| 405275522 | CV3215961 | single nucleotide variant | NM_025082.4(CENPT):c.-6G>T | CENPT-related disorder [RCV003952244] | benign | 16 | 67833865 | 67833865 | Human | | name , trait , alternate_id |
| 401934504 | CV2808053 | single nucleotide variant | NM_025082.4(CENPT):c.386+7A>G | CENPT-related disorder [RCV003954147]|not provided [RCV003411373] | likely benign | 16 | 67832005 | 67832005 | Human | 1 | name , trait , alternate_id |
| 405285867 | CV3191863 | single nucleotide variant | NM_025082.4(CENPT):c.202-5G>A | CENPT-related disorder [RCV003923812] | benign | 16 | 67832320 | 67832320 | Human | | name , trait , alternate_id |
| 405259177 | CV3194540 | single nucleotide variant | NM_025082.4(CENPT):c.524-5G>C | CENPT-related disorder [RCV003893935] | likely benign | 16 | 67831617 | 67831617 | Human | | name , trait , alternate_id |
| 405294576 | CV3208969 | single nucleotide variant | NM_025082.4(CENPT):c.111-9T>A | CENPT-related disorder [RCV003934480] | benign | 16 | 67832554 | 67832554 | Human | | name , trait , alternate_id |
| 150413827 | CV1199841 | single nucleotide variant | NM_025082.4(CENPT):c.703+46C>T | Short stature and microcephaly with genital anomalies [RCV001578984]|not provided [RCV004710325] | benign | 16 | 67831170 | 67831170 | Human | 1 | name |
| 405291698 | CV3205976 | single nucleotide variant | NM_025082.4(CENPT):c.387-10A>G | CENPT-related disorder [RCV003964074] | likely benign | 16 | 67831900 | 67831900 | Human | | name , trait , alternate_id |
| 15173952 | CV789156 | single nucleotide variant | NM_025082.4(CENPT):c.1186+1G>A | Short stature and microcephaly with genital anomalies [RCV000984535] | pathogenic | 16 | 67829764 | 67829764 | Human | 1 | name |
| 150413824 | CV1199840 | single nucleotide variant | NM_025082.4(CENPT):c.1187-32A>G | Short stature and microcephaly with genital anomalies [RCV001578983]|not provided [RCV004710324] | benign | 16 | 67829548 | 67829548 | Human | 1 | name |
| 150413830 | CV1199842 | single nucleotide variant | NM_025082.4(CENPT):c.24C>A (p.Ser8Arg) | CENPT-related disorder [RCV003980720]|Short stature and microcephaly with genital anomalies [RCV001578985]|not provided [RCV004710326] | benign | 16 | 67833836 | 67833836 | Human | 1 | name , trait , alternate_id |
| 329372278 | CV2455141 | single nucleotide variant | NM_025082.4(CENPT):c.23G>A (p.Ser8Asn) | not specified [RCV004272385] | uncertain significance | 16 | 67833837 | 67833837 | Human | | name |
| 405284828 | CV3190839 | single nucleotide variant | NM_025082.4(CENPT):c.264G>A (p.Thr88=) | CENPT-related disorder [RCV003909405] | likely benign | 16 | 67832253 | 67832253 | Human | | name , trait , alternate_id |
| 597779725 | CV3645564 | single nucleotide variant | NM_025082.4(CENPT):c.13A>C (p.Asn5His) | not specified [RCV004899337] | uncertain significance | 16 | 67833847 | 67833847 | Human | | name |
| 401719497 | CV2729234 | single nucleotide variant | NM_025082.4(CENPT):c.83C>T (p.Pro28Leu) | not specified [RCV004332701] | uncertain significance | 16 | 67833777 | 67833777 | Human | | name |
| 405293940 | CV3203258 | single nucleotide variant | NM_025082.4(CENPT):c.759C>T (p.Asn253=) | CENPT-related disorder [RCV003933819] | likely benign | 16 | 67830493 | 67830493 | Human | | name , trait , alternate_id |
