| 126747066 | CV1017766 | single nucleotide variant | NM_003403.5(YY1):c.-5C>T | Gabriele de Vries syndrome [RCV001331053] | uncertain significance | 14 | 100239240 | 100239240 | Human | 1 | name |
| 405269645 | CV3201773 | single nucleotide variant | NM_003403.5(YY1):c.*9G>A | YY1-related disorder [RCV003899679] | likely benign | 14 | 100277609 | 100277609 | Human | | name , trait , alternate_id |
| 405264542 | CV3189975 | single nucleotide variant | NM_003403.5(YY1):c.904-4T>C | YY1-related disorder [RCV003897019] | likely benign | 14 | 100276486 | 100276486 | Human | | name , trait , alternate_id |
| 597871472 | CV3880686 | single nucleotide variant | NM_003403.5(YY1):c.842+1G>C | Gabriele de Vries syndrome [RCV005215806] | likely pathogenic | 14 | 100262467 | 100262467 | Human | 1 | name |
| 15104717 | CV775965 | single nucleotide variant | NM_003403.5(YY1):c.842+9T>C | not provided [RCV000937440] | likely benign | 14 | 100262475 | 100262475 | Human | | name |
| 152978158 | CV1671456 | single nucleotide variant | NM_003403.5(YY1):c.1062+1G>A | Gabriele de Vries syndrome [RCV002227415] | pathogenic | 14 | 100276649 | 100276649 | Human | 1 | name |
| 8583433 | CV117995 | single nucleotide variant | NM_003403.4(YY1):c.843-1336A>G | Lung cancer [RCV000098515] | uncertain significance | 14 | 100273362 | 100273362 | Human | | name |
| 401929946 | CV2807236 | single nucleotide variant | NM_003403.5(YY1):c.9G>A (p.Ser3=) | YY1-related disorder [RCV003946538]|not provided [RCV003390447] | likely benign | 14 | 100239253 | 100239253 | Human | 1 | name , trait , alternate_id |
| 596947148 | CV3547212 | single nucleotide variant | NM_003403.5(YY1):c.18C>T (p.Thr6=) | not provided [RCV004811020] | likely benign | 14 | 100239262 | 100239262 | Human | | name |
| 598172385 | CV3890828 | single nucleotide variant | NM_003403.5(YY1):c.1A>G (p.Met1Val) | not provided [RCV005251681] | uncertain significance | 14 | 100239245 | 100239245 | Human | | name |
| 15128361 | CV753915 | single nucleotide variant | NM_003403.5(YY1):c.30C>T (p.Ala10=) | not provided [RCV000919640] | likely benign | 14 | 100239274 | 100239274 | Human | | name |
| 156150513 | CV2213079 | single nucleotide variant | NM_003403.5(YY1):c.14A>C (p.Asp5Ala) | Inborn genetic diseases [RCV002697615] | uncertain significance | 14 | 100239258 | 100239258 | Human | 1 | name |
| 401902273 | CV2807237 | single nucleotide variant | NM_003403.5(YY1):c.201C>T (p.His67=) | YY1-related disorder [RCV003946539]|not provided [RCV003393609] | likely benign | 14 | 100239445 | 100239445 | Human | 1 | name , trait , alternate_id |
| 401902274 | CV2807238 | single nucleotide variant | NM_003403.5(YY1):c.225T>C (p.His75=) | not provided [RCV003393610] | likely benign | 14 | 100239469 | 100239469 | Human | | name |
| 596948026 | CV3547618 | single nucleotide variant | NM_003403.5(YY1):c.228C>T (p.His76=) | not provided [RCV004811923] | likely benign | 14 | 100239472 | 100239472 | Human | | name |
| 155714109 | CV1760321 | single nucleotide variant | NM_003403.5(YY1):c.73G>A (p.Glu25Lys) | not provided [RCV002300827] | uncertain significance | 14 | 100239317 | 100239317 | Human | | name |
| 401829251 | CV2747327 | single nucleotide variant | NM_003403.5(YY1):c.31A>T (p.Thr11Ser) | not provided [RCV003328792] | uncertain significance | 14 | 100239275 | 100239275 | Human | | name |
| 405286340 | CV3192788 | single nucleotide variant | NM_003403.5(YY1):c.954C>T (p.His318=) | YY1-related disorder [RCV003981525] | likely benign | 14 | 100276540 | 100276540 | Human | | name , trait , alternate_id |
| 405267190 | CV3220157 | single nucleotide variant | NM_003403.5(YY1):c.600G>A (p.Pro200=) | YY1-related disorder [RCV003969420] | likely benign | 14 | 100239844 | 100239844 | Human | | name , trait , alternate_id |
| 598242532 | CV3930166 | single nucleotide variant | NM_003403.5(YY1):c.570C>T (p.Ala190=) | Inborn genetic diseases [RCV005297129] | likely benign | 14 | 100239814 | 100239814 | Human | 1 | name |
| 15119656 | CV784638 | single nucleotide variant | NM_003403.5(YY1):c.306G>A (p.Glu102=) | not provided [RCV000979154] | likely benign | 14 | 100239550 | 100239550 | Human | | name |
| 126732847 | CV1021174 | single nucleotide variant | NM_003403.5(YY1):c.1032A>G (p.Gln344=) | Gabriele de Vries syndrome [RCV001334140] | uncertain significance | 14 | 100276618 | 100276618 | Human | 1 | name |
| 127286754 | CV1151321 | deletion | NM_003403.5(YY1):c.690del (p.Asp231fs) | Gabriele de Vries syndrome [RCV001507311] | pathogenic | 14 | 100262307 | 100262307 | Human | 1 | name |
| 151352068 | CV1322271 | duplication | NM_003403.5(YY1):c.690dup (p.Asp231fs) | not provided [RCV001806894] | likely pathogenic | 14 | 100262306 | 100262307 | Human | | name |
| 155644303 | CV1708577 | single nucleotide variant | NM_003403.5(YY1):c.1062G>A (p.Gln354=) | Gabriele de Vries syndrome [RCV002291110] | likely pathogenic | 14 | 100276648 | 100276648 | Human | 1 | name |
| 156378112 | CV2207635 | single nucleotide variant | NM_003403.5(YY1):c.244C>T (p.Pro82Ser) | Inborn genetic diseases [RCV002678153] | uncertain significance | 14 | 100239488 | 100239488 | Human | 1 | name |
| 243051619 | CV2403985 | single nucleotide variant | NM_003403.5(YY1):c.293A>G (p.His98Arg) | not provided [RCV003129040] | uncertain significance | 14 | 100239537 | 100239537 | Human | | name |
| 243062110 | CV2414316 | single nucleotide variant | NM_003403.5(YY1):c.166G>A (p.Gly56Ser) | Gabriele de Vries syndrome [RCV003139385] | uncertain significance | 14 | 100239410 | 100239410 | Human | 1 | name |
| 243062111 | CV2414317 | single nucleotide variant | NM_003403.5(YY1):c.188G>A (p.Gly63Asp) | Gabriele de Vries syndrome [RCV003139386] | uncertain significance | 14 | 100239432 | 100239432 | Human | 1 | name |
| 243062113 | CV2414319 | single nucleotide variant | NM_003403.5(YY1):c.194A>G (p.His65Arg) | Gabriele de Vries syndrome [RCV003139388]|Inborn genetic diseases [RCV003239321]|not provided [RCV003395711] | likely benign|uncertain significance | 14 | 100239438 | 100239438 | Human | 2 | name |
| 405265256 | CV3185549 | single nucleotide variant | NM_003403.5(YY1):c.1134C>T (p.Thr378=) | not provided [RCV003886113] | likely benign | 14 | 100277489 | 100277489 | Human | | name |
| 405266843 | CV3186716 | single nucleotide variant | NM_003403.5(YY1):c.1167T>C (p.Gly389=) | not provided [RCV003886797] | likely benign | 14 | 100277522 | 100277522 | Human | | name |
| 405802927 | CV3360069 | single nucleotide variant | NM_003403.5(YY1):c.144C>G (p.Asp48Glu) | Inborn genetic diseases [RCV004478547] | uncertain significance | 14 | 100239388 | 100239388 | Human | 1 | name |
| 405802929 | CV3360070 | single nucleotide variant | NM_003403.5(YY1):c.199C>G (p.His67Asp) | Inborn genetic diseases [RCV004478548] | uncertain significance | 14 | 100239443 | 100239443 | Human | 1 | name |
| 405802931 | CV3360071 | single nucleotide variant | NM_003403.5(YY1):c.209A>C (p.His70Pro) | Inborn genetic diseases [RCV004478549] | uncertain significance | 14 | 100239453 | 100239453 | Human | 1 | name |
