| 151355829 | CV1327013 | single nucleotide variant | NM_001348800.3(ZBTB20):c.*6A>G | not specified [RCV001822182] | benign | 3 | 114338999 | 114338999 | Human | | name |
| 156309713 | CV2163953 | single nucleotide variant | NM_001348800.3(ZBTB20):c.12-1G>A | not provided [RCV003045961] | likely pathogenic|uncertain significance | 3 | 114380405 | 114380405 | Human | | name |
| 243053295 | CV2418142 | deletion | NM_001348800.3(ZBTB20):c.11+1del | Primrose syndrome [RCV003153208] | likely pathogenic | 3 | 114380776 | 114380776 | Human | 1 | name |
| 597912521 | CV3817294 | single nucleotide variant | NM_001348800.3(ZBTB20):c.12-6T>G | not provided [RCV005154496] | likely benign | 3 | 114380410 | 114380410 | Human | | name |
| 597945036 | CV3844147 | single nucleotide variant | NM_001348800.3(ZBTB20):c.11+7C>T | not provided [RCV005188756] | likely benign | 3 | 114380770 | 114380770 | Human | | name |
| 13445748 | CV438254 | single nucleotide variant | NM_001348800.3(ZBTB20):c.11+2T>C | not provided [RCV000512812] | likely pathogenic|uncertain significance | 3 | 114380775 | 114380775 | Human | | name |
| 155910781 | CV2041317 | single nucleotide variant | NM_001348800.3(ZBTB20):c.11+18A>T | not provided [RCV002771567] | benign | 3 | 114380759 | 114380759 | Human | | name |
| 408389824 | CV3519063 | single nucleotide variant | NM_001348800.3(ZBTB20):c.199+4A>C | not provided [RCV004762372] | uncertain significance | 3 | 114380213 | 114380213 | Human | | name |
| 597957833 | CV3796810 | single nucleotide variant | NM_001348800.3(ZBTB20):c.12-12G>T | not provided [RCV005137708] | likely benign | 3 | 114380416 | 114380416 | Human | | name |
| 597889225 | CV3804801 | single nucleotide variant | NM_001348800.3(ZBTB20):c.11+16G>A | not provided [RCV005151063] | likely benign | 3 | 114380761 | 114380761 | Human | | name |
| 597846694 | CV3828042 | single nucleotide variant | NM_001348800.3(ZBTB20):c.200-9A>G | not provided [RCV005173117] | likely benign | 3 | 114351887 | 114351887 | Human | | name |
| 150533708 | CV1301645 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1805-4A>G | not provided [RCV001755017] | uncertain significance | 3 | 114339430 | 114339430 | Human | | name |
| 156170407 | CV2056787 | single nucleotide variant | NM_001348800.3(ZBTB20):c.199+16A>G | not provided [RCV002801935] | likely benign | 3 | 114380201 | 114380201 | Human | | name |
| 156336809 | CV2178223 | single nucleotide variant | NM_001348800.3(ZBTB20):c.200-11A>T | not provided [RCV003047522] | likely benign | 3 | 114351889 | 114351889 | Human | | name |
| 405048617 | CV3137907 | single nucleotide variant | NM_001348800.3(ZBTB20):c.199+13C>T | not provided [RCV003831945] | likely benign | 3 | 114380204 | 114380204 | Human | | name |
| 405230742 | CV3153929 | single nucleotide variant | NM_001348800.3(ZBTB20):c.199+17G>A | not provided [RCV003848797] | likely benign | 3 | 114380200 | 114380200 | Human | | name |
| 596938788 | CV3549816 | single nucleotide variant | NM_001348800.3(ZBTB20):c.-153-1G>C | not provided [RCV004812857] | uncertain significance | 3 | 114380941 | 114380941 | Human | | name |
| 616936587 | CV4016498 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1805-1G>A | Primrose syndrome [RCV005415365] | pathogenic | 3 | 114339427 | 114339427 | Human | 1 | name |
| 150505083 | CV1255379 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1805-89T>C | not provided [RCV001677826] | benign | 3 | 114339515 | 114339515 | Human | | name |
| 150452653 | CV1260422 | single nucleotide variant | NM_001348800.3(ZBTB20):c.199+165G>T | not provided [RCV001680912] | benign | 3 | 114380052 | 114380052 | Human | | name |
| 152032706 | CV1546397 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1805-20G>T | not provided [RCV002124800] | benign | 3 | 114339446 | 114339446 | Human | | name |
| 597865565 | CV3742364 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1804+15A>G | not provided [RCV005067980] | likely benign | 3 | 114350259 | 114350259 | Human | | name |
| 150499413 | CV1270818 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1805-140G>A | not provided [RCV001689368] | benign | 3 | 114339566 | 114339566 | Human | | name |
| 8577831 | CV112208 | single nucleotide variant | NM_001164343.2(ZBTB20):c.-506+8101A>G | Lung cancer [RCV000092731] | uncertain significance | 3 | 114865938 | 114865938 | Human | | name |
| 8577828 | CV112205 | single nucleotide variant | NM_001164343.2(ZBTB20):c.-349-21050T>C | Lung cancer [RCV000092728] | uncertain significance | 3 | 114521441 | 114521441 | Human | | name |
| 8577830 | CV112207 | single nucleotide variant | NM_001164343.2(ZBTB20):c.-506+56020T>C | Lung cancer [RCV000092730] | uncertain significance | 3 | 114818019 | 114818019 | Human | | name |
| 156435477 | CV2403589 | deletion | NM_001348800.3(ZBTB20):c.-342-50205del | Autism spectrum disorder [RCV003128051] | uncertain significance | 3 | 114743780 | 114743780 | Human | 2 | name |
| 15192576 | CV733701 | single nucleotide variant | NM_001348800.3(ZBTB20):c.15G>A (p.Lys5=) | not provided [RCV000910583] | likely benign | 3 | 114380401 | 114380401 | Human | | name |
| 404991660 | CV3176276 | single nucleotide variant | NM_001348800.3(ZBTB20):c.93G>A (p.Pro31=) | not provided [RCV003881601] | likely benign | 3 | 114380323 | 114380323 | Human | | name |
| 151355436 | CV1328503 | single nucleotide variant | NM_001348800.3(ZBTB20):c.189G>C (p.Gly63=) | not specified [RCV001820508] | likely benign | 3 | 114380227 | 114380227 | Human | | name |
| 156003661 | CV2014885 | single nucleotide variant | NM_001348800.3(ZBTB20):c.138A>T (p.Pro46=) | not provided [RCV002690172] | likely benign | 3 | 114380278 | 114380278 | Human | | name |
| 156359368 | CV2126324 | single nucleotide variant | NM_001348800.3(ZBTB20):c.11G>A (p.Arg4Gln) | ZBTB20-related disorder [RCV003943655]|not provided [RCV002966878] | likely benign|uncertain significance | 3 | 114380777 | 114380777 | Human | 1 | name , trait , alternate_id |
| 402506093 | CV2927834 | single nucleotide variant | NM_001348800.3(ZBTB20):c.156A>T (p.Thr52=) | not provided [RCV003574471] | likely benign | 3 | 114380260 | 114380260 | Human | | name |
| 405087867 | CV3044480 | single nucleotide variant | NM_001348800.3(ZBTB20):c.150C>T (p.His50=) | ZBTB20-related disorder [RCV003939170]|not provided [RCV003717603] | benign|likely benign | 3 | 114380266 | 114380266 | Human | 1 | name , trait , alternate_id |
| 405141481 | CV3046021 | single nucleotide variant | NM_001348800.3(ZBTB20):c.186C>T (p.Thr62=) | not provided [RCV003725640] | likely benign | 3 | 114380230 | 114380230 | Human | | name |
| 402503103 | CV3181077 | single nucleotide variant | NM_001348800.3(ZBTB20):c.124T>C (p.Leu42=) | not provided [RCV003878094] | likely benign | 3 | 114380292 | 114380292 | Human | | name |
| 617151504 | CV4018035 | single nucleotide variant | NM_001348800.3(ZBTB20):c.11G>T (p.Arg4Leu) | not specified [RCV005417825] | uncertain significance | 3 | 114380777 | 114380777 | Human | | name |
| 15203101 | CV747903 | single nucleotide variant | NM_001348800.3(ZBTB20):c.273C>T (p.Leu91=) | not provided [RCV000913721] | likely benign | 3 | 114351805 | 114351805 | Human | | name |
| 15113455 | CV747904 | single nucleotide variant | NM_001348800.3(ZBTB20):c.231C>T (p.Arg77=) | not provided [RCV000917096] | likely benign | 3 | 114351847 | 114351847 | Human | | name |
| 28903522 | CV859212 | single nucleotide variant | NM_001348800.3(ZBTB20):c.10C>T (p.Arg4Trp) | Inborn genetic diseases [RCV002554863]|not provided [RCV001093167] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 114380778 | 114380778 | Human | 1 | name |
| 152168262 | CV1547936 | single nucleotide variant | NM_001348800.3(ZBTB20):c.732C>T (p.Tyr244=) | not provided [RCV002161072] | likely benign | 3 | 114351346 | 114351346 | Human | | name |
| 156406497 | CV1891132 | single nucleotide variant | NM_001348800.3(ZBTB20):c.855C>T (p.Pro285=) | not provided [RCV003070386] | benign | 3 | 114351223 | 114351223 | Human | | name |
| 156021235 | CV1911462 | single nucleotide variant | NM_001348800.3(ZBTB20):c.681G>C (p.Thr227=) | not provided [RCV002636718] | likely benign | 3 | 114351397 | 114351397 | Human | | name |
| 156396183 | CV1924788 | single nucleotide variant | NM_001348800.3(ZBTB20):c.315C>T (p.Asp105=) | ZBTB20-related disorder [RCV003973726]|not provided [RCV002654932] | likely benign | 3 | 114351763 | 114351763 | Human | 1 | name , trait , alternate_id |
| 156359966 | CV2006957 | single nucleotide variant | NM_001348800.3(ZBTB20):c.60G>C (p.Glu20Asp) | Inborn genetic diseases [RCV002676181]|not provided [RCV002676180] | likely benign|uncertain significance | 3 | 114380356 | 114380356 | Human | 1 | name |
| 156120608 | CV2015915 | single nucleotide variant | NM_001348800.3(ZBTB20):c.360C>T (p.Cys120=) | not provided [RCV002696021] | likely benign | 3 | 114351718 | 114351718 | Human | | name |
| 155962341 | CV2036747 | single nucleotide variant | NM_001348800.3(ZBTB20):c.378C>T (p.Ser126=) | not provided [RCV002776327] | likely benign | 3 | 114351700 | 114351700 | Human | | name |
| 156248306 | CV2044829 | single nucleotide variant | NM_001348800.3(ZBTB20):c.636G>A (p.Pro212=) | not provided [RCV002805917] | likely benign | 3 | 114351442 | 114351442 | Human | | name |
| 156011979 | CV2071846 | single nucleotide variant | NM_001348800.3(ZBTB20):c.399G>A (p.Leu133=) | not provided [RCV002843922] | likely benign | 3 | 114351679 | 114351679 | Human | | name |
| 155976847 | CV2100128 | single nucleotide variant | NM_001348800.3(ZBTB20):c.594C>T (p.Gly198=) | not provided [RCV002881743] | likely benign | 3 | 114351484 | 114351484 | Human | | name |
| 329392284 | CV2441391 | single nucleotide variant | NM_001348800.3(ZBTB20):c.85G>T (p.Ala29Ser) | Inborn genetic diseases [RCV003192585]|not provided [RCV003730454] | uncertain significance | 3 | 114380331 | 114380331 | Human | 1 | name |
| 401778950 | CV2701909 | single nucleotide variant | NM_001348800.3(ZBTB20):c.89A>G (p.Lys30Arg) | Inborn genetic diseases [RCV003287324]|not provided [RCV003779976] | uncertain significance | 3 | 114380327 | 114380327 | Human | 1 | name |
