ClinVar Miner

List of variants studied for Desbuquois dysplasia

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 566
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022166.4(XYLT1):c.1989C>T (p.Ala663=) rs12708815 0.51842
NM_022166.4(XYLT1):c.2028-37A>C rs3812961 0.34884
NM_001159773.2(CANT1):c.159T>C (p.Ala53=) rs8077024 0.34524
NM_001159773.2(CANT1):c.-239A>G rs12949479 0.25147
NM_001159773.2(CANT1):c.*1440G>A rs4861 0.14246
NM_001159773.2(CANT1):c.-23+25G>A rs3744171 0.12298
NM_001159773.2(CANT1):c.*847C>T rs11891 0.12297
NM_022166.4(XYLT1):c.2675G>A (p.Arg892Gln) rs35309694 0.09774
NM_022166.4(XYLT1):c.2655C>T (p.Pro885=) rs924260 0.07855
NM_022166.4(XYLT1):c.2515G>A (p.Val839Ile) rs7200466 0.06145
NM_022166.4(XYLT1):c.2224-12C>T rs12325442 0.06125
NM_022166.4(XYLT1):c.668C>G (p.Ala223Gly) rs113276942 0.04995
NM_001159773.2(CANT1):c.1056C>T (p.Asn352=) rs3803781 0.03451
NM_001159773.2(CANT1):c.*964A>G rs75126416 0.03342
NM_001159773.2(CANT1):c.*664T>C rs79189369 0.03215
NM_001159773.2(CANT1):c.*671T>C rs114125762 0.03215
NM_001159773.2(CANT1):c.*829G>A rs115856545 0.02343
NM_022166.4(XYLT1):c.343G>T (p.Ala115Ser) rs61758388 0.01927
NM_022166.4(XYLT1):c.1077C>T (p.His359=) rs35488326 0.01851
NM_022166.4(XYLT1):c.913+9C>T rs79173410 0.01688
NM_022166.4(XYLT1):c.1994C>T (p.Thr665Met) rs79030430 0.01493
NM_001159773.2(CANT1):c.967G>A (p.Ala323Thr) rs9903215 0.01090
NM_001159773.2(CANT1):c.-153G>T rs531435158 0.00972
NM_001159773.2(CANT1):c.*1167G>A rs186436891 0.00916
NM_001159773.2(CANT1):c.*1093C>T rs8078860 0.00775
NM_022166.4(XYLT1):c.606A>G (p.Lys202=) rs114030556 0.00708
NM_022166.4(XYLT1):c.1743G>A (p.Pro581=) rs34653270 0.00640
NM_001159773.2(CANT1):c.*1149C>T rs114706748 0.00568
NM_001159773.2(CANT1):c.*1476G>A rs73999357 0.00503
NM_001159773.2(CANT1):c.*1376C>G rs139673784 0.00478
NM_001159773.2(CANT1):c.*696T>G rs149991908 0.00478
NM_001159773.2(CANT1):c.-96C>T rs143084065 0.00410
NM_022166.4(XYLT1):c.2370C>A (p.Val790=) rs74750647 0.00372
NM_001159773.2(CANT1):c.-202A>C rs377716176 0.00358
NM_022166.4(XYLT1):c.2226C>T (p.Val742=) rs139693964 0.00304
NM_022166.4(XYLT1):c.1154C>T (p.Pro385Leu) rs36098987 0.00293
NM_001159773.2(CANT1):c.1123A>T (p.Met375Leu) rs139486406 0.00273
NM_022166.4(XYLT1):c.421C>T (p.Arg141Trp) rs74993523 0.00273
NM_001159773.2(CANT1):c.1172G>A (p.Gly391Glu) rs34082669 0.00268
NM_022166.4(XYLT1):c.1848G>C (p.Leu616=) rs150301505 0.00258
NM_001159773.2(CANT1):c.194C>T (p.Ala65Val) rs200811852 0.00242
NM_022166.4(XYLT1):c.1854G>T (p.Gly618=) rs77836443 0.00230
NM_022166.4(XYLT1):c.363+18C>G rs367589791 0.00225
NM_022166.4(XYLT1):c.2028-15C>T rs150179077 0.00203
NM_022166.4(XYLT1):c.59C>T (p.Ala20Val) rs568899945 0.00191
NM_001159773.2(CANT1):c.198C>T (p.Pro66=) rs201935694 0.00185
NM_001159773.2(CANT1):c.56G>A (p.Arg19Gln) rs144060377 0.00151
NM_001159773.2(CANT1):c.*1794T>G rs192546263 0.00143
NM_022166.4(XYLT1):c.307G>A (p.Gly103Arg) rs370511358 0.00139
NM_022166.4(XYLT1):c.1588-3C>T rs201818754 0.00132
NM_001159773.2(CANT1):c.*89G>A rs146866436 0.00123
NM_001159773.2(CANT1):c.*157G>A rs117904862 0.00122
NM_001159773.2(CANT1):c.*1056T>C rs77565945 0.00109
NM_001159773.2(CANT1):c.-233C>T rs886053533 0.00106
NM_022166.4(XYLT1):c.154G>A (p.Gly52Ser) rs766521030 0.00093
NM_022166.4(XYLT1):c.1704C>T (p.Ile568=) rs139802880 0.00092
NM_022166.4(XYLT1):c.402+6T>C rs184623992 0.00092
NM_001159773.2(CANT1):c.*1412A>G rs190318927 0.00086
NM_022166.4(XYLT1):c.57C>T (p.Leu19=) rs539729561 0.00083
NM_022166.4(XYLT1):c.1765-3C>T rs192023037 0.00073
NM_022166.4(XYLT1):c.1841A>G (p.Tyr614Cys) rs137935662 0.00068
NM_022166.4(XYLT1):c.2007G>A (p.Thr669=) rs150492983 0.00067
NM_022166.4(XYLT1):c.1742C>T (p.Pro581Leu) rs146414934 0.00061