| 407427837 | CV3412135 | single nucleotide variant | NM_003403.5(YY1):c.281C>T (p.Pro94Leu) | not provided [RCV004592306] | uncertain significance | 14 | 100239525 | 100239525 | Human | | name |
| 408390746 | CV3520995 | single nucleotide variant | NM_003403.5(YY1):c.233A>G (p.His78Arg) | not provided [RCV004762817] | uncertain significance | 14 | 100239477 | 100239477 | Human | | name |
| 598196171 | CV3930165 | single nucleotide variant | NM_003403.5(YY1):c.118G>C (p.Val40Leu) | Inborn genetic diseases [RCV005313469] | uncertain significance | 14 | 100239362 | 100239362 | Human | 1 | name |
| 616935959 | CV4015894 | single nucleotide variant | NM_003403.5(YY1):c.178G>A (p.Gly60Ser) | not provided [RCV005414758] | uncertain significance | 14 | 100239422 | 100239422 | Human | | name |
| 15193808 | CV725548 | single nucleotide variant | NM_003403.5(YY1):c.141G>C (p.Glu47Asp) | not provided [RCV000889047] | benign | 14 | 100239385 | 100239385 | Human | | name |
| 25318709 | CV805777 | deletion | NM_003403.5(YY1):c.385del (p.Asp129fs) | not provided [RCV001008768] | pathogenic | 14 | 100239628 | 100239628 | Human | | name |
| 38497728 | CV948423 | single nucleotide variant | NM_003403.5(YY1):c.193C>T (p.His65Tyr) | Inborn genetic diseases [RCV003346394]|not provided [RCV001227270] | uncertain significance | 14 | 100239437 | 100239437 | Human | 1 | name |
| 42723669 | CV984601 | single nucleotide variant | NM_003403.5(YY1):c.202G>A (p.Ala68Thr) | Gabriele de Vries syndrome [RCV001291657] | uncertain significance | 14 | 100239446 | 100239446 | Human | 1 | name |
| 126747070 | CV1017767 | single nucleotide variant | NM_003403.5(YY1):c.527G>A (p.Gly176Asp) | Gabriele de Vries syndrome [RCV001331054] | likely pathogenic | 14 | 100239771 | 100239771 | Human | 1 | name |
| 126747062 | CV1017768 | single nucleotide variant | NM_003403.5(YY1):c.562G>A (p.Gly188Ser) | Gabriele de Vries syndrome [RCV001331052] | uncertain significance | 14 | 100239806 | 100239806 | Human | 1 | name |
| 150550482 | CV1300272 | single nucleotide variant | NM_003403.5(YY1):c.742C>T (p.Pro248Ser) | not provided [RCV001765742] | uncertain significance | 14 | 100262366 | 100262366 | Human | | name |
| 151234237 | CV1320200 | single nucleotide variant | NM_003403.5(YY1):c.985G>C (p.Glu329Gln) | not provided [RCV001799823] | likely pathogenic|uncertain significance | 14 | 100276571 | 100276571 | Human | | name |
| 151350314 | CV1324668 | single nucleotide variant | NM_003403.5(YY1):c.514G>T (p.Val172Phe) | Gabriele de Vries syndrome [RCV001809113] | uncertain significance | 14 | 100239758 | 100239758 | Human | 1 | name |
| 151662328 | CV1333032 | single nucleotide variant | NM_003403.5(YY1):c.608A>G (p.Lys203Arg) | Gabriele de Vries syndrome [RCV001837264] | uncertain significance | 14 | 100239852 | 100239852 | Human | 1 | name |
| 152080289 | CV1666932 | single nucleotide variant | NM_003403.5(YY1):c.727A>G (p.Ile243Val) | not provided [RCV002211277] | uncertain significance | 14 | 100262351 | 100262351 | Human | | name |
| 153346819 | CV1694220 | single nucleotide variant | NM_003403.5(YY1):c.976G>A (p.Val326Ile) | Neurodevelopmental disorder [RCV002277636] | uncertain significance | 14 | 100276562 | 100276562 | Human | 1 | name |
| 155643714 | CV1709495 | single nucleotide variant | NM_003403.5(YY1):c.430G>A (p.Asp144Asn) | Gabriele de Vries syndrome [RCV002292371] | uncertain significance | 14 | 100239674 | 100239674 | Human | 1 | name |
| 156280639 | CV2224194 | single nucleotide variant | NM_003403.5(YY1):c.911C>T (p.Thr304Ile) | Inborn genetic diseases [RCV002747076] | uncertain significance | 14 | 100276497 | 100276497 | Human | 1 | name |
| 156340230 | CV2229443 | single nucleotide variant | NM_003403.5(YY1):c.578C>T (p.Ala193Val) | Inborn genetic diseases [RCV002719029] | uncertain significance | 14 | 100239822 | 100239822 | Human | 1 | name |
| 156010374 | CV2291008 | single nucleotide variant | NM_003403.5(YY1):c.541G>T (p.Gly181Cys) | Inborn genetic diseases [RCV002884050] | uncertain significance | 14 | 100239785 | 100239785 | Human | 1 | name |
| 243053992 | CV2416469 | single nucleotide variant | NM_003403.5(YY1):c.674C>T (p.Ser225Phe) | not provided [RCV003149530] | uncertain significance | 14 | 100239918 | 100239918 | Human | | name |
| 401768256 | CV2735239 | single nucleotide variant | NM_003403.5(YY1):c.550A>G (p.Ser184Gly) | Inborn genetic diseases [RCV003302510] | uncertain significance | 14 | 100239794 | 100239794 | Human | 1 | name |
| 401913589 | CV2797572 | single nucleotide variant | NM_003403.5(YY1):c.989G>A (p.Cys330Tyr) | YY1-related disorder [RCV003427890] | uncertain significance | 14 | 100276575 | 100276575 | Human | | name , trait , alternate_id |
| 401911266 | CV2800250 | single nucleotide variant | NM_003403.5(YY1):c.683A>G (p.Glu228Gly) | Inborn genetic diseases [RCV004963622]|YY1-related disorder [RCV003399489] | uncertain significance | 14 | 100262307 | 100262307 | Human | 2 | name , trait , alternate_id |
| 401929948 | CV2807239 | single nucleotide variant | NM_003403.5(YY1):c.572G>C (p.Gly191Ala) | YY1-related disorder [RCV004741601]|not provided [RCV003390448] | benign|likely benign | 14 | 100239816 | 100239816 | Human | 1 | name , trait , alternate_id |
| 401914868 | CV2830868 | single nucleotide variant | NM_003403.5(YY1):c.952C>T (p.His318Tyr) | not provided [RCV003442607] | uncertain significance | 14 | 100276538 | 100276538 | Human | | name |
| 404999537 | CV2851522 | single nucleotide variant | NM_003403.5(YY1):c.487G>A (p.Gly163Ser) | Gabriele de Vries syndrome [RCV003493221] | likely benign | 14 | 100239731 | 100239731 | Human | 1 | name |
| 405691622 | CV3227569 | single nucleotide variant | NM_003403.5(YY1):c.818C>A (p.Pro273His) | Gabriele de Vries syndrome [RCV003991914] | uncertain significance | 14 | 100262442 | 100262442 | Human | 1 | name |
| 405802933 | CV3360072 | single nucleotide variant | NM_003403.5(YY1):c.700C>T (p.His234Tyr) | Inborn genetic diseases [RCV004478550] | uncertain significance | 14 | 100262324 | 100262324 | Human | 1 | name |
| 405854844 | CV3394960 | single nucleotide variant | NM_003403.5(YY1):c.838G>T (p.Ala280Ser) | not provided [RCV004555101] | uncertain significance | 14 | 100262462 | 100262462 | Human | | name |
| 407429327 | CV3413714 | single nucleotide variant | NM_003403.5(YY1):c.980G>A (p.Cys327Tyr) | Gabriele de Vries syndrome [RCV004595123] | pathogenic | 14 | 100276566 | 100276566 | Human | 1 | name |
| 408377165 | CV3501536 | single nucleotide variant | NM_003403.5(YY1):c.943A>G (p.Lys315Glu) | not provided [RCV004727594] | pathogenic | 14 | 100276529 | 100276529 | Human | | name |
| 408389907 | CV3524821 | single nucleotide variant | NM_003403.5(YY1):c.323C>G (p.Thr108Arg) | not provided [RCV004769716] | uncertain significance | 14 | 100239567 | 100239567 | Human | | name |
| 408391108 | CV3527888 | single nucleotide variant | NM_003403.5(YY1):c.488G>C (p.Gly163Ala) | not provided [RCV004775159] | uncertain significance | 14 | 100239732 | 100239732 | Human | | name |
| 597631273 | CV3627425 | single nucleotide variant | NM_003403.5(YY1):c.701A>G (p.His234Arg) | Inborn genetic diseases [RCV004967625] | uncertain significance | 14 | 100262325 | 100262325 | Human | 1 | name |