| 405199281 | CV2876968 | single nucleotide variant | NM_001348800.3(ZBTB20):c.771C>T (p.Gly257=) | not provided [RCV003551225] | likely benign | 3 | 114351307 | 114351307 | Human | | name |
| 402515227 | CV2936290 | single nucleotide variant | NM_001348800.3(ZBTB20):c.71C>T (p.Pro24Leu) | not provided [RCV003662893] | uncertain significance | 3 | 114380345 | 114380345 | Human | | name |
| 405158033 | CV2960973 | single nucleotide variant | NM_001348800.3(ZBTB20):c.705C>T (p.His235=) | not provided [RCV003670469] | likely benign | 3 | 114351373 | 114351373 | Human | | name |
| 405242476 | CV2967334 | single nucleotide variant | NM_001348800.3(ZBTB20):c.459G>A (p.Lys153=) | not provided [RCV003684363] | likely benign | 3 | 114351619 | 114351619 | Human | | name |
| 402516039 | CV2993106 | single nucleotide variant | NM_001348800.3(ZBTB20):c.513G>A (p.Leu171=) | not provided [RCV003715963] | likely benign | 3 | 114351565 | 114351565 | Human | | name |
| 402481819 | CV3041679 | single nucleotide variant | NM_001348800.3(ZBTB20):c.417C>T (p.Asp139=) | not provided [RCV003712934] | likely benign | 3 | 114351661 | 114351661 | Human | | name |
| 405253049 | CV3044196 | single nucleotide variant | NM_001348800.3(ZBTB20):c.324G>C (p.Val108=) | not provided [RCV003722388] | likely benign | 3 | 114351754 | 114351754 | Human | | name |
| 405149450 | CV3063543 | single nucleotide variant | NM_001348800.3(ZBTB20):c.819G>A (p.Ala273=) | not provided [RCV003726310] | likely benign | 3 | 114351259 | 114351259 | Human | | name |
| 405149467 | CV3063544 | single nucleotide variant | NM_001348800.3(ZBTB20):c.762T>C (p.Asn254=) | not provided [RCV003726311] | likely benign | 3 | 114351316 | 114351316 | Human | | name |
| 405157078 | CV3064770 | single nucleotide variant | NM_001348800.3(ZBTB20):c.85G>A (p.Ala29Thr) | ZBTB20-related disorder [RCV003893322]|not provided [RCV003726706] | likely benign|uncertain significance | 3 | 114380331 | 114380331 | Human | 1 | name , trait , alternate_id |
| 405153865 | CV3068720 | single nucleotide variant | NM_001348800.3(ZBTB20):c.372C>T (p.Ala124=) | not provided [RCV003726609] | likely benign | 3 | 114351706 | 114351706 | Human | | name |
| 404992361 | CV3132368 | single nucleotide variant | NM_001348800.3(ZBTB20):c.759G>A (p.Gln253=) | not provided [RCV003827306] | likely benign | 3 | 114351319 | 114351319 | Human | | name |
| 405155310 | CV3135120 | single nucleotide variant | NM_001348800.3(ZBTB20):c.98T>C (p.Leu33Pro) | not provided [RCV003840232] | uncertain significance | 3 | 114380318 | 114380318 | Human | | name |
| 405164185 | CV3160407 | single nucleotide variant | NM_001348800.3(ZBTB20):c.525G>T (p.Thr175=) | not provided [RCV003857286] | likely benign | 3 | 114351553 | 114351553 | Human | | name |
| 405216557 | CV3160857 | single nucleotide variant | NM_001348800.3(ZBTB20):c.639G>A (p.Arg213=) | not provided [RCV003862919] | likely benign | 3 | 114351439 | 114351439 | Human | | name |
| 405196248 | CV3168127 | single nucleotide variant | NM_001348800.3(ZBTB20):c.810C>T (p.His270=) | not provided [RCV003860259] | likely benign | 3 | 114351268 | 114351268 | Human | | name |
| 402476066 | CV3173739 | single nucleotide variant | NM_001348800.3(ZBTB20):c.633G>A (p.Thr211=) | not provided [RCV003875277] | likely benign | 3 | 114351445 | 114351445 | Human | | name |
| 404985168 | CV3183739 | single nucleotide variant | NM_001348800.3(ZBTB20):c.915C>T (p.Thr305=) | not provided [RCV003881016] | likely benign | 3 | 114351163 | 114351163 | Human | | name |
| 405268692 | CV3187104 | single nucleotide variant | NM_001348800.3(ZBTB20):c.747G>A (p.Ala249=) | not provided [RCV003887187] | likely benign | 3 | 114351331 | 114351331 | Human | | name |
| 405259240 | CV3194593 | single nucleotide variant | NM_001348800.3(ZBTB20):c.37C>T (p.Gln13Ter) | ZBTB20-related disorder [RCV003893987] | uncertain significance | 3 | 114380379 | 114380379 | Human | | name , trait , alternate_id |
| 597965703 | CV3751429 | single nucleotide variant | NM_001348800.3(ZBTB20):c.438G>A (p.Val146=) | not provided [RCV005082798] | likely benign | 3 | 114351640 | 114351640 | Human | | name |
| 597965795 | CV3793851 | single nucleotide variant | NM_001348800.3(ZBTB20):c.612C>T (p.Ile204=) | not provided [RCV005140233] | likely benign | 3 | 114351466 | 114351466 | Human | | name |
| 597938573 | CV3808271 | single nucleotide variant | NM_001348800.3(ZBTB20):c.477C>T (p.Tyr159=) | not provided [RCV005158459] | likely benign | 3 | 114351601 | 114351601 | Human | | name |
| 597834019 | CV3827731 | single nucleotide variant | NM_001348800.3(ZBTB20):c.735G>A (p.Ser245=) | not provided [RCV005170821] | likely benign | 3 | 114351343 | 114351343 | Human | | name |
| 597958080 | CV3849060 | single nucleotide variant | NM_001348800.3(ZBTB20):c.507A>G (p.Glu169=) | not provided [RCV005192061] | likely benign | 3 | 114351571 | 114351571 | Human | | name |
| 598220934 | CV3891868 | single nucleotide variant | NM_001348800.3(ZBTB20):c.67C>T (p.Gln23Ter) | Primrose syndrome [RCV005253206] | likely pathogenic | 3 | 114380349 | 114380349 | Human | 1 | name |
| 15133378 | CV708475 | single nucleotide variant | NM_001348800.3(ZBTB20):c.735G>C (p.Ser245=) | not provided [RCV000964941] | benign | 3 | 114351343 | 114351343 | Human | | name |
| 15110791 | CV720090 | single nucleotide variant | NM_001348800.3(ZBTB20):c.729C>T (p.Ile243=) | ZBTB20-related disorder [RCV003920806]|not provided [RCV000894139] | likely benign | 3 | 114351349 | 114351349 | Human | 1 | name , trait , alternate_id |
| 15152463 | CV733698 | single nucleotide variant | NM_001348800.3(ZBTB20):c.813G>A (p.Glu271=) | not provided [RCV000901571] | likely benign | 3 | 114351265 | 114351265 | Human | | name |
| 15127722 | CV747898 | single nucleotide variant | NM_001348800.3(ZBTB20):c.831C>A (p.Pro277=) | not provided [RCV000919541] | likely benign | 3 | 114351247 | 114351247 | Human | | name |
| 15198209 | CV747899 | single nucleotide variant | NM_001348800.3(ZBTB20):c.636G>T (p.Pro212=) | ZBTB20-related disorder [RCV003902902]|not provided [RCV000912192] | likely benign | 3 | 114351442 | 114351442 | Human | 1 | name , trait , alternate_id |
| 15162360 | CV747900 | single nucleotide variant | NM_001348800.3(ZBTB20):c.630C>T (p.Asp210=) | not provided [RCV000925875] | likely benign | 3 | 114351448 | 114351448 | Human | | name |
| 15130365 | CV747901 | single nucleotide variant | NM_001348800.3(ZBTB20):c.348C>T (p.Arg116=) | not provided [RCV000919995] | likely benign | 3 | 114351730 | 114351730 | Human | | name |
| 15116533 | CV747902 | single nucleotide variant | NM_001348800.3(ZBTB20):c.321G>C (p.Thr107=) | ZBTB20-related disorder [RCV003895578]|not provided [RCV000917644] | likely benign | 3 | 114351757 | 114351757 | Human | 1 | name , trait , alternate_id |
| 150338555 | CV1174263 | deletion | NM_001348800.3(ZBTB20):c.918del (p.Glu307fs) | Primrose syndrome [RCV001542527] | likely pathogenic | 3 | 114351160 | 114351160 | Human | 1 | name |
| 150539171 | CV1300192 | single nucleotide variant | NM_001348800.3(ZBTB20):c.155C>A (p.Thr52Lys) | not provided [RCV001765662] | uncertain significance | 3 | 114380261 | 114380261 | Human | | name |
| 150543587 | CV1309545 | single nucleotide variant | NM_001348800.3(ZBTB20):c.181C>T (p.His61Tyr) | not provided [RCV003238594] | uncertain significance | 3 | 114380235 | 114380235 | Human | | name |
| 151761353 | CV1349651 | single nucleotide variant | NM_001348800.3(ZBTB20):c.178G>A (p.Ala60Thr) | not provided [RCV001949180] | likely benign|uncertain significance | 3 | 114380238 | 114380238 | Human | | name |
| 152112409 | CV1558984 | single nucleotide variant | NM_001348800.3(ZBTB20):c.2028C>A (p.Leu676=) | not provided [RCV002134654] | likely benign | 3 | 114339203 | 114339203 | Human | | name |
| 152083566 | CV1569495 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1032G>A (p.Arg344=) | not provided [RCV002113085] | likely benign | 3 | 114351046 | 114351046 | Human | | name |
| 152162293 | CV1608823 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1638T>G (p.Gly546=) | not provided [RCV002104027] | likely benign | 3 | 114350440 | 114350440 | Human | | name |
| 156362944 | CV1905242 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1794C>T (p.Phe598=) | not provided [RCV002602626] | likely benign | 3 | 114350284 | 114350284 | Human | | name |
| 156138508 | CV1911232 | single nucleotide variant | NM_001348800.3(ZBTB20):c.149A>T (p.His50Leu) | not provided [RCV002623569] | uncertain significance | 3 | 114380267 | 114380267 | Human | | name |
| 156408097 | CV1911461 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1491G>A (p.Thr497=) | not provided [RCV002607116] | likely benign | 3 | 114350587 | 114350587 | Human | | name |
| 156027187 | CV1913897 | single nucleotide variant | NM_001348800.3(ZBTB20):c.2154C>T (p.Ser718=) | not provided [RCV002619685] | likely benign | 3 | 114339077 | 114339077 | Human | | name |
| 155937643 | CV1917188 | single nucleotide variant | NM_001348800.3(ZBTB20):c.2094T>G (p.Gly698=) | not provided [RCV002615420] | likely benign | 3 | 114339137 | 114339137 | Human | | name |
| 156128644 | CV1921470 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1866C>A (p.Ile622=) | not provided [RCV002623225] | likely benign | 3 | 114339365 | 114339365 | Human | | name |
| 156442586 | CV1938819 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1134C>T (p.Gly378=) | not provided [RCV003112932] | likely benign | 3 | 114350944 | 114350944 | Human | | name |
| 156251717 | CV1963794 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1779C>T (p.Tyr593=) | not provided [RCV002576562] | likely benign | 3 | 114350299 | 114350299 | Human | | name |
| 156321580 | CV1978658 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1668G>A (p.Ala556=) | not provided [RCV002630380] | likely benign | 3 | 114350410 | 114350410 | Human | | name |
| 156130992 | CV2037439 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1458C>T (p.Asn486=) | not provided [RCV002800612] | likely benign | 3 | 114350620 | 114350620 | Human | | name |