NM_022166.4(XYLT1):c.1299C>A (p.Asp433Glu) rs147074504 0.00057
NM_022166.4(XYLT1):c.2296C>G (p.Pro766Ala) rs12325439 0.00051
NM_022166.4(XYLT1):c.2502G>C (p.Glu834Asp) rs145244421 0.00051
NM_022166.4(XYLT1):c.188C>G (p.Pro63Arg) rs1028782929 0.00047
NM_022166.4(XYLT1):c.1918G>A (p.Gly640Ser) rs146288199 0.00046
NM_022166.4(XYLT1):c.2338G>A (p.Val780Met) rs181524912 0.00044
NM_022166.4(XYLT1):c.1905C>T (p.Tyr635=) rs139156211 0.00043
NM_022166.4(XYLT1):c.425C>T (p.Pro142Leu) rs143159780 0.00043
NM_001159773.2(CANT1):c.*1732T>C rs184171534 0.00041
NM_022166.4(XYLT1):c.1764+3G>A rs147978944 0.00033
NM_001159773.2(CANT1):c.147C>T (p.Phe49=) rs371500993 0.00031
NM_022166.4(XYLT1):c.1272G>A (p.Ala424=) rs144531370 0.00031
NM_022166.4(XYLT1):c.2555C>G (p.Pro852Arg) rs147284278 0.00030
NM_001159773.2(CANT1):c.-22-34C>G rs886053528 0.00029
NM_001159773.2(CANT1):c.433G>T (p.Val145Leu) rs140112462 0.00029
NM_022166.4(XYLT1):c.2557+16G>T rs201594594 0.00029
NM_022166.4(XYLT1):c.1930C>A (p.Leu644Met) rs754790920 0.00026
NM_022166.4(XYLT1):c.2694G>A (p.Thr898=) rs141353269 0.00026
NM_022166.4(XYLT1):c.657C>T (p.Pro219=) rs146043560 0.00026
NM_022166.4(XYLT1):c.2358T>C (p.Asp786=) rs145615486 0.00024
NM_022166.4(XYLT1):c.1358G>A (p.Arg453Gln) rs141079587 0.00023
NM_022166.4(XYLT1):c.1807G>A (p.Val603Met) rs187270026 0.00022
NM_001159773.2(CANT1):c.*1153C>T rs1027724116 0.00021
NM_001159773.2(CANT1):c.513T>G (p.Ile171Met) rs201181440 0.00021
NM_022166.4(XYLT1):c.1756C>T (p.Arg586Cys) rs139179946 0.00021
NM_022166.4(XYLT1):c.694G>C (p.Asp232His) rs150214300 0.00021
NM_001159773.2(CANT1):c.*876G>A rs551101097 0.00019
NM_022166.4(XYLT1):c.1227G>A (p.Leu409=) rs142693909 0.00019
NM_022166.4(XYLT1):c.2656G>T (p.Ala886Ser) rs143481827 0.00019
NM_001159773.2(CANT1):c.1152G>C (p.Leu384=) rs145794847 0.00017
NM_022166.4(XYLT1):c.951C>T (p.Ser317=) rs145318002 0.00017
NM_001159773.2(CANT1):c.-146-15C>T rs886053531 0.00016
NM_022166.4(XYLT1):c.1087-18T>C rs377281740 0.00016
NM_022166.4(XYLT1):c.1413C>T (p.Cys471=) rs372067770 0.00016
NM_022166.4(XYLT1):c.246A>C (p.Gly82=) rs1324469444 0.00016
NM_001159773.2(CANT1):c.-23+39G>A rs886053529 0.00015
NM_022166.4(XYLT1):c.440G>A (p.Arg147Gln) rs150531859 0.00015
NM_022166.4(XYLT1):c.546G>A (p.Ala182=) rs144423897 0.00015
NM_001159773.2(CANT1):c.*301C>T rs576222698 0.00013
NM_022166.4(XYLT1):c.1252T>A (p.Phe418Ile) rs574064641 0.00013
NM_022166.4(XYLT1):c.1615A>G (p.Ser539Gly) rs200053698 0.00013
NM_022166.4(XYLT1):c.2081G>A (p.Arg694His) rs201045664 0.00013
NM_001159773.2(CANT1):c.*352G>A rs766546218 0.00012
NM_001159773.2(CANT1):c.835+6A>G rs375082589 0.00012
NM_022166.4(XYLT1):c.1311G>A (p.Ala437=) rs201354548 0.00012
NM_022166.4(XYLT1):c.1917C>T (p.Asp639=) rs769324855 0.00012
NM_001159773.2(CANT1):c.*1032G>T rs139951975 0.00011
NM_001159773.2(CANT1):c.-23+94T>G rs867691817 0.00011
NM_022166.4(XYLT1):c.1044C>T (p.Ala348=) rs372015293 0.00011
NM_022166.4(XYLT1):c.974C>T (p.Pro325Leu) rs139070566 0.00011
NM_001159773.2(CANT1):c.*919C>G rs777105575 0.00010
NM_022166.4(XYLT1):c.1289+13A>G rs759329282 0.00010
NM_022166.4(XYLT1):c.1717G>A (p.Gly573Ser) rs147101412 0.00010
NM_022166.4(XYLT1):c.173C>T (p.Pro58Leu) rs984714850 0.00010
NM_022166.4(XYLT1):c.2561A>C (p.Glu854Ala) rs199588257 0.00010
NM_022166.4(XYLT1):c.364-6C>T rs374328092 0.00010
NM_022166.4(XYLT1):c.731G>C (p.Gly244Ala) rs199643996 0.00010
NM_001159773.2(CANT1):c.*174G>A rs544997912 0.00009
NM_001159773.2(CANT1):c.*57G>A rs886053525 0.00009
NM_001159773.2(CANT1):c.735G>A (p.Pro245=) rs138754148 0.00009
NM_022166.4(XYLT1):c.2224-9_2224-8del rs765782913 0.00009
NM_022166.4(XYLT1):c.258A>C (p.Gly86=) rs1354379384 0.00009
NM_022166.4(XYLT1):c.287G>C (p.Arg96Pro) rs1037051580 0.00009