| 597631564 | CV3627426 | single nucleotide variant | NM_003403.5(YY1):c.469G>A (p.Gly157Ser) | Inborn genetic diseases [RCV004967626] | uncertain significance | 14 | 100239713 | 100239713 | Human | 1 | name |
| 597869871 | CV3771948 | single nucleotide variant | NM_003403.5(YY1):c.509G>A (p.Gly170Asp) | not provided [RCV005122458] | uncertain significance | 14 | 100239753 | 100239753 | Human | | name |
| 597935196 | CV3863648 | single nucleotide variant | NM_003403.5(YY1):c.893G>A (p.Cys298Tyr) | not provided [RCV005207461] | uncertain significance | 14 | 100274748 | 100274748 | Human | | name |
| 598127728 | CV3888302 | single nucleotide variant | NM_003403.5(YY1):c.809T>C (p.Leu270Pro) | not provided [RCV005242988] | uncertain significance | 14 | 100262433 | 100262433 | Human | | name |
| 617149462 | CV4017544 | single nucleotide variant | NM_003403.5(YY1):c.521A>C (p.Lys174Thr) | not provided [RCV005417202] | uncertain significance | 14 | 100239765 | 100239765 | Human | | name |
| 13207657 | CV423704 | single nucleotide variant | NM_003403.5(YY1):c.535A>T (p.Lys179Ter) | Gabriele de Vries syndrome [RCV000494728] | pathogenic | 14 | 100239779 | 100239779 | Human | 1 | name |
| 40886832 | CV973905 | single nucleotide variant | NM_003403.5(YY1):c.956C>T (p.Thr319Ile) | Inborn genetic diseases [RCV001266108] | uncertain significance | 14 | 100276542 | 100276542 | Human | 1 | name |
| 126918268 | CV1048389 | single nucleotide variant | NM_003403.5(YY1):c.1114A>G (p.Thr372Ala) | not provided [RCV001361630] | uncertain significance | 14 | 100277469 | 100277469 | Human | | name |
| 150339307 | CV1174845 | single nucleotide variant | NM_003403.5(YY1):c.1220A>G (p.His407Arg) | not provided [RCV001543436] | likely pathogenic | 14 | 100277575 | 100277575 | Human | | name |
| 150408484 | CV1177737 | single nucleotide variant | NM_003403.5(YY1):c.1111C>T (p.Arg371Cys) | not provided [RCV001545917] | pathogenic | 14 | 100277466 | 100277466 | Human | | name |
| 150534646 | CV1311509 | single nucleotide variant | NM_003403.5(YY1):c.1106A>G (p.Asn369Ser) | Gabriele de Vries syndrome [RCV001779355]|Intellectual disability [RCV002295351]|not provided [RCV004779136] | pathogenic|likely pathogenic|uncertain significance | 14 | 100277461 | 100277461 | Human | 3 | name |
| 151352071 | CV1322273 | single nucleotide variant | NM_003403.5(YY1):c.1124G>A (p.Arg375Gln) | not provided [RCV001806896] | pathogenic|likely pathogenic | 14 | 100277479 | 100277479 | Human | | name |
| 152977966 | CV1671327 | single nucleotide variant | NM_003403.5(YY1):c.1121T>G (p.Val374Gly) | Gabriele de Vries syndrome [RCV002227001] | likely pathogenic | 14 | 100277476 | 100277476 | Human | 1 | name |
| 153346946 | CV1694291 | single nucleotide variant | NM_003403.5(YY1):c.1150G>A (p.Val384Met) | Neurodevelopmental disorder [RCV002277707] | likely pathogenic | 14 | 100277505 | 100277505 | Human | 1 | name |
| 155265157 | CV1695888 | single nucleotide variant | NM_003403.5(YY1):c.1114A>C (p.Thr372Pro) | not provided [RCV002280074] | pathogenic | 14 | 100277469 | 100277469 | Human | | name |
| 155643116 | CV1706546 | single nucleotide variant | NM_003403.5(YY1):c.1036G>T (p.Val346Phe) | Gabriele de Vries syndrome [RCV002287620] | likely pathogenic | 14 | 100276622 | 100276622 | Human | 1 | name |
| 156166809 | CV1866916 | single nucleotide variant | NM_003403.5(YY1):c.1165G>A (p.Gly389Ser) | not provided [RCV002508468] | likely pathogenic|uncertain significance | 14 | 100277520 | 100277520 | Human | | name |
| 156434189 | CV2401850 | single nucleotide variant | NM_003403.5(YY1):c.1057T>C (p.Phe353Leu) | Gabriele de Vries syndrome [RCV003110133] | likely pathogenic | 14 | 100276643 | 100276643 | Human | 1 | name |
| 243051021 | CV2415663 | single nucleotide variant | NM_003403.5(YY1):c.1112G>A (p.Arg371His) | Gabriele de Vries syndrome [RCV003148265] | likely pathogenic | 14 | 100277467 | 100277467 | Human | 1 | name |
| 401855980 | CV2750356 | single nucleotide variant | NM_003403.5(YY1):c.1102T>C (p.Phe368Leu) | Gabriele de Vries syndrome [RCV003333895] | likely pathogenic | 14 | 100277457 | 100277457 | Human | 1 | name |
| 401924216 | CV2795104 | single nucleotide variant | NM_003403.5(YY1):c.1192A>G (p.Thr398Ala) | Gabriele de Vries syndrome [RCV003388878] | likely pathogenic | 14 | 100277547 | 100277547 | Human | 1 | name |
| 401944377 | CV2831632 | single nucleotide variant | NM_003403.5(YY1):c.1025G>A (p.Arg342Gln) | Gabriele de Vries syndrome [RCV003445297] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 14 | 100276611 | 100276611 | Human | 1 | name |
| 407508874 | CV3496412 | single nucleotide variant | NM_003403.5(YY1):c.1117C>T (p.His373Tyr) | not provided [RCV004698253] | likely pathogenic | 14 | 100277472 | 100277472 | Human | | name |
| 408365392 | CV3499865 | single nucleotide variant | NM_003403.5(YY1):c.1123C>T (p.Arg375Ter) | not provided [RCV004721907] | pathogenic | 14 | 100277478 | 100277478 | Human | | name |
| 408380927 | CV3501733 | single nucleotide variant | NM_003403.5(YY1):c.1148A>G (p.Tyr383Cys) | not provided [RCV004729261] | likely pathogenic | 14 | 100277503 | 100277503 | Human | | name |
| 408387788 | CV3520484 | single nucleotide variant | NM_003403.5(YY1):c.1082G>A (p.Gly361Glu) | not provided [RCV004761316] | uncertain significance | 14 | 100277437 | 100277437 | Human | | name |
| 596923456 | CV3530435 | single nucleotide variant | NM_003403.5(YY1):c.1003G>A (p.Val335Ile) | not provided [RCV004777034] | uncertain significance | 14 | 100276589 | 100276589 | Human | | name |
| 598126406 | CV3881900 | single nucleotide variant | NM_003403.5(YY1):c.1133C>G (p.Thr378Ser) | Developmental and epileptic encephalopathy, 78 [RCV005233452] | likely pathogenic | 14 | 100277488 | 100277488 | Human | 1 | name |
| 598123538 | CV3890379 | single nucleotide variant | NM_003403.5(YY1):c.1100A>C (p.Asp367Ala) | not provided [RCV005250898] | uncertain significance | 14 | 100277455 | 100277455 | Human | | name |
| 616936159 | CV4016221 | single nucleotide variant | NM_003403.5(YY1):c.1062G>C (p.Gln354His) | not provided [RCV005415087] | uncertain significance | 14 | 100276648 | 100276648 | Human | | name |
| 13207655 | CV423700 | single nucleotide variant | NM_003403.5(YY1):c.1138G>T (p.Asp380Tyr) | Gabriele de Vries syndrome [RCV000494725] | pathogenic | 14 | 100277493 | 100277493 | Human | 1 | name |
| 13207943 | CV423701 | single nucleotide variant | NM_003403.5(YY1):c.1097T>C (p.Leu366Pro) | Gabriele de Vries syndrome [RCV000494727] | pathogenic | 14 | 100277452 | 100277452 | Human | 1 | name |
| 13207652 | CV423702 | single nucleotide variant | NM_003403.5(YY1):c.1096C>G (p.Leu366Val) | Gabriele de Vries syndrome [RCV000494721] | pathogenic | 14 | 100277451 | 100277451 | Human | 1 | name |
| 13207656 | CV423703 | single nucleotide variant | NM_003403.5(YY1):c.1030C>T (p.Gln344Ter) | Gabriele de Vries syndrome [RCV000494726] | pathogenic | 14 | 100276616 | 100276616 | Human | 1 | name |