| 156029777 | CV2052181 | single nucleotide variant | NM_001348800.3(ZBTB20):c.262A>G (p.Asn88Asp) | not provided [RCV002821013] | uncertain significance | 3 | 114351816 | 114351816 | Human | | name |
| 155947172 | CV2062310 | single nucleotide variant | NM_001348800.3(ZBTB20):c.2028C>T (p.Leu676=) | not provided [RCV002816054] | likely benign | 3 | 114339203 | 114339203 | Human | | name |
| 156319448 | CV2090552 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1929C>T (p.Phe643=) | not provided [RCV002899192] | likely benign | 3 | 114339302 | 114339302 | Human | | name |
| 156205263 | CV2092687 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1950C>T (p.Asn650=) | ZBTB20-related disorder [RCV003916599]|not provided [RCV002917939] | benign|likely benign | 3 | 114339281 | 114339281 | Human | 1 | name , trait , alternate_id |
| 329394374 | CV2469838 | single nucleotide variant | NM_001348800.3(ZBTB20):c.187G>A (p.Gly63Arg) | Inborn genetic diseases [RCV003218761]|not provided [RCV003730471] | benign|uncertain significance | 3 | 114380229 | 114380229 | Human | 1 | name |
| 401912424 | CV2824840 | single nucleotide variant | NM_001348800.3(ZBTB20):c.239G>A (p.Ser80Asn) | Inborn genetic diseases [RCV004364592]|not provided [RCV003427289] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 114351839 | 114351839 | Human | 1 | name |
| 405067559 | CV2875535 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1872C>T (p.His624=) | not provided [RCV003548331] | likely benign | 3 | 114339359 | 114339359 | Human | | name |
| 402470149 | CV2931027 | single nucleotide variant | NM_001348800.3(ZBTB20):c.263A>G (p.Asn88Ser) | not provided [RCV003570135] | uncertain significance | 3 | 114351815 | 114351815 | Human | | name |
| 402522143 | CV2940233 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1935G>A (p.Gln645=) | not provided [RCV003663388] | likely benign | 3 | 114339296 | 114339296 | Human | | name |
| 405123543 | CV2942570 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1023G>A (p.Gly341=) | not provided [RCV003671729] | likely benign | 3 | 114351055 | 114351055 | Human | | name |
| 405077421 | CV2945269 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1719C>A (p.Gly573=) | not provided [RCV003664350] | likely benign | 3 | 114350359 | 114350359 | Human | | name |
| 402506901 | CV2947823 | indel | NM_001348800.3(ZBTB20):c.200-4_200-3delinsTT | not provided [RCV003662152] | likely benign|uncertain significance | 3 | 114351881 | 114351882 | Human | | name |
| 405139487 | CV2961831 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1245C>A (p.Ala415=) | not provided [RCV003673100] | benign | 3 | 114350833 | 114350833 | Human | | name |
| 405186870 | CV2963979 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1176G>A (p.Gln392=) | not provided [RCV003676764] | likely benign | 3 | 114350902 | 114350902 | Human | | name |
| 405239383 | CV2979726 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1227C>T (p.Pro409=) | not provided [RCV003683708] | likely benign | 3 | 114350851 | 114350851 | Human | | name |
| 405204895 | CV2990691 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1851A>G (p.Leu617=) | not provided [RCV003678606] | likely benign | 3 | 114339380 | 114339380 | Human | | name |
| 405138493 | CV3048767 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1587A>G (p.Pro529=) | not provided [RCV003725444] | benign | 3 | 114350491 | 114350491 | Human | | name |
| 405251080 | CV3049643 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1446C>G (p.Thr482=) | not provided [RCV003721801] | likely benign | 3 | 114350632 | 114350632 | Human | | name |
| 405253644 | CV3054237 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1797A>G (p.Val599=) | not provided [RCV003722546] | likely benign | 3 | 114350281 | 114350281 | Human | | name |
| 405149437 | CV3063542 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1080A>C (p.Thr360=) | not provided [RCV003726309] | likely benign | 3 | 114350998 | 114350998 | Human | | name |
| 405209314 | CV3117240 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1563C>T (p.Pro521=) | not provided [RCV003823027] | likely benign | 3 | 114350515 | 114350515 | Human | | name |
| 405202400 | CV3129068 | single nucleotide variant | NM_001348800.3(ZBTB20):c.2118G>C (p.Val706=) | not provided [RCV003822111] | likely benign | 3 | 114339113 | 114339113 | Human | | name |
| 405096093 | CV3139790 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1446C>T (p.Thr482=) | not provided [RCV003835201] | likely benign | 3 | 114350632 | 114350632 | Human | | name |
| 405038295 | CV3140899 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1551G>A (p.Ala517=) | not provided [RCV003831192] | likely benign | 3 | 114350527 | 114350527 | Human | | name |
| 405192374 | CV3146017 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1356C>T (p.Ser452=) | not provided [RCV003843564] | likely benign | 3 | 114350722 | 114350722 | Human | | name |
| 405201079 | CV3168744 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1635C>T (p.Pro545=) | not provided [RCV003860682] | likely benign | 3 | 114350443 | 114350443 | Human | | name |
| 404998807 | CV3173090 | single nucleotide variant | NM_001348800.3(ZBTB20):c.2136G>A (p.Gly712=) | not provided [RCV003882373] | likely benign | 3 | 114339095 | 114339095 | Human | | name |
| 402518507 | CV3179128 | single nucleotide variant | NM_001348800.3(ZBTB20):c.2073C>T (p.Pro691=) | not provided [RCV003879561] | likely benign | 3 | 114339158 | 114339158 | Human | | name |
| 405259167 | CV3194528 | single nucleotide variant | NM_001348800.3(ZBTB20):c.2154C>G (p.Ser718=) | ZBTB20-related disorder [RCV003893925] | likely benign | 3 | 114339077 | 114339077 | Human | | name , trait , alternate_id |
| 405295448 | CV3204704 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1188T>G (p.Pro396=) | ZBTB20-related disorder [RCV003937354] | likely benign | 3 | 114350890 | 114350890 | Human | | name , trait , alternate_id |
| 405803423 | CV3356804 | single nucleotide variant | NM_001348800.3(ZBTB20):c.126G>T (p.Leu42Phe) | Inborn genetic diseases [RCV004478806] | uncertain significance | 3 | 114380290 | 114380290 | Human | 1 | name |
| 597931747 | CV3742567 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1185G>T (p.Gly395=) | not provided [RCV005076006] | likely benign | 3 | 114350893 | 114350893 | Human | | name |
| 597931763 | CV3742569 | single nucleotide variant | NM_001348800.3(ZBTB20):c.237C>G (p.His79Gln) | not provided [RCV005076008] | uncertain significance | 3 | 114351841 | 114351841 | Human | | name |
| 597830757 | CV3743296 | single nucleotide variant | NM_001348800.3(ZBTB20):c.101C>T (p.Pro34Leu) | not provided [RCV005062304] | uncertain significance | 3 | 114380315 | 114380315 | Human | | name |
| 597874853 | CV3766230 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1566G>A (p.Lys522=) | not provided [RCV005108362] | likely benign | 3 | 114350512 | 114350512 | Human | | name |
| 597941964 | CV3769306 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1392G>A (p.Thr464=) | not provided [RCV005118801] | likely benign | 3 | 114350686 | 114350686 | Human | | name |
| 597910917 | CV3773542 | single nucleotide variant | NM_001348800.3(ZBTB20):c.155C>T (p.Thr52Ile) | not provided [RCV005113413] | uncertain significance | 3 | 114380261 | 114380261 | Human | | name |
| 597940616 | CV3789032 | insertion | NM_001348800.3(ZBTB20):c.1805-13_1805-12insG | not provided [RCV005133495] | likely benign | 3 | 114339438 | 114339439 | Human | | name |
| 597866003 | CV3792710 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1713G>A (p.Gly571=) | not provided [RCV005147517] | likely benign | 3 | 114350365 | 114350365 | Human | | name |
| 597959406 | CV3797557 | duplication | NM_001348800.3(ZBTB20):c.691dup (p.Tyr231fs) | not provided [RCV005138244] | pathogenic | 3 | 114351386 | 114351387 | Human | | name |
| 597910916 | CV3806691 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1026G>A (p.Gln342=) | not provided [RCV005154258] | likely benign | 3 | 114351052 | 114351052 | Human | | name |
| 597848423 | CV3824110 | single nucleotide variant | NM_001348800.3(ZBTB20):c.215A>G (p.Lys72Arg) | not provided [RCV005173349] | uncertain significance | 3 | 114351863 | 114351863 | Human | | name |
| 597876121 | CV3829786 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1317G>A (p.Val439=) | not provided [RCV005177494] | likely benign | 3 | 114350761 | 114350761 | Human | | name |
| 597965497 | CV3848225 | single nucleotide variant | NM_001348800.3(ZBTB20):c.2130G>A (p.Thr710=) | not provided [RCV005194105] | likely benign | 3 | 114339101 | 114339101 | Human | | name |
| 597878379 | CV3860395 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1341T>G (p.Thr447=) | not provided [RCV005198604] | likely benign | 3 | 114350737 | 114350737 | Human | | name |
| 598196504 | CV3930324 | single nucleotide variant | NM_001348800.3(ZBTB20):c.200G>A (p.Cys67Tyr) | Inborn genetic diseases [RCV005313527] | uncertain significance | 3 | 114351878 | 114351878 | Human | 1 | name |
| 617152032 | CV4018250 | single nucleotide variant | NM_001348800.3(ZBTB20):c.136C>G (p.Pro46Ala) | not specified [RCV005418510] | uncertain significance | 3 | 114380280 | 114380280 | Human | | name |
| 617152894 | CV4020882 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1941C>T (p.Ser647=) | not provided [RCV005428635] | likely benign | 3 | 114339290 | 114339290 | Human | | name |
| 12900227 | CV406087 | single nucleotide variant | NM_001348800.3(ZBTB20):c.152C>G (p.Ser51Ter) | Intellectual disability [RCV001260806]|not provided [RCV000481937] | likely benign|uncertain significance | 3 | 114380264 | 114380264 | Human | 2 | name |
| 15187771 | CV720088 | single nucleotide variant | NM_001348800.3(ZBTB20):c.2070C>A (p.Thr690=) | not provided [RCV000887345] | benign|likely benign | 3 | 114339161 | 114339161 | Human | | name |