NM_022166.4(XYLT1):c.41C>T (p.Ser14Leu) rs558470371 0.00009
NM_022166.4(XYLT1):c.1686G>A (p.Lys562=) rs143303539 0.00008
NM_022166.4(XYLT1):c.2344G>A (p.Val782Ile) rs778581218 0.00008
NM_022166.4(XYLT1):c.126C>T (p.Ala42=) rs1359623297 0.00007
NM_022166.4(XYLT1):c.139G>C (p.Gly47Arg) rs760732431 0.00007
NM_022166.4(XYLT1):c.1602G>A (p.Thr534=) rs138560456 0.00007
NM_022166.4(XYLT1):c.2430C>T (p.Pro810=) rs550125219 0.00007
NM_022166.4(XYLT1):c.2784G>A (p.Pro928=) rs150334363 0.00007
NM_022166.4(XYLT1):c.541T>C (p.Leu181=) rs148434592 0.00007
NM_022166.4(XYLT1):c.707C>T (p.Pro236Leu) rs140976278 0.00007
NM_001159773.2(CANT1):c.*748T>A rs748455061 0.00006
NM_001159773.2(CANT1):c.1112C>T (p.Ala371Val) rs372631124 0.00006
NM_001159773.2(CANT1):c.228dup (p.Trp77fs) rs587776896 0.00006
NM_001159773.2(CANT1):c.277_278del (p.Leu93fs) rs587776897 0.00006
NM_001159773.2(CANT1):c.556G>A (p.Val186Ile) rs199516699 0.00006
NM_022166.4(XYLT1):c.1032C>T (p.Arg344=) rs753990263 0.00006
NM_022166.4(XYLT1):c.1626C>T (p.Cys542=) rs377097003 0.00006
NM_022166.4(XYLT1):c.1629C>T (p.Asp543=) rs772951019 0.00006
NM_022166.4(XYLT1):c.1764+4A>G rs757836390 0.00006
NM_022166.4(XYLT1):c.1813A>T (p.Asn605Tyr) rs770446499 0.00006
NM_022166.4(XYLT1):c.1985G>A (p.Arg662Gln) rs190383164 0.00006
NM_022166.4(XYLT1):c.2442G>T (p.Leu814Phe) rs199727985 0.00006
NM_022166.4(XYLT1):c.2520G>A (p.Ala840=) rs374874388 0.00006
NM_022166.4(XYLT1):c.2809G>A (p.Ala937Thr) rs780303292 0.00006
NM_022166.4(XYLT1):c.358G>A (p.Ala120Thr) rs769122570 0.00006
NM_001159773.2(CANT1):c.*445G>A rs149131650 0.00005
NM_001159773.2(CANT1):c.119G>A (p.Arg40His) rs375819727 0.00005
NM_001159773.2(CANT1):c.969C>T (p.Ala323=) rs751735028 0.00005
NM_022166.4(XYLT1):c.1216C>T (p.Arg406Trp) rs201009902 0.00005
NM_022166.4(XYLT1):c.1716C>T (p.Cys572=) rs765001631 0.00005
NM_022166.4(XYLT1):c.1826T>C (p.Ile609Thr) rs141257295 0.00005
NM_022166.4(XYLT1):c.2870G>A (p.Arg957Gln) rs765703210 0.00005
NM_001159773.2(CANT1):c.-23+7A>G rs1332415937 0.00004
NM_001159773.2(CANT1):c.552G>A (p.Thr184=) rs762438787 0.00004
NM_001159773.2(CANT1):c.671T>C (p.Leu224Pro) rs150181226 0.00004
NM_001159773.2(CANT1):c.676G>A (p.Val226Met) rs377546036 0.00004
NM_001159773.2(CANT1):c.819C>T (p.Ala273=) rs571979064 0.00004
NM_022166.4(XYLT1):c.1953G>A (p.Leu651=) rs759912114 0.00004
NM_022166.4(XYLT1):c.1990G>A (p.Glu664Lys) rs573652692 0.00004
NM_022166.4(XYLT1):c.2504C>T (p.Thr835Ile) rs372741635 0.00004
NM_022166.4(XYLT1):c.534G>T (p.Gln178His) rs142578304 0.00004
NM_022166.4(XYLT1):c.711T>A (p.Pro237=) rs148118242 0.00004
NM_022166.4(XYLT1):c.735C>T (p.Ser245=) rs143634894 0.00004
NM_022166.4(XYLT1):c.811G>A (p.Ala271Thr) rs183356442 0.00004
NM_022166.4(XYLT1):c.930C>T (p.Asn310=) rs372400180 0.00004
NM_001159773.2(CANT1):c.125G>A (p.Arg42His) rs886053526 0.00003
NM_001159773.2(CANT1):c.246G>A (p.Ala82=) rs567995164 0.00003
NM_001159773.2(CANT1):c.551C>T (p.Thr184Met) rs770371904 0.00003
NM_001159773.2(CANT1):c.830C>T (p.Pro277Leu) rs774920895 0.00003
NM_001159773.2(CANT1):c.948C>T (p.Gly316=) rs556238561 0.00003
NM_022166.4(XYLT1):c.1211G>A (p.Ser404Asn) rs146025263 0.00003
NM_022166.4(XYLT1):c.1370+5C>T rs372104324 0.00003
NM_022166.4(XYLT1):c.1533C>T (p.Asp511=) rs760198193 0.00003
NM_022166.4(XYLT1):c.1588T>G (p.Ser530Ala) rs148992515 0.00003
NM_022166.4(XYLT1):c.1730A>G (p.Asn577Ser) rs368060072 0.00003
NM_022166.4(XYLT1):c.1763A>G (p.Gln588Arg) rs556515927 0.00003
NM_022166.4(XYLT1):c.1938C>T (p.Asp646=) rs377015583 0.00003
NM_022166.4(XYLT1):c.2004C>T (p.His668=) rs568660663 0.00003
NM_022166.4(XYLT1):c.2028-14G>A rs762165484 0.00003
NM_022166.4(XYLT1):c.2163G>A (p.Pro721=) rs759198989 0.00003
NM_022166.4(XYLT1):c.2298G>A (p.Pro766=) rs146457574 0.00003
