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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


277 records found for search term Yy1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
126747066CV1017766single nucleotide variantNM_003403.5(YY1):c.-5C>TGabriele de Vries syndrome [RCV001331053]uncertain significance14100239240100239240Human1name
405269645CV3201773single nucleotide variantNM_003403.5(YY1):c.*9G>AYY1-related disorder [RCV003899679]likely benign14100277609100277609Humanname , trait , alternate_id
405264542CV3189975single nucleotide variantNM_003403.5(YY1):c.904-4T>CYY1-related disorder [RCV003897019]likely benign14100276486100276486Humanname , trait , alternate_id
597871472CV3880686single nucleotide variantNM_003403.5(YY1):c.842+1G>CGabriele de Vries syndrome [RCV005215806]likely pathogenic14100262467100262467Human1name
15104717CV775965single nucleotide variantNM_003403.5(YY1):c.842+9T>Cnot provided [RCV000937440]likely benign14100262475100262475Humanname
152978158CV1671456single nucleotide variantNM_003403.5(YY1):c.1062+1G>AGabriele de Vries syndrome [RCV002227415]pathogenic14100276649100276649Human1name
8583433CV117995single nucleotide variantNM_003403.4(YY1):c.843-1336A>GLung cancer [RCV000098515]uncertain significance14100273362100273362Humanname
401929946CV2807236single nucleotide variantNM_003403.5(YY1):c.9G>A (p.Ser3=)YY1-related disorder [RCV003946538]|not provided [RCV003390447]likely benign14100239253100239253Human1name , trait , alternate_id
596947148CV3547212single nucleotide variantNM_003403.5(YY1):c.18C>T (p.Thr6=)not provided [RCV004811020]likely benign14100239262100239262Humanname
598172385CV3890828single nucleotide variantNM_003403.5(YY1):c.1A>G (p.Met1Val)not provided [RCV005251681]uncertain significance14100239245100239245Humanname
15128361CV753915single nucleotide variantNM_003403.5(YY1):c.30C>T (p.Ala10=)not provided [RCV000919640]likely benign14100239274100239274Humanname
156150513CV2213079single nucleotide variantNM_003403.5(YY1):c.14A>C (p.Asp5Ala)Inborn genetic diseases [RCV002697615]uncertain significance14100239258100239258Human1name
401902273CV2807237single nucleotide variantNM_003403.5(YY1):c.201C>T (p.His67=)YY1-related disorder [RCV003946539]|not provided [RCV003393609]likely benign14100239445100239445Human1name , trait , alternate_id
401902274CV2807238single nucleotide variantNM_003403.5(YY1):c.225T>C (p.His75=)not provided [RCV003393610]likely benign14100239469100239469Humanname
596948026CV3547618single nucleotide variantNM_003403.5(YY1):c.228C>T (p.His76=)not provided [RCV004811923]likely benign14100239472100239472Humanname
155714109CV1760321single nucleotide variantNM_003403.5(YY1):c.73G>A (p.Glu25Lys)not provided [RCV002300827]uncertain significance14100239317100239317Humanname
401829251CV2747327single nucleotide variantNM_003403.5(YY1):c.31A>T (p.Thr11Ser)not provided [RCV003328792]uncertain significance14100239275100239275Humanname
405286340CV3192788single nucleotide variantNM_003403.5(YY1):c.954C>T (p.His318=)YY1-related disorder [RCV003981525]likely benign14100276540100276540Humanname , trait , alternate_id
405267190CV3220157single nucleotide variantNM_003403.5(YY1):c.600G>A (p.Pro200=)YY1-related disorder [RCV003969420]likely benign14100239844100239844Humanname , trait , alternate_id
598242532CV3930166single nucleotide variantNM_003403.5(YY1):c.570C>T (p.Ala190=)Inborn genetic diseases [RCV005297129]likely benign14100239814100239814Human1name
15119656CV784638single nucleotide variantNM_003403.5(YY1):c.306G>A (p.Glu102=)not provided [RCV000979154]likely benign14100239550100239550Humanname
126732847CV1021174single nucleotide variantNM_003403.5(YY1):c.1032A>G (p.Gln344=)Gabriele de Vries syndrome [RCV001334140]uncertain significance14100276618100276618Human1name
