| 153349923 | CV1693517 | single nucleotide variant | NM_001379403.1(WDR26):c.-2C>T | not provided [RCV002276355] | uncertain significance | 1 | 224434407 | 224434407 | Human | | name |
| 126743154 | CV1019307 | single nucleotide variant | NM_001379403.1(WDR26):c.1319+1G>A | Skraban-Deardorff syndrome [RCV001336700] | pathogenic | 1 | 224418259 | 224418259 | Human | 1 | name |
| 127230398 | CV1087024 | single nucleotide variant | NM_001379403.1(WDR26):c.1163-1G>A | See cases [RCV001420298] | likely pathogenic | 1 | 224418417 | 224418417 | Human | | name |
| 150468745 | CV1257095 | single nucleotide variant | NM_001379403.1(WDR26):c.722+18C>G | Skraban-Deardorff syndrome [RCV002243402]|not provided [RCV001670741] | benign | 1 | 224433666 | 224433666 | Human | 1 | name |
| 155949283 | CV1935958 | single nucleotide variant | NM_001379403.1(WDR26):c.1600-3T>C | not provided [RCV002511610] | uncertain significance | 1 | 224401072 | 224401072 | Human | | name |
| 156045694 | CV2234518 | single nucleotide variant | NM_001379403.1(WDR26):c.1458+3A>G | Inborn genetic diseases [RCV002781714] | uncertain significance | 1 | 224411424 | 224411424 | Human | 1 | name |
| 408386481 | CV3522543 | single nucleotide variant | NM_001379403.1(WDR26):c.723-10T>C | not provided [RCV004767903] | uncertain significance | 1 | 224431791 | 224431791 | Human | | name |
| 408390669 | CV3527671 | single nucleotide variant | NM_001379403.1(WDR26):c.1319+3A>G | not provided [RCV004774939] | uncertain significance | 1 | 224418257 | 224418257 | Human | | name |
| 596947203 | CV3548753 | single nucleotide variant | NM_001379403.1(WDR26):c.1865+8T>C | not provided [RCV004811077] | likely benign | 1 | 224398881 | 224398881 | Human | | name |
| 596947224 | CV3548774 | single nucleotide variant | NM_001379403.1(WDR26):c.1945-2A>G | not provided [RCV004811098] | pathogenic | 1 | 224398228 | 224398228 | Human | | name |
| 38460727 | CV920137 | single nucleotide variant | NM_001379403.1(WDR26):c.1458+1G>A | Skraban-Deardorff syndrome [RCV001196834] | pathogenic | 1 | 224411426 | 224411426 | Human | 1 | name |
| 38485764 | CV959544 | single nucleotide variant | NM_001379403.1(WDR26):c.823-10A>G | Skraban-Deardorff syndrome [RCV003127711]|not provided [RCV001236892] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 1 | 224431591 | 224431591 | Human | 1 | name |
| 40814597 | CV969466 | single nucleotide variant | NM_001379403.1(WDR26):c.1944+1G>C | Intellectual disability [RCV001260841] | pathogenic | 1 | 224398514 | 224398514 | Human | 2 | name |
| 152980831 | CV1676156 | single nucleotide variant | NM_001379403.1(WDR26):c.1945-30T>G | Skraban-Deardorff syndrome [RCV002245231]|not provided [RCV004715629] | benign | 1 | 224398256 | 224398256 | Human | 1 | name |
| 401963711 | CV2843265 | single nucleotide variant | NM_001379403.1(WDR26):c.1163-14A>G | not specified [RCV003479607] | likely benign | 1 | 224418430 | 224418430 | Human | | name |
| 401936790 | CV2816083 | single nucleotide variant | NM_001379403.1(WDR26):c.54G>A (p.Ser18=) | not provided [RCV003414809] | likely benign | 1 | 224434352 | 224434352 | Human | | name |
| 150335812 | CV1165497 | single nucleotide variant | NM_001379403.1(WDR26):c.180C>G (p.Ser60=) | not provided [RCV001531662] | likely benign | 1 | 224434226 | 224434226 | Human | | name |
| 151717047 | CV1334837 | single nucleotide variant | NM_001379403.1(WDR26):c.450G>A (p.Ala150=) | Developmental disorder [RCV001843793] | likely benign | 1 | 224433956 | 224433956 | Human | 1 | name |
| 401936783 | CV2816076 | single nucleotide variant | NM_001379403.1(WDR26):c.603C>T (p.Ala201=) | not provided [RCV003414802] | benign|likely benign | 1 | 224433803 | 224433803 | Human | | name |
| 401936784 | CV2816077 | single nucleotide variant | NM_001379403.1(WDR26):c.513C>T (p.Ser171=) | not provided [RCV003414803] | likely benign | 1 | 224433893 | 224433893 | Human | | name |
| 405259421 | CV3194816 | single nucleotide variant | NM_001379403.1(WDR26):c.387C>T (p.Thr129=) | WDR26-related disorder [RCV003894204] | likely benign | 1 | 224434019 | 224434019 | Human | | name , trait , alternate_id |
| 15190813 | CV696494 | single nucleotide variant | NM_001379403.1(WDR26):c.570C>T (p.Ala190=) | not provided [RCV000954588] | benign | 1 | 224433836 | 224433836 | Human | | name |
| 15183503 | CV707125 | single nucleotide variant | NM_001379403.1(WDR26):c.447C>T (p.Ser149=) | not provided [RCV000974890] | benign | 1 | 224433959 | 224433959 | Human | | name |
| 152979956 | CV1678309 | duplication | NM_001379403.1(WDR26):c.492dup (p.Ser165fs) | Skraban-Deardorff syndrome [RCV002246814] | pathogenic | 1 | 224433913 | 224433914 | Human | 1 | name |
| 152979957 | CV1678310 | deletion | NM_001379403.1(WDR26):c.365del (p.Gly122fs) | Skraban-Deardorff syndrome [RCV002246815] | pathogenic | 1 | 224434041 | 224434041 | Human | 1 | name |
| 329351267 | CV2476423 | single nucleotide variant | NM_001379403.1(WDR26):c.262C>T (p.His88Tyr) | not provided [RCV003222655] | uncertain significance | 1 | 224434144 | 224434144 | Human | | name |
| 401936789 | CV2816082 | single nucleotide variant | NM_001379403.1(WDR26):c.140G>A (p.Gly47Asp) | not provided [RCV003414808] | uncertain significance | 1 | 224434266 | 224434266 | Human | | name |
| 405259968 | CV3186497 | single nucleotide variant | NM_001379403.1(WDR26):c.128G>A (p.Gly43Glu) | not provided [RCV003884256] | uncertain significance | 1 | 224434278 | 224434278 | Human | | name |