NM_022166.4(XYLT1):c.262G>A (p.Gly88Arg) rs1251643007 0.00003
NM_022166.4(XYLT1):c.264A>T (p.Gly88=) rs1056637053 0.00003
NM_022166.4(XYLT1):c.2693C>T (p.Thr898Met) rs368097793 0.00003
NM_022166.4(XYLT1):c.2783C>T (p.Pro928Leu) rs909102121 0.00003
NM_022166.4(XYLT1):c.2807C>T (p.Thr936Met) rs768752782 0.00003
NM_022166.4(XYLT1):c.558G>A (p.Pro186=) rs538937903 0.00003
NM_022166.4(XYLT1):c.670G>A (p.Ala224Thr) rs534156689 0.00003
NM_022166.4(XYLT1):c.1140T>C (p.Asn380=) rs1041058225 0.00002
NM_022166.4(XYLT1):c.1217G>A (p.Arg406Gln) rs1457612277 0.00002
NM_022166.4(XYLT1):c.1237G>A (p.Asp413Asn) rs774302454 0.00002
NM_022166.4(XYLT1):c.1259T>C (p.Ile420Thr) rs747349926 0.00002
NM_022166.4(XYLT1):c.1445G>A (p.Arg482Gln) rs571451998 0.00002
NM_022166.4(XYLT1):c.1590C>T (p.Ser530=) rs754108822 0.00002
NM_022166.4(XYLT1):c.1627G>A (p.Asp543Asn) rs551025574 0.00002
NM_022166.4(XYLT1):c.1633A>G (p.Met545Val) rs747718750 0.00002
NM_022166.4(XYLT1):c.1764+11C>G rs188563835 0.00002
NM_022166.4(XYLT1):c.179C>T (p.Ala60Val) rs1294077633 0.00002
NM_022166.4(XYLT1):c.1936G>A (p.Asp646Asn) rs750411891 0.00002
NM_022166.4(XYLT1):c.2117A>G (p.Asn706Ser) rs779078093 0.00002
NM_022166.4(XYLT1):c.2223+10C>T rs750355184 0.00002
NM_022166.4(XYLT1):c.2378C>T (p.Ala793Val) rs369216955 0.00002
NM_022166.4(XYLT1):c.2669A>G (p.Gln890Arg) rs1321384222 0.00002
NM_022166.4(XYLT1):c.2690C>T (p.Ser897Phe) rs776112557 0.00002
NM_022166.4(XYLT1):c.389C>T (p.Thr130Ile) rs374229842 0.00002
NM_022166.4(XYLT1):c.434A>C (p.Lys145Thr) rs760513040 0.00002
NM_022166.4(XYLT1):c.708G>A (p.Pro236=) rs570061438 0.00002
NM_022166.4(XYLT1):c.93C>T (p.Val31=) rs1347219754 0.00002
NM_001159773.2(CANT1):c.*1050C>T rs1461824358 0.00001
NM_001159773.2(CANT1):c.*1479C>A rs886053520 0.00001
NM_001159773.2(CANT1):c.*1484C>A rs886053519 0.00001
NM_001159773.2(CANT1):c.*223C>T rs886053524 0.00001
NM_001159773.2(CANT1):c.-147+1G>A rs587776951 0.00001
NM_001159773.2(CANT1):c.61A>G (p.Ser21Gly) rs886053527 0.00001
NM_001159773.2(CANT1):c.643G>T (p.Glu215Ter) rs773215035 0.00001
NM_001159773.2(CANT1):c.734C>T (p.Pro245Leu) rs761853610 0.00001
NM_001159773.2(CANT1):c.809G>A (p.Arg270Gln) rs764240311 0.00001
NM_001159773.2(CANT1):c.836-9G>A rs538543007 0.00001
NM_001159773.2(CANT1):c.896C>T (p.Pro299Leu) rs267606700 0.00001
NM_001159773.2(CANT1):c.898C>T (p.Arg300Cys) rs267606701 0.00001
NM_001159773.2(CANT1):c.899G>A (p.Arg300His) rs267606699 0.00001
NM_001159773.2(CANT1):c.916C>T (p.Arg306Cys) rs569632479 0.00001
NM_022166.4(XYLT1):c.1006G>A (p.Gly336Ser) rs748903122 0.00001
NM_022166.4(XYLT1):c.1086+4A>G rs368086323 0.00001
NM_022166.4(XYLT1):c.1088G>A (p.Arg363His) rs750025305 0.00001
NM_022166.4(XYLT1):c.1129C>G (p.Gln377Glu) rs530487081 0.00001
NM_022166.4(XYLT1):c.1191C>G (p.Leu397=) rs372491262 0.00001
NM_022166.4(XYLT1):c.1225C>T (p.Leu409=) rs1236568384 0.00001
NM_022166.4(XYLT1):c.1229A>T (p.Glu410Val) rs759418934 0.00001
NM_022166.4(XYLT1):c.1276G>A (p.Asp426Asn) rs1193112792 0.00001
NM_022166.4(XYLT1):c.1290-6C>T rs1019625581 0.00001
NM_022166.4(XYLT1):c.1310C>T (p.Ala437Val) rs192917273 0.00001
NM_022166.4(XYLT1):c.1321C>T (p.Arg441Ter) rs1164720535 0.00001
NM_022166.4(XYLT1):c.1353C>T (p.His451=) rs200531572 0.00001
NM_022166.4(XYLT1):c.1371-5C>T rs779582063 0.00001
NM_022166.4(XYLT1):c.1474G>A (p.Gly492Ser) rs1395692976 0.00001
NM_022166.4(XYLT1):c.1479G>A (p.Ser493=) rs758599112 0.00001
NM_022166.4(XYLT1):c.153C>T (p.Val51=) rs1359545259 0.00001
NM_022166.4(XYLT1):c.1547A>G (p.Lys516Arg) rs200026293 0.00001
NM_022166.4(XYLT1):c.1638G>A (p.Val546=) rs2030849015 0.00001
NM_022166.4(XYLT1):c.1651C>T (p.Arg551Cys) rs776422861 0.00001
NM_022166.4(XYLT1):c.1747G>A (p.Asp583Asn) rs770094750 0.00001
NM_022166.4(XYLT1):c.1764+19C>T rs915382546 0.00001