127286754CV1151321deletionNM_003403.5(YY1):c.690del (p.Asp231fs)Gabriele de Vries syndrome [RCV001507311]pathogenic14100262307100262307Human1name
151352068CV1322271duplicationNM_003403.5(YY1):c.690dup (p.Asp231fs)not provided [RCV001806894]likely pathogenic14100262306100262307Humanname
155644303CV1708577single nucleotide variantNM_003403.5(YY1):c.1062G>A (p.Gln354=)Gabriele de Vries syndrome [RCV002291110]likely pathogenic14100276648100276648Human1name
156378112CV2207635single nucleotide variantNM_003403.5(YY1):c.244C>T (p.Pro82Ser)Inborn genetic diseases [RCV002678153]uncertain significance14100239488100239488Human1name
243051619CV2403985single nucleotide variantNM_003403.5(YY1):c.293A>G (p.His98Arg)not provided [RCV003129040]uncertain significance14100239537100239537Humanname
243062110CV2414316single nucleotide variantNM_003403.5(YY1):c.166G>A (p.Gly56Ser)Gabriele de Vries syndrome [RCV003139385]uncertain significance14100239410100239410Human1name
243062111CV2414317single nucleotide variantNM_003403.5(YY1):c.188G>A (p.Gly63Asp)Gabriele de Vries syndrome [RCV003139386]uncertain significance14100239432100239432Human1name
243062113CV2414319single nucleotide variantNM_003403.5(YY1):c.194A>G (p.His65Arg)Gabriele de Vries syndrome [RCV003139388]|Inborn genetic diseases [RCV003239321]|not provided [RCV003395711]likely benign|uncertain significance14100239438100239438Human2name
405265256CV3185549single nucleotide variantNM_003403.5(YY1):c.1134C>T (p.Thr378=)not provided [RCV003886113]likely benign14100277489100277489Humanname
405266843CV3186716single nucleotide variantNM_003403.5(YY1):c.1167T>C (p.Gly389=)not provided [RCV003886797]likely benign14100277522100277522Humanname
405802927CV3360069single nucleotide variantNM_003403.5(YY1):c.144C>G (p.Asp48Glu)Inborn genetic diseases [RCV004478547]uncertain significance14100239388100239388Human1name
405802929CV3360070single nucleotide variantNM_003403.5(YY1):c.199C>G (p.His67Asp)Inborn genetic diseases [RCV004478548]uncertain significance14100239443100239443Human1name
405802931CV3360071single nucleotide variantNM_003403.5(YY1):c.209A>C (p.His70Pro)Inborn genetic diseases [RCV004478549]uncertain significance14100239453100239453Human1name
407427837CV3412135single nucleotide variantNM_003403.5(YY1):c.281C>T (p.Pro94Leu)not provided [RCV004592306]uncertain significance14100239525100239525Humanname
408390746CV3520995single nucleotide variantNM_003403.5(YY1):c.233A>G (p.His78Arg)not provided [RCV004762817]uncertain significance14100239477100239477Humanname
598196171CV3930165single nucleotide variantNM_003403.5(YY1):c.118G>C (p.Val40Leu)Inborn genetic diseases [RCV005313469]uncertain significance14100239362100239362Human1name
616935959CV4015894single nucleotide variantNM_003403.5(YY1):c.178G>A (p.Gly60Ser)not provided [RCV005414758]uncertain significance14100239422100239422Humanname
15193808CV725548single nucleotide variantNM_003403.5(YY1):c.141G>C (p.Glu47Asp)not provided [RCV000889047]benign14100239385100239385Humanname
25318709CV805777deletionNM_003403.5(YY1):c.385del (p.Asp129fs)not provided [RCV001008768]pathogenic14100239628100239628Humanname
38497728CV948423single nucleotide variantNM_003403.5(YY1):c.193C>T (p.His65Tyr)Inborn genetic diseases [RCV003346394]|not provided [RCV001227270]uncertain significance14100239437100239437Human1name
42723669CV984601single nucleotide variantNM_003403.5(YY1):c.202G>A (p.Ala68Thr)Gabriele de Vries syndrome [RCV001291657]uncertain significance14100239446100239446Human1name
126747070CV1017767single nucleotide variantNM_003403.5(YY1):c.527G>A (p.Gly176Asp)Gabriele de Vries syndrome [RCV001331054]likely pathogenic14100239771100239771Human1name
