 14 | 58646877 | 58646877 | Human | | name |
| 155968077 | CV2261953 | single nucleotide variant | NM_001079520.2(DACT1):c.1952A>G (p.Glu651Gly) | not specified [RCV004126449] | uncertain significance | 14 | 58646686 | 58646686 | Human | | name |
| 156114656 | CV2268628 | single nucleotide variant | NM_001079520.2(DACT1):c.1282C>T (p.Arg428Trp) | not specified [RCV004124036] | uncertain significance | 14 | 58646016 | 58646016 | Human | | name |
| 155962869 | CV2285703 | single nucleotide variant | NM_001079520.2(DACT1):c.1610G>C (p.Arg537Thr) | not specified [RCV004141551] | uncertain significance | 14 | 58646344 | 58646344 | Human | | name |
| 156002437 | CV2288033 | single nucleotide variant | NM_001079520.2(DACT1):c.1012A>G (p.Ser338Gly) | not specified [RCV004147792] | uncertain significance | 14 | 58645746 | 58645746 | Human | | name |
| 156351140 | CV2316351 | single nucleotide variant | NM_001079520.2(DACT1):c.1683G>T (p.Leu561Phe) | not specified [RCV004174360] | uncertain significance | 14 | 58646417 | 58646417 | Human | | name |
| 156201221 | CV2338382 | single nucleotide variant | NM_001079520.2(DACT1):c.1735G>C (p.Asp579His) | not specified [RCV004186431] | uncertain significance | 14 | 58646469 | 58646469 | Human | | name |
| 155927809 | CV2349796 | single nucleotide variant | NM_001079520.2(DACT1):c.1015G>C (p.Val339Leu) | not specified [RCV004204207] | uncertain significance | 14 | 58645749 | 58645749 | Human | | name |
| 155954272 | CV2379179 | single nucleotide variant | NM_001079520.2(DACT1):c.2041G>A (p.Ala681Thr) | not specified [RCV004235968] | uncertain significance | 14 | 58646775 | 58646775 | Human | | name |
| 243050894 | CV2417701 | single nucleotide variant | NM_001079520.2(DACT1):c.1592G>A (p.Arg531Lys) | Townes-Brocks syndrome 2 [RCV003152572] | pathogenic | 14 | 58646326 | 58646326 | Human | 1 | name |
| 243050897 | CV2417702 | single nucleotide variant | NM_001079520.2(DACT1):c.1660C>T (p.Leu554Phe) | Townes-Brocks syndrome 2 [RCV003152573] | pathogenic | 14 | 58646394 | 58646394 | Human | 1 | name |
| 243050898 | CV2417703 | single nucleotide variant | NM_001079520.2(DACT1):c.2357T>G (p.Leu786Arg) | Townes-Brocks syndrome 2 [RCV003152574] | pathogenic | 14 | 58647091 | 58647091 | Human | 1 | name |
| 243057413 | CV2417704 | single nucleotide variant | NM_001079520.2(DACT1):c.1779G>T (p.Lys593Asn) | Townes-Brocks syndrome 2 [RCV003152575] | pathogenic | 14 | 58646513 | 58646513 | Human | 1 | name |
| 329372230 | CV2443067 | single nucleotide variant | NM_001079520.2(DACT1):c.1513A>T (p.Ser505Cys) | not specified [RCV004253654] | uncertain significance | 14 | 58646247 | 58646247 | Human | | name |
| 329380041 | CV2444161 | single nucleotide variant | NM_001079520.2(DACT1):c.2366G>A (p.Arg789Gln) | not specified [RCV004260896] | uncertain significance | 14 | 58647100 | 58647100 | Human | | name |
| 329391892 | CV2445113 | single nucleotide variant | NM_001079520.2(DACT1):c.1819G>T (p.Gly607Cys) | not specified [RCV004263761] | uncertain significance | 14 | 58646553 | 58646553 | Human | | name |
| 329359550 | CV2446319 | single nucleotide variant | NM_001079520.2(DACT1):c.2294A>C (p.His765Pro) | not specified [RCV004249451] | uncertain significance | 14 | 58647028 | 58647028 | Human | | name |