| 405255995 | CV3208487 | single nucleotide variant | NM_025082.4(CENPT):c.819C>T (p.Ala273=) | CENPT-related disorder [RCV003939578] | likely benign | 16 | 67830433 | 67830433 | Human | | name , trait , alternate_id |
| 405294555 | CV3209080 | single nucleotide variant | NM_025082.4(CENPT):c.67G>A (p.Ala23Thr) | CENPT-related disorder [RCV003934501] | benign | 16 | 67833793 | 67833793 | Human | | name , trait , alternate_id |
| 597779686 | CV3645554 | single nucleotide variant | NM_025082.4(CENPT):c.73C>G (p.Pro25Ala) | not specified [RCV004899327] | uncertain significance | 16 | 67833787 | 67833787 | Human | | name |
| 15168225 | CV740303 | single nucleotide variant | NM_025082.4(CENPT):c.540T>C (p.Ala180=) | CENPT-related disorder [RCV003923048]|not provided [RCV000904809] | benign | 16 | 67831596 | 67831596 | Human | 1 | name , trait , alternate_id |
| 156104571 | CV2260587 | single nucleotide variant | NM_025082.4(CENPT):c.164C>G (p.Thr55Arg) | not specified [RCV004123357] | uncertain significance | 16 | 67832492 | 67832492 | Human | | name |
| 156203381 | CV2313303 | single nucleotide variant | NM_025082.4(CENPT):c.121G>A (p.Ala41Thr) | not specified [RCV004161545] | uncertain significance | 16 | 67832535 | 67832535 | Human | | name |
| 156228797 | CV2400112 | single nucleotide variant | NM_025082.4(CENPT):c.170C>G (p.Thr57Arg) | not specified [RCV004242920] | uncertain significance | 16 | 67832486 | 67832486 | Human | | name |
| 329366069 | CV2438065 | single nucleotide variant | NM_025082.4(CENPT):c.259C>T (p.Arg87Trp) | not specified [RCV004256854] | uncertain significance | 16 | 67832258 | 67832258 | Human | | name |
| 401750348 | CV2715602 | single nucleotide variant | NM_025082.4(CENPT):c.233G>T (p.Ser78Ile) | not specified [RCV004326991] | uncertain significance | 16 | 67832284 | 67832284 | Human | | name |
| 401903350 | CV2808054 | single nucleotide variant | NM_025082.4(CENPT):c.239A>G (p.His80Arg) | not provided [RCV003419375] | uncertain significance | 16 | 67832278 | 67832278 | Human | | name |
| 401944506 | CV2840165 | single nucleotide variant | NM_025082.4(CENPT):c.116G>A (p.Arg39Gln) | not provided [RCV003457255] | likely benign | 16 | 67832540 | 67832540 | Human | | name |
| 405762283 | CV3300315 | single nucleotide variant | NM_025082.4(CENPT):c.293C>G (p.Pro98Arg) | not specified [RCV004433832] | uncertain significance | 16 | 67832105 | 67832105 | Human | | name |
| 597779673 | CV3645551 | single nucleotide variant | NM_025082.4(CENPT):c.134C>T (p.Thr45Met) | not specified [RCV004899324] | uncertain significance | 16 | 67832522 | 67832522 | Human | | name |
| 597779717 | CV3645562 | single nucleotide variant | NM_025082.4(CENPT):c.295G>C (p.Glu99Gln) | not specified [RCV004899335] | uncertain significance | 16 | 67832103 | 67832103 | Human | | name |
| 598241465 | CV3951469 | single nucleotide variant | NM_025082.4(CENPT):c.287C>T (p.Thr96Ile) | not specified [RCV005321551] | uncertain significance | 16 | 67832230 | 67832230 | Human | | name |
| 598241471 | CV3951473 | single nucleotide variant | NM_025082.4(CENPT):c.185G>A (p.Arg62His) | not specified [RCV005321552] | uncertain significance | 16 | 67832471 | 67832471 | Human | | name |
| 598208191 | CV3951479 | single nucleotide variant | NM_025082.4(CENPT):c.174A>G (p.Ile58Met) | not specified [RCV005315425] | uncertain significance | 16 | 67832482 | 67832482 | Human | | name |