NM_022166.4(XYLT1):c.1792C>T (p.Arg598Cys) rs587777367 0.00001
NM_022166.4(XYLT1):c.182C>G (p.Pro61Arg) rs953238937 0.00001
NM_022166.4(XYLT1):c.1875G>A (p.Pro625=) rs182016158 0.00001
NM_022166.4(XYLT1):c.18C>G (p.Cys6Trp) rs1028730751 0.00001
NM_022166.4(XYLT1):c.1935C>T (p.Ser645=) rs543473631 0.00001
NM_022166.4(XYLT1):c.1939G>A (p.Val647Met) rs756272760 0.00001
NM_022166.4(XYLT1):c.1970G>A (p.Arg657His) rs748655641 0.00001
NM_022166.4(XYLT1):c.1982G>A (p.Arg661Gln) rs1275156523 0.00001
NM_022166.4(XYLT1):c.1995G>A (p.Thr665=) rs779046536 0.00001
NM_022166.4(XYLT1):c.2088G>T (p.Gln696His) rs1459705274 0.00001
NM_022166.4(XYLT1):c.2129G>A (p.Ser710Asn) rs1174079303 0.00001
NM_022166.4(XYLT1):c.213C>T (p.Pro71=) rs999574381 0.00001
NM_022166.4(XYLT1):c.2223+6A>C rs757535848 0.00001
NM_022166.4(XYLT1):c.2224-7G>C rs2029906214 0.00001
NM_022166.4(XYLT1):c.2260C>T (p.Arg754Cys) rs374020411 0.00001
NM_022166.4(XYLT1):c.2337C>A (p.Thr779=) rs779548774 0.00001
NM_022166.4(XYLT1):c.2465C>G (p.Thr822Arg) rs781285104 0.00001
NM_022166.4(XYLT1):c.2467G>A (p.Val823Met) rs767395762 0.00001
NM_022166.4(XYLT1):c.2619G>C (p.Gln873His) rs1378456649 0.00001
NM_022166.4(XYLT1):c.2665G>C (p.Glu889Gln) rs752844900 0.00001
NM_022166.4(XYLT1):c.2766G>C (p.Thr922=) rs371058087 0.00001
NM_022166.4(XYLT1):c.2806A>T (p.Thr936Ser) rs1348422483 0.00001
NM_022166.4(XYLT1):c.2865T>C (p.Asp955=) rs1444261356 0.00001
NM_022166.4(XYLT1):c.353C>T (p.Ala118Val) rs1229787594 0.00001
NM_022166.4(XYLT1):c.359C>T (p.Ala120Val) rs1187139126 0.00001
NM_022166.4(XYLT1):c.402+15T>C rs937484990 0.00001
NM_022166.4(XYLT1):c.416C>T (p.Ser139Phe) rs1251084213 0.00001
NM_022166.4(XYLT1):c.439C>T (p.Arg147Ter) rs587777368 0.00001
NM_022166.4(XYLT1):c.47C>T (p.Ser16Leu) rs1052524950 0.00001
NM_022166.4(XYLT1):c.508C>T (p.Pro170Ser) rs1284737489 0.00001
NM_022166.4(XYLT1):c.617A>G (p.His206Arg) rs1422772803 0.00001
NM_022166.4(XYLT1):c.624C>T (p.Phe208=) rs372923585 0.00001
NM_022166.4(XYLT1):c.689G>A (p.Gly230Glu) rs746038429 0.00001
NM_022166.4(XYLT1):c.72G>C (p.Val24=) rs753722258 0.00001
NM_022166.4(XYLT1):c.746C>A (p.Thr249Asn) rs761858019 0.00001
NM_022166.4(XYLT1):c.750G>A (p.Lys250=) rs767664625 0.00001
NM_022166.4(XYLT1):c.793A>G (p.Ile265Val) rs770182325 0.00001
NM_022166.4(XYLT1):c.807C>T (p.Ser269=) rs779671035 0.00001
NM_022166.4(XYLT1):c.848C>G (p.Thr283Ser) rs763286849 0.00001
NM_022166.4(XYLT1):c.88C>G (p.Leu30Val) rs948173236 0.00001
NM_022166.4(XYLT1):c.914-18C>A rs149428198 0.00001
NM_022166.4(XYLT1):c.94G>A (p.Val32Met) rs1301420949 0.00001
NM_022166.4(XYLT1):c.984C>T (p.Ile328=) rs776003531 0.00001
5'UTR-exon 1 deletion (2703 bp)
NC_000016.10:g.(?_17108675)_(17470816_?)del
NC_000016.9:g.(?_15758636)_(17564653_?)del
NC_000016.9:g.(?_15758636)_(17564653_?)dup
NC_000016.9:g.(?_17202552)_(17451927_?)dup
NC_000016.9:g.(?_17451859)_(17451917_?)del
NC_000016.9:g.(?_17564281)_(17564653_?)del
NM_001159773.2(CANT1):c.*119G>A rs2070902561
NM_001159773.2(CANT1):c.*1264_*1265dup rs886053521
NM_001159773.2(CANT1):c.*1359C>T rs992643827
NM_001159773.2(CANT1):c.*1424GAAG[1] rs567566510
NM_001159773.2(CANT1):c.*163C>G rs529224814
NM_001159773.2(CANT1):c.*1731C>T rs2070850838
NM_001159773.2(CANT1):c.*24G>A rs760356756
NM_001159773.2(CANT1):c.*374C>T rs560554427
NM_001159773.2(CANT1):c.*450A>G rs886053523
NM_001159773.2(CANT1):c.*550A>C rs886053522
NM_001159773.2(CANT1):c.*569C>T rs2070889534
NM_001159773.2(CANT1):c.*570G>A rs8079368
NM_001159773.2(CANT1):c.*753C>A rs745568057
NM_001159773.2(CANT1):c.*781C>A rs764123397
NM_001159773.2(CANT1):c.*813G>C rs535754990
NM_001159773.2(CANT1):c.*837C>T rs781025439
NM_001159773.2(CANT1):c.*998G>C rs78037898
NM_001159773.2(CANT1):c.*998G>T rs78037898
NM_001159773.2(CANT1):c.-127C>A rs868277630