| 329386774 | CV2452509 | single nucleotide variant | NM_001079520.2(DACT1):c.2017C>T (p.Pro673Ser) | not specified [RCV004273107] | uncertain significance | 14 | 58646751 | 58646751 | Human | | name |
| 329379247 | CV2456170 | single nucleotide variant | NM_001079520.2(DACT1):c.2024C>T (p.Pro675Leu) | not specified [RCV004273362] | uncertain significance | 14 | 58646758 | 58646758 | Human | | name |
| 329377903 | CV2460817 | single nucleotide variant | NM_001079520.2(DACT1):c.1160A>C (p.Lys387Thr) | not specified [RCV004271135] | uncertain significance | 14 | 58645894 | 58645894 | Human | | name |
| 329380558 | CV2466686 | single nucleotide variant | NM_001079520.2(DACT1):c.1766A>C (p.Lys589Thr) | not specified [RCV004276192] | uncertain significance | 14 | 58646500 | 58646500 | Human | | name |
| 401769172 | CV2693476 | single nucleotide variant | NM_001079520.2(DACT1):c.1919G>A (p.Arg640Gln) | not specified [RCV004295422] | uncertain significance | 14 | 58646653 | 58646653 | Human | | name |
| 401755234 | CV2717701 | single nucleotide variant | NM_001079520.2(DACT1):c.1678G>A (p.Gly560Ser) | not specified [RCV004330343] | uncertain significance | 14 | 58646412 | 58646412 | Human | | name |
| 401778008 | CV2718422 | single nucleotide variant | NM_001079520.2(DACT1):c.2110A>T (p.Thr704Ser) | not specified [RCV004318242] | uncertain significance | 14 | 58646844 | 58646844 | Human | | name |
| 401779119 | CV2733137 | single nucleotide variant | NM_001079520.2(DACT1):c.1474G>A (p.Ala492Thr) | not specified [RCV004332067] | uncertain significance | 14 | 58646208 | 58646208 | Human | | name |
| 401877508 | CV2761158 | single nucleotide variant | NM_001079520.2(DACT1):c.1742T>G (p.Leu581Trp) | not specified [RCV004341043] | uncertain significance | 14 | 58646476 | 58646476 | Human | | name |
| 401854351 | CV2766866 | single nucleotide variant | NM_001079520.2(DACT1):c.1108T>C (p.Ser370Pro) | not specified [RCV004349616] | uncertain significance | 14 | 58645842 | 58645842 | Human | | name |
| 401868196 | CV2767167 | single nucleotide variant | NM_001079520.2(DACT1):c.1811G>C (p.Gly604Ala) | not specified [RCV004347563] | uncertain significance | 14 | 58646545 | 58646545 | Human | | name |
| 401869774 | CV2772516 | single nucleotide variant | NM_001079520.2(DACT1):c.1253C>T (p.Thr418Met) | not specified [RCV004355287] | uncertain significance | 14 | 58645987 | 58645987 | Human | | name |
| 401865433 | CV2778751 | single nucleotide variant | NM_001079520.2(DACT1):c.2084C>A (p.Ser695Tyr) | not specified [RCV004346660] | uncertain significance | 14 | 58646818 | 58646818 | Human | | name |
| 401884326 | CV2789650 | single nucleotide variant | NM_001079520.2(DACT1):c.1155A>C (p.Glu385Asp) | not specified [RCV004360248] | uncertain significance | 14 | 58645889 | 58645889 | Human | | name |
| 401876750 | CV2793245 | single nucleotide variant | NM_001079520.2(DACT1):c.1840C>T (p.His614Tyr) | not specified [RCV004362077] | uncertain significance | 14 | 58646574 | 58646574 | Human | | name |
| 401924207 | CV2801074 | single nucleotide variant | NM_001079520.2(DACT1):c.1277A>G (p.His426Arg) | DACT1-related disorder [RCV003404663] | uncertain significance | 14 | 58646011 | 58646011 | Human | | name , trait , alternate_id |
| 401902037 | CV2810447 | single nucleotide variant | NM_001079520.2(DACT1):c.2009C>T (p.Ala670Val) | not provided [RCV003393450] | uncertain significance | 14 | 58646743 | 58646743 | Human | | name |