| 405276830 | CV3193549 | single nucleotide variant | NM_001379403.1(WDR26):c.2235T>C (p.Pro745=) | WDR26-related disorder [RCV003974717] | likely benign | 1 | 224393853 | 224393853 | Human | | name , trait , alternate_id |
| 405259154 | CV3194572 | single nucleotide variant | NM_001379403.1(WDR26):c.1338T>C (p.Tyr446=) | WDR26-related disorder [RCV003893966] | likely benign | 1 | 224411547 | 224411547 | Human | | name , trait , alternate_id |
| 405270798 | CV3212148 | single nucleotide variant | NM_001379403.1(WDR26):c.1488A>G (p.Thr496=) | WDR26-related disorder [RCV003949514] | likely benign | 1 | 224404541 | 224404541 | Human | | name , trait , alternate_id |
| 405705526 | CV3225123 | deletion | NM_001379403.1(WDR26):c.647del (p.Lys216fs) | Skraban-Deardorff syndrome [RCV003990079] | uncertain significance | 1 | 224433759 | 224433759 | Human | 1 | name |
| 405853728 | CV3395160 | single nucleotide variant | NM_001379403.1(WDR26):c.1458G>A (p.Pro486=) | Skraban-Deardorff syndrome [RCV004555302] | uncertain significance | 1 | 224411427 | 224411427 | Human | 1 | name |
| 407573149 | CV3498950 | single nucleotide variant | NM_001379403.1(WDR26):c.2139A>G (p.Thr713=) | not specified [RCV004699919] | likely benign | 1 | 224393949 | 224393949 | Human | | name |
| 408378318 | CV3511976 | single nucleotide variant | NM_001379403.1(WDR26):c.1086A>G (p.Ala362=) | WDR26-related disorder [RCV004752213] | likely benign | 1 | 224419594 | 224419594 | Human | | name , trait , alternate_id |
| 13480112 | CV442727 | deletion | NM_001379403.1(WDR26):c.356del (p.Gly119fs) | not provided [RCV000521137] | pathogenic | 1 | 224434050 | 224434050 | Human | | name |
| 13524163 | CV495075 | deletion | NM_001379403.1(WDR26):c.627del (p.Glu209fs) | not provided [RCV000599198] | pathogenic | 1 | 224433779 | 224433779 | Human | | name |
| 15155768 | CV696493 | single nucleotide variant | NM_001379403.1(WDR26):c.2109A>G (p.Glu703=) | not provided [RCV000946560] | benign | 1 | 224393979 | 224393979 | Human | | name |
| 15187100 | CV718688 | single nucleotide variant | NM_001379403.1(WDR26):c.1635T>C (p.His545=) | Skraban-Deardorff syndrome [RCV002495367]|not provided [RCV000887161] | benign|likely benign | 1 | 224401034 | 224401034 | Human | 1 | name |
| 25327654 | CV815976 | deletion | NM_001379403.1(WDR26):c.454del (p.Asp152fs) | Skraban-Deardorff syndrome [RCV001027701] | pathogenic | 1 | 224433952 | 224433952 | Human | 1 | name |
| 40886833 | CV973177 | duplication | NM_001379403.1(WDR26):c.509dup (p.Asn170fs) | Inborn genetic diseases [RCV001266109] | pathogenic | 1 | 224433896 | 224433897 | Human | 1 | name |
| 40889766 | CV974970 | deletion | NM_001379403.1(WDR26):c.665del (p.Gln222fs) | not provided [RCV001268221] | pathogenic | 1 | 224433741 | 224433741 | Human | | name |
| 150548997 | CV1294637 | single nucleotide variant | NM_001379403.1(WDR26):c.988C>G (p.Leu330Val) | not provided [RCV001752129] | uncertain significance | 1 | 224424594 | 224424594 | Human | | name |
| 150549364 | CV1295118 | single nucleotide variant | NM_001379403.1(WDR26):c.857T>C (p.Val286Ala) | not provided [RCV001765079] | uncertain significance | 1 | 224431547 | 224431547 | Human | | name |
| 152042029 | CV1669948 | single nucleotide variant | NM_001379403.1(WDR26):c.539T>C (p.Val180Ala) | not provided [RCV002224850] | uncertain significance | 1 | 224433867 | 224433867 | Human | | name |
| 153304371 | CV1686978 | single nucleotide variant | NM_001379403.1(WDR26):c.604T>G (p.Ser202Ala) | not provided [RCV002262265] | uncertain significance | 1 | 224433802 | 224433802 | Human | | name |
| 153346784 | CV1691148 | deletion | NM_001379403.1(WDR26):c.1498del (p.His500fs) | Skraban-Deardorff syndrome [RCV002272629] | pathogenic | 1 | 224404531 | 224404531 | Human | 1 | name |
| 153347071 | CV1691930 | single nucleotide variant | NM_001379403.1(WDR26):c.937T>G (p.Phe313Val) | not provided [RCV002273414] | uncertain significance | 1 | 224424645 | 224424645 | Human | | name |
| 155641338 | CV1709656 | single nucleotide variant | NM_001379403.1(WDR26):c.575T>C (p.Val192Ala) | not provided [RCV002292756] | likely benign | 1 | 224433831 | 224433831 | Human | | name |
| 155947205 | CV1935705 | single nucleotide variant | NM_001379403.1(WDR26):c.407C>G (p.Ser136Trp) | not provided [RCV002511455] | uncertain significance | 1 | 224433999 | 224433999 | Human | | name |
| 10398588 | CV204077 | single nucleotide variant | NM_001379403.1(WDR26):c.912G>T (p.Leu304Phe) | Long QT syndrome [RCV000190124] | likely benign|uncertain significance | 1 | 224431492 | 224431492 | Human | 2 | name |
| 10398654 | CV204078 | single nucleotide variant | NM_001379403.1(WDR26):c.359G>A (p.Gly120Glu) | Long QT syndrome [RCV000190242] | uncertain significance | 1 | 224434047 | 224434047 | Human | 2 | name |
| 156114445 | CV2208909 | deletion | NM_001379403.1(WDR26):c.1193del (p.Pro398fs) | Inborn genetic diseases [RCV002707420] | pathogenic | 1 | 224418386 | 224418386 | Human | 1 | name |
| 155965871 | CV2261847 | single nucleotide variant | NM_001379403.1(WDR26):c.425C>G (p.Ser142Trp) | Inborn genetic diseases [RCV002817260] | uncertain significance | 1 | 224433981 | 224433981 | Human | 1 | name |