| 13531173 | CV512067 | single nucleotide variant | NM_003403.5(YY1):c.1015A>C (p.Lys339Gln) | Inborn genetic diseases [RCV000623107] | likely pathogenic|uncertain significance | 14 | 100276601 | 100276601 | Human | 1 | name |
| 38598866 | CV964858 | single nucleotide variant | NM_003403.5(YY1):c.1118A>G (p.His373Arg) | Gabriele de Vries syndrome [RCV001254142] | likely pathogenic | 14 | 100277473 | 100277473 | Human | 1 | name |
| 8689340 | CV97428 | single nucleotide variant | NM_003403.5(YY1):c.1115C>G (p.Thr372Arg) | not provided [RCV000122507] | uncertain significance | 14 | 100277470 | 100277470 | Human | | name |
| 38462493 | CV919504 | microsatellite | NM_003403.5(YY1):c.207CCA[7] (p.His80dup) | Gabriele de Vries syndrome [RCV001198476]|not provided [RCV003393876] | likely benign|uncertain significance | 14 | 100239450 | 100239451 | Human | | name |
| 401829979 | CV2418248 | deletion | NM_003403.5(YY1):c.458_476del (p.Val153fs) | Gabriele de Vries syndrome [RCV003329126] | pathogenic | 14 | 100239701 | 100239719 | Human | 1 | name |
| 13212238 | CV426048 | deletion | NM_003403.5(YY1):c.860_864del (p.Ile287fs) | not provided [RCV000498533] | pathogenic | 14 | 100274712 | 100274716 | Human | | name |
| 13705234 | CV536447 | microsatellite | NM_003403.5(YY1):c.550_551del (p.Ser184fs) | not provided [RCV000657546] | likely pathogenic | 14 | 100239792 | 100239793 | Human | | name |
| 40888953 | CV973904 | deletion | NM_003403.5(YY1):c.468_483del (p.Gly157fs) | Inborn genetic diseases [RCV001266005]|not provided [RCV001268245] | pathogenic | 14 | 100239704 | 100239719 | Human | 1 | name |
| 405854972 | CV3395289 | duplication | NM_003403.5(YY1):c.1147_1151dup (p.Cys385fs) | Gabriele de Vries syndrome [RCV004555426] | pathogenic | 14 | 100277501 | 100277502 | Human | 1 | name |
| 40887267 | CV973906 | deletion | NM_003403.5(YY1):c.1159_1161del (p.Phe387del) | Inborn genetic diseases [RCV001266764] | uncertain significance | 14 | 100277513 | 100277515 | Human | 1 | name |
| 153349589 | CV1693636 | microsatellite | NM_003403.5(YY1):c.144CGA[2] (p.Asp50_Asp51del) | not provided [RCV002276005] | uncertain significance | 14 | 100239386 | 100239391 | Human | | name |
| 155998419 | CV2373288 | microsatellite | NM_003403.5(YY1):c.207CCA[4] (p.His79_His80del) | Inborn genetic diseases [RCV002689832] | likely benign | 14 | 100239451 | 100239456 | Human | | name |
| 243062112 | CV2414318 | deletion | NM_003403.5(YY1):c.168_185del (p.Asp58_Gly63del) | Gabriele de Vries syndrome [RCV003139387]|not provided [RCV003389925] | likely benign|uncertain significance | 14 | 100239402 | 100239419 | Human | 1 | name |
| 401828683 | CV2743018 | deletion | NM_003403.5(YY1):c.167_172del (p.Gly56_Gly57del) | not provided [RCV003325726] | uncertain significance | 14 | 100239407 | 100239412 | Human | | name |
| 401919178 | CV2794786 | deletion | NM_003403.5(YY1):c.221_241del (p.His74_His80del) | not specified [RCV003388461] | uncertain significance | 14 | 100239451 | 100239471 | Human | | name |
| 408389794 | CV3519047 | deletion | NM_003403.5(YY1):c.288_299del (p.Gln96_His99del) | not provided [RCV004762356] | uncertain significance | 14 | 100239529 | 100239540 | Human | | name |
| 408369682 | CV3502837 | deletion | NM_003403.5(YY1):c.635_640del (p.Ile212_Lys213del) | not provided [RCV004723958] | uncertain significance | 14 | 100239876 | 100239881 | Human | | name |
| 598126829 | CV3882287 | deletion | NM_003403.5(YY1):c.685_690del (p.Lys229_Lys230del) | not provided [RCV005233838] | uncertain significance | 14 | 100262307 | 100262312 | Human | | name |
| 617150915 | CV4019292 | deletion | NM_003403.5(YY1):c.575_589del (p.Ala192_Gly196del) | not provided [RCV005423700] | uncertain significance | 14 | 100239814 | 100239828 | Human | | name |
| 405289523 | CV3218326 | microsatellite | NM_003403.5(YY1):c.581GCG[5] (p.Gly197_Ala198insGly) | YY1-related disorder [RCV003983728] | uncertain significance | 14 | 100239823 | 100239824 | Human | | name , trait , alternate_id |
| 598190125 | CV4008792 | microsatellite | NM_003403.5(YY1):c.478GGC[5] (p.Gly163_Ser164insGly) | Gabriele de Vries syndrome [RCV005396291] | uncertain significance | 14 | 100239719 | 100239720 | Human | | name |
| 155952138 | CV1936129 | deletion | NM_003403.5(YY1):c.176_181del (p.His59_Gly61delinsArg) | not provided [RCV002511784] | likely benign | 14 | 100239420 | 100239425 | Human | | name |
| 150547116 | CV1314058 | insertion | NM_003403.5(YY1):c.1040_1041insCGACGGACAACGGCTAGTTTATTTTTACTTGCAGCTTCAAAACCGCCACCTTCCATTGCTTGTCCAGTGATACGGAGACCTTCCTCGGCAGCAAAACGAATCAATTCTGCTGTACG (p.His347_Thr348insAspGlyGlnArgLeuValTyrPheTyrLeuGlnLeuGlnAsnArgHisLeuProLeuLeuValGlnTer) | Gabriele de Vries syndrome [RCV001785151] | pathogenic | 14 | 100276626 | 100276627 | Human | | name |
| 155721504 | CV1781316 | single nucleotide variant | NM_139119.3(YY1AP1):c.-27C>T | not provided [RCV002306392] | likely pathogenic | 1 | 155688077 | 155688077 | Human | | name |
| 156258775 | CV2366157 | single nucleotide variant | NM_139119.3(YY1AP1):c.-90C>T | Inborn genetic diseases [RCV003008804] | uncertain significance | 1 | 155688140 | 155688140 | Human | 1 | name |
| 407456611 | CV3493898 | single nucleotide variant | NM_139119.3(YY1AP1):c.-59C>T | Inborn genetic diseases [RCV004686018] | uncertain significance | 1 | 155688109 | 155688109 | Human | 1 | name |
| 597631313 | CV3627444 | single nucleotide variant | NM_139119.3(YY1AP1):c.-35T>G | Inborn genetic diseases [RCV004967642] | uncertain significance | 1 | 155688085 | 155688085 | Human | 1 | name |
| 598242555 | CV3930178 | single nucleotide variant | NM_139119.3(YY1AP1):c.-11C>G | Inborn genetic diseases [RCV005297134] | uncertain significance | 1 | 155680447 | 155680447 | Human | 1 | name |
| 15194967 | CV696145 | single nucleotide variant | NM_139119.3(YY1AP1):c.-49T>C | not provided [RCV000955790] | benign | 1 | 155688099 | 155688099 | Human | | name |
| 15184866 | CV696146 | single nucleotide variant | NM_139119.3(YY1AP1):c.-95G>A | not provided [RCV000952813] | benign | 1 | 155688145 | 155688145 | Human | | name |
| 15128883 | CV706721 | single nucleotide variant | NM_139119.3(YY1AP1):c.-60T>C | not provided [RCV000964162] | benign|likely benign | 1 | 155688110 | 155688110 | Human | | name |
| 15110156 | CV718272 | single nucleotide variant | NM_139119.3(YY1AP1):c.-30C>T | not provided [RCV000894004] | benign | 1 | 155688080 | 155688080 | Human | | name |
| 155963362 | CV2330319 | single nucleotide variant | NM_139119.3(YY1AP1):c.-141C>T | Inborn genetic diseases [RCV002945119] | uncertain significance | 1 | 155688191 | 155688191 | Human | 1 | name |
| 405289687 | CV3213148 | single nucleotide variant | NM_139119.3(YY1AP1):c.-145T>A | YY1AP1-related disorder [RCV003961919] | likely benign | 1 | 155688195 | 155688195 | Human | | name , trait , alternate_id |
| 405725787 | CV3235107 | single nucleotide variant | NM_139121.3(YY1AP1):c.-420T>A | not specified [RCV004018138] | benign | 1 | 155688975 | 155688975 | Human | | name |
| 405708816 | CV3225495 | single nucleotide variant | NM_139119.3(YY1AP1):c.-21+1G>T | Grange syndrome [RCV003990551] | likely pathogenic | 1 | 155688070 | 155688070 | Human | 1 | name |