NM_001159773.2(CANT1):c.-164G>A rs886053532
NM_001159773.2(CANT1):c.-23+60A>G rs2071093869
NM_001159773.2(CANT1):c.-23+79T>C rs548338706
NM_001159773.2(CANT1):c.-81G>A rs886053530
NM_001159773.2(CANT1):c.1079C>A (p.Ala360Asp) rs387907081
NM_001159773.2(CANT1):c.187C>A (p.Arg63Ser) rs760657405
NM_001159773.2(CANT1):c.250G>C (p.Ala84Pro) rs767659113
NM_001159773.2(CANT1):c.266A>T (p.Asp89Val) rs773784258
NM_001159773.2(CANT1):c.287C>T (p.Pro96Leu) rs375718883
NM_001159773.2(CANT1):c.374G>A (p.Trp125Ter) rs267606702
NM_001159773.2(CANT1):c.375G>C (p.Trp125Cys) rs587776898
NM_001159773.2(CANT1):c.54C>T (p.Leu18=) rs2071085962
NM_001159773.2(CANT1):c.570C>T (p.Ile190=) rs376733332
NM_001159773.2(CANT1):c.627G>T (p.Glu209Asp) rs2071055518
NM_001159773.2(CANT1):c.631+11C>A rs2145839791
NM_001159773.2(CANT1):c.643G>A (p.Glu215Lys) rs773215035
NM_001159773.2(CANT1):c.702G>A (p.Thr234=) rs1023756732
NM_001159773.2(CANT1):c.734del (p.Pro245fs) rs587776509
NM_001159773.2(CANT1):c.780G>T (p.Glu260Asp) rs1438123632
NM_001159773.2(CANT1):c.835+10G>C rs779296231
NM_001159773.2(CANT1):c.902_906dup (p.Ser303fs) rs587776895
NM_001159773.2(CANT1):c.909_910insGCCGC (p.Gln304fs) rs587776510
NM_022166.4(XYLT1):c.-110_280del (p.Met1_Gln94del)
NM_022166.4(XYLT1):c.1008C>T (p.Gly336=)
NM_022166.4(XYLT1):c.1011T>A (p.Arg337=)
NM_022166.4(XYLT1):c.1028A>G (p.Gln343Arg)
NM_022166.4(XYLT1):c.1033A>C (p.Met345Leu)
NM_022166.4(XYLT1):c.1074C>A (p.Ile358=)
NM_022166.4(XYLT1):c.1086+44G>A rs11075341
NM_022166.4(XYLT1):c.1086+9C>G
NM_022166.4(XYLT1):c.1087-14_1087-11del rs1449577336
NM_022166.4(XYLT1):c.1100T>A (p.Leu367Gln)
NM_022166.4(XYLT1):c.1145G>A (p.Arg382His)
NM_022166.4(XYLT1):c.114C>G (p.Leu38=) rs1367326593
NM_022166.4(XYLT1):c.1218G>A (p.Arg406=)
NM_022166.4(XYLT1):c.121G>C (p.Gly41Arg)
NM_022166.4(XYLT1):c.1221C>T (p.Asp407=)
NM_022166.4(XYLT1):c.1224C>T (p.Leu408=)
NM_022166.4(XYLT1):c.1236C>T (p.Thr412=)
NM_022166.4(XYLT1):c.1271C>T (p.Ala424Val)
NM_022166.4(XYLT1):c.1272G>T (p.Ala424=)
NM_022166.4(XYLT1):c.1275C>T (p.Ala425=)
NM_022166.4(XYLT1):c.1284C>A (p.Pro428=)
NM_022166.4(XYLT1):c.1284C>G (p.Pro428=) rs28709752
NM_022166.4(XYLT1):c.1290-1G>A rs1567300982
NM_022166.4(XYLT1):c.1290-2A>C rs587777370
NM_022166.4(XYLT1):c.130G>A (p.Glu44Lys) rs2141970457
NM_022166.4(XYLT1):c.1322G>A (p.Arg441Gln)
NM_022166.4(XYLT1):c.1371-15C>G
NM_022166.4(XYLT1):c.1371-8C>T
NM_022166.4(XYLT1):c.1416C>G (p.Asp472Glu) rs371420301
NM_022166.4(XYLT1):c.1416C>T (p.Asp472=) rs371420301
NM_022166.4(XYLT1):c.1429C>T (p.Arg477Cys) rs1180844430
NM_022166.4(XYLT1):c.143G>T (p.Gly48Val)
NM_022166.4(XYLT1):c.1441C>T (p.Arg481Trp) rs587777366
NM_022166.4(XYLT1):c.1464C>T (p.Ala488=)
NM_022166.4(XYLT1):c.1478C>T (p.Ser493Leu)
NM_022166.4(XYLT1):c.1510G>T (p.Glu504Ter)
NM_022166.4(XYLT1):c.1518G>A (p.Val506=) rs1256776514
NM_022166.4(XYLT1):c.1520C>A (p.Thr507Asn) rs1290402731
NM_022166.4(XYLT1):c.152T>C (p.Val51Ala) rs865812042
NM_022166.4(XYLT1):c.1530A>G (p.Thr510=)
NM_022166.4(XYLT1):c.1534G>T (p.Asp512Tyr) rs561119865
NM_022166.4(XYLT1):c.1587+8T>A
NM_022166.4(XYLT1):c.1588-15C>G
NM_022166.4(XYLT1):c.1588-28_1588-3dup rs545474455
NM_022166.4(XYLT1):c.1588-35_1588-19del rs762567877
NM_022166.4(XYLT1):c.1588-9C>A rs772084738
NM_022166.4(XYLT1):c.1588-9C>T
NM_022166.4(XYLT1):c.15G>T (p.Pro5=)
NM_022166.4(XYLT1):c.1601C>T (p.Thr534Met)
NM_022166.4(XYLT1):c.1606C>T (p.Leu536=)
NM_022166.4(XYLT1):c.161G>A (p.Gly54Glu) rs2036977208
NM_022166.4(XYLT1):c.1621C>T (p.His541Tyr)
NM_022166.4(XYLT1):c.1652G>A (p.Arg551His)
NM_022166.4(XYLT1):c.1659C>T (p.Thr553=)
NM_022166.4(XYLT1):c.1669C>T (p.Arg557Cys) rs2141515545
NM_022166.4(XYLT1):c.1677G>A (p.Leu559=)
NM_022166.4(XYLT1):c.1730_1733dup (p.Asp578delinsGluTer) rs1085307563