| 405867496 | CV2842274 | single nucleotide variant | NM_001079520.2(DACT1):c.1637G>A (p.Ser546Asn) | EBV-positive nodal T- and NK-cell lymphoma [RCV004560223] | likely benign | 14 | 58646371 | 58646371 | Human | | name |
| 405275759 | CV3199410 | single nucleotide variant | NM_001079520.2(DACT1):c.1771T>G (p.Ser591Ala) | DACT1-related disorder [RCV003916819] | benign | 14 | 58646505 | 58646505 | Human | | name , trait , alternate_id |
| 405679152 | CV3236633 | single nucleotide variant | NM_001079520.2(DACT1):c.1601G>A (p.Arg534Gln) | not specified [RCV004370784] | uncertain significance | 14 | 58646335 | 58646335 | Human | | name |
| 405679158 | CV3236634 | single nucleotide variant | NM_001079520.2(DACT1):c.1717A>G (p.Lys573Glu) | not specified [RCV004370785] | uncertain significance | 14 | 58646451 | 58646451 | Human | | name |
| 405679166 | CV3236636 | single nucleotide variant | NM_001079520.2(DACT1):c.1732C>G (p.Pro578Ala) | not specified [RCV004370787] | uncertain significance | 14 | 58646466 | 58646466 | Human | | name |
| 405679177 | CV3236638 | single nucleotide variant | NM_001079520.2(DACT1):c.1792G>C (p.Gly598Arg) | not specified [RCV004370789] | uncertain significance | 14 | 58646526 | 58646526 | Human | | name |
| 405679188 | CV3236640 | single nucleotide variant | NM_001079520.2(DACT1):c.1997G>A (p.Gly666Glu) | not specified [RCV004370791] | uncertain significance | 14 | 58646731 | 58646731 | Human | | name |
| 405679193 | CV3236641 | single nucleotide variant | NM_001079520.2(DACT1):c.2035C>T (p.Pro679Ser) | not specified [RCV004370792] | uncertain significance | 14 | 58646769 | 58646769 | Human | | name |
| 405679197 | CV3236642 | single nucleotide variant | NM_001079520.2(DACT1):c.2169T>A (p.Ser723Arg) | not specified [RCV004370793] | uncertain significance | 14 | 58646903 | 58646903 | Human | | name |
| 405679202 | CV3236643 | single nucleotide variant | NM_001079520.2(DACT1):c.2188G>A (p.Val730Met) | not specified [RCV004370794] | uncertain significance | 14 | 58646922 | 58646922 | Human | | name |
| 405866611 | CV3401016 | single nucleotide variant | NM_001079520.2(DACT1):c.1703C>T (p.Thr568Met) | Townes-Brocks syndrome 2 [RCV004577132] | uncertain significance | 14 | 58646437 | 58646437 | Human | 1 | name |
| 407452861 | CV3420361 | single nucleotide variant | NM_001079520.2(DACT1):c.1645C>T (p.His549Tyr) | not specified [RCV004608710] | uncertain significance | 14 | 58646379 | 58646379 | Human | | name |
| 407452863 | CV3420362 | single nucleotide variant | NM_001079520.2(DACT1):c.1708G>A (p.Ala570Thr) | not specified [RCV004608711] | uncertain significance | 14 | 58646442 | 58646442 | Human | | name |
| 407452865 | CV3420363 | single nucleotide variant | NM_001079520.2(DACT1):c.1958C>T (p.Ala653Val) | not specified [RCV004608712] | uncertain significance | 14 | 58646692 | 58646692 | Human | | name |
| 407452875 | CV3420368 | single nucleotide variant | NM_001079520.2(DACT1):c.2078G>A (p.Cys693Tyr) | not specified [RCV004608717] | uncertain significance | 14 | 58646812 | 58646812 | Human | | name |
| 407452877 | CV3420369 | single nucleotide variant | NM_001079520.2(DACT1):c.1127T>C (p.Phe376Ser) | not specified [RCV004608718] | uncertain significance | 14 | 58645861 | 58645861 | Human | | name |