| 15104184 | CV720089 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1563C>A (p.Pro521=) | not provided [RCV000892834] | likely benign | 3 | 114350515 | 114350515 | Human | | name |
| 15135157 | CV733695 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1404G>A (p.Gln468=) | not provided [RCV000898408] | benign|likely benign | 3 | 114350674 | 114350674 | Human | | name |
| 15123224 | CV733699 | single nucleotide variant | NM_001348800.3(ZBTB20):c.188G>A (p.Gly63Glu) | ZBTB20-related disorder [RCV003922877]|not provided [RCV000896375] | likely benign|uncertain significance | 3 | 114380228 | 114380228 | Human | 1 | name , trait , alternate_id |
| 15178691 | CV733700 | single nucleotide variant | NM_001348800.3(ZBTB20):c.154A>G (p.Thr52Ala) | ZBTB20-related disorder [RCV003923092]|not provided [RCV000906934]|not specified [RCV001796815] | benign | 3 | 114380262 | 114380262 | Human | 1 | name , trait , alternate_id |
| 15152122 | CV747894 | single nucleotide variant | NM_001348800.3(ZBTB20):c.2199C>T (p.His733=) | Primrose syndrome [RCV002495547]|ZBTB20-related disorder [RCV003942857]|not provided [RCV000923810] | benign|likely benign | 3 | 114339032 | 114339032 | Human | 1 | name , trait , alternate_id |
| 15137455 | CV747895 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1962C>T (p.Arg654=) | not provided [RCV000921175] | likely benign | 3 | 114339269 | 114339269 | Human | | name |
| 15145235 | CV747896 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1689C>T (p.Ser563=) | ZBTB20-related disorder [RCV003933111]|not provided [RCV000922507] | likely benign | 3 | 114350389 | 114350389 | Human | 1 | name , trait , alternate_id |
| 15199057 | CV747897 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1365C>T (p.Ser455=) | not provided [RCV000912435] | likely benign | 3 | 114350713 | 114350713 | Human | | name |
| 15143342 | CV781512 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1911T>C (p.Ser637=) | ZBTB20-related disorder [RCV003972992]|not provided [RCV000983311] | likely benign | 3 | 114339320 | 114339320 | Human | 1 | name , trait , alternate_id |
| 15136621 | CV781513 | single nucleotide variant | NM_001348800.3(ZBTB20):c.172T>C (p.Ser58Pro) | not provided [RCV000982144] | likely benign | 3 | 114380244 | 114380244 | Human | | name |
| 8625471 | CV80594 | single nucleotide variant | NM_001164342.2(ZBTB20):c.1042C>T (p.Leu348=) | Malignant melanoma [RCV000060671] | not provided | 3 | 114351036 | 114351036 | Human | | name |
| 40886804 | CV973325 | duplication | NM_001348800.3(ZBTB20):c.329dup (p.His111fs) | Inborn genetic diseases [RCV001266048] | pathogenic|uncertain significance | 3 | 114351748 | 114351749 | Human | 1 | name |
| 126726046 | CV1016140 | duplication | NM_001348800.3(ZBTB20):c.2075dup (p.Ala693fs) | Primrose syndrome [RCV001331752] | uncertain significance | 3 | 114339155 | 114339156 | Human | 1 | name |
| 126726053 | CV1016141 | single nucleotide variant | NM_001348800.3(ZBTB20):c.755T>C (p.Met252Thr) | Primrose syndrome [RCV001331755] | uncertain significance | 3 | 114351323 | 114351323 | Human | 1 | name |
| 126726051 | CV1016142 | single nucleotide variant | NM_001348800.3(ZBTB20):c.745G>A (p.Ala249Thr) | Primrose syndrome [RCV001331754] | uncertain significance | 3 | 114351333 | 114351333 | Human | 1 | name |
| 126726048 | CV1016143 | single nucleotide variant | NM_001348800.3(ZBTB20):c.641G>A (p.Gly214Asp) | Primrose syndrome [RCV001331753] | uncertain significance | 3 | 114351437 | 114351437 | Human | 1 | name |
| 150536248 | CV1298730 | single nucleotide variant | NM_001348800.3(ZBTB20):c.323T>A (p.Val108Glu) | not provided [RCV001760878] | uncertain significance | 3 | 114351755 | 114351755 | Human | | name |
| 150543898 | CV1304276 | single nucleotide variant | NM_001348800.3(ZBTB20):c.646C>T (p.Pro216Ser) | not provided [RCV001771246] | uncertain significance | 3 | 114351432 | 114351432 | Human | | name |
| 151355050 | CV1328117 | single nucleotide variant | NM_001348800.3(ZBTB20):c.491G>A (p.Arg164Gln) | Inborn genetic diseases [RCV002542587]|not provided [RCV002542586]|not specified [RCV001819593] | likely benign|uncertain significance | 3 | 114351587 | 114351587 | Human | 1 | name |
| 151662614 | CV1330477 | duplication | NM_001348800.3(ZBTB20):c.1727dup (p.Pro577fs) | Primrose syndrome [RCV001824014]|not provided [RCV003546730] | pathogenic|likely pathogenic | 3 | 114350350 | 114350351 | Human | 1 | name |
| 151861137 | CV1386168 | single nucleotide variant | NM_001348800.3(ZBTB20):c.845T>C (p.Met282Thr) | not provided [RCV001905293] | uncertain significance | 3 | 114351233 | 114351233 | Human | | name |
| 151768618 | CV1409568 | single nucleotide variant | NM_001348800.3(ZBTB20):c.659C>T (p.Thr220Met) | Inborn genetic diseases [RCV002553622]|not provided [RCV001896113] | likely benign|uncertain significance | 3 | 114351419 | 114351419 | Human | 1 | name |
| 152979509 | CV1675608 | single nucleotide variant | NM_001348800.3(ZBTB20):c.584A>G (p.Gln195Arg) | Primrose syndrome [RCV002244198] | uncertain significance | 3 | 114351494 | 114351494 | Human | 1 | name |
| 155268406 | CV1701798 | single nucleotide variant | NM_001348800.3(ZBTB20):c.744C>G (p.Tyr248Ter) | Primrose syndrome [RCV002284030] | likely pathogenic | 3 | 114351334 | 114351334 | Human | 1 | name |
| 155268728 | CV1705555 | single nucleotide variant | NM_001348800.3(ZBTB20):c.858C>G (p.Ser286Arg) | not provided [RCV002286161] | uncertain significance | 3 | 114351220 | 114351220 | Human | | name |
| 155798836 | CV1862186 | single nucleotide variant | NM_001348800.3(ZBTB20):c.942G>T (p.Gln314His) | Primrose syndrome [RCV002471590] | uncertain significance | 3 | 114351136 | 114351136 | Human | 1 | name |
| 156301856 | CV1955615 | single nucleotide variant | NM_001348800.3(ZBTB20):c.849A>C (p.Glu283Asp) | not provided [RCV002578261] | uncertain significance | 3 | 114351229 | 114351229 | Human | | name |
| 156109806 | CV1988665 | single nucleotide variant | NM_001348800.3(ZBTB20):c.701G>A (p.Ser234Asn) | Inborn genetic diseases [RCV002649420]|ZBTB20-related disorder [RCV003898461]|not provided [RCV002622530] | likely benign | 3 | 114351377 | 114351377 | Human | 2 | name , trait , alternate_id |
| 156354493 | CV2012104 | single nucleotide variant | NM_001348800.3(ZBTB20):c.340A>C (p.Met114Leu) | not provided [RCV002720425] | uncertain significance | 3 | 114351738 | 114351738 | Human | | name |
| 156009255 | CV2046559 | single nucleotide variant | NM_001348800.3(ZBTB20):c.595G>C (p.Asp199His) | not provided [RCV002756590] | benign | 3 | 114351483 | 114351483 | Human | | name |
| 156205349 | CV2073977 | duplication | NM_001348800.3(ZBTB20):c.1635dup (p.Gly546fs) | not provided [RCV002829094] | pathogenic|uncertain significance | 3 | 114350442 | 114350443 | Human | | name |
| 156252170 | CV2212418 | single nucleotide variant | NM_001348800.3(ZBTB20):c.971T>C (p.Val324Ala) | Inborn genetic diseases [RCV002702513]|not provided [RCV003777650] | likely benign|uncertain significance | 3 | 114351107 | 114351107 | Human | 1 | name |
| 156149541 | CV2213000 | duplication | NM_001348800.3(ZBTB20):c.1412dup (p.Ser472fs) | Inborn genetic diseases [RCV002697556] | pathogenic|uncertain significance | 3 | 114350665 | 114350666 | Human | 1 | name |
| 155923497 | CV2251976 | single nucleotide variant | NM_001348800.3(ZBTB20):c.680C>T (p.Thr227Met) | Inborn genetic diseases [RCV002773324] | uncertain significance | 3 | 114351398 | 114351398 | Human | 1 | name |
| 243050806 | CV2417619 | deletion | NM_001348800.3(ZBTB20):c.1024del (p.Gln342fs) | Primrose syndrome [RCV003152491] | pathogenic | 3 | 114351054 | 114351054 | Human | 1 | name |
| 329350540 | CV2477377 | single nucleotide variant | NM_001348800.3(ZBTB20):c.463A>T (p.Ile155Phe) | not provided [RCV003221702] | uncertain significance | 3 | 114351615 | 114351615 | Human | | name |
| 401728081 | CV2685817 | single nucleotide variant | NM_001348800.3(ZBTB20):c.952G>C (p.Val318Leu) | Inborn genetic diseases [RCV003270424] | uncertain significance | 3 | 114351126 | 114351126 | Human | 1 | name |
| 401721268 | CV2709894 | single nucleotide variant | NM_001348800.3(ZBTB20):c.684G>T (p.Glu228Asp) | Inborn genetic diseases [RCV003267525] | uncertain significance | 3 | 114351394 | 114351394 | Human | 1 | name |
| 401937731 | CV2796902 | single nucleotide variant | NM_001348800.3(ZBTB20):c.737C>A (p.Ala246Glu) | ZBTB20-related disorder [RCV003416825] | uncertain significance | 3 | 114351341 | 114351341 | Human | | name , trait , alternate_id |
| 401913160 | CV2830230 | single nucleotide variant | NM_001348800.3(ZBTB20):c.620C>G (p.Ser207Trp) | not provided [RCV003441445] | uncertain significance | 3 | 114351458 | 114351458 | Human | | name |
| 401914367 | CV2830597 | single nucleotide variant | NM_001348800.3(ZBTB20):c.437T>A (p.Val146Glu) | not provided [RCV003442335] | uncertain significance | 3 | 114351641 | 114351641 | Human | | name |
| 401946851 | CV2831649 | single nucleotide variant | NM_001348800.3(ZBTB20):c.598G>T (p.Val200Leu) | Primrose syndrome [RCV003445314] | uncertain significance | 3 | 114351480 | 114351480 | Human | 1 | name |
| 401947083 | CV2832262 | duplication | NM_001348800.3(ZBTB20):c.1431dup (p.Arg478fs) | Primrose syndrome [RCV003447787] | likely pathogenic | 3 | 114350646 | 114350647 | Human | 1 | name |
| 405225809 | CV2882152 | single nucleotide variant | NM_001348800.3(ZBTB20):c.341T>C (p.Met114Thr) | not provided [RCV003554612] | uncertain significance | 3 | 114351737 | 114351737 | Human | | name |
| 405058717 | CV2928980 | single nucleotide variant | NM_001348800.3(ZBTB20):c.619T>A (p.Ser207Thr) | not provided [RCV003580314] | uncertain significance | 3 | 114351459 | 114351459 | Human | | name |
| 405020483 | CV2992637 | single nucleotide variant | NM_001348800.3(ZBTB20):c.472A>G (p.Met158Val) | not provided [RCV003694783] | uncertain significance | 3 | 114351606 | 114351606 | Human | | name |
| 404979333 | CV3009552 | single nucleotide variant | NM_001348800.3(ZBTB20):c.854C>G (p.Pro285Arg) | not provided [RCV003690967] | uncertain significance | 3 | 114351224 | 114351224 | Human | | name |