126747062CV1017768single nucleotide variantNM_003403.5(YY1):c.562G>A (p.Gly188Ser)Gabriele de Vries syndrome [RCV001331052]uncertain significance14100239806100239806Human1name
150550482CV1300272single nucleotide variantNM_003403.5(YY1):c.742C>T (p.Pro248Ser)not provided [RCV001765742]uncertain significance14100262366100262366Humanname
151234237CV1320200single nucleotide variantNM_003403.5(YY1):c.985G>C (p.Glu329Gln)not provided [RCV001799823]likely pathogenic|uncertain significance14100276571100276571Humanname
151350314CV1324668single nucleotide variantNM_003403.5(YY1):c.514G>T (p.Val172Phe)Gabriele de Vries syndrome [RCV001809113]uncertain significance14100239758100239758Human1name
151662328CV1333032single nucleotide variantNM_003403.5(YY1):c.608A>G (p.Lys203Arg)Gabriele de Vries syndrome [RCV001837264]uncertain significance14100239852100239852Human1name
152080289CV1666932single nucleotide variantNM_003403.5(YY1):c.727A>G (p.Ile243Val)not provided [RCV002211277]uncertain significance14100262351100262351Humanname
153346819CV1694220single nucleotide variantNM_003403.5(YY1):c.976G>A (p.Val326Ile)Neurodevelopmental disorder [RCV002277636]uncertain significance14100276562100276562Human1name
155643714CV1709495single nucleotide variantNM_003403.5(YY1):c.430G>A (p.Asp144Asn)Gabriele de Vries syndrome [RCV002292371]uncertain significance14100239674100239674Human1name
156280639CV2224194single nucleotide variantNM_003403.5(YY1):c.911C>T (p.Thr304Ile)Inborn genetic diseases [RCV002747076]uncertain significance14100276497100276497Human1name
156340230CV2229443single nucleotide variantNM_003403.5(YY1):c.578C>T (p.Ala193Val)Inborn genetic diseases [RCV002719029]uncertain significance14100239822100239822Human1name
156010374CV2291008single nucleotide variantNM_003403.5(YY1):c.541G>T (p.Gly181Cys)Inborn genetic diseases [RCV002884050]uncertain significance14100239785100239785Human1name
243053992CV2416469single nucleotide variantNM_003403.5(YY1):c.674C>T (p.Ser225Phe)not provided [RCV003149530]uncertain significance14100239918100239918Humanname
401768256CV2735239single nucleotide variantNM_003403.5(YY1):c.550A>G (p.Ser184Gly)Inborn genetic diseases [RCV003302510]uncertain significance14100239794100239794Human1name
401913589CV2797572single nucleotide variantNM_003403.5(YY1):c.989G>A (p.Cys330Tyr)YY1-related disorder [RCV003427890]uncertain significance14100276575100276575Humanname , trait , alternate_id
401911266CV2800250single nucleotide variantNM_003403.5(YY1):c.683A>G (p.Glu228Gly)Inborn genetic diseases [RCV004963622]|YY1-related disorder [RCV003399489]uncertain significance14100262307100262307Human2name , trait , alternate_id
401929948CV2807239single nucleotide variantNM_003403.5(YY1):c.572G>C (p.Gly191Ala)YY1-related disorder [RCV004741601]|not provided [RCV003390448]benign|likely benign14100239816100239816Human1name , trait , alternate_id
401914868CV2830868single nucleotide variantNM_003403.5(YY1):c.952C>T (p.His318Tyr)not provided [RCV003442607]uncertain significance14100276538100276538Humanname
404999537CV2851522single nucleotide variantNM_003403.5(YY1):c.487G>A (p.Gly163Ser)Gabriele de Vries syndrome [RCV003493221]likely benign14100239731100239731Human1name
405691622CV3227569single nucleotide variantNM_003403.5(YY1):c.818C>A (p.Pro273His)Gabriele de Vries syndrome [RCV003991914]uncertain significance14100262442100262442Human1name
405802933CV3360072single nucleotide variantNM_003403.5(YY1):c.700C>T (p.His234Tyr)Inborn genetic diseases [RCV004478550]uncertain significance14100262324100262324Human1name
405854844CV3394960single nucleotide variantNM_003403.5(YY1):c.838G>T (p.Ala280Ser)not provided [RCV004555101]uncertain significance14100262462100262462Humanname