| 407452879 | CV3420370 | single nucleotide variant | NM_001079520.2(DACT1):c.1736A>C (p.Asp579Ala) | not specified [RCV004608719] | uncertain significance | 14 | 58646470 | 58646470 | Human | | name |
| 408385052 | CV3505547 | single nucleotide variant | NM_001079520.2(DACT1):c.1678G>T (p.Gly560Cys) | DACT1-related disorder [RCV004732347] | uncertain significance | 14 | 58646412 | 58646412 | Human | | name , trait , alternate_id |
| 408365560 | CV3507673 | single nucleotide variant | NM_001079520.2(DACT1):c.2029G>T (p.Ala677Ser) | DACT1-related disorder [RCV004755089] | uncertain significance | 14 | 58646763 | 58646763 | Human | | name , trait , alternate_id |
| 596920637 | CV3534087 | single nucleotide variant | NM_001079520.2(DACT1):c.2074G>T (p.Glu692Ter) | not specified [RCV004783305] | uncertain significance | 14 | 58646808 | 58646808 | Human | | name |
| 596947620 | CV3549179 | single nucleotide variant | NM_001079520.2(DACT1):c.1148C>G (p.Ser383Trp) | not provided [RCV004811503] | likely benign | 14 | 58645882 | 58645882 | Human | | name |
| 597626947 | CV3655111 | single nucleotide variant | NM_001079520.2(DACT1):c.1353G>C (p.Glu451Asp) | Townes-Brocks syndrome 2 [RCV005006623]|not specified [RCV004913572] | uncertain significance | 14 | 58646087 | 58646087 | Human | 1 | name |
| 597674029 | CV3655113 | single nucleotide variant | NM_001079520.2(DACT1):c.1688C>T (p.Thr563Ile) | not specified [RCV004913573] | uncertain significance | 14 | 58646422 | 58646422 | Human | | name |
| 597674046 | CV3655115 | single nucleotide variant | NM_001079520.2(DACT1):c.1240C>G (p.His414Asp) | not specified [RCV004913575] | uncertain significance | 14 | 58645974 | 58645974 | Human | | name |
| 597674055 | CV3655116 | single nucleotide variant | NM_001079520.2(DACT1):c.1016T>G (p.Val339Gly) | not specified [RCV004913576] | uncertain significance | 14 | 58645750 | 58645750 | Human | | name |
| 597675606 | CV3655117 | single nucleotide variant | NM_001079520.2(DACT1):c.1018T>C (p.Cys340Arg) | not specified [RCV004913577] | uncertain significance | 14 | 58645752 | 58645752 | Human | | name |
| 597674094 | CV3655120 | single nucleotide variant | NM_001079520.2(DACT1):c.1322G>A (p.Ser441Asn) | not specified [RCV004913580] | likely benign | 14 | 58646056 | 58646056 | Human | | name |
| 597674103 | CV3655122 | single nucleotide variant | NM_001079520.2(DACT1):c.1729T>C (p.Phe577Leu) | not specified [RCV004913581] | uncertain significance | 14 | 58646463 | 58646463 | Human | | name |
| 597674120 | CV3655124 | single nucleotide variant | NM_001079520.2(DACT1):c.1886T>A (p.Val629Glu) | not specified [RCV004913583] | uncertain significance | 14 | 58646620 | 58646620 | Human | | name |
| 597674131 | CV3655125 | single nucleotide variant | NM_001079520.2(DACT1):c.1120G>A (p.Gly374Arg) | not specified [RCV004913584] | uncertain significance | 14 | 58645854 | 58645854 | Human | | name |
| 597910302 | CV3782115 | single nucleotide variant | NM_001079520.2(DACT1):c.1258A>T (p.Lys420Ter) | not provided [RCV005128607] | uncertain significance | 14 | 58645992 | 58645992 | Human | | name |
| 598251051 | CV3952766 | single nucleotide variant | NM_001079520.2(DACT1):c.1769C>T (p.Ala590Val) | not specified [RCV005322984] | uncertain significance | 14 | 58646503 | 58646503 | Human | | name |