| 405183613 | CV3057828 | single nucleotide variant | NM_001348800.3(ZBTB20):c.718G>T (p.Val240Leu) | not provided [RCV003729041] | uncertain significance | 3 | 114351360 | 114351360 | Human | | name |
| 405186544 | CV3124382 | single nucleotide variant | NM_001348800.3(ZBTB20):c.605C>T (p.Pro202Leu) | Inborn genetic diseases [RCV004366776]|not provided [RCV003820581] | uncertain significance | 3 | 114351473 | 114351473 | Human | 1 | name |
| 405175757 | CV3152282 | single nucleotide variant | NM_001348800.3(ZBTB20):c.908C>G (p.Ser303Cys) | not provided [RCV003858237] | likely benign | 3 | 114351170 | 114351170 | Human | | name |
| 405221131 | CV3157870 | single nucleotide variant | NM_001348800.3(ZBTB20):c.484G>A (p.Val162Met) | Inborn genetic diseases [RCV004676316]|Primrose syndrome [RCV004723518]|not provided [RCV003863562] | benign|likely benign|uncertain significance | 3 | 114351594 | 114351594 | Human | 2 | name |
| 405288630 | CV3193737 | single nucleotide variant | NM_001348800.3(ZBTB20):c.706C>T (p.Pro236Ser) | ZBTB20-related disorder [RCV003982743] | uncertain significance | 3 | 114351372 | 114351372 | Human | | name , trait , alternate_id |
| 405278422 | CV3221934 | single nucleotide variant | NM_001348800.3(ZBTB20):c.373G>T (p.Gly125Cys) | ZBTB20-related disorder [RCV003976481] | uncertain significance | 3 | 114351705 | 114351705 | Human | | name , trait , alternate_id |
| 405854936 | CV3395065 | duplication | NM_001348800.3(ZBTB20):c.1038dup (p.Ile347fs) | Primrose syndrome [RCV004555207] | likely pathogenic | 3 | 114351039 | 114351040 | Human | 1 | name |
| 408380795 | CV3501701 | single nucleotide variant | NM_001348800.3(ZBTB20):c.721G>T (p.Asp241Tyr) | not provided [RCV004729229] | pathogenic | 3 | 114351357 | 114351357 | Human | | name |
| 408393817 | CV3519943 | single nucleotide variant | NM_001348800.3(ZBTB20):c.907T>G (p.Ser303Ala) | not provided [RCV004764239] | uncertain significance | 3 | 114351171 | 114351171 | Human | | name |
| 408386803 | CV3524236 | single nucleotide variant | NM_001348800.3(ZBTB20):c.788G>A (p.Ser263Asn) | not provided [RCV004768110] | uncertain significance | 3 | 114351290 | 114351290 | Human | | name |
| 408392481 | CV3528145 | single nucleotide variant | NM_001348800.3(ZBTB20):c.896A>G (p.Glu299Gly) | not provided [RCV004775913] | uncertain significance | 3 | 114351182 | 114351182 | Human | | name |
| 408389527 | CV3529390 | single nucleotide variant | NM_001348800.3(ZBTB20):c.620C>T (p.Ser207Leu) | not provided [RCV004774212] | uncertain significance | 3 | 114351458 | 114351458 | Human | | name |
| 596931192 | CV3531525 | single nucleotide variant | NM_001348800.3(ZBTB20):c.629A>G (p.Asp210Gly) | not provided [RCV004781087] | uncertain significance | 3 | 114351449 | 114351449 | Human | | name |
| 596926536 | CV3536254 | single nucleotide variant | NM_001348800.3(ZBTB20):c.388C>T (p.Gln130Ter) | Primrose syndrome [RCV004789661] | pathogenic | 3 | 114351690 | 114351690 | Human | 1 | name |
| 596943934 | CV3543052 | single nucleotide variant | NM_001348800.3(ZBTB20):c.464T>C (p.Ile155Thr) | not provided [RCV004798637] | uncertain significance | 3 | 114351614 | 114351614 | Human | | name |
| 596939004 | CV3549946 | single nucleotide variant | NM_001348800.3(ZBTB20):c.416A>C (p.Asp139Ala) | not provided [RCV004812987] | uncertain significance | 3 | 114351662 | 114351662 | Human | | name |
| 597631342 | CV3627687 | single nucleotide variant | NM_001348800.3(ZBTB20):c.833G>A (p.Arg278His) | Inborn genetic diseases [RCV004967655] | uncertain significance | 3 | 114351245 | 114351245 | Human | 1 | name |
| 597920435 | CV3738079 | single nucleotide variant | NM_001348800.3(ZBTB20):c.612C>G (p.Ile204Met) | not provided [RCV005074678] | benign | 3 | 114351466 | 114351466 | Human | | name |
| 597948844 | CV3759214 | single nucleotide variant | NM_001348800.3(ZBTB20):c.638G>A (p.Arg213Gln) | not provided [RCV005079011] | uncertain significance | 3 | 114351440 | 114351440 | Human | | name |
| 597908415 | CV3773543 | single nucleotide variant | NM_001348800.3(ZBTB20):c.355C>A (p.Arg119Ser) | not provided [RCV005113414] | uncertain significance | 3 | 114351723 | 114351723 | Human | | name |
| 597908423 | CV3773544 | single nucleotide variant | NM_001348800.3(ZBTB20):c.548A>G (p.Lys183Arg) | not provided [RCV005113415] | uncertain significance | 3 | 114351530 | 114351530 | Human | | name |
| 597908431 | CV3773545 | single nucleotide variant | NM_001348800.3(ZBTB20):c.629A>C (p.Asp210Ala) | not provided [RCV005113416] | benign | 3 | 114351449 | 114351449 | Human | | name |
| 597964948 | CV3830649 | single nucleotide variant | NM_001348800.3(ZBTB20):c.835G>A (p.Asp279Asn) | not provided [RCV005164789] | uncertain significance | 3 | 114351243 | 114351243 | Human | | name |
| 12912832 | CV421412 | single nucleotide variant | NM_001348800.3(ZBTB20):c.616G>A (p.Asp206Asn) | not provided [RCV000493066]|not specified [RCV003403139] | likely pathogenic|uncertain significance | 3 | 114351462 | 114351462 | Human | | name |
| 13530602 | CV511449 | duplication | NM_001348800.3(ZBTB20):c.1256dup (p.Gly420fs) | Inborn genetic diseases [RCV000622625] | pathogenic|likely pathogenic | 3 | 114350821 | 114350822 | Human | 1 | name |
| 25317932 | CV805322 | deletion | NM_001348800.3(ZBTB20):c.1350del (p.Asn450fs) | not provided [RCV001008322] | likely pathogenic | 3 | 114350728 | 114350728 | Human | | name |
| 127251529 | CV1055282 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1882C>A (p.His628Asn) | Primrose syndrome [RCV002285175]|not provided [RCV001378576] | likely pathogenic | 3 | 114339349 | 114339349 | Human | 1 | name |
| 150333679 | CV1164204 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1794C>G (p.Phe598Leu) | Primrose syndrome [RCV004577956]|not provided [RCV001529053] | likely pathogenic | 3 | 114350284 | 114350284 | Human | 1 | name |
| 150529238 | CV1288792 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1211C>T (p.Ala404Val) | not provided [RCV001727260] | uncertain significance | 3 | 114350867 | 114350867 | Human | | name |
| 151235092 | CV1318351 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1166C>T (p.Ser389Leu) | not provided [RCV001794674] | uncertain significance | 3 | 114350912 | 114350912 | Human | | name |
| 151350023 | CV1324565 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1614G>C (p.Gln538His) | Primrose syndrome [RCV001809010] | uncertain significance | 3 | 114350464 | 114350464 | Human | 1 | name |
| 151844842 | CV1349627 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1636G>A (p.Gly546Ser) | not provided [RCV001936571] | uncertain significance | 3 | 114350442 | 114350442 | Human | | name |
| 9489920 | CV143128 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1768A>C (p.Lys590Gln) | Primrose syndrome [RCV000133615] | pathogenic | 3 | 114350310 | 114350310 | Human | 1 | name |
| 9686748 | CV143129 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1771C>G (p.Gln591Glu) | Primrose syndrome [RCV000149432] | pathogenic | 3 | 114350307 | 114350307 | Human | 1 | name |
| 9489917 | CV143130 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1787A>G (p.His596Arg) | Primrose syndrome [RCV000133612] | pathogenic | 3 | 114350291 | 114350291 | Human | 1 | name |
| 9686749 | CV143138 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1802C>T (p.Thr601Ile) | Primrose syndrome [RCV000149433]|not provided [RCV004721270] | pathogenic | 3 | 114350276 | 114350276 | Human | 1 | name |
| 9489919 | CV143139 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1805G>C (p.Gly602Ala) | Primrose syndrome [RCV000133614] | pathogenic | 3 | 114339426 | 114339426 | Human | 1 | name |
| 9686750 | CV143140 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1811A>C (p.Lys604Thr) | Inborn genetic diseases [RCV000190703]|Primrose syndrome [RCV000149434] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity | 3 | 114339420 | 114339420 | Human | 2 | name |
| 9489918 | CV143141 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1861C>T (p.Leu621Phe) | Primrose syndrome [RCV000133613] | pathogenic | 3 | 114339370 | 114339370 | Human | 1 | name |
| 9686751 | CV143142 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1876G>A (p.Val626Met) | Primrose syndrome [RCV000149435] | pathogenic | 3 | 114339355 | 114339355 | Human | 1 | name |
| 152102712 | CV1667312 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1783A>G (p.Lys595Glu) | not provided [RCV002214299] | likely pathogenic | 3 | 114350295 | 114350295 | Human | | name |
| 152031945 | CV1671043 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1835G>A (p.Trp612Ter) | Primrose syndrome [RCV002226580] | uncertain significance | 3 | 114339396 | 114339396 | Human | 1 | name |
| 152979965 | CV1678316 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1817A>G (p.His606Arg) | Primrose syndrome [RCV002246821] | pathogenic | 3 | 114339414 | 114339414 | Human | 1 | name |
| 153001068 | CV1684302 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1916G>T (p.Cys639Phe) | Primrose syndrome [RCV002255781] | pathogenic | 3 | 114339315 | 114339315 | Human | 1 | name |
| 153302495 | CV1688281 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1672C>A (p.Gln558Lys) | not provided [RCV002265507] | uncertain significance | 3 | 114350406 | 114350406 | Human | | name |
| 153302014 | CV1689409 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1423C>A (p.Leu475Ile) | not provided [RCV002267359] | uncertain significance | 3 | 114350655 | 114350655 | Human | | name |
| 153349167 | CV1694012 | single nucleotide variant | NM_001348800.3(ZBTB20):c.2114G>T (p.Gly705Val) | Primrose syndrome [RCV002275559]|not provided [RCV003101569] | uncertain significance | 3 | 114339117 | 114339117 | Human | 1 | name |
| 153346948 | CV1694292 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1775A>G (p.Asn592Ser) | Neurodevelopmental disorder [RCV002277708] | likely pathogenic | 3 | 114350303 | 114350303 | Human | 1 | name |