| 598208226 | CV3951488 | single nucleotide variant | NM_025082.4(CENPT):c.1140C>T (p.Asp380=) | not specified [RCV005315433] | likely benign | 16 | 67829811 | 67829811 | Human | | name |
| 15123814 | CV755319 | single nucleotide variant | NM_025082.4(CENPT):c.1570C>T (p.Leu524=) | not provided [RCV000918882] | likely benign | 16 | 67828383 | 67828383 | Human | | name |
| 155915172 | CV2204025 | single nucleotide variant | NM_025082.4(CENPT):c.407A>C (p.Glu136Ala) | not specified [RCV004070063] | uncertain significance | 16 | 67831870 | 67831870 | Human | | name |
| 156379155 | CV2207896 | single nucleotide variant | NM_025082.4(CENPT):c.763T>C (p.Tyr255His) | not specified [RCV004084322] | likely benign | 16 | 67830489 | 67830489 | Human | | name |
| 156096227 | CV2210405 | single nucleotide variant | NM_025082.4(CENPT):c.820G>A (p.Gly274Ser) | not specified [RCV004089553] | likely benign | 16 | 67830432 | 67830432 | Human | | name |
| 156021333 | CV2264447 | single nucleotide variant | NM_025082.4(CENPT):c.365G>A (p.Arg122Lys) | not specified [RCV004138345] | uncertain significance | 16 | 67832033 | 67832033 | Human | | name |
| 156281881 | CV2363079 | single nucleotide variant | NM_025082.4(CENPT):c.644G>A (p.Arg215Gln) | not specified [RCV004211206] | uncertain significance | 16 | 67831275 | 67831275 | Human | | name |
| 329393744 | CV2449831 | single nucleotide variant | NM_025082.4(CENPT):c.455G>C (p.Arg152Thr) | not specified [RCV004268928] | uncertain significance | 16 | 67831822 | 67831822 | Human | | name |
| 401736454 | CV2703146 | single nucleotide variant | NM_025082.4(CENPT):c.997G>A (p.Ala333Thr) | not specified [RCV004321432] | uncertain significance | 16 | 67829954 | 67829954 | Human | | name |
| 401749490 | CV2703147 | single nucleotide variant | NM_025082.4(CENPT):c.998C>G (p.Ala333Gly) | not specified [RCV004321433] | uncertain significance | 16 | 67829953 | 67829953 | Human | | name |
| 401742564 | CV2715262 | single nucleotide variant | NM_025082.4(CENPT):c.805G>A (p.Ala269Thr) | not specified [RCV004324605] | uncertain significance | 16 | 67830447 | 67830447 | Human | | name |
| 405289313 | CV3205055 | single nucleotide variant | NM_025082.4(CENPT):c.361T>G (p.Ser121Ala) | CENPT-related disorder [RCV003961668] | benign | 16 | 67832037 | 67832037 | Human | | name , trait , alternate_id |
| 405289543 | CV3205242 | single nucleotide variant | NM_025082.4(CENPT):c.707T>C (p.Ile236Thr) | CENPT-related disorder [RCV003961824] | likely benign | 16 | 67830545 | 67830545 | Human | | name , trait , alternate_id |
| 405276533 | CV3206728 | single nucleotide variant | NM_025082.4(CENPT):c.364A>G (p.Arg122Gly) | CENPT-related disorder [RCV003917164] | benign | 16 | 67832034 | 67832034 | Human | 1 | name , trait , alternate_id |
| 405289959 | CV3219105 | single nucleotide variant | NM_025082.4(CENPT):c.377G>A (p.Ser126Asn) | CENPT-related disorder [RCV003962051] | likely benign | 16 | 67832021 | 67832021 | Human | | name , trait , alternate_id |
| 405762289 | CV3300316 | single nucleotide variant | NM_025082.4(CENPT):c.394C>G (p.Leu132Val) | not specified [RCV004433833] | uncertain significance | 16 | 67831883 | 67831883 | Human | | name |