| 598251057 | CV3952767 | single nucleotide variant | NM_001079520.2(DACT1):c.1759C>T (p.Leu587Phe) | not specified [RCV005322985] | uncertain significance | 14 | 58646493 | 58646493 | Human | | name |
| 598251070 | CV3952769 | single nucleotide variant | NM_001079520.2(DACT1):c.1171G>A (p.Ala391Thr) | not specified [RCV005322987] | uncertain significance | 14 | 58645905 | 58645905 | Human | | name |
| 598251097 | CV3952774 | single nucleotide variant | NM_001079520.2(DACT1):c.1448C>T (p.Pro483Leu) | not specified [RCV005322992] | uncertain significance | 14 | 58646182 | 58646182 | Human | | name |
| 598251106 | CV3952776 | single nucleotide variant | NM_001079520.2(DACT1):c.1907G>A (p.Arg636Gln) | not specified [RCV005322994] | uncertain significance | 14 | 58646641 | 58646641 | Human | | name |
| 598251111 | CV3952777 | single nucleotide variant | NM_001079520.2(DACT1):c.1598A>G (p.His533Arg) | not specified [RCV005322995] | uncertain significance | 14 | 58646332 | 58646332 | Human | | name |
| 12905443 | CV413180 | single nucleotide variant | NM_001079520.2(DACT1):c.1145G>A (p.Trp382Ter) | Townes-Brocks syndrome 2 [RCV000487483] | pathogenic | 14 | 58645879 | 58645879 | Human | 1 | name |
| 15175160 | CV714173 | single nucleotide variant | NM_001079520.2(DACT1):c.1193T>C (p.Leu398Pro) | not provided [RCV000972879] | benign | 14 | 58645927 | 58645927 | Human | | name |
| 15183804 | CV739255 | single nucleotide variant | NM_001079520.2(DACT1):c.1216G>A (p.Ala406Thr) | not provided [RCV000908138] | likely benign | 14 | 58645950 | 58645950 | Human | | name |
| 15129192 | CV739256 | single nucleotide variant | NM_001079520.2(DACT1):c.1861C>T (p.His621Tyr) | DACT1-related disorder [RCV004754615]|not provided [RCV000897399] | likely benign | 14 | 58646595 | 58646595 | Human | 1 | name , trait , alternate_id |
| 15190242 | CV739257 | single nucleotide variant | NM_001079520.2(DACT1):c.1924T>C (p.Trp642Arg) | not provided [RCV000909891] | likely benign | 14 | 58646658 | 58646658 | Human | | name |
| 15140271 | CV739258 | single nucleotide variant | NM_001079520.2(DACT1):c.2026T>A (p.Tyr676Asn) | not provided [RCV000899290]|not specified [RCV004907669] | likely benign|uncertain significance | 14 | 58646760 | 58646760 | Human | | name |
| 15130180 | CV754097 | single nucleotide variant | NM_001079520.2(DACT1):c.1948T>C (p.Tyr650His) | DACT1-related disorder [RCV004754631]|not provided [RCV000919962]|not specified [RCV004029449] | likely benign|uncertain significance | 14 | 58646682 | 58646682 | Human | 1 | name , trait , alternate_id |
| 38468359 | CV920875 | single nucleotide variant | NM_001079520.2(DACT1):c.1820G>A (p.Gly607Asp) | not provided [RCV001200592]|not specified [RCV004033488] | likely benign|uncertain significance | 14 | 58646554 | 58646554 | Human | | name |
| 40815411 | CV970994 | single nucleotide variant | NM_001079520.2(DACT1):c.2207C>T (p.Thr736Ile) | Townes-Brocks syndrome 2 [RCV001262782] | uncertain significance | 14 | 58646941 | 58646941 | Human | 1 | name |
| 13609121 | CV535383 | microsatellite | NM_001079520.2(DACT1):c.868_869del (p.Trp290fs) | DACT1-related neural tube defects [RCV000656341] | likely pathogenic | 14 | 58645600 | 58645601 | Human | | name , trait |
| 150339435 | CV1174849 | deletion | NM_001079520.2(DACT1):c.1362_1363del (p.Ser454fs) | not provided [RCV001543506] | likely pathogenic | 14 | 58646096 | 58646097 | Human | | name |