NM_022166.4(XYLT1):c.1734C>T (p.Asp578=)
NM_022166.4(XYLT1):c.1764+13C>T
NM_022166.4(XYLT1):c.1764+9_1764+10dup
NM_022166.4(XYLT1):c.1765-14T>A
NM_022166.4(XYLT1):c.1765-15A>C
NM_022166.4(XYLT1):c.1765-8G>A
NM_022166.4(XYLT1):c.176C>A (p.Pro59Gln)
NM_022166.4(XYLT1):c.178G>A (p.Ala60Thr)
NM_022166.4(XYLT1):c.178GCCCCG[3] (p.60AP[3]) rs965735566
NM_022166.4(XYLT1):c.1793G>A (p.Arg598His)
NM_022166.4(XYLT1):c.1806C>T (p.Ala602=)
NM_022166.4(XYLT1):c.183G>A (p.Pro61=)
NM_022166.4(XYLT1):c.1852G>A (p.Gly618Arg)
NM_022166.4(XYLT1):c.1883G>A (p.Arg628His)
NM_022166.4(XYLT1):c.1952T>G (p.Leu651Trp)
NM_022166.4(XYLT1):c.195G>C (p.Arg65=)
NM_022166.4(XYLT1):c.197A>T (p.Glu66Val)
NM_022166.4(XYLT1):c.1985G>T (p.Arg662Leu)
NM_022166.4(XYLT1):c.200_208dup (p.Arg67_Asp69dup) rs2036975094
NM_022166.4(XYLT1):c.2026C>T (p.Arg676Ter)
NM_022166.4(XYLT1):c.2027+20C>T
NM_022166.4(XYLT1):c.2027G>A (p.Arg676Gln)
NM_022166.4(XYLT1):c.2028-16G>C
NM_022166.4(XYLT1):c.2028-16dup
NM_022166.4(XYLT1):c.2038A>G (p.Met680Val)
NM_022166.4(XYLT1):c.2047C>A (p.Pro683Thr)
NM_022166.4(XYLT1):c.2050G>A (p.Ala684Thr)
NM_022166.4(XYLT1):c.2069T>C (p.Phe690Ser) rs2141496310
NM_022166.4(XYLT1):c.2071C>G (p.Leu691Val)
NM_022166.4(XYLT1):c.2080C>T (p.Arg694Cys)
NM_022166.4(XYLT1):c.2098A>G (p.Ile700Val)
NM_022166.4(XYLT1):c.2105A>T (p.His702Leu)
NM_022166.4(XYLT1):c.2127G>C (p.Val709=) rs1597137187
NM_022166.4(XYLT1):c.2145G>A (p.Leu715=)
NM_022166.4(XYLT1):c.2159T>C (p.Met720Thr)
NM_022166.4(XYLT1):c.2162C>A (p.Pro721Gln) rs767151460
NM_022166.4(XYLT1):c.2169A>T (p.Lys723Asn)
NM_022166.4(XYLT1):c.2181C>T (p.Ile727=)
NM_022166.4(XYLT1):c.2192C>G (p.Pro731Arg)
NM_022166.4(XYLT1):c.2209C>A (p.Leu737Ile) rs1388039038
NM_022166.4(XYLT1):c.2220C>T (p.Ser740=)
NM_022166.4(XYLT1):c.2223+11A>G
NM_022166.4(XYLT1):c.2223+12G>C
NM_022166.4(XYLT1):c.2223+17T>A
NM_022166.4(XYLT1):c.2224-4T>A rs749488472
NM_022166.4(XYLT1):c.2224-4T>C
NM_022166.4(XYLT1):c.2267T>G (p.Phe756Cys)
NM_022166.4(XYLT1):c.2272G>C (p.Gly758Arg)
NM_022166.4(XYLT1):c.228A>G (p.Ala76=) rs904119368
NM_022166.4(XYLT1):c.228A>T (p.Ala76=)
NM_022166.4(XYLT1):c.22C>G (p.Arg8Gly)
NM_022166.4(XYLT1):c.2306T>C (p.Met769Thr) rs2029899993
NM_022166.4(XYLT1):c.2319G>A (p.Gly773=)
NM_022166.4(XYLT1):c.2322G>A (p.Lys774=)
NM_022166.4(XYLT1):c.2331T>C (p.Asn777=) rs7201590
NM_022166.4(XYLT1):c.2337C>T (p.Thr779=)
NM_022166.4(XYLT1):c.234AGG[6] (p.Gly90dup) rs559215248
NM_022166.4(XYLT1):c.2385C>T (p.Tyr795=)
NM_022166.4(XYLT1):c.2409C>T (p.Ala803=)
NM_022166.4(XYLT1):c.2417C>A (p.Thr806Lys) rs1338243795
NM_022166.4(XYLT1):c.2418A>G (p.Thr806=)
NM_022166.4(XYLT1):c.2421C>T (p.His807=)
NM_022166.4(XYLT1):c.2424C>T (p.Tyr808=)
NM_022166.4(XYLT1):c.2425A>G (p.Lys809Glu)
NM_022166.4(XYLT1):c.2457G>T (p.Gly819=) rs2141484223
NM_022166.4(XYLT1):c.2462G>A (p.Trp821Ter)
NM_022166.4(XYLT1):c.2466A>G (p.Thr822=) rs2141484206
NM_022166.4(XYLT1):c.2481C>T (p.His827=)
NM_022166.4(XYLT1):c.249_269del (p.Gly84_Gly90del)
NM_022166.4(XYLT1):c.2519C>A (p.Ala840Glu)
NM_022166.4(XYLT1):c.2535G>C (p.Ser845=) rs746392043
NM_022166.4(XYLT1):c.2545C>T (p.Pro849Ser)
NM_022166.4(XYLT1):c.2549T>C (p.Ile850Thr)
NM_022166.4(XYLT1):c.2557+20A>G
NM_022166.4(XYLT1):c.2557+8C>A
NM_022166.4(XYLT1):c.2557G>C (p.Glu853Gln) rs200659049
NM_022166.4(XYLT1):c.2558-18G>A rs564847916
NM_022166.4(XYLT1):c.2558-6T>C
NM_022166.4(XYLT1):c.255C>A (p.Gly85=) rs1414998054
NM_022166.4(XYLT1):c.2560G>A (p.Glu854Lys) rs769391314
NM_022166.4(XYLT1):c.2566C>A (p.Leu856Met)
NM_022166.4(XYLT1):c.2566C>T (p.Leu856=)
NM_022166.4(XYLT1):c.256GGA[7] (p.Gly89_Gly90dup) rs748140156
NM_022166.4(XYLT1):c.2607G>A (p.Glu869=)
NM_022166.4(XYLT1):c.2631C>T (p.Pro877=) rs34511974
NM_022166.4(XYLT1):c.2632G>A (p.Val878Ile)