| 155642987 | CV1707628 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1838G>T (p.Arg613Leu) | Primrose syndrome [RCV002289089] | likely pathogenic | 3 | 114339393 | 114339393 | Human | 1 | name |
| 155644950 | CV1710479 | single nucleotide variant | NM_001348800.3(ZBTB20):c.2099G>C (p.Arg700Pro) | not provided [RCV002293775] | uncertain significance | 3 | 114339132 | 114339132 | Human | | name |
| 155712883 | CV1760256 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1739G>A (p.Cys580Tyr) | not provided [RCV002300762] | pathogenic | 3 | 114350339 | 114350339 | Human | | name |
| 155713758 | CV1760299 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1871A>C (p.His624Pro) | not provided [RCV002300805] | pathogenic | 3 | 114339360 | 114339360 | Human | | name |
| 155795683 | CV1861443 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1795G>T (p.Val599Leu) | ZBTB20-related disorder [RCV004754880]|not provided [RCV002469725] | pathogenic|likely pathogenic | 3 | 114350283 | 114350283 | Human | 1 | name , trait , alternate_id |
| 155797518 | CV1863363 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1613A>C (p.Gln538Pro) | Primrose syndrome [RCV002470638] | likely benign | 3 | 114350465 | 114350465 | Human | 1 | name |
| 156056297 | CV1879596 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1192G>A (p.Ala398Thr) | Inborn genetic diseases [RCV004070313]|not provided [RCV003053176] | likely benign|uncertain significance | 3 | 114350886 | 114350886 | Human | 1 | name |
| 156416790 | CV1898157 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1690G>A (p.Ala564Thr) | not provided [RCV002610362] | benign | 3 | 114350388 | 114350388 | Human | | name |
| 156261388 | CV1902700 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1225C>T (p.Pro409Ser) | not provided [RCV003086452] | uncertain significance | 3 | 114350853 | 114350853 | Human | | name |
| 156448947 | CV1948258 | single nucleotide variant | NM_001348800.3(ZBTB20):c.2099G>A (p.Arg700His) | not provided [RCV003121055] | uncertain significance | 3 | 114339132 | 114339132 | Human | | name |
| 156331495 | CV1954130 | single nucleotide variant | NM_001348800.3(ZBTB20):c.2098C>T (p.Arg700Cys) | not provided [RCV002580025] | uncertain significance | 3 | 114339133 | 114339133 | Human | | name |
| 156033468 | CV2037098 | single nucleotide variant | NM_001348800.3(ZBTB20):c.2192A>G (p.Asn731Ser) | not provided [RCV002781207] | uncertain significance | 3 | 114339039 | 114339039 | Human | | name |
| 156222955 | CV2037780 | single nucleotide variant | NM_001348800.3(ZBTB20):c.2155G>A (p.Val719Ile) | not provided [RCV002790697] | likely benign | 3 | 114339076 | 114339076 | Human | | name |
| 156172524 | CV2053427 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1382C>G (p.Ser461Trp) | not provided [RCV002801992] | likely benign | 3 | 114350696 | 114350696 | Human | | name |
| 155960654 | CV2080424 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1852A>G (p.Lys618Glu) | not provided [RCV002862841] | pathogenic | 3 | 114339379 | 114339379 | Human | | name |
| 155948165 | CV2087745 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1860C>G (p.Tyr620Ter) | not provided [RCV002880348] | pathogenic|uncertain significance | 3 | 114339371 | 114339371 | Human | | name |
| 10449852 | CV215267 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1164C>G (p.Asp388Glu) | Inborn genetic diseases [RCV004020494]|Primrose syndrome [RCV000987304]|ZBTB20-related disorder [RCV003937762]|not provided [RCV000962983]|not specified [RCV000203012] | benign|likely benign | 3 | 114350914 | 114350914 | Human | 2 | name , trait , alternate_id |
| 156238038 | CV2155920 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1799A>G (p.His600Arg) | not provided [RCV003007995] | likely pathogenic | 3 | 114350279 | 114350279 | Human | | name |
| 156036297 | CV2178548 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1493A>G (p.Gln498Arg) | not provided [RCV003036389] | likely benign | 3 | 114350585 | 114350585 | Human | | name |
| 156394925 | CV2181939 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1823G>A (p.Cys608Tyr) | not provided [RCV003051760] | uncertain significance | 3 | 114339408 | 114339408 | Human | | name |
| 156031433 | CV2182170 | single nucleotide variant | NM_001348800.3(ZBTB20):c.2111C>T (p.Pro704Leu) | not provided [RCV003036201] | uncertain significance | 3 | 114339120 | 114339120 | Human | | name |
| 156092944 | CV2183326 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1147A>G (p.Ile383Val) | not provided [RCV003054428] | likely benign | 3 | 114350931 | 114350931 | Human | | name |
| 156343822 | CV2186129 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1094G>T (p.Gly365Val) | not provided [RCV003047896] | uncertain significance | 3 | 114350984 | 114350984 | Human | | name |
| 156059218 | CV2239315 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1243G>A (p.Ala415Thr) | Inborn genetic diseases [RCV002782497] | uncertain significance | 3 | 114350835 | 114350835 | Human | 1 | name |
| 156242696 | CV2246269 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1087G>A (p.Ala363Thr) | Inborn genetic diseases [RCV002768361]|not provided [RCV005099641] | uncertain significance | 3 | 114350991 | 114350991 | Human | 1 | name |
| 156177919 | CV2298251 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1286G>A (p.Gly429Asp) | Inborn genetic diseases [RCV002891794]|not provided [RCV003777902] | uncertain significance | 3 | 114350792 | 114350792 | Human | 1 | name |
| 243062116 | CV2414322 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1055A>T (p.Glu352Val) | Primrose syndrome [RCV003139391] | uncertain significance | 3 | 114351023 | 114351023 | Human | 1 | name |
| 243062117 | CV2414323 | single nucleotide variant | NM_001348800.3(ZBTB20):c.2090C>T (p.Pro697Leu) | Inborn genetic diseases [RCV004246089]|Primrose syndrome [RCV003139392]|ZBTB20-related disorder [RCV004754970]|not provided [RCV003730405] | likely benign|uncertain significance | 3 | 114339141 | 114339141 | Human | 2 | name , trait , alternate_id |
| 243050492 | CV2415506 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1845C>G (p.Phe615Leu) | Primrose syndrome [RCV003148083] | uncertain significance | 3 | 114339386 | 114339386 | Human | 1 | name |
| 243053011 | CV2416252 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1906T>C (p.Cys636Arg) | not provided [RCV003149313] | pathogenic | 3 | 114339325 | 114339325 | Human | | name |
| 243050809 | CV2417620 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1931C>T (p.Thr644Ile) | Primrose syndrome [RCV003152492] | pathogenic|uncertain significance | 3 | 114339300 | 114339300 | Human | 1 | name |
| 153303485 | CV247523 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1847C>T (p.Ser616Phe) | not provided [RCV002269266] | likely pathogenic | 3 | 114339384 | 114339384 | Human | | name |
| 401767618 | CV2727222 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1156G>C (p.Glu386Gln) | Inborn genetic diseases [RCV003282923] | uncertain significance | 3 | 114350922 | 114350922 | Human | 1 | name |
| 401829738 | CV2743945 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1832G>A (p.Cys611Tyr) | not provided [RCV003327122] | pathogenic | 3 | 114339399 | 114339399 | Human | | name |
| 405291256 | CV2747741 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1948A>C (p.Asn650His) | Primrose syndrome [RCV003985031] | likely pathogenic | 3 | 114339283 | 114339283 | Human | 1 | name |
| 401891175 | CV2774905 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1739G>T (p.Cys580Phe) | Inborn genetic diseases [RCV003354798] | likely pathogenic | 3 | 114350339 | 114350339 | Human | 1 | name |
| 401915736 | CV2795339 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1845C>A (p.Phe615Leu) | Neurodevelopmental disorder [RCV003389174] | uncertain significance | 3 | 114339386 | 114339386 | Human | 1 | name |
| 401915793 | CV2795350 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1862T>G (p.Leu621Arg) | Neurodevelopmental disorder [RCV003389185] | likely pathogenic | 3 | 114339369 | 114339369 | Human | 1 | name |
| 401912423 | CV2824839 | single nucleotide variant | NM_001348800.3(ZBTB20):c.2068A>C (p.Thr690Pro) | not provided [RCV003427288] | uncertain significance | 3 | 114339163 | 114339163 | Human | | name |
| 401945565 | CV2839641 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1643C>T (p.Ser548Leu) | Primrose syndrome [RCV003458283] | uncertain significance | 3 | 114350435 | 114350435 | Human | 1 | name |
| 402516864 | CV2874531 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1399G>C (p.Gly467Arg) | not provided [RCV003547465] | uncertain significance | 3 | 114350679 | 114350679 | Human | | name |
| 402518447 | CV2877216 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1265A>G (p.Gln422Arg) | not provided [RCV003575666] | likely benign|uncertain significance | 3 | 114350813 | 114350813 | Human | | name |
| 405119389 | CV2891488 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1275G>C (p.Gln425His) | not provided [RCV003558897] | uncertain significance | 3 | 114350803 | 114350803 | Human | | name |
| 402472843 | CV2908712 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1667C>G (p.Ala556Gly) | not provided [RCV003570872] | uncertain significance | 3 | 114350411 | 114350411 | Human | | name |
| 402468703 | CV2930699 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1755G>T (p.Lys585Asn) | not provided [RCV003569964] | uncertain significance | 3 | 114350323 | 114350323 | Human | | name |
| 402524485 | CV2937044 | single nucleotide variant | NM_001348800.3(ZBTB20):c.2116G>A (p.Val706Met) | not provided [RCV003663551] | benign|uncertain significance | 3 | 114339115 | 114339115 | Human | | name |
| 405121497 | CV2952258 | single nucleotide variant | NM_001348800.3(ZBTB20):c.2182G>A (p.Glu728Lys) | not provided [RCV003671379] | uncertain significance | 3 | 114339049 | 114339049 | Human | | name |
| 405116604 | CV2961668 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1307G>A (p.Ser436Asn) | not provided [RCV003671016] | uncertain significance | 3 | 114350771 | 114350771 | Human | | name |