| 155906320 | CV2283498 | single nucleotide variant | NM_001379403.1(WDR26):c.410C>T (p.Ala137Val) | Inborn genetic diseases [RCV002837275] | uncertain significance | 1 | 224433996 | 224433996 | Human | 1 | name |
| 156070416 | CV2295812 | single nucleotide variant | NM_001379403.1(WDR26):c.559G>T (p.Ala187Ser) | Inborn genetic diseases [RCV002868676] | uncertain significance | 1 | 224433847 | 224433847 | Human | 1 | name |
| 155909697 | CV2359915 | single nucleotide variant | NM_001379403.1(WDR26):c.311A>G (p.Asn104Ser) | Inborn genetic diseases [RCV002991066] | uncertain significance | 1 | 224434095 | 224434095 | Human | 1 | name |
| 243062447 | CV2404888 | duplication | NM_001379403.1(WDR26):c.1881dup (p.Pro628fs) | Skraban-Deardorff syndrome [RCV003140437] | likely pathogenic | 1 | 224398577 | 224398578 | Human | 1 | name |
| 243062046 | CV2414251 | single nucleotide variant | NM_001379403.1(WDR26):c.460G>C (p.Ala154Pro) | Skraban-Deardorff syndrome [RCV003139320]|not provided [RCV003481454] | uncertain significance | 1 | 224433946 | 224433946 | Human | 1 | name |
| 243052876 | CV2418269 | single nucleotide variant | NM_001379403.1(WDR26):c.820A>G (p.Lys274Glu) | not provided [RCV003154102] | uncertain significance | 1 | 224431684 | 224431684 | Human | | name |
| 329847760 | CV2524509 | single nucleotide variant | NM_001379403.1(WDR26):c.517A>G (p.Ser173Gly) | not provided [RCV003227401] | uncertain significance | 1 | 224433889 | 224433889 | Human | | name |
| 401748722 | CV2692728 | single nucleotide variant | NM_001379403.1(WDR26):c.562T>G (p.Ser188Ala) | Inborn genetic diseases [RCV003276302] | likely benign | 1 | 224433844 | 224433844 | Human | 1 | name |
| 401756963 | CV2692730 | single nucleotide variant | NM_001379403.1(WDR26):c.586T>G (p.Ser196Ala) | Inborn genetic diseases [RCV003255872] | uncertain significance | 1 | 224433820 | 224433820 | Human | 1 | name |
| 401748730 | CV2692731 | single nucleotide variant | NM_001379403.1(WDR26):c.598G>A (p.Ala200Thr) | Inborn genetic diseases [RCV003276304] | uncertain significance | 1 | 224433808 | 224433808 | Human | 1 | name |
| 401759632 | CV2701644 | single nucleotide variant | NM_001379403.1(WDR26):c.471T>G (p.Asn157Lys) | Inborn genetic diseases [RCV003256936] | uncertain significance | 1 | 224433935 | 224433935 | Human | 1 | name |
| 401764498 | CV2705040 | single nucleotide variant | NM_001379403.1(WDR26):c.652A>C (p.Lys218Gln) | Inborn genetic diseases [RCV003281866] | uncertain significance | 1 | 224433754 | 224433754 | Human | 1 | name |
| 401768251 | CV2735237 | single nucleotide variant | NM_001379403.1(WDR26):c.389C>A (p.Pro130Gln) | Inborn genetic diseases [RCV003302508] | likely benign | 1 | 224434017 | 224434017 | Human | 1 | name |
| 401903603 | CV2800041 | single nucleotide variant | NM_001379403.1(WDR26):c.428C>T (p.Ser143Phe) | WDR26-related disorder [RCV003394489] | uncertain significance | 1 | 224433978 | 224433978 | Human | | name , trait , alternate_id |
| 401924680 | CV2805048 | single nucleotide variant | NM_001379403.1(WDR26):c.523A>G (p.Asn175Asp) | not specified [RCV003404867] | uncertain significance | 1 | 224433883 | 224433883 | Human | | name |
| 405213190 | CV2918293 | single nucleotide variant | NM_001379403.1(WDR26):c.465C>A (p.His155Gln) | not provided [RCV003567424] | uncertain significance | 1 | 224433941 | 224433941 | Human | | name |
| 405269867 | CV3187518 | duplication | NM_001379403.1(WDR26):c.1354dup (p.Thr452fs) | not provided [RCV003887602] | pathogenic | 1 | 224411530 | 224411531 | Human | | name |
| 405291317 | CV3222304 | duplication | NM_001379403.1(WDR26):c.1039dup (p.Thr347fs) | Skraban-Deardorff syndrome [RCV003985186] | pathogenic | 1 | 224424542 | 224424543 | Human | 1 | name |
| 405701195 | CV3225950 | single nucleotide variant | NM_001379403.1(WDR26):c.463C>T (p.His155Tyr) | Skraban-Deardorff syndrome [RCV003989389] | uncertain significance | 1 | 224433943 | 224433943 | Human | 1 | name |
| 405802339 | CV3349199 | deletion | NM_001379403.1(WDR26):c.1849del (p.Thr618fs) | Inborn genetic diseases [RCV004478274] | pathogenic | 1 | 224398905 | 224398905 | Human | 1 | name |
| 405802342 | CV3349200 | single nucleotide variant | NM_001379403.1(WDR26):c.482C>T (p.Pro161Leu) | Inborn genetic diseases [RCV004478275] | uncertain significance | 1 | 224433924 | 224433924 | Human | 1 | name |
| 405802344 | CV3349201 | single nucleotide variant | NM_001379403.1(WDR26):c.655C>T (p.Arg219Trp) | Inborn genetic diseases [RCV004478276] | uncertain significance | 1 | 224433751 | 224433751 | Human | 1 | name |
| 405802348 | CV3349203 | single nucleotide variant | NM_001379403.1(WDR26):c.347G>A (p.Gly116Asp) | Inborn genetic diseases [RCV004478278] | uncertain significance | 1 | 224434059 | 224434059 | Human | 1 | name |
| 407523784 | CV3489726 | single nucleotide variant | NM_001379403.1(WDR26):c.526G>A (p.Val176Ile) | Inborn genetic diseases [RCV004678181] | likely benign | 1 | 224433880 | 224433880 | Human | 1 | name |
| 407523787 | CV3489727 | single nucleotide variant | NM_001379403.1(WDR26):c.626A>T (p.Glu209Val) | Inborn genetic diseases [RCV004678182] | uncertain significance | 1 | 224433780 | 224433780 | Human | 1 | name |
| 407523788 | CV3489728 | single nucleotide variant | NM_001379403.1(WDR26):c.914T>G (p.Leu305Trp) | Inborn genetic diseases [RCV004678183] | uncertain significance | 1 | 224431490 | 224431490 | Human | 1 | name |