| 405762295 | CV3300317 | single nucleotide variant | NM_025082.4(CENPT):c.419C>G (p.Pro140Arg) | not specified [RCV004433834] | uncertain significance | 16 | 67831858 | 67831858 | Human | | name |
| 405762301 | CV3300318 | single nucleotide variant | NM_025082.4(CENPT):c.640C>T (p.Arg214Cys) | not specified [RCV004433835] | uncertain significance | 16 | 67831279 | 67831279 | Human | | name |
| 405762311 | CV3300319 | single nucleotide variant | NM_025082.4(CENPT):c.986G>T (p.Gly329Val) | not specified [RCV004433836] | uncertain significance | 16 | 67829965 | 67829965 | Human | | name |
| 407461937 | CV3419031 | single nucleotide variant | NM_025082.4(CENPT):c.823C>T (p.Arg275Cys) | not specified [RCV004612732] | uncertain significance | 16 | 67830429 | 67830429 | Human | | name |
| 407461940 | CV3419032 | single nucleotide variant | NM_025082.4(CENPT):c.622G>A (p.Ala208Thr) | not specified [RCV004612733] | uncertain significance | 16 | 67831297 | 67831297 | Human | | name |
| 597779661 | CV3645548 | single nucleotide variant | NM_025082.4(CENPT):c.947G>A (p.Gly316Asp) | not specified [RCV004899321] | uncertain significance | 16 | 67830004 | 67830004 | Human | | name |
| 597779677 | CV3645552 | single nucleotide variant | NM_025082.4(CENPT):c.416C>A (p.Pro139His) | not specified [RCV004899325] | uncertain significance | 16 | 67831861 | 67831861 | Human | | name |
| 597779681 | CV3645553 | single nucleotide variant | NM_025082.4(CENPT):c.625C>T (p.Arg209Cys) | not specified [RCV004899326] | uncertain significance | 16 | 67831294 | 67831294 | Human | | name |
| 597779698 | CV3645557 | single nucleotide variant | NM_025082.4(CENPT):c.671G>A (p.Arg224Gln) | not specified [RCV004899330] | likely benign | 16 | 67831248 | 67831248 | Human | | name |
| 597779701 | CV3645558 | single nucleotide variant | NM_025082.4(CENPT):c.877G>A (p.Ala293Thr) | not specified [RCV004899331] | uncertain significance | 16 | 67830074 | 67830074 | Human | | name |
| 597779709 | CV3645560 | single nucleotide variant | NM_025082.4(CENPT):c.381C>G (p.Cys127Trp) | not specified [RCV004899333] | uncertain significance | 16 | 67832017 | 67832017 | Human | | name |
| 597779722 | CV3645563 | single nucleotide variant | NM_025082.4(CENPT):c.755C>T (p.Pro252Leu) | not specified [RCV004899336] | uncertain significance | 16 | 67830497 | 67830497 | Human | | name |
| 598208174 | CV3951474 | single nucleotide variant | NM_025082.4(CENPT):c.584C>T (p.Thr195Ile) | not specified [RCV005315421] | uncertain significance | 16 | 67831335 | 67831335 | Human | | name |
| 598241477 | CV3951475 | single nucleotide variant | NM_025082.4(CENPT):c.358C>T (p.Pro120Ser) | not specified [RCV005321553] | likely benign | 16 | 67832040 | 67832040 | Human | | name |
| 598208186 | CV3951478 | single nucleotide variant | NM_025082.4(CENPT):c.689C>T (p.Ser230Phe) | not specified [RCV005315424] | uncertain significance | 16 | 67831230 | 67831230 | Human | | name |
| 598208196 | CV3951480 | single nucleotide variant | NM_025082.4(CENPT):c.457A>G (p.Arg153Gly) | not specified [RCV005315426] | uncertain significance | 16 | 67831820 | 67831820 | Human | | name |
| 598208207 | CV3951483 | single nucleotide variant | NM_025082.4(CENPT):c.569A>G (p.Asn190Ser) | not specified [RCV005315428] | uncertain significance | 16 | 67831350 | 67831350 | Human | | name |