| 405190022 | CV2964677 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1747T>C (p.Cys583Arg) | not provided [RCV003677116] | likely pathogenic | 3 | 114350331 | 114350331 | Human | | name |
| 405191782 | CV2984876 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1693G>A (p.Gly565Ser) | not provided [RCV003706530] | benign | 3 | 114350385 | 114350385 | Human | | name |
| 405174751 | CV3023499 | single nucleotide variant | NM_001348800.3(ZBTB20):c.2041G>T (p.Val681Leu) | not provided [RCV003704995] | uncertain significance | 3 | 114339190 | 114339190 | Human | | name |
| 405088514 | CV3024916 | single nucleotide variant | NM_001348800.3(ZBTB20):c.2080G>A (p.Gly694Ser) | not provided [RCV003699504] | likely benign | 3 | 114339151 | 114339151 | Human | | name |
| 405124897 | CV3043301 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1879A>G (p.Thr627Ala) | not provided [RCV003724210] | pathogenic | 3 | 114339352 | 114339352 | Human | | name |
| 402503783 | CV3081756 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1967A>G (p.His656Arg) | Primrose syndrome [RCV003779383] | pathogenic | 3 | 114339264 | 114339264 | Human | 1 | name |
| 405134371 | CV3115572 | single nucleotide variant | NM_001348800.3(ZBTB20):c.2129C>T (p.Thr710Met) | not provided [RCV003816229] | uncertain significance | 3 | 114339102 | 114339102 | Human | | name |
| 404981630 | CV3124832 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1636G>T (p.Gly546Cys) | not provided [RCV003826179] | uncertain significance | 3 | 114350442 | 114350442 | Human | | name |
| 405171013 | CV3150050 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1432C>G (p.Arg478Gly) | not provided [RCV003841521] | likely benign | 3 | 114350646 | 114350646 | Human | | name |
| 405174824 | CV3150582 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1019A>G (p.Tyr340Cys) | not provided [RCV003841856] | uncertain significance | 3 | 114351059 | 114351059 | Human | | name |
| 405078458 | CV3156342 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1745T>G (p.Leu582Arg) | not provided [RCV003851400] | uncertain significance | 3 | 114350333 | 114350333 | Human | | name |
| 405090851 | CV3167889 | single nucleotide variant | NM_001348800.3(ZBTB20):c.2167A>G (p.Lys723Glu) | not provided [RCV003852279] | uncertain significance | 3 | 114339064 | 114339064 | Human | | name |
| 405196351 | CV3168140 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1552G>A (p.Gly518Ser) | not provided [RCV003860272] | likely benign | 3 | 114350526 | 114350526 | Human | | name |
| 405254097 | CV3174976 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1365C>A (p.Ser455Arg) | not provided [RCV003871428] | likely benign | 3 | 114350713 | 114350713 | Human | | name |
| 405288575 | CV3197460 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1138A>G (p.Ser380Gly) | ZBTB20-related disorder [RCV003982556] | uncertain significance | 3 | 114350940 | 114350940 | Human | | name , trait , alternate_id |
| 405269909 | CV3198019 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1915T>C (p.Cys639Arg) | ZBTB20-related disorder [RCV003899830] | likely pathogenic | 3 | 114339316 | 114339316 | Human | | name , trait , alternate_id |
| 405803425 | CV3356805 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1391C>A (p.Thr464Lys) | Inborn genetic diseases [RCV004478807]|not provided [RCV005104780] | benign|uncertain significance | 3 | 114350687 | 114350687 | Human | 1 | name |
| 405803427 | CV3356806 | single nucleotide variant | NM_001348800.3(ZBTB20):c.2065G>C (p.Gly689Arg) | Inborn genetic diseases [RCV004478808]|not provided [RCV005104781] | uncertain significance | 3 | 114339166 | 114339166 | Human | 1 | name |
| 407425328 | CV3411198 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1165T>G (p.Ser389Ala) | not provided [RCV004588889] | uncertain significance | 3 | 114350913 | 114350913 | Human | | name |
| 407489190 | CV3415181 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1714C>T (p.Gln572Ter) | not provided [RCV004597517] | likely pathogenic | 3 | 114350364 | 114350364 | Human | | name |
| 407529819 | CV3494010 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1229A>T (p.Glu410Val) | Inborn genetic diseases [RCV004681112] | uncertain significance | 3 | 114350849 | 114350849 | Human | 1 | name |
| 407508883 | CV3496413 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1904A>G (p.Gln635Arg) | not provided [RCV004698254] | likely pathogenic | 3 | 114339327 | 114339327 | Human | | name |
| 407508894 | CV3496414 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1437G>C (p.Gln479His) | not provided [RCV004698255] | uncertain significance | 3 | 114350641 | 114350641 | Human | | name |
| 408384780 | CV3503297 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1492C>A (p.Gln498Lys) | ZBTB20-related disorder [RCV004732015] | uncertain significance | 3 | 114350586 | 114350586 | Human | | name , trait , alternate_id |
| 408384097 | CV3520026 | single nucleotide variant | NM_001348800.3(ZBTB20):c.2211T>A (p.His737Gln) | not provided [RCV004759847] | uncertain significance | 3 | 114339020 | 114339020 | Human | | name |
| 408391080 | CV3521190 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1915T>G (p.Cys639Gly) | not provided [RCV004763012] | pathogenic | 3 | 114339316 | 114339316 | Human | | name |
| 408381786 | CV3523977 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1784A>G (p.Lys595Arg) | not provided [RCV004766375] | uncertain significance | 3 | 114350294 | 114350294 | Human | | name |
| 408392741 | CV3525340 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1357G>A (p.Asp453Asn) | not provided [RCV004771226] | uncertain significance | 3 | 114350721 | 114350721 | Human | | name |
| 596931413 | CV3531749 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1177C>T (p.Gln393Ter) | not provided [RCV004781311] | pathogenic | 3 | 114350901 | 114350901 | Human | | name |
| 596921661 | CV3535283 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1549G>T (p.Ala517Ser) | not provided [RCV004784842] | uncertain significance | 3 | 114350529 | 114350529 | Human | | name |
| 596926543 | CV3536256 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1897G>A (p.Ala633Thr) | Primrose syndrome [RCV004789663] | likely pathogenic | 3 | 114339334 | 114339334 | Human | 1 | name |
| 596924910 | CV3541719 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1738T>G (p.Cys580Gly) | Primrose syndrome [RCV004795430] | likely pathogenic | 3 | 114350340 | 114350340 | Human | 1 | name |
| 596939186 | CV3544520 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1805G>T (p.Gly602Val) | Primrose syndrome [RCV004805149] | likely pathogenic | 3 | 114339426 | 114339426 | Human | 1 | name |
| 12791762 | CV362137 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1786C>T (p.His596Tyr) | Primrose syndrome [RCV000416447]|not provided [RCV001861466] | pathogenic | 3 | 114350292 | 114350292 | Human | 1 | name |
| 597631340 | CV3627686 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1365C>G (p.Ser455Arg) | Inborn genetic diseases [RCV004967654] | likely benign | 3 | 114350713 | 114350713 | Human | 1 | name |
| 597631344 | CV3627688 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1768A>G (p.Lys590Glu) | Inborn genetic diseases [RCV004967656] | likely pathogenic | 3 | 114350310 | 114350310 | Human | 1 | name |
| 12849993 | CV367113 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1766C>A (p.Ala589Asp) | not provided [RCV000439684] | likely pathogenic | 3 | 114350312 | 114350312 | Human | | name |
| 597919718 | CV3737993 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1135G>A (p.Val379Ile) | not provided [RCV005074592] | uncertain significance | 3 | 114350943 | 114350943 | Human | | name |
| 597912086 | CV3745691 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1085A>G (p.Gln362Arg) | not provided [RCV005073692] | uncertain significance | 3 | 114350993 | 114350993 | Human | | name |
| 597955997 | CV3754517 | single nucleotide variant | NM_001348800.3(ZBTB20):c.2119G>T (p.Val707Leu) | not provided [RCV005080367] | uncertain significance | 3 | 114339112 | 114339112 | Human | | name |
| 597908444 | CV3773546 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1177C>A (p.Gln393Lys) | not provided [RCV005113417] | uncertain significance | 3 | 114350901 | 114350901 | Human | | name |
| 597908455 | CV3773547 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1366G>T (p.Val456Phe) | not provided [RCV005113418] | uncertain significance | 3 | 114350712 | 114350712 | Human | | name |
| 597908468 | CV3773549 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1534T>A (p.Phe512Ile) | not provided [RCV005113420] | uncertain significance | 3 | 114350544 | 114350544 | Human | | name |
| 597908476 | CV3773550 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1561C>T (p.Pro521Ser) | not provided [RCV005113421] | uncertain significance | 3 | 114350517 | 114350517 | Human | | name |
| 597908484 | CV3773551 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1754A>C (p.Lys585Thr) | not provided [RCV005113422] | uncertain significance | 3 | 114350324 | 114350324 | Human | | name |
| 597908493 | CV3773552 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1787A>C (p.His596Pro) | not provided [RCV005113423] | pathogenic | 3 | 114350291 | 114350291 | Human | | name |
| 597897813 | CV3806869 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1550C>T (p.Ala517Val) | not provided [RCV005152256] | uncertain significance | 3 | 114350528 | 114350528 | Human | | name |
| 597961756 | CV3812228 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1048C>T (p.Arg350Cys) | not provided [RCV005163881] | uncertain significance | 3 | 114351030 | 114351030 | Human | | name |
| 597951608 | CV3815368 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1249G>A (p.Ala417Thr) | not provided [RCV005161318] | uncertain significance | 3 | 114350829 | 114350829 | Human | | name |
| 597951876 | CV3815454 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1597G>T (p.Ala533Ser) | not provided [RCV005161404] | uncertain significance | 3 | 114350481 | 114350481 | Human | | name |