| 407523795 | CV3489731 | single nucleotide variant | NM_001379403.1(WDR26):c.484T>C (p.Ser162Pro) | Inborn genetic diseases [RCV004678186] | uncertain significance | 1 | 224433922 | 224433922 | Human | 1 | name |
| 407508788 | CV3496403 | deletion | NM_001379403.1(WDR26):c.1777del (p.Cys593fs) | not provided [RCV004698244] | pathogenic | 1 | 224398977 | 224398977 | Human | | name |
| 408385922 | CV3520422 | single nucleotide variant | NM_001379403.1(WDR26):c.650A>T (p.Lys217Met) | not provided [RCV004760243] | uncertain significance | 1 | 224433756 | 224433756 | Human | | name |
| 408389040 | CV3522872 | single nucleotide variant | NM_001379403.1(WDR26):c.851C>G (p.Pro284Arg) | not provided [RCV004769253] | uncertain significance | 1 | 224431553 | 224431553 | Human | | name |
| 596928809 | CV3540568 | single nucleotide variant | NM_001379403.1(WDR26):c.944T>G (p.Leu315Arg) | not provided [RCV004794896] | likely pathogenic | 1 | 224424638 | 224424638 | Human | | name |
| 596946428 | CV3548249 | single nucleotide variant | NM_001379403.1(WDR26):c.563C>G (p.Ser188Cys) | not provided [RCV004810074] | likely benign | 1 | 224433843 | 224433843 | Human | | name |
| 597630549 | CV3633510 | single nucleotide variant | NM_001379403.1(WDR26):c.379G>A (p.Gly127Arg) | Inborn genetic diseases [RCV004967343] | uncertain significance | 1 | 224434027 | 224434027 | Human | 1 | name |
| 597630554 | CV3633511 | single nucleotide variant | NM_001379403.1(WDR26):c.380G>C (p.Gly127Ala) | Inborn genetic diseases [RCV004967344] | uncertain significance | 1 | 224434026 | 224434026 | Human | 1 | name |
| 597630563 | CV3633513 | single nucleotide variant | NM_001379403.1(WDR26):c.601G>T (p.Ala201Ser) | Inborn genetic diseases [RCV004967346] | uncertain significance | 1 | 224433805 | 224433805 | Human | 1 | name |
| 597630566 | CV3633514 | single nucleotide variant | NM_001379403.1(WDR26):c.619A>T (p.Thr207Ser) | Inborn genetic diseases [RCV004967347] | uncertain significance | 1 | 224433787 | 224433787 | Human | 1 | name |
| 13212535 | CV426510 | deletion | NM_001379403.1(WDR26):c.1757del (p.Val586fs) | Skraban-Deardorff syndrome [RCV000498946] | pathogenic | 1 | 224398997 | 224398997 | Human | 1 | name |
| 13705252 | CV536227 | deletion | NM_001379403.1(WDR26):c.1259del (p.Asn420fs) | not provided [RCV000657565] | pathogenic | 1 | 224418320 | 224418320 | Human | | name |
| 13837980 | CV589279 | single nucleotide variant | NM_001379403.1(WDR26):c.566C>T (p.Ser189Leu) | Inborn genetic diseases [RCV002535384]|not provided [RCV000734553] | uncertain significance | 1 | 224433840 | 224433840 | Human | 1 | name |
| 40889928 | CV974968 | duplication | NM_001379403.1(WDR26):c.1910dup (p.Asn637fs) | not provided [RCV001268450] | pathogenic | 1 | 224398548 | 224398549 | Human | | name |
| 41408057 | CV980657 | single nucleotide variant | NM_001379403.1(WDR26):c.494C>T (p.Ser165Phe) | Skraban-Deardorff syndrome [RCV004799560]|not provided [RCV003416147] | uncertain significance | 1 | 224433912 | 224433912 | Human | 1 | name |
| 126732716 | CV1000185 | single nucleotide variant | NM_001379403.1(WDR26):c.1963T>G (p.Leu655Val) | not provided [RCV001310901] | uncertain significance | 1 | 224398208 | 224398208 | Human | | name |
| 126727842 | CV1015662 | single nucleotide variant | NM_001379403.1(WDR26):c.1045C>T (p.Arg349Cys) | Skraban-Deardorff syndrome [RCV001332601] | uncertain significance | 1 | 224424537 | 224424537 | Human | 1 | name |
| 126727839 | CV1015663 | single nucleotide variant | NM_001379403.1(WDR26):c.1036A>C (p.Asn346His) | Skraban-Deardorff syndrome [RCV001332600] | uncertain significance | 1 | 224424546 | 224424546 | Human | 1 | name |
| 127286765 | CV1151779 | single nucleotide variant | NM_001379403.1(WDR26):c.1198C>T (p.Arg400Cys) | Skraban-Deardorff syndrome [RCV001507329] | likely pathogenic | 1 | 224418381 | 224418381 | Human | 1 | name |
| 150468333 | CV1241884 | single nucleotide variant | NM_001379403.1(WDR26):c.1411G>C (p.Ala471Pro) | Skraban-Deardorff syndrome [RCV001650486] | likely pathogenic | 1 | 224411474 | 224411474 | Human | 1 | name |
| 150548933 | CV1293980 | single nucleotide variant | NM_001379403.1(WDR26):c.1361A>G (p.His454Arg) | not provided [RCV001764820] | uncertain significance | 1 | 224411524 | 224411524 | Human | | name |
| 150555208 | CV1297636 | single nucleotide variant | NM_001379403.1(WDR26):c.1389C>G (p.Phe463Leu) | not provided [RCV001772543] | uncertain significance | 1 | 224411496 | 224411496 | Human | | name |
| 150547992 | CV1303960 | single nucleotide variant | NM_001379403.1(WDR26):c.1642A>G (p.Ser548Gly) | not provided [RCV001764063] | uncertain significance | 1 | 224401027 | 224401027 | Human | | name |
| 150554589 | CV1304303 | single nucleotide variant | NM_001379403.1(WDR26):c.1006C>G (p.Leu336Val) | Skraban-Deardorff syndrome [RCV002272491]|not provided [RCV001771273] | likely pathogenic|uncertain significance | 1 | 224424576 | 224424576 | Human | 1 | name |
| 150543903 | CV1309865 | single nucleotide variant | NM_001379403.1(WDR26):c.1113G>A (p.Trp371Ter) | not provided [RCV003237608] | pathogenic | 1 | 224419567 | 224419567 | Human | | name |
| 151350680 | CV1324801 | single nucleotide variant | NM_001379403.1(WDR26):c.1556G>A (p.Cys519Tyr) | Skraban-Deardorff syndrome [RCV001809246] | likely pathogenic | 1 | 224404473 | 224404473 | Human | 1 | name |