| 13827743 | CV514308 | single nucleotide variant | NM_139119.3(YY1AP1):c.412-1G>A | Grange syndrome [RCV000714980] | pathogenic | 1 | 155672732 | 155672732 | Human | 1 | name |
| 15102185 | CV729924 | single nucleotide variant | NM_139119.3(YY1AP1):c.324+7C>T | not provided [RCV000892430] | likely benign | 1 | 155676541 | 155676541 | Human | | name |
| 13827723 | CV514309 | single nucleotide variant | NM_139119.3(YY1AP1):c.583+23T>G | Grange syndrome [RCV000714955] | pathogenic | 1 | 155672537 | 155672537 | Human | 1 | name |
| 156350201 | CV2122083 | single nucleotide variant | NM_139119.3(YY1AP1):c.-151-43T>A | not provided [RCV002966241] | pathogenic | 1 | 155688244 | 155688244 | Human | | name |
| 156116242 | CV2349363 | single nucleotide variant | NM_139119.3(YY1AP1):c.-151-58C>T | Inborn genetic diseases [RCV002980931] | uncertain significance | 1 | 155688259 | 155688259 | Human | 1 | name |
| 401763661 | CV2704056 | single nucleotide variant | NM_139119.3(YY1AP1):c.-151-61C>T | Inborn genetic diseases [RCV003281599] | uncertain significance | 1 | 155688262 | 155688262 | Human | 1 | name |
| 401782561 | CV2719878 | single nucleotide variant | NM_139119.3(YY1AP1):c.-151-20C>T | Inborn genetic diseases [RCV003309060] | uncertain significance | 1 | 155688221 | 155688221 | Human | 1 | name |
| 405802944 | CV3360077 | single nucleotide variant | NM_139119.3(YY1AP1):c.-151-91C>A | Inborn genetic diseases [RCV004478555] | uncertain significance | 1 | 155688292 | 155688292 | Human | 1 | name |
| 405802948 | CV3360079 | single nucleotide variant | NM_139119.3(YY1AP1):c.-151-89A>G | Inborn genetic diseases [RCV004478557] | uncertain significance | 1 | 155688290 | 155688290 | Human | 1 | name |
| 405802963 | CV3360086 | single nucleotide variant | NM_139119.3(YY1AP1):c.-151-38C>T | Inborn genetic diseases [RCV004478564] | uncertain significance | 1 | 155688239 | 155688239 | Human | 1 | name |
| 405802965 | CV3360087 | single nucleotide variant | NM_139119.3(YY1AP1):c.-151-34A>G | Inborn genetic diseases [RCV004478565] | likely benign | 1 | 155688235 | 155688235 | Human | 1 | name |
| 598242540 | CV3930170 | single nucleotide variant | NM_139119.3(YY1AP1):c.-151-77G>A | Inborn genetic diseases [RCV005297131] | uncertain significance | 1 | 155688278 | 155688278 | Human | 1 | name |
| 15180475 | CV706722 | single nucleotide variant | NM_139119.3(YY1AP1):c.-151-68T>C | Inborn genetic diseases [RCV003353099]|YY1AP1-related disorder [RCV003897967]|not provided [RCV000974162] | benign|likely benign | 1 | 155688269 | 155688269 | Human | 2 | name , trait , alternate_id |
| 15137147 | CV706723 | single nucleotide variant | NM_139119.3(YY1AP1):c.-151-84A>G | not provided [RCV000965567] | likely benign | 1 | 155688285 | 155688285 | Human | | name |
| 15107934 | CV718273 | single nucleotide variant | NM_139119.3(YY1AP1):c.-151-23C>T | Inborn genetic diseases [RCV004962914]|YY1AP1-related disorder [RCV003957998]|not provided [RCV000893576] | likely benign|uncertain significance | 1 | 155688224 | 155688224 | Human | 2 | name , trait , alternate_id |
| 127273379 | CV1058423 | duplication | NM_139119.3(YY1AP1):c.-151-100dup | not provided [RCV001390772] | pathogenic | 1 | 155688300 | 155688301 | Human | | name |
| 155966027 | CV2206663 | single nucleotide variant | NM_139119.3(YY1AP1):c.-151-122C>T | Inborn genetic diseases [RCV002687072] | uncertain significance | 1 | 155688323 | 155688323 | Human | 1 | name |
| 156274291 | CV2293789 | single nucleotide variant | NM_139119.3(YY1AP1):c.-151-185G>A | Inborn genetic diseases [RCV002896105]|not provided [RCV004691525] | uncertain significance | 1 | 155688386 | 155688386 | Human | 1 | name |
| 155932576 | CV2400051 | single nucleotide variant | NM_139119.3(YY1AP1):c.-152+213A>G | Inborn genetic diseases [RCV002774519] | uncertain significance | 1 | 155688446 | 155688446 | Human | 1 | name |
| 329384995 | CV2454554 | single nucleotide variant | NM_139119.3(YY1AP1):c.-151-206G>A | Inborn genetic diseases [RCV003214276] | uncertain significance | 1 | 155688407 | 155688407 | Human | 1 | name |
| 405267551 | CV3219390 | single nucleotide variant | NM_139119.3(YY1AP1):c.-151-186A>G | YY1AP1-related disorder [RCV003969632] | likely benign | 1 | 155688387 | 155688387 | Human | | name , trait , alternate_id |
| 405802936 | CV3360073 | single nucleotide variant | NM_139119.3(YY1AP1):c.-151-161G>C | Inborn genetic diseases [RCV004478551] | uncertain significance | 1 | 155688362 | 155688362 | Human | 1 | name |
| 596925522 | CV3542111 | single nucleotide variant | NM_139119.3(YY1AP1):c.-151-158G>T | Grange syndrome [RCV004795827] | likely pathogenic | 1 | 155688359 | 155688359 | Human | 1 | name |
| 597631286 | CV3627432 | single nucleotide variant | NM_139119.3(YY1AP1):c.-151-146C>T | Inborn genetic diseases [RCV004967631] | uncertain significance | 1 | 155688347 | 155688347 | Human | 1 | name |
| 597631292 | CV3627435 | single nucleotide variant | NM_139119.3(YY1AP1):c.-151-152C>T | Inborn genetic diseases [RCV004967634] | uncertain significance | 1 | 155688353 | 155688353 | Human | 1 | name |
| 597631308 | CV3627442 | single nucleotide variant | NM_139119.3(YY1AP1):c.-151-100G>C | Inborn genetic diseases [RCV004967640] | uncertain significance | 1 | 155688301 | 155688301 | Human | 1 | name |
| 15108070 | CV745726 | single nucleotide variant | NM_139119.3(YY1AP1):c.-151-126C>T | not provided [RCV000916074] | likely benign | 1 | 155688327 | 155688327 | Human | | name |
| 126731970 | CV1019194 | microsatellite | NM_139119.3(YY1AP1):c.-151-20_-151-18del | Grange syndrome [RCV001333874] | uncertain significance | 1 | 155688219 | 155688221 | Human | | name |
| 15196711 | CV745725 | microsatellite | NM_139119.3(YY1AP1):c.-151-128_-151-120del | YY1AP1-related disorder [RCV003932990]|not provided [RCV000911773] | benign | 1 | 155688321 | 155688329 | Human | | name , trait , alternate_id |
| 405261257 | CV3221457 | single nucleotide variant | NM_139119.3(YY1AP1):c.2073A>G (p.Gly691=) | YY1AP1-related disorder [RCV003966935] | likely benign | 1 | 155659837 | 155659837 | Human | | name , trait , alternate_id |
| 408378399 | CV3512427 | single nucleotide variant | NM_139119.3(YY1AP1):c.1453G>A (p.Ala485Thr) | YY1AP1-related disorder [RCV004752241] | likely benign | 1 | 155660457 | 155660457 | Human | | name , trait , alternate_id |
| 12791948 | CV362483 | single nucleotide variant | NM_139119.3(YY1AP1):c.250C>T (p.Gln84Ter) | Grange syndrome [RCV000417120]|YY1AP1-related disorder [RCV003409584] | pathogenic|likely pathogenic | 1 | 155676622 | 155676622 | Human | 1 | name , trait , alternate_id |
| 15187639 | CV696144 | single nucleotide variant | NM_139119.3(YY1AP1):c.1149A>G (p.Leu383=) | YY1AP1-related disorder [RCV003978254]|not provided [RCV000953649] | likely benign | 1 | 155660761 | 155660761 | Human | 1 | name , trait , alternate_id |
| 15155804 | CV718268 | single nucleotide variant | NM_139119.3(YY1AP1):c.1773C>T (p.Ala591=) | YY1AP1-related disorder [RCV003910372]|not provided [RCV000880492] | likely benign | 1 | 155660137 | 155660137 | Human | 1 | name , trait , alternate_id |