| 597831024 | CV3820229 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1550C>G (p.Ala517Gly) | not provided [RCV005170006] | uncertain significance | 3 | 114350528 | 114350528 | Human | | name |
| 597940947 | CV3836650 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1607A>C (p.Gln536Pro) | not provided [RCV005187671] | uncertain significance | 3 | 114350471 | 114350471 | Human | | name |
| 597965096 | CV3848257 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1225C>A (p.Pro409Thr) | not provided [RCV005194137] | likely benign | 3 | 114350853 | 114350853 | Human | | name |
| 598126700 | CV3882155 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1911T>G (p.Ser637Arg) | not provided [RCV005233706] | uncertain significance | 3 | 114339320 | 114339320 | Human | | name |
| 598129299 | CV3888593 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1688C>T (p.Ser563Phe) | not provided [RCV005244767] | uncertain significance | 3 | 114350390 | 114350390 | Human | | name |
| 598225379 | CV3892353 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1886C>G (p.Thr629Arg) | Primrose syndrome [RCV005254188] | likely pathogenic | 3 | 114339345 | 114339345 | Human | 1 | name |
| 598243109 | CV3930325 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1228G>A (p.Glu410Lys) | Inborn genetic diseases [RCV005297231] | likely benign | 3 | 114350850 | 114350850 | Human | 1 | name |
| 598243112 | CV3930326 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1504A>G (p.Thr502Ala) | Inborn genetic diseases [RCV005297232] | uncertain significance | 3 | 114350574 | 114350574 | Human | 1 | name |
| 598243117 | CV3930327 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1016A>G (p.Tyr339Cys) | Inborn genetic diseases [RCV005297233] | uncertain significance | 3 | 114351062 | 114351062 | Human | 1 | name |
| 12894873 | CV406085 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1873A>G (p.Met625Val) | Inborn genetic diseases [RCV001266966]|Primrose syndrome [RCV003766696]|See cases [RCV002252137]|not provided [RCV000484460] | pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records | 3 | 114339358 | 114339358 | Human | 2 | name |
| 12893196 | CV406086 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1802C>A (p.Thr601Lys) | not provided [RCV000478089] | likely pathogenic | 3 | 114350276 | 114350276 | Human | | name |
| 13533124 | CV511446 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1885A>G (p.Thr629Ala) | Inborn genetic diseases [RCV000624891] | likely pathogenic|uncertain significance | 3 | 114339346 | 114339346 | Human | 1 | name |
| 13531625 | CV511447 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1869G>C (p.Lys623Asn) | Inborn genetic diseases [RCV000623494] | pathogenic|uncertain significance | 3 | 114339362 | 114339362 | Human | 1 | name |
| 13531044 | CV511448 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1779C>G (p.Tyr593Ter) | Inborn genetic diseases [RCV000622998] | uncertain significance | 3 | 114350299 | 114350299 | Human | 1 | name |
| 13807147 | CV576328 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1955A>T (p.His652Leu) | Autistic behavior [RCV000710049] | likely pathogenic | 3 | 114339276 | 114339276 | Human | 2 | name |
| 14393302 | CV610373 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1800C>G (p.His600Gln) | Primrose syndrome [RCV000757893] | pathogenic | 3 | 114350278 | 114350278 | Human | 1 | name |
| 14399372 | CV614642 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1822T>C (p.Cys608Arg) | Primrose syndrome [RCV003768308]|not provided [RCV000768548] | pathogenic|likely pathogenic | 3 | 114339409 | 114339409 | Human | 1 | name |
| 14691213 | CV621949 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1099G>C (p.Glu367Gln) | not provided [RCV000782006] | likely benign | 3 | 114350979 | 114350979 | Human | | name |
| 15173353 | CV626433 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1955A>G (p.His652Arg) | Primrose syndrome [RCV000984029] | pathogenic | 3 | 114339276 | 114339276 | Human | 1 | name |
| 15173361 | CV626434 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1939A>C (p.Ser647Arg) | Intellectual disability [RCV001260823]|Primrose syndrome [RCV000984032]|not provided [RCV001873236] | pathogenic|uncertain significance | 3 | 114339292 | 114339292 | Human | 3 | name |
| 14976688 | CV626435 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1862T>C (p.Leu621Pro) | Marfanoid habitus and intellectual disability [RCV000850409]|Primrose syndrome [RCV000984033] | pathogenic|likely pathogenic | 3 | 114339369 | 114339369 | Human | 2 | name |
| 15173352 | CV626436 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1837C>T (p.Arg613Cys) | Primrose syndrome [RCV000984028]|not provided [RCV004721598] | pathogenic | 3 | 114339394 | 114339394 | Human | 1 | name |
| 15173357 | CV626437 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1817A>C (p.His606Pro) | Intellectual disability [RCV001260847]|Primrose syndrome [RCV000984030] | pathogenic | 3 | 114339414 | 114339414 | Human | 3 | name |
| 15173349 | CV626438 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1760T>G (p.Phe587Cys) | Intellectual disability [RCV001260820]|Primrose syndrome [RCV000984027] | pathogenic | 3 | 114350318 | 114350318 | Human | 3 | name |
| 14746793 | CV672048 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1805G>A (p.Gly602Asp) | Primrose syndrome [RCV000845023] | uncertain significance|not provided | 3 | 114339426 | 114339426 | Human | 1 | name |
| 15172807 | CV697765 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1318G>A (p.Glu440Lys) | Primrose syndrome [RCV000987303]|not provided [RCV000950107]|not specified [RCV001818958] | benign|likely benign | 3 | 114350760 | 114350760 | Human | 1 | name |
| 15136800 | CV733694 | single nucleotide variant | NM_001348800.3(ZBTB20):c.2078C>T (p.Ala693Val) | ZBTB20-related disorder [RCV003958101]|not provided [RCV000898690]|not specified [RCV001818735] | benign|likely benign | 3 | 114339153 | 114339153 | Human | 1 | name , trait , alternate_id |
| 15185643 | CV733696 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1366G>C (p.Val456Leu) | Inborn genetic diseases [RCV004962932]|ZBTB20-related disorder [RCV004754623]|not provided [RCV000908585] | benign|likely benign|uncertain significance | 3 | 114350712 | 114350712 | Human | 2 | name , trait , alternate_id |
| 15135165 | CV733697 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1250C>G (p.Ala417Gly) | Inborn genetic diseases [RCV002540167]|not provided [RCV000898409] | benign|likely benign | 3 | 114350828 | 114350828 | Human | 1 | name |
| 21071223 | CV790316 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1734T>A (p.Tyr578Ter) | Primrose syndrome [RCV000987302] | likely pathogenic | 3 | 114350344 | 114350344 | Human | 1 | name |
| 21068618 | CV795309 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1813C>T (p.Pro605Ser) | not provided [RCV000998123] | likely pathogenic | 3 | 114339418 | 114339418 | Human | | name |
| 40886505 | CV917745 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1916G>A (p.Cys639Tyr) | Primrose syndrome [RCV001265620] | pathogenic | 3 | 114339315 | 114339315 | Human | 1 | name |
| 38596920 | CV963532 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1788C>G (p.His596Gln) | Primrose syndrome [RCV001252639] | likely pathogenic | 3 | 114350290 | 114350290 | Human | 1 | name |
| 40886647 | CV973324 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1801A>G (p.Thr601Ala) | Inborn genetic diseases [RCV001265838] | uncertain significance | 3 | 114350277 | 114350277 | Human | 1 | name |
| 40889650 | CV975091 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1949A>T (p.Asn650Ile) | not provided [RCV001268057] | likely pathogenic | 3 | 114339282 | 114339282 | Human | | name |
| 126733168 | CV989164 | single nucleotide variant | NM_001348800.3(ZBTB20):c.1844T>C (p.Phe615Ser) | not provided [RCV001294689] | uncertain significance | 3 | 114339387 | 114339387 | Human | | name |
| 408377126 | CV3501498 | deletion | NM_001348800.3(ZBTB20):c.348_361del (p.His118fs) | Primrose syndrome [RCV004727579] | likely pathogenic | 3 | 114351717 | 114351730 | Human | 1 | name |
| 408369997 | CV3502959 | microsatellite | NM_001348800.3(ZBTB20):c.1060GAG[1] (p.Glu355del) | not provided [RCV004724080] | uncertain significance | 3 | 114351013 | 114351015 | Human | | name |
| 598122691 | CV3884623 | deletion | NM_001348800.3(ZBTB20):c.-254-14498_-254-10614del | not specified [RCV005237315] | uncertain significance | 3 | 114399719 | 114403603 | Human | | name |
| 153348376 | CV1692318 | deletion | NM_001348800.3(ZBTB20):c.1499_1511del (p.Ile500fs) | Intellectual disability [RCV002273868] | likely pathogenic | 3 | 114350567 | 114350579 | Human | 2 | name |
| 598220496 | CV3891809 | deletion | NM_001348800.3(ZBTB20):c.1847_1849del (p.Ser616del) | Primrose syndrome [RCV005253147] | likely pathogenic | 3 | 114339382 | 114339384 | Human | 1 | name |
| 15173360 | CV626439 | indel | NM_001348800.3(ZBTB20):c.391_397delinsAA (p.Asp131fs) | Intellectual disability [RCV001260835]|Primrose syndrome [RCV000984031] | pathogenic|likely pathogenic | 3 | 114351681 | 114351687 | Human | | name |
| 405218524 | CV2907588 | microsatellite | NM_001348800.3(ZBTB20):c.438GTCAGTGCA[1] (p.147SVQ[1]) | not provided [RCV003568095] | uncertain significance | 3 | 114351623 | 114351631 | Human | | name |
| 597676966 | CV3703355 | insertion | NM_001348800.3(ZBTB20):c.1428_1429insGTAG (p.Leu477fs) | Primrose syndrome [RCV004949868] | likely pathogenic | 3 | 114350649 | 114350650 | Human | 1 | name |
| 152980876 | CV1676193 | indel | NM_001348800.3(ZBTB20):c.1549_1550delinsAT (p.Ala517Met) | Primrose syndrome [RCV002245269] | likely pathogenic | 3 | 114350528 | 114350529 | Human | | name |
| 405060076 | CV2928979 | microsatellite | NM_001348800.3(ZBTB20):c.621_622insCCGCGGGGCACTGGGG (p.Gly208fs) | not provided [RCV003580313] | pathogenic | 3 | 114351456 | 114351457 | Human | | name |