| 151350837 | CV1325786 | single nucleotide variant | NM_001379403.1(WDR26):c.2182A>G (p.Met728Val) | not specified [RCV001815132] | uncertain significance | 1 | 224393906 | 224393906 | Human | | name |
| 151353111 | CV1325989 | single nucleotide variant | NM_001379403.1(WDR26):c.1271A>G (p.Asp424Gly) | not provided [RCV001816075] | likely pathogenic|conflicting interpretations of pathogenicity | 1 | 224418308 | 224418308 | Human | | name |
| 152977968 | CV1671329 | single nucleotide variant | NM_001379403.1(WDR26):c.1822C>T (p.Arg608Ter) | Skraban-Deardorff syndrome [RCV002227003] | pathogenic | 1 | 224398932 | 224398932 | Human | 1 | name |
| 152978478 | CV1671653 | single nucleotide variant | NM_001379403.1(WDR26):c.1355C>T (p.Thr452Met) | Skraban-Deardorff syndrome [RCV002227758] | uncertain significance | 1 | 224411530 | 224411530 | Human | 1 | name |
| 155265406 | CV1695566 | single nucleotide variant | NM_001379403.1(WDR26):c.1082A>G (p.His361Arg) | Skraban-Deardorff syndrome [RCV002280298] | likely pathogenic | 1 | 224419598 | 224419598 | Human | 1 | name |
| 155268299 | CV1701721 | single nucleotide variant | NM_001379403.1(WDR26):c.1446G>A (p.Trp482Ter) | Skraban-Deardorff syndrome [RCV002283951] | likely pathogenic | 1 | 224411439 | 224411439 | Human | 1 | name |
| 155645723 | CV1709077 | single nucleotide variant | NM_001379403.1(WDR26):c.1050T>G (p.Ile350Met) | not provided [RCV002291953] | uncertain significance | 1 | 224424532 | 224424532 | Human | | name |
| 155641337 | CV1709655 | single nucleotide variant | NM_001379403.1(WDR26):c.1916G>T (p.Arg639Leu) | not provided [RCV002292755] | uncertain significance | 1 | 224398543 | 224398543 | Human | | name |
| 155798186 | CV1859638 | single nucleotide variant | NM_001379403.1(WDR26):c.1376G>A (p.Trp459Ter) | Skraban-Deardorff syndrome [RCV002465430] | pathogenic | 1 | 224411509 | 224411509 | Human | 1 | name |
| 156402036 | CV1908063 | single nucleotide variant | NM_001379403.1(WDR26):c.1216C>T (p.Arg406Trp) | not provided [RCV002584986] | uncertain significance | 1 | 224418363 | 224418363 | Human | | name |
| 156352341 | CV2015364 | single nucleotide variant | NM_001379403.1(WDR26):c.1022C>T (p.Thr341Met) | not provided [RCV002720274] | uncertain significance | 1 | 224424560 | 224424560 | Human | | name |
| 156145677 | CV2218823 | single nucleotide variant | NM_001379403.1(WDR26):c.1457C>T (p.Pro486Leu) | Inborn genetic diseases [RCV002697327]|not provided [RCV003456550] | uncertain significance | 1 | 224411428 | 224411428 | Human | 1 | name |
| 156382223 | CV2227247 | single nucleotide variant | NM_001379403.1(WDR26):c.1073T>C (p.Met358Thr) | Inborn genetic diseases [RCV002722734] | uncertain significance | 1 | 224419607 | 224419607 | Human | 1 | name |
| 156336003 | CV2228479 | single nucleotide variant | NM_001379403.1(WDR26):c.2059G>A (p.Ala687Thr) | Inborn genetic diseases [RCV002718556] | likely benign | 1 | 224398112 | 224398112 | Human | 1 | name |
| 156303403 | CV2258849 | single nucleotide variant | NM_001379403.1(WDR26):c.1441A>G (p.Ile481Val) | Inborn genetic diseases [RCV002808311] | uncertain significance | 1 | 224411444 | 224411444 | Human | 1 | name |
| 155991863 | CV2281148 | single nucleotide variant | NM_001379403.1(WDR26):c.1776G>A (p.Trp592Ter) | Inborn genetic diseases [RCV002882504] | pathogenic | 1 | 224398978 | 224398978 | Human | 1 | name |
| 155957945 | CV2282134 | single nucleotide variant | NM_001379403.1(WDR26):c.1888A>T (p.Met630Leu) | Inborn genetic diseases [RCV002841030] | uncertain significance | 1 | 224398571 | 224398571 | Human | 1 | name |
| 156174843 | CV2377198 | single nucleotide variant | NM_001379403.1(WDR26):c.1544A>G (p.Tyr515Cys) | Inborn genetic diseases [RCV002699025] | likely benign | 1 | 224404485 | 224404485 | Human | 1 | name |
| 156451329 | CV2402722 | single nucleotide variant | NM_001379403.1(WDR26):c.2249A>G (p.Gln750Arg) | not specified [RCV003123528] | uncertain significance | 1 | 224393839 | 224393839 | Human | | name |
| 156434424 | CV2402888 | single nucleotide variant | NM_001379403.1(WDR26):c.1025C>T (p.Pro342Leu) | not provided [RCV003126326] | likely pathogenic|conflicting interpretations of pathogenicity | 1 | 224424557 | 224424557 | Human | | name |
| 243062047 | CV2414252 | single nucleotide variant | NM_001379403.1(WDR26):c.1510G>A (p.Val504Ile) | Skraban-Deardorff syndrome [RCV003139321] | uncertain significance | 1 | 224404519 | 224404519 | Human | 1 | name |
| 243049894 | CV2417238 | single nucleotide variant | NM_001379403.1(WDR26):c.2026T>G (p.Ser676Ala) | not provided [RCV003152110] | uncertain significance | 1 | 224398145 | 224398145 | Human | | name |
| 243054305 | CV2418538 | single nucleotide variant | NM_001379403.1(WDR26):c.1443A>G (p.Ile481Met) | not provided [RCV003154535] | uncertain significance | 1 | 224411442 | 224411442 | Human | | name |
| 329397161 | CV2456651 | single nucleotide variant | NM_001379403.1(WDR26):c.1669G>C (p.Asp557His) | Inborn genetic diseases [RCV003219893] | uncertain significance | 1 | 224401000 | 224401000 | Human | 1 | name |
| 329351266 | CV2476422 | single nucleotide variant | NM_001379403.1(WDR26):c.1630T>A (p.Ser544Thr) | not provided [RCV003222654] | likely benign|uncertain significance | 1 | 224401039 | 224401039 | Human | | name |