| 15166029 | CV718270 | single nucleotide variant | NM_139119.3(YY1AP1):c.1202A>G (p.Lys401Arg) | Inborn genetic diseases [RCV002539310]|YY1AP1-related disorder [RCV003955850]|not provided [RCV000882542] | likely benign | 1 | 155660708 | 155660708 | Human | 2 | name , trait , alternate_id |
| 15107769 | CV718271 | single nucleotide variant | NM_139119.3(YY1AP1):c.975C>T (p.His325=) | YY1AP1-related disorder [RCV003968156]|not provided [RCV000893546] | likely benign | 1 | 155661328 | 155661328 | Human | 1 | name , trait , alternate_id |
| 15145526 | CV731762 | single nucleotide variant | NM_139119.3(YY1AP1):c.2250T>C (p.Leu750=) | YY1AP1-related disorder [RCV004751796]|not provided [RCV000900175] | benign|likely benign | 1 | 155659660 | 155659660 | Human | 1 | name , trait , alternate_id |
| 152977915 | CV1671274 | deletion | NM_139119.3(YY1AP1):c.207del (p.Lys69fs) | Grange syndrome [RCV002226948] | likely pathogenic | 1 | 155676665 | 155676665 | Human | 1 | name |
| 156056925 | CV2320654 | single nucleotide variant | NM_139119.3(YY1AP1):c.38G>T (p.Gly13Val) | Inborn genetic diseases [RCV002924803] | uncertain significance | 1 | 155679496 | 155679496 | Human | 1 | name |
| 401763371 | CV2703789 | single nucleotide variant | NM_139119.3(YY1AP1):c.47A>G (p.Asn16Ser) | Inborn genetic diseases [RCV003281505] | uncertain significance | 1 | 155679487 | 155679487 | Human | 1 | name |
| 405205352 | CV2916214 | single nucleotide variant | NM_139119.3(YY1AP1):c.384G>A (p.Pro128=) | not provided [RCV003566429] | likely benign | 1 | 155675037 | 155675037 | Human | | name |
| 405802970 | CV3360089 | single nucleotide variant | NM_139119.3(YY1AP1):c.58G>C (p.Asp20His) | Inborn genetic diseases [RCV004478567] | uncertain significance | 1 | 155679476 | 155679476 | Human | 1 | name |
| 598196175 | CV3930168 | single nucleotide variant | NM_139119.3(YY1AP1):c.79C>T (p.Arg27Cys) | Inborn genetic diseases [RCV005313470] | uncertain significance | 1 | 155679455 | 155679455 | Human | 1 | name |
| 15136896 | CV745724 | single nucleotide variant | NM_139119.3(YY1AP1):c.702G>A (p.Lys234=) | not provided [RCV000921082] | likely benign | 1 | 155670346 | 155670346 | Human | | name |
| 127261799 | CV1087296 | deletion | NM_139119.3(YY1AP1):c.743del (p.Gly248fs) | Grange syndrome [RCV001420675] | likely pathogenic | 1 | 155668763 | 155668763 | Human | 1 | name |
| 156062243 | CV2323232 | single nucleotide variant | NM_139119.3(YY1AP1):c.260A>C (p.Glu87Ala) | Inborn genetic diseases [RCV002950753] | uncertain significance | 1 | 155676612 | 155676612 | Human | 1 | name |
| 156132068 | CV2365691 | single nucleotide variant | NM_139119.3(YY1AP1):c.225G>C (p.Gln75His) | Inborn genetic diseases [RCV002981911] | uncertain significance | 1 | 155676647 | 155676647 | Human | 1 | name |
| 401719952 | CV2675732 | single nucleotide variant | NM_139119.3(YY1AP1):c.173C>T (p.Ala58Val) | Inborn genetic diseases [RCV003243870] | likely benign | 1 | 155676699 | 155676699 | Human | 1 | name |
| 401942849 | CV2839880 | single nucleotide variant | NM_139119.3(YY1AP1):c.1755C>T (p.Pro585=) | not provided [RCV003456667] | likely benign | 1 | 155660155 | 155660155 | Human | | name |
| 597631300 | CV3627439 | single nucleotide variant | NM_139119.3(YY1AP1):c.293A>C (p.Gln98Pro) | Inborn genetic diseases [RCV004967637] | uncertain significance | 1 | 155676579 | 155676579 | Human | 1 | name |
| 598196184 | CV3930172 | single nucleotide variant | NM_139119.3(YY1AP1):c.102C>A (p.Asn34Lys) | Inborn genetic diseases [RCV005313472] | uncertain significance | 1 | 155679432 | 155679432 | Human | 1 | name |
| 15172265 | CV706720 | single nucleotide variant | NM_139119.3(YY1AP1):c.1158G>A (p.Lys386=) | not provided [RCV000972367] | benign | 1 | 155660752 | 155660752 | Human | | name |
| 15103088 | CV718269 | single nucleotide variant | NM_139119.3(YY1AP1):c.1737G>A (p.Ala579=) | not provided [RCV000892605] | benign | 1 | 155660173 | 155660173 | Human | | name |
| 15143238 | CV731763 | single nucleotide variant | NM_139119.3(YY1AP1):c.1461C>T (p.Pro487=) | not provided [RCV000899805] | likely benign | 1 | 155660449 | 155660449 | Human | | name |
| 15120518 | CV745723 | single nucleotide variant | NM_139119.3(YY1AP1):c.1269C>T (p.Leu423=) | not provided [RCV000918335] | likely benign | 1 | 155660641 | 155660641 | Human | | name |
| 126731965 | CV1019192 | duplication | NM_139119.3(YY1AP1):c.1951dup (p.Ala651fs) | Grange syndrome [RCV001333873] | pathogenic | 1 | 155659958 | 155659959 | Human | | name |
| 150534280 | CV1299130 | single nucleotide variant | NM_139119.3(YY1AP1):c.567A>T (p.Lys189Asn) | not provided [RCV001756823] | uncertain significance | 1 | 155672576 | 155672576 | Human | | name |
| 150536756 | CV1302914 | single nucleotide variant | NM_139119.3(YY1AP1):c.403A>G (p.Ile135Val) | not provided [RCV001763659] | uncertain significance | 1 | 155675018 | 155675018 | Human | | name |
| 155926508 | CV2208210 | single nucleotide variant | NM_139119.3(YY1AP1):c.976C>T (p.Arg326Trp) | Inborn genetic diseases [RCV002683577] | uncertain significance | 1 | 155661327 | 155661327 | Human | 1 | name |
| 156237799 | CV2224238 | single nucleotide variant | NM_139119.3(YY1AP1):c.872T>C (p.Ile291Thr) | Inborn genetic diseases [RCV002713180] | uncertain significance | 1 | 155668634 | 155668634 | Human | 1 | name |
| 155902105 | CV2237946 | single nucleotide variant | NM_139119.3(YY1AP1):c.986T>C (p.Phe329Ser) | Inborn genetic diseases [RCV002748873] | uncertain significance | 1 | 155661317 | 155661317 | Human | 1 | name |
| 156143782 | CV2296386 | single nucleotide variant | NM_139119.3(YY1AP1):c.575A>G (p.Lys192Arg) | Inborn genetic diseases [RCV002850465] | uncertain significance | 1 | 155672568 | 155672568 | Human | 1 | name |
| 329398204 | CV2464862 | single nucleotide variant | NM_139119.3(YY1AP1):c.596C>A (p.Pro199His) | Inborn genetic diseases [RCV003220365] | uncertain significance | 1 | 155670452 | 155670452 | Human | 1 | name |
| 329349993 | CV2477209 | deletion | NM_139119.3(YY1AP1):c.1303del (p.Gln435fs) | not provided [RCV003221534] | uncertain significance | 1 | 155660607 | 155660607 | Human | | name |
| 401776533 | CV2689173 | single nucleotide variant | NM_139119.3(YY1AP1):c.893C>A (p.Thr298Asn) | Inborn genetic diseases [RCV003286462] | uncertain significance | 1 | 155661410 | 155661410 | Human | 1 | name |
| 401749259 | CV2710161 | single nucleotide variant | NM_139119.3(YY1AP1):c.773T>G (p.Leu258Arg) | Inborn genetic diseases [RCV003242695] | uncertain significance | 1 | 155668733 | 155668733 | Human | 1 | name |
| 401875263 | CV2765968 | single nucleotide variant | NM_139119.3(YY1AP1):c.729T>G (p.Asn243Lys) | Inborn genetic diseases [RCV003347646] | uncertain significance | 1 | 155668777 | 155668777 | Human | 1 | name |
| 401866363 | CV2775519 | single nucleotide variant | NM_139119.3(YY1AP1):c.822A>C (p.Gln274His) | Inborn genetic diseases [RCV003359974] | uncertain significance | 1 | 155668684 | 155668684 | Human | 1 | name |