| 598208210 | CV3951484 | single nucleotide variant | NM_025082.4(CENPT):c.974C>T (p.Pro325Leu) | not specified [RCV005315429] | uncertain significance | 16 | 67829977 | 67829977 | Human | | name |
| 598208222 | CV3951487 | single nucleotide variant | NM_025082.4(CENPT):c.911A>G (p.Asn304Ser) | not specified [RCV005315432] | uncertain significance | 16 | 67830040 | 67830040 | Human | | name |
| 156387210 | CV2221442 | single nucleotide variant | NM_025082.4(CENPT):c.1503T>G (p.Phe501Leu) | not specified [RCV004096731] | uncertain significance | 16 | 67828533 | 67828533 | Human | | name |
| 156123473 | CV2276179 | single nucleotide variant | NM_025082.4(CENPT):c.1652C>T (p.Ala551Val) | not specified [RCV004141837] | uncertain significance | 16 | 67828301 | 67828301 | Human | | name |
| 156345050 | CV2346339 | single nucleotide variant | NM_025082.4(CENPT):c.1558C>G (p.Arg520Gly) | not specified [RCV004203823] | uncertain significance | 16 | 67828478 | 67828478 | Human | | name |
| 156089295 | CV2359359 | single nucleotide variant | NM_025082.4(CENPT):c.1159G>A (p.Gly387Arg) | not specified [RCV004212638] | uncertain significance | 16 | 67829792 | 67829792 | Human | | name |
| 155910479 | CV2369959 | single nucleotide variant | NM_025082.4(CENPT):c.1276G>A (p.Ala426Thr) | not specified [RCV004208423] | uncertain significance | 16 | 67829427 | 67829427 | Human | | name |
| 329401936 | CV2458002 | single nucleotide variant | NM_025082.4(CENPT):c.1367A>T (p.His456Leu) | not specified [RCV004271575] | uncertain significance | 16 | 67828757 | 67828757 | Human | | name |
| 401721875 | CV2680718 | single nucleotide variant | NM_025082.4(CENPT):c.1115G>T (p.Gly372Val) | not specified [RCV004291329] | uncertain significance | 16 | 67829836 | 67829836 | Human | | name |
| 401729412 | CV2733029 | single nucleotide variant | NM_025082.4(CENPT):c.1333C>T (p.Arg445Trp) | not specified [RCV004331200] | uncertain significance | 16 | 67828791 | 67828791 | Human | | name |
| 401888033 | CV2791953 | single nucleotide variant | NM_025082.4(CENPT):c.1478A>T (p.His493Leu) | not specified [RCV004359376] | uncertain significance | 16 | 67828558 | 67828558 | Human | | name |
| 405293951 | CV3203269 | single nucleotide variant | NM_025082.4(CENPT):c.1265C>T (p.Ala422Val) | CENPT-related disorder [RCV003933830] | likely benign | 16 | 67829438 | 67829438 | Human | | name , trait , alternate_id |
| 405295053 | CV3210987 | single nucleotide variant | NM_025082.4(CENPT):c.1321C>G (p.Pro441Ala) | CENPT-related disorder [RCV003936992] | benign | 16 | 67828803 | 67828803 | Human | | name , trait , alternate_id |
| 405762267 | CV3300312 | single nucleotide variant | NM_025082.4(CENPT):c.1199C>T (p.Ser400Leu) | not specified [RCV004433829] | likely benign | 16 | 67829504 | 67829504 | Human | | name |
| 405762272 | CV3300313 | single nucleotide variant | NM_025082.4(CENPT):c.1340C>A (p.Thr447Asn) | not specified [RCV004433830] | uncertain significance | 16 | 67828784 | 67828784 | Human | | name |
| 405762277 | CV3300314 | single nucleotide variant | NM_025082.4(CENPT):c.1436C>T (p.Ala479Val) | not specified [RCV004433831] | uncertain significance | 16 | 67828688 | 67828688 | Human | | name |