| 329953832 | CV2669169 | single nucleotide variant | NM_001379403.1(WDR26):c.1111T>C (p.Trp371Arg) | not provided [RCV003231673] | uncertain significance | 1 | 224419569 | 224419569 | Human | | name |
| 329953844 | CV2669181 | single nucleotide variant | NM_001379403.1(WDR26):c.1814C>T (p.Thr605Ile) | not provided [RCV003231685] | uncertain significance | 1 | 224398940 | 224398940 | Human | | name |
| 329953152 | CV2669864 | single nucleotide variant | NM_001379403.1(WDR26):c.1673G>A (p.Gly558Glu) | not provided [RCV003234488] | uncertain significance | 1 | 224400996 | 224400996 | Human | | name |
| 401859252 | CV2750715 | single nucleotide variant | NM_001379403.1(WDR26):c.1702G>A (p.Gly568Arg) | Skraban-Deardorff syndrome [RCV003334431] | uncertain significance | 1 | 224400967 | 224400967 | Human | 1 | name |
| 401919022 | CV2794731 | single nucleotide variant | NM_001379403.1(WDR26):c.2063G>A (p.Ser688Asn) | not specified [RCV003388405] | uncertain significance | 1 | 224398108 | 224398108 | Human | | name |
| 401921084 | CV2802052 | single nucleotide variant | NM_001379403.1(WDR26):c.1204C>T (p.Gln402Ter) | WDR26-related disorder [RCV003402780] | pathogenic | 1 | 224418375 | 224418375 | Human | | name , trait , alternate_id |
| 401912432 | CV2802869 | single nucleotide variant | NM_001379403.1(WDR26):c.2129C>T (p.Thr710Ile) | WDR26-related disorder [RCV003399848] | uncertain significance | 1 | 224393959 | 224393959 | Human | | name , trait , alternate_id |
| 401917058 | CV2829640 | single nucleotide variant | NM_001379403.1(WDR26):c.1835A>G (p.Tyr612Cys) | not provided [RCV003443684] | uncertain significance | 1 | 224398919 | 224398919 | Human | | name |
| 401917346 | CV2829814 | single nucleotide variant | NM_001379403.1(WDR26):c.1586T>C (p.Leu529Pro) | not provided [RCV003443858] | uncertain significance | 1 | 224404443 | 224404443 | Human | | name |
| 405279514 | CV3217488 | single nucleotide variant | NM_001379403.1(WDR26):c.1784G>A (p.Ser595Asn) | WDR26-related disorder [RCV003976890] | uncertain significance | 1 | 224398970 | 224398970 | Human | | name , trait , alternate_id |
| 405802337 | CV3349198 | single nucleotide variant | NM_001379403.1(WDR26):c.1559G>T (p.Gly520Val) | Inborn genetic diseases [RCV004478273] | uncertain significance | 1 | 224404470 | 224404470 | Human | 1 | name |
| 405802350 | CV3349204 | single nucleotide variant | NM_001379403.1(WDR26):c.1244G>A (p.Arg415Gln) | Inborn genetic diseases [RCV004478279] | uncertain significance | 1 | 224418335 | 224418335 | Human | 1 | name |
| 405853518 | CV3392822 | single nucleotide variant | NM_001379403.1(WDR26):c.2047G>A (p.Glu683Lys) | not specified [RCV004526548] | uncertain significance | 1 | 224398124 | 224398124 | Human | | name |
| 407523791 | CV3489729 | single nucleotide variant | NM_001379403.1(WDR26):c.1578G>C (p.Glu526Asp) | Inborn genetic diseases [RCV004678184] | uncertain significance | 1 | 224404451 | 224404451 | Human | 1 | name |
| 408377629 | CV3510151 | single nucleotide variant | NM_001379403.1(WDR26):c.1756G>T (p.Val586Leu) | WDR26-related disorder [RCV004751126] | uncertain significance | 1 | 224398998 | 224398998 | Human | | name , trait , alternate_id |
| 408389420 | CV3523087 | single nucleotide variant | NM_001379403.1(WDR26):c.1037A>G (p.Asn346Ser) | not provided [RCV004769468] | uncertain significance | 1 | 224424545 | 224424545 | Human | | name |
| 408389871 | CV3524803 | single nucleotide variant | NM_001379403.1(WDR26):c.1304A>C (p.Asp435Ala) | not provided [RCV004769698] | uncertain significance | 1 | 224418275 | 224418275 | Human | | name |
| 408387393 | CV3527045 | single nucleotide variant | NM_001379403.1(WDR26):c.1438A>C (p.Ile480Leu) | not provided [RCV004773347] | uncertain significance | 1 | 224411447 | 224411447 | Human | | name |
| 408390375 | CV3527527 | single nucleotide variant | NM_001379403.1(WDR26):c.1067A>G (p.Tyr356Cys) | not provided [RCV004774794] | uncertain significance | 1 | 224419613 | 224419613 | Human | | name |
| 408393482 | CV3528483 | single nucleotide variant | NM_001379403.1(WDR26):c.1718G>A (p.Cys573Tyr) | not provided [RCV004776251] | uncertain significance | 1 | 224400951 | 224400951 | Human | | name |
| 408385695 | CV3528635 | single nucleotide variant | NM_001379403.1(WDR26):c.1022C>G (p.Thr341Arg) | not provided [RCV004772468] | uncertain significance | 1 | 224424560 | 224424560 | Human | | name |
| 408389007 | CV3529175 | single nucleotide variant | NM_001379403.1(WDR26):c.2225G>T (p.Gly742Val) | not provided [RCV004773997] | uncertain significance | 1 | 224393863 | 224393863 | Human | | name |
| 596930079 | CV3531343 | single nucleotide variant | NM_001379403.1(WDR26):c.1103A>C (p.Lys368Thr) | not provided [RCV004779917] | uncertain significance | 1 | 224419577 | 224419577 | Human | | name |
| 596924660 | CV3532338 | single nucleotide variant | NM_001379403.1(WDR26):c.1352T>C (p.Leu451Pro) | not provided [RCV004777449] | likely pathogenic|uncertain significance | 1 | 224411533 | 224411533 | Human | | name |
| 596922275 | CV3537073 | single nucleotide variant | NM_001379403.1(WDR26):c.1133C>A (p.Ser378Tyr) | not provided [RCV004786068] | uncertain significance | 1 | 224419547 | 224419547 | Human | | name |
| 596945056 | CV3543696 | single nucleotide variant | NM_001379403.1(WDR26):c.1841T>C (p.Phe614Ser) | not provided [RCV004801818] | uncertain significance | 1 | 224398913 | 224398913 | Human | | name |