NM_022166.4(XYLT1):c.2639G>C (p.Ser880Thr)
NM_022166.4(XYLT1):c.2640C>T (p.Ser880=)
NM_022166.4(XYLT1):c.2674C>T (p.Arg892Trp)
NM_022166.4(XYLT1):c.2682C>T (p.Asn894=)
NM_022166.4(XYLT1):c.2703G>A (p.Ala901=)
NM_022166.4(XYLT1):c.2725_2727del (p.Leu909del)
NM_022166.4(XYLT1):c.2733C>A (p.Gly911=)
NM_022166.4(XYLT1):c.2739G>A (p.Met913Ile)
NM_022166.4(XYLT1):c.2766G>A (p.Thr922=) rs371058087
NM_022166.4(XYLT1):c.2768G>A (p.Gly923Asp)
NM_022166.4(XYLT1):c.276dup (p.Pro93fs) rs587777369
NM_022166.4(XYLT1):c.279_284del (p.Gln94_Ala95del) rs1210050000
NM_022166.4(XYLT1):c.2808G>A (p.Thr936=)
NM_022166.4(XYLT1):c.281_306del (p.Gln94fs) rs1567215615
NM_022166.4(XYLT1):c.2827C>T (p.Pro943Ser)
NM_022166.4(XYLT1):c.282G>A (p.Gln94=)
NM_022166.4(XYLT1):c.2856C>T (p.Val952=)
NM_022166.4(XYLT1):c.2869C>T (p.Arg957Trp)
NM_022166.4(XYLT1):c.2878T>C (p.Ter960Gln)
NM_022166.4(XYLT1):c.28C>T (p.Leu10=)
NM_022166.4(XYLT1):c.293G>T (p.Arg98Leu) rs1800826564
NM_022166.4(XYLT1):c.306C>T (p.Pro102=) rs763158776
NM_022166.4(XYLT1):c.317G>A (p.Arg106Gln) rs1438453537
NM_022166.4(XYLT1):c.317G>C (p.Arg106Pro) rs1438453537
NM_022166.4(XYLT1):c.319G>T (p.Gly107Ter) rs1567215600
NM_022166.4(XYLT1):c.337C>T (p.Arg113Trp) rs2036970942
NM_022166.4(XYLT1):c.346C>G (p.Leu116Val) rs2036970723
NM_022166.4(XYLT1):c.351C>T (p.Pro117=)
NM_022166.4(XYLT1):c.357G>A (p.Arg119=) rs777120741
NM_022166.4(XYLT1):c.364-9A>G
NM_022166.4(XYLT1):c.366T>C (p.Asp122=)
NM_022166.4(XYLT1):c.402+18C>G rs111904908
NM_022166.4(XYLT1):c.402+18C>T rs111904908
NM_022166.4(XYLT1):c.403-18C>T
NM_022166.4(XYLT1):c.412T>C (p.Phe138Leu) rs2033690309
NM_022166.4(XYLT1):c.422G>A (p.Arg141Gln)
NM_022166.4(XYLT1):c.436G>A (p.Val146Met) rs2033689677
NM_022166.4(XYLT1):c.45C>G (p.His15Gln)
NM_022166.4(XYLT1):c.4G>A (p.Val2Met) rs1567216029
NM_022166.4(XYLT1):c.504C>T (p.Phe168=)
NM_022166.4(XYLT1):c.515C>T (p.Thr172Ile)
NM_022166.4(XYLT1):c.517C>G (p.Gln173Glu)
NM_022166.4(XYLT1):c.537T>C (p.Pro179=)
NM_022166.4(XYLT1):c.553C>G (p.Pro185Ala)
NM_022166.4(XYLT1):c.560G>A (p.Ser187Asn)
NM_022166.4(XYLT1):c.566A>G (p.Gln189Arg)
NM_022166.4(XYLT1):c.570G>A (p.Lys190=)
NM_022166.4(XYLT1):c.60G>C (p.Ala20=)
NM_022166.4(XYLT1):c.615A>G (p.Gly205=) rs762851973
NM_022166.4(XYLT1):c.630G>A (p.Gly210=)
NM_022166.4(XYLT1):c.649C>T (p.Leu217=)
NM_022166.4(XYLT1):c.693G>A (p.Lys231=)
NM_022166.4(XYLT1):c.69G>A (p.Thr23=)
NM_022166.4(XYLT1):c.71TGC[5] (p.Leu27_Gln28insLeu)
NM_022166.4(XYLT1):c.742G>A (p.Glu248Lys) rs765052371
NM_022166.4(XYLT1):c.764C>T (p.Pro255Leu) rs771239606
NM_022166.4(XYLT1):c.809G>A (p.Arg270His)
NM_022166.4(XYLT1):c.822G>A (p.Lys274=)
NM_022166.4(XYLT1):c.829C>T (p.Arg277Cys)
NM_022166.4(XYLT1):c.830G>T (p.Arg277Leu) rs751753807
NM_022166.4(XYLT1):c.863A>G (p.Lys288Arg)
NM_022166.4(XYLT1):c.888G>A (p.Lys296=)
NM_022166.4(XYLT1):c.899T>C (p.Phe300Ser) rs2141757551
NM_022166.4(XYLT1):c.906C>T (p.Pro302=)
NM_022166.4(XYLT1):c.907C>G (p.Leu303Val)
NM_022166.4(XYLT1):c.913+15C>T
NM_022166.4(XYLT1):c.913+15del rs2141757493
NM_022166.4(XYLT1):c.913+16G>C rs540575525
NM_022166.4(XYLT1):c.914-12G>T
NM_022166.4(XYLT1):c.914-16C>G
NM_022166.4(XYLT1):c.914-8T>A rs2141589675
NM_022166.4(XYLT1):c.914-9T>A rs1244804362
NM_022166.4(XYLT1):c.923A>C (p.Asn308Thr) rs2141589656
NM_022166.4(XYLT1):c.927G>A (p.Lys309=) rs1368460695
NM_022166.4(XYLT1):c.927G>C (p.Lys309Asn) rs1368460695
NM_022166.4(XYLT1):c.952G>A (p.Val318Met)
NM_022166.4(XYLT1):c.958T>C (p.Tyr320His)
NM_022166.4(XYLT1):c.962T>G (p.Met321Arg)
NM_022166.4(XYLT1):c.975G>A (p.Pro325=)
NM_022166.4(XYLT1):c.981A>G (p.Arg327=)
NM_022166.4(XYLT1):c.987C>T (p.Ala329=) rs2032521829
NM_022166.4(XYLT1):c.9G>A (p.Ala3=)
NW_019805500.1:g.472169CCG[(100-833)]

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.