| 407461930 | CV3419029 | single nucleotide variant | NM_025082.4(CENPT):c.1610G>A (p.Arg537Gln) | not specified [RCV004612730] | uncertain significance | 16 | 67828343 | 67828343 | Human | | name |
| 407461932 | CV3419030 | single nucleotide variant | NM_025082.4(CENPT):c.1412C>T (p.Ala471Val) | not specified [RCV004612731] | uncertain significance | 16 | 67828712 | 67828712 | Human | | name |
| 408382052 | CV3525584 | single nucleotide variant | NM_025082.4(CENPT):c.1519C>T (p.Arg507Cys) | not specified [RCV004766493] | likely benign | 16 | 67828517 | 67828517 | Human | | name |
| 597779657 | CV3645547 | single nucleotide variant | NM_025082.4(CENPT):c.1286C>T (p.Ser429Phe) | not specified [RCV004899320] | uncertain significance | 16 | 67828838 | 67828838 | Human | | name |
| 597779665 | CV3645549 | single nucleotide variant | NM_025082.4(CENPT):c.1376G>C (p.Gly459Ala) | not specified [RCV004899322] | uncertain significance | 16 | 67828748 | 67828748 | Human | | name |
| 597779669 | CV3645550 | single nucleotide variant | NM_025082.4(CENPT):c.1396C>T (p.Leu466Phe) | not specified [RCV004899323] | uncertain significance | 16 | 67828728 | 67828728 | Human | | name |
| 597779690 | CV3645555 | single nucleotide variant | NM_025082.4(CENPT):c.1631G>A (p.Arg544Gln) | not specified [RCV004899328] | uncertain significance | 16 | 67828322 | 67828322 | Human | | name |
| 597779693 | CV3645556 | single nucleotide variant | NM_025082.4(CENPT):c.1295C>T (p.Pro432Leu) | not specified [RCV004899329] | uncertain significance | 16 | 67828829 | 67828829 | Human | | name |
| 597779705 | CV3645559 | single nucleotide variant | NM_025082.4(CENPT):c.1597G>A (p.Val533Met) | not specified [RCV004899332] | uncertain significance | 16 | 67828356 | 67828356 | Human | | name |
| 597779713 | CV3645561 | single nucleotide variant | NM_025082.4(CENPT):c.1525A>G (p.Thr509Ala) | not specified [RCV004899334] | uncertain significance | 16 | 67828511 | 67828511 | Human | | name |
| 598208160 | CV3951470 | single nucleotide variant | NM_025082.4(CENPT):c.1180A>G (p.Arg394Gly) | not specified [RCV005315418] | uncertain significance | 16 | 67829771 | 67829771 | Human | | name |
| 598208166 | CV3951471 | single nucleotide variant | NM_025082.4(CENPT):c.1334G>A (p.Arg445Gln) | not specified [RCV005315419] | uncertain significance | 16 | 67828790 | 67828790 | Human | | name |
| 598208178 | CV3951476 | single nucleotide variant | NM_025082.4(CENPT):c.1409A>G (p.Tyr470Cys) | not specified [RCV005315422] | uncertain significance | 16 | 67828715 | 67828715 | Human | | name |
| 598208182 | CV3951477 | single nucleotide variant | NM_025082.4(CENPT):c.1415A>G (p.Lys472Arg) | not specified [RCV005315423] | uncertain significance | 16 | 67828709 | 67828709 | Human | | name |
| 598241484 | CV3951481 | single nucleotide variant | NM_025082.4(CENPT):c.1597G>C (p.Val533Leu) | not specified [RCV005321554] | uncertain significance | 16 | 67828356 | 67828356 | Human | | name |
| 598208214 | CV3951485 | single nucleotide variant | NM_025082.4(CENPT):c.1351C>A (p.Pro451Thr) | not specified [RCV005315430] | uncertain significance | 16 | 67828773 | 67828773 | Human | | name |
| 598208219 | CV3951486 | single nucleotide variant | NM_025082.4(CENPT):c.1150G>A (p.Ala384Thr) | not specified [RCV005315431] | uncertain significance | 16 | 67829801 | 67829801 | Human | | name |