| 596945185 | CV3543787 | single nucleotide variant | NM_001379403.1(WDR26):c.2030G>T (p.Cys677Phe) | not provided [RCV004801909] | uncertain significance | 1 | 224398141 | 224398141 | Human | | name |
| 597633027 | CV3552935 | single nucleotide variant | NM_001379403.1(WDR26):c.1531C>G (p.Pro511Ala) | not provided [RCV004823765] | uncertain significance | 1 | 224404498 | 224404498 | Human | | name |
| 597630558 | CV3633512 | single nucleotide variant | NM_001379403.1(WDR26):c.1658C>G (p.Ala553Gly) | Inborn genetic diseases [RCV004967345] | uncertain significance | 1 | 224401011 | 224401011 | Human | 1 | name |
| 598125696 | CV3885905 | single nucleotide variant | NM_001379403.1(WDR26):c.2258A>C (p.Glu753Ala) | not provided [RCV005241708] | uncertain significance | 1 | 224393830 | 224393830 | Human | | name |
| 598122903 | CV3890053 | single nucleotide variant | NM_001379403.1(WDR26):c.2033T>C (p.Phe678Ser) | not provided [RCV005250572] | uncertain significance | 1 | 224398138 | 224398138 | Human | | name |
| 598257386 | CV3937027 | single nucleotide variant | NM_001379403.1(WDR26):c.1508G>A (p.Gly503Asp) | Inborn genetic diseases [RCV005299812] | uncertain significance | 1 | 224404521 | 224404521 | Human | 1 | name |
| 598219563 | CV3937028 | single nucleotide variant | NM_001379403.1(WDR26):c.1900A>G (p.Ile634Val) | Inborn genetic diseases [RCV005293336] | uncertain significance | 1 | 224398559 | 224398559 | Human | 1 | name |
| 616938599 | CV4013255 | single nucleotide variant | NM_001379403.1(WDR26):c.1223C>T (p.Ala408Val) | not provided [RCV005410722] | uncertain significance | 1 | 224418356 | 224418356 | Human | | name |
| 617150151 | CV4017166 | single nucleotide variant | NM_001379403.1(WDR26):c.1123G>T (p.Gly375Trp) | not provided [RCV005416823] | uncertain significance | 1 | 224419557 | 224419557 | Human | | name |
| 617154433 | CV4022538 | single nucleotide variant | NM_001379403.1(WDR26):c.1456C>A (p.Pro486Thr) | not provided [RCV005429895] | uncertain significance | 1 | 224411429 | 224411429 | Human | | name |
| 13211719 | CV426508 | single nucleotide variant | NM_001379403.1(WDR26):c.1576G>T (p.Glu526Ter) | Skraban-Deardorff syndrome [RCV000497821] | pathogenic | 1 | 224404453 | 224404453 | Human | 1 | name |
| 13212205 | CV426512 | single nucleotide variant | NM_001379403.1(WDR26):c.1150G>A (p.Asp384Asn) | Skraban-Deardorff syndrome [RCV000498483] | pathogenic | 1 | 224419530 | 224419530 | Human | 1 | name |
| 13211337 | CV426513 | single nucleotide variant | NM_001379403.1(WDR26):c.1062T>G (p.Ser354Arg) | Skraban-Deardorff syndrome [RCV000497307] | pathogenic | 1 | 224424520 | 224424520 | Human | 1 | name |
| 13463086 | CV439624 | single nucleotide variant | NM_001379403.1(WDR26):c.1537G>A (p.Asp513Asn) | Skraban-Deardorff syndrome [RCV000515492] | likely pathogenic | 1 | 224404492 | 224404492 | Human | 1 | name |
| 13463088 | CV439625 | single nucleotide variant | NM_001379403.1(WDR26):c.1525T>G (p.Trp509Gly) | Skraban-Deardorff syndrome [RCV000515498] | likely pathogenic | 1 | 224404504 | 224404504 | Human | 1 | name |
| 13531333 | CV511230 | single nucleotide variant | NM_001379403.1(WDR26):c.2267G>T (p.Cys756Phe) | Inborn genetic diseases [RCV000623249] | uncertain significance | 1 | 224389854 | 224389854 | Human | 1 | name |
| 13530624 | CV511232 | single nucleotide variant | NM_001379403.1(WDR26):c.1870C>G (p.Gln624Glu) | Inborn genetic diseases [RCV000622642] | uncertain significance | 1 | 224398589 | 224398589 | Human | 1 | name |
| 14978176 | CV677300 | single nucleotide variant | NM_001379403.1(WDR26):c.1136G>A (p.Arg379Gln) | Skraban-Deardorff syndrome [RCV000850385] | uncertain significance | 1 | 224419544 | 224419544 | Human | 1 | name |
| 21070590 | CV789936 | single nucleotide variant | NM_001379403.1(WDR26):c.1694G>T (p.Gly565Val) | Skraban-Deardorff syndrome [RCV000986558] | likely pathogenic | 1 | 224400975 | 224400975 | Human | 1 | name |
| 21072487 | CV794593 | single nucleotide variant | NM_001379403.1(WDR26):c.1544A>C (p.Tyr515Ser) | not provided [RCV000994264] | uncertain significance | 1 | 224404485 | 224404485 | Human | | name |
| 34895750 | CV916816 | single nucleotide variant | NM_001379403.1(WDR26):c.1196G>A (p.Arg399Gln) | WDR26-related disorder [RCV003396802]|not specified [RCV001192909] | likely pathogenic|uncertain significance | 1 | 224418383 | 224418383 | Human | 1 | name , trait , alternate_id |
| 38461920 | CV918612 | single nucleotide variant | NM_001379403.1(WDR26):c.1317T>G (p.Ser439Arg) | Skraban-Deardorff syndrome [RCV001198028] | uncertain significance | 1 | 224418262 | 224418262 | Human | 1 | name |
| 40815432 | CV970677 | single nucleotide variant | NM_001379403.1(WDR26):c.1468C>G (p.Leu490Val) | Inborn genetic diseases [RCV004967935]|Skraban-Deardorff syndrome [RCV001262819] | uncertain significance | 1 | 224404561 | 224404561 | Human | 2 | name |
| 40815565 | CV971237 | single nucleotide variant | NM_001379403.1(WDR26):c.1829G>A (p.Arg610Gln) | Skraban-Deardorff syndrome [RCV001263021] | pathogenic|likely pathogenic | 1 | 224398925 | 224398925 | Human | 1 | name |
| 40887531 | CV973175 | single nucleotide variant | NM_001379403.1(WDR26):c.2094G>A (p.Trp698Ter) | Inborn genetic diseases [RCV001267154] | pathogenic | 1 | 224393994 | 224393994 | Human | 1 | name |