| 401887985 | CV2781815 | single nucleotide variant | NM_139119.3(YY1AP1):c.433C>G (p.Gln145Glu) | Inborn genetic diseases [RCV003367427] | uncertain significance | 1 | 155672710 | 155672710 | Human | 1 | name |
| 401881149 | CV2789534 | single nucleotide variant | NM_139119.3(YY1AP1):c.442A>G (p.Ile148Val) | Inborn genetic diseases [RCV003385276] | uncertain significance | 1 | 155672701 | 155672701 | Human | 1 | name |
| 405802938 | CV3360074 | single nucleotide variant | NM_139119.3(YY1AP1):c.818G>A (p.Arg273His) | Inborn genetic diseases [RCV004478552] | likely benign | 1 | 155668688 | 155668688 | Human | 1 | name |
| 405802972 | CV3360090 | single nucleotide variant | NM_139119.3(YY1AP1):c.310C>G (p.Gln104Glu) | Inborn genetic diseases [RCV004478568] | uncertain significance | 1 | 155676562 | 155676562 | Human | 1 | name |
| 405802974 | CV3360091 | single nucleotide variant | NM_139119.3(YY1AP1):c.457C>G (p.Gln153Glu) | Inborn genetic diseases [RCV004478569] | uncertain significance | 1 | 155672686 | 155672686 | Human | 1 | name |
| 405854850 | CV3394966 | single nucleotide variant | NM_139119.3(YY1AP1):c.405A>G (p.Ile135Met) | Inborn genetic diseases [RCV004968587]|not provided [RCV004555107] | uncertain significance | 1 | 155675016 | 155675016 | Human | 1 | name |
| 407429326 | CV3413713 | single nucleotide variant | NM_139119.3(YY1AP1):c.923G>C (p.Cys308Ser) | Grange syndrome [RCV004595122] | uncertain significance | 1 | 155661380 | 155661380 | Human | 1 | name |
| 407456541 | CV3493896 | single nucleotide variant | NM_139119.3(YY1AP1):c.977G>A (p.Arg326Gln) | Inborn genetic diseases [RCV004686016] | uncertain significance | 1 | 155661326 | 155661326 | Human | 1 | name |
| 407456613 | CV3493899 | single nucleotide variant | NM_139119.3(YY1AP1):c.374A>G (p.Asn125Ser) | Inborn genetic diseases [RCV004686019] | likely benign | 1 | 155675047 | 155675047 | Human | 1 | name |
| 407456615 | CV3493900 | single nucleotide variant | NM_139119.3(YY1AP1):c.667G>T (p.Val223Leu) | Inborn genetic diseases [RCV004686020] | uncertain significance | 1 | 155670381 | 155670381 | Human | 1 | name |
| 596925512 | CV3530498 | deletion | NM_139119.3(YY1AP1):c.1877del (p.Pro626fs) | not provided [RCV004778083] | likely pathogenic | 1 | 155660033 | 155660033 | Human | | name |
| 12791661 | CV362479 | single nucleotide variant | NM_139119.3(YY1AP1):c.310C>T (p.Gln104Ter) | Grange syndrome [RCV000417115] | pathogenic | 1 | 155676562 | 155676562 | Human | 1 | name |
| 597631282 | CV3627430 | single nucleotide variant | NM_139119.3(YY1AP1):c.965G>A (p.Arg322Lys) | Inborn genetic diseases [RCV004967629] | uncertain significance | 1 | 155661338 | 155661338 | Human | 1 | name |
| 597631291 | CV3627434 | single nucleotide variant | NM_139119.3(YY1AP1):c.616G>T (p.Ala206Ser) | Inborn genetic diseases [RCV004967633] | uncertain significance | 1 | 155670432 | 155670432 | Human | 1 | name |
| 597631303 | CV3627440 | single nucleotide variant | NM_139119.3(YY1AP1):c.700A>G (p.Lys234Glu) | Inborn genetic diseases [RCV004967638] | uncertain significance | 1 | 155670348 | 155670348 | Human | 1 | name |
| 597631304 | CV3627441 | single nucleotide variant | NM_139119.3(YY1AP1):c.428T>C (p.Phe143Ser) | Inborn genetic diseases [RCV004967639] | uncertain significance | 1 | 155672715 | 155672715 | Human | 1 | name |
| 597631310 | CV3627443 | single nucleotide variant | NM_139119.3(YY1AP1):c.553T>C (p.Cys185Arg) | Inborn genetic diseases [RCV004967641] | uncertain significance | 1 | 155672590 | 155672590 | Human | 1 | name |
| 598242536 | CV3930167 | single nucleotide variant | NM_139119.3(YY1AP1):c.965G>C (p.Arg322Thr) | Inborn genetic diseases [RCV005297130] | uncertain significance | 1 | 155661338 | 155661338 | Human | 1 | name |
| 126731962 | CV1019193 | single nucleotide variant | NM_139119.3(YY1AP1):c.1192C>T (p.Arg398Cys) | Grange syndrome [RCV001333872] | uncertain significance | 1 | 155660718 | 155660718 | Human | 1 | name |
| 156134284 | CV2235522 | single nucleotide variant | NM_139119.3(YY1AP1):c.1460C>G (p.Pro487Arg) | Inborn genetic diseases [RCV002763131] | uncertain significance | 1 | 155660450 | 155660450 | Human | 1 | name |
| 156024510 | CV2273875 | single nucleotide variant | NM_139119.3(YY1AP1):c.1426A>C (p.Ser476Arg) | Inborn genetic diseases [RCV002844894] | uncertain significance | 1 | 155660484 | 155660484 | Human | 1 | name |
| 155988489 | CV2285399 | single nucleotide variant | NM_139119.3(YY1AP1):c.2095C>T (p.Arg699Cys) | Inborn genetic diseases [RCV002864287] | uncertain significance | 1 | 155659815 | 155659815 | Human | 1 | name |
| 155932462 | CV2290670 | single nucleotide variant | NM_139119.3(YY1AP1):c.1939G>A (p.Asp647Asn) | Inborn genetic diseases [RCV002861176] | likely benign | 1 | 155659971 | 155659971 | Human | 1 | name |
| 156288645 | CV2327427 | single nucleotide variant | NM_139119.3(YY1AP1):c.1136G>A (p.Arg379Gln) | Inborn genetic diseases [RCV002935434] | uncertain significance | 1 | 155660774 | 155660774 | Human | 1 | name |
| 156051416 | CV2391243 | single nucleotide variant | NM_139119.3(YY1AP1):c.1909A>G (p.Met637Val) | Inborn genetic diseases [RCV002759371] | likely benign | 1 | 155660001 | 155660001 | Human | 1 | name |
| 155998144 | CV2393391 | single nucleotide variant | NM_139119.3(YY1AP1):c.2179T>A (p.Ser727Thr) | Inborn genetic diseases [RCV002733915] | uncertain significance | 1 | 155659731 | 155659731 | Human | 1 | name |
| 243050779 | CV2415578 | single nucleotide variant | NM_139119.3(YY1AP1):c.1484C>T (p.Pro495Leu) | Grange syndrome [RCV003148178] | uncertain significance | 1 | 155660426 | 155660426 | Human | 1 | name |
| 329356176 | CV2442492 | single nucleotide variant | NM_139119.3(YY1AP1):c.1823T>C (p.Leu608Pro) | Inborn genetic diseases [RCV003203146] | uncertain significance | 1 | 155660087 | 155660087 | Human | 1 | name |
| 329399782 | CV2444179 | single nucleotide variant | NM_139119.3(YY1AP1):c.2087G>A (p.Ser696Asn) | Inborn genetic diseases [RCV003196843] | uncertain significance | 1 | 155659823 | 155659823 | Human | 1 | name |
| 401741316 | CV2680379 | single nucleotide variant | NM_139119.3(YY1AP1):c.2053G>A (p.Asp685Asn) | Inborn genetic diseases [RCV003251428] | uncertain significance | 1 | 155659857 | 155659857 | Human | 1 | name |
| 401762020 | CV2699492 | single nucleotide variant | NM_139119.3(YY1AP1):c.2101A>G (p.Thr701Ala) | Inborn genetic diseases [RCV003281054] | uncertain significance | 1 | 155659809 | 155659809 | Human | 1 | name |
| 401774149 | CV2702612 | single nucleotide variant | NM_139119.3(YY1AP1):c.1643T>C (p.Ile548Thr) | Inborn genetic diseases [RCV003262448] | uncertain significance | 1 | 155660267 | 155660267 | Human | 1 | name |
| 401783799 | CV2720444 | single nucleotide variant | NM_139119.3(YY1AP1):c.2095C>A (p.Arg699Ser) | Inborn genetic diseases [RCV003309946] | uncertain significance | 1 | 155659815 | 155659815 | Human | 1 | name |
| 401723433 | CV2724899 | single nucleotide variant | NM_139119.3(YY1AP1):c.1949A>G (p.Asn650Ser) | Inborn genetic diseases [RCV003268326] | uncertain significance | 1 | 155659961 | 155659961 | Human | 1 | name |