| 40886802 | CV973176 | single nucleotide variant | NM_001379403.1(WDR26):c.1812T>A (p.Asp604Glu) | Inborn genetic diseases [RCV001266044] | uncertain significance | 1 | 224398942 | 224398942 | Human | 1 | name |
| 40889402 | CV974967 | single nucleotide variant | NM_001379403.1(WDR26):c.2204A>G (p.Asp735Gly) | Skraban-Deardorff syndrome [RCV003224887]|not provided [RCV001267965] | pathogenic|likely pathogenic | 1 | 224393884 | 224393884 | Human | 1 | name |
| 41407109 | CV980656 | single nucleotide variant | NM_001379403.1(WDR26):c.1796C>T (p.Thr599Ile) | Skraban-Deardorff syndrome [RCV004799615] | uncertain significance | 1 | 224398958 | 224398958 | Human | 1 | name |
| 42723673 | CV984548 | single nucleotide variant | NM_001379403.1(WDR26):c.1916G>A (p.Arg639Gln) | Skraban-Deardorff syndrome [RCV001291662] | uncertain significance | 1 | 224398543 | 224398543 | Human | 1 | name |
| 126732722 | CV1000186 | microsatellite | NM_001379403.1(WDR26):c.736CTC[1] (p.Leu247del) | not provided [RCV001310902] | likely pathogenic | 1 | 224431763 | 224431765 | Human | | name |
| 150547549 | CV1316078 | deletion | NM_001379403.1(WDR26):c.390_412del (p.Leu132fs) | Skraban-Deardorff syndrome [RCV001785354] | pathogenic | 1 | 224433994 | 224434016 | Human | 1 | name |
| 152979955 | CV1678308 | deletion | NM_001379403.1(WDR26):c.773_776del (p.Pro258fs) | Skraban-Deardorff syndrome [RCV002246813] | pathogenic | 1 | 224431728 | 224431731 | Human | 1 | name |
| 155645278 | CV1710729 | deletion | NM_001379403.1(WDR26):c.834_838del (p.Asp278fs) | Skraban-Deardorff syndrome [RCV002294545] | pathogenic | 1 | 224431566 | 224431570 | Human | 1 | name |
| 156434274 | CV2402205 | microsatellite | NM_001379403.1(WDR26):c.318AGG[5] (p.Gly125del) | Skraban-Deardorff syndrome [RCV003120364]|WDR26-related disorder [RCV003973766]|not provided [RCV003420558] | benign | 1 | 224434071 | 224434073 | Human | | name , trait , alternate_id |
| 40889787 | CV974969 | deletion | NM_001379403.1(WDR26):c.740_741del (p.Leu247fs) | not provided [RCV001268256] | pathogenic | 1 | 224431763 | 224431764 | Human | | name |
| 405802346 | CV3349202 | deletion | NM_001379403.1(WDR26):c.336_338del (p.Gly125del) | Inborn genetic diseases [RCV004478277]|not provided [RCV004721811] | likely benign | 1 | 224434068 | 224434070 | Human | 1 | name |
| 13508755 | CV481308 | insertion | NM_001379403.1(WDR26):c.373_374insA (p.Gly125fs) | Intellectual disability, seizures, abnormal gait and distinctive facial features [RCV000578316] | pathogenic | 1 | 224434032 | 224434033 | Human | | name |
| 13212098 | CV426509 | deletion | NM_001379403.1(WDR26):c.1461_1462del (p.His489fs) | Skraban-Deardorff syndrome [RCV000498337] | pathogenic | 1 | 224404567 | 224404568 | Human | 1 | name |
| 13211798 | CV426511 | deletion | NM_001379403.1(WDR26):c.1204_1205del (p.Gln402fs) | Skraban-Deardorff syndrome [RCV000497929] | pathogenic | 1 | 224418374 | 224418375 | Human | 1 | name |
| 21070588 | CV789935 | microsatellite | NM_001379403.1(WDR26):c.1974_1975del (p.Arg658fs) | Skraban-Deardorff syndrome [RCV000986557] | pathogenic|likely pathogenic | 1 | 224398196 | 224398197 | Human | | name |
| 401936788 | CV2816081 | microsatellite | NM_001379403.1(WDR26):c.178TCC[6] (p.Ser66_Ser67del) | not provided [RCV003414807] | benign | 1 | 224434205 | 224434210 | Human | | name |
| 405282051 | CV3224722 | deletion | NM_001379403.1(WDR26):c.647_655del (p.Lys216_Lys218del) | Skraban-Deardorff syndrome [RCV003989058] | uncertain significance | 1 | 224433751 | 224433759 | Human | 1 | name |
| 401798492 | CV2739289 | deletion | NM_001379403.1(WDR26):c.1540_1569del (p.Asn514_Asp523del) | not provided [RCV003318937] | uncertain significance | 1 | 224404460 | 224404489 | Human | | name |
| 401936785 | CV2816078 | microsatellite | NM_001379403.1(WDR26):c.339CGG[5] (p.Gly125_Gln126insGly) | not provided [RCV003414804] | likely benign | 1 | 224434055 | 224434056 | Human | | name |
| 401925952 | CV2796420 | duplication | NM_001379403.1(WDR26):c.351_353dup (p.Gly125_Gln126insGly) | WDR26-related disorder [RCV003405809] | uncertain significance | 1 | 224434052 | 224434053 | Human | | name , trait , alternate_id |
| 401936786 | CV2816079 | microsatellite | NM_001379403.1(WDR26):c.178TCC[10] (p.Ser67_Val68insSerSer) | not provided [RCV003414805] | likely benign | 1 | 224434204 | 224434205 | Human | | name |
| 13532323 | CV511231 | deletion | NM_001379403.1(WDR26):c.1925_1934del (p.Ala641_Leu642insTer) | Inborn genetic diseases [RCV000624089] | pathogenic | 1 | 224398525 | 224398534 | Human | 1 | name |
| 401936787 | CV2816080 | microsatellite | NM_001379403.1(WDR26):c.178TCC[11] (p.Ser67_Val68insSerSerSer) | not provided [RCV003414806] | benign|likely benign | 1 | 224434204 | 224434205 | Human | | name |
| 405708896 | CV3225511 | microsatellite | NM_001379403.1(WDR26):c.318AGG[9] (p.Gly125_Gln126insGlyGlyGly) | Skraban-Deardorff syndrome [RCV003990567] | uncertain significance | 1 | 224434070 | 224434071 | Human | | name |
| 25320166 | CV805207 | indel | NM_001379403.1(WDR26):c.1323_1324delinsTT (p.Arg441_Gln442delinsSerTer) | not provided [RCV001009141] | pathogenic | 1 | 224411561 | 224411562 | Human | | name |
| 401908198 | CV2801303 | indel | NM_001379403.1(WDR26):c.2246_2249delinsTTTGTATAATGTT (p.His749_Gln750delinsLeuCysIleMetLeu) | WDR26-related disorder [RCV003397544] | uncertain significance | 1 | 224393839 | 224393842 | Human | | name , trait , alternate_id |