| 401865340 | CV2778708 | single nucleotide variant | NM_139119.3(YY1AP1):c.1762A>G (p.Ile588Val) | Inborn genetic diseases [RCV003359660] | uncertain significance | 1 | 155660148 | 155660148 | Human | 1 | name |
| 401891509 | CV2780489 | single nucleotide variant | NM_139119.3(YY1AP1):c.1061A>G (p.Asn354Ser) | Inborn genetic diseases [RCV003369479] | uncertain significance | 1 | 155660849 | 155660849 | Human | 1 | name |
| 405802940 | CV3360075 | single nucleotide variant | NM_139119.3(YY1AP1):c.1028G>A (p.Arg343Gln) | Inborn genetic diseases [RCV004478553] | likely benign | 1 | 155660882 | 155660882 | Human | 1 | name |
| 405802942 | CV3360076 | single nucleotide variant | NM_139119.3(YY1AP1):c.1135C>T (p.Arg379Trp) | Inborn genetic diseases [RCV004478554] | uncertain significance | 1 | 155660775 | 155660775 | Human | 1 | name |
| 405802946 | CV3360078 | single nucleotide variant | NM_139119.3(YY1AP1):c.1339G>A (p.Val447Met) | Inborn genetic diseases [RCV004478556] | uncertain significance | 1 | 155660571 | 155660571 | Human | 1 | name |
| 405802950 | CV3360080 | single nucleotide variant | NM_139119.3(YY1AP1):c.1349T>C (p.Ile450Thr) | Inborn genetic diseases [RCV004478558] | uncertain significance | 1 | 155660561 | 155660561 | Human | 1 | name |
| 405802952 | CV3360081 | single nucleotide variant | NM_139119.3(YY1AP1):c.1417G>A (p.Gly473Arg) | Inborn genetic diseases [RCV004478559] | uncertain significance | 1 | 155660493 | 155660493 | Human | 1 | name |
| 405802955 | CV3360082 | single nucleotide variant | NM_139119.3(YY1AP1):c.1528A>G (p.Lys510Glu) | Inborn genetic diseases [RCV004478560] | uncertain significance | 1 | 155660382 | 155660382 | Human | 1 | name |
| 405802957 | CV3360083 | single nucleotide variant | NM_139119.3(YY1AP1):c.1582C>T (p.Arg528Trp) | Inborn genetic diseases [RCV004478561] | uncertain significance | 1 | 155660328 | 155660328 | Human | 1 | name |
| 405802959 | CV3360084 | single nucleotide variant | NM_139119.3(YY1AP1):c.1708G>A (p.Gly570Ser) | Inborn genetic diseases [RCV004478562] | uncertain significance | 1 | 155660202 | 155660202 | Human | 1 | name |
| 405802961 | CV3360085 | single nucleotide variant | NM_139119.3(YY1AP1):c.1733A>G (p.Asn578Ser) | Inborn genetic diseases [RCV004478563] | likely benign | 1 | 155660177 | 155660177 | Human | 1 | name |
| 405802967 | CV3360088 | single nucleotide variant | NM_139119.3(YY1AP1):c.2179T>C (p.Ser727Pro) | Inborn genetic diseases [RCV004478566] | likely benign | 1 | 155659731 | 155659731 | Human | 1 | name |
| 407456543 | CV3493897 | single nucleotide variant | NM_139119.3(YY1AP1):c.1217A>G (p.Gln406Arg) | Inborn genetic diseases [RCV004686017] | uncertain significance | 1 | 155660693 | 155660693 | Human | 1 | name |
| 12791947 | CV362480 | single nucleotide variant | NM_139119.3(YY1AP1):c.1976T>A (p.Leu659Ter) | Grange syndrome [RCV000417119] | pathogenic | 1 | 155659934 | 155659934 | Human | 1 | name |
| 12791972 | CV362481 | single nucleotide variant | NM_139119.3(YY1AP1):c.1987G>T (p.Glu663Ter) | Grange syndrome [RCV000417123] | pathogenic | 1 | 155659923 | 155659923 | Human | 1 | name |
| 597631277 | CV3627428 | single nucleotide variant | NM_139119.3(YY1AP1):c.1094A>G (p.Gln365Arg) | Inborn genetic diseases [RCV004967627] | uncertain significance | 1 | 155660816 | 155660816 | Human | 1 | name |
| 597631279 | CV3627429 | single nucleotide variant | NM_139119.3(YY1AP1):c.1919A>G (p.Asp640Gly) | Inborn genetic diseases [RCV004967628] | uncertain significance | 1 | 155659991 | 155659991 | Human | 1 | name |
| 597631283 | CV3627431 | single nucleotide variant | NM_139119.3(YY1AP1):c.1265C>G (p.Ser422Cys) | Inborn genetic diseases [RCV004967630] | uncertain significance | 1 | 155660645 | 155660645 | Human | 1 | name |
| 597631288 | CV3627433 | single nucleotide variant | NM_139119.3(YY1AP1):c.1277G>C (p.Ser426Thr) | Inborn genetic diseases [RCV004967632] | uncertain significance | 1 | 155660633 | 155660633 | Human | 1 | name |
| 597631295 | CV3627437 | single nucleotide variant | NM_139119.3(YY1AP1):c.1256C>G (p.Pro419Arg) | Inborn genetic diseases [RCV004967635] | uncertain significance | 1 | 155660654 | 155660654 | Human | 1 | name |
| 597631298 | CV3627438 | single nucleotide variant | NM_139119.3(YY1AP1):c.2044C>T (p.Pro682Ser) | Inborn genetic diseases [RCV004967636] | uncertain significance | 1 | 155659866 | 155659866 | Human | 1 | name |
| 598196179 | CV3930169 | single nucleotide variant | NM_139119.3(YY1AP1):c.1189G>A (p.Asp397Asn) | Inborn genetic diseases [RCV005313471] | likely benign | 1 | 155660721 | 155660721 | Human | 1 | name |
| 598242545 | CV3930171 | single nucleotide variant | NM_139119.3(YY1AP1):c.1756C>G (p.Gln586Glu) | Inborn genetic diseases [RCV005297132] | uncertain significance | 1 | 155660154 | 155660154 | Human | 1 | name |
| 598196189 | CV3930173 | single nucleotide variant | NM_139119.3(YY1AP1):c.1271A>C (p.Gln424Pro) | Inborn genetic diseases [RCV005313473] | uncertain significance | 1 | 155660639 | 155660639 | Human | 1 | name |
| 598196194 | CV3930174 | single nucleotide variant | NM_139119.3(YY1AP1):c.1438C>G (p.Pro480Ala) | Inborn genetic diseases [RCV005313474] | uncertain significance | 1 | 155660472 | 155660472 | Human | 1 | name |
| 598196198 | CV3930175 | single nucleotide variant | NM_139119.3(YY1AP1):c.1139A>C (p.Tyr380Ser) | Inborn genetic diseases [RCV005313475] | uncertain significance | 1 | 155660771 | 155660771 | Human | 1 | name |
| 598196203 | CV3930176 | single nucleotide variant | NM_139119.3(YY1AP1):c.1327C>G (p.Pro443Ala) | Inborn genetic diseases [RCV005313476] | uncertain significance | 1 | 155660583 | 155660583 | Human | 1 | name |
| 598242551 | CV3930177 | single nucleotide variant | NM_139119.3(YY1AP1):c.1260C>A (p.Ser420Arg) | Inborn genetic diseases [RCV005297133] | uncertain significance | 1 | 155660650 | 155660650 | Human | 1 | name |
| 15112476 | CV706716 | single nucleotide variant | NM_139119.3(YY1AP1):c.1719G>A (p.Met573Ile) | not provided [RCV000961305] | benign | 1 | 155660191 | 155660191 | Human | | name |
| 15121624 | CV706717 | single nucleotide variant | NM_139119.3(YY1AP1):c.1456A>G (p.Met486Val) | not provided [RCV000962928] | benign | 1 | 155660454 | 155660454 | Human | | name |
| 15126635 | CV706718 | single nucleotide variant | NM_139119.3(YY1AP1):c.1405C>G (p.Leu469Val) | not provided [RCV000963773] | benign | 1 | 155660505 | 155660505 | Human | | name |
| 15112483 | CV706719 | single nucleotide variant | NM_139119.3(YY1AP1):c.1304A>G (p.Gln435Arg) | not provided [RCV000961306] | benign | 1 | 155660606 | 155660606 | Human | | name |
| 8624727 | CV79841 | single nucleotide variant | NM_001198899.1(YY1AP1):c.2199G>A (p.Glu733=) | Malignant melanoma [RCV000059917] | not provided | 1 | 155659678 | 155659678 | Human | | name |
| 405711701 | CV3225894 | duplication | NM_139119.3(YY1AP1):c.1483_1484dup (p.Ser497fs) | Grange syndrome [RCV003990953] | uncertain significance | 1 | 155660425 | 155660426 | Human | 1 | name |
| 12791703 | CV362482 | microsatellite | NM_139119.3(YY1AP1):c.1489_1492del (p.Glu498fs) | Grange syndrome [RCV000417116] | pathogenic | 1 | 155660418 | 155660421 | Human | | name |