407429327CV3413714single nucleotide variantNM_003403.5(YY1):c.980G>A (p.Cys327Tyr)Gabriele de Vries syndrome [RCV004595123]pathogenic14100276566100276566Human1name
408377165CV3501536single nucleotide variantNM_003403.5(YY1):c.943A>G (p.Lys315Glu)not provided [RCV004727594]pathogenic14100276529100276529Humanname
408389907CV3524821single nucleotide variantNM_003403.5(YY1):c.323C>G (p.Thr108Arg)not provided [RCV004769716]uncertain significance14100239567100239567Humanname
408391108CV3527888single nucleotide variantNM_003403.5(YY1):c.488G>C (p.Gly163Ala)not provided [RCV004775159]uncertain significance14100239732100239732Humanname
597631273CV3627425single nucleotide variantNM_003403.5(YY1):c.701A>G (p.His234Arg)Inborn genetic diseases [RCV004967625]uncertain significance14100262325100262325Human1name
597631564CV3627426single nucleotide variantNM_003403.5(YY1):c.469G>A (p.Gly157Ser)Inborn genetic diseases [RCV004967626]uncertain significance14100239713100239713Human1name
597869871CV3771948single nucleotide variantNM_003403.5(YY1):c.509G>A (p.Gly170Asp)not provided [RCV005122458]uncertain significance14100239753100239753Humanname
597935196CV3863648single nucleotide variantNM_003403.5(YY1):c.893G>A (p.Cys298Tyr)not provided [RCV005207461]uncertain significance14100274748100274748Humanname
598127728CV3888302single nucleotide variantNM_003403.5(YY1):c.809T>C (p.Leu270Pro)not provided [RCV005242988]uncertain significance14100262433100262433Humanname
617149462CV4017544single nucleotide variantNM_003403.5(YY1):c.521A>C (p.Lys174Thr)not provided [RCV005417202]uncertain significance14100239765100239765Humanname
13207657CV423704single nucleotide variantNM_003403.5(YY1):c.535A>T (p.Lys179Ter)Gabriele de Vries syndrome [RCV000494728]pathogenic14100239779100239779Human1name
40886832CV973905single nucleotide variantNM_003403.5(YY1):c.956C>T (p.Thr319Ile)Inborn genetic diseases [RCV001266108]uncertain significance14100276542100276542Human1name
126918268CV1048389single nucleotide variantNM_003403.5(YY1):c.1114A>G (p.Thr372Ala)not provided [RCV001361630]uncertain significance14100277469100277469Humanname
150339307CV1174845single nucleotide variantNM_003403.5(YY1):c.1220A>G (p.His407Arg)not provided [RCV001543436]likely pathogenic14100277575100277575Humanname
150408484CV1177737single nucleotide variantNM_003403.5(YY1):c.1111C>T (p.Arg371Cys)not provided [RCV001545917]pathogenic14100277466100277466Humanname
150534646CV1311509single nucleotide variantNM_003403.5(YY1):c.1106A>G (p.Asn369Ser)Gabriele de Vries syndrome [RCV001779355]|Intellectual disability [RCV002295351]|not provided [RCV004779136]pathogenic|likely pathogenic|uncertain significance14100277461100277461Human3name
151352071CV1322273single nucleotide variantNM_003403.5(YY1):c.1124G>A (p.Arg375Gln)not provided [RCV001806896]pathogenic|likely pathogenic14100277479100277479Humanname
152977966CV1671327single nucleotide variantNM_003403.5(YY1):c.1121T>G (p.Val374Gly)Gabriele de Vries syndrome [RCV002227001]likely pathogenic14100277476100277476Human1name
153346946CV1694291single nucleotide variantNM_003403.5(YY1):c.1150G>A (p.Val384Met)Neurodevelopmental disorder [RCV002277707]likely pathogenic14100277505100277505Human1name
155265157CV1695888single nucleotide variantNM_003403.5(YY1):c.1114A>C (p.Thr372Pro)not provided [RCV002280074]pathogenic14100277469100277469Humanname
155643116CV1706546single nucleotide variantNM_003403.5(YY1):c.1036G>T (p.Val346Phe)Gabriele de Vries syndrome [RCV002287620]likely pathogenic14100276622100276622Human1name
156166809CV1866916single nucleotide variantNM_003403.5(YY1):c.1165G>A (p.Gly389Ser)not provided [RCV002508468]likely pathogenic|uncertain significance14100277520100277520Humanname
156434189CV2401850single nucleotide variantNM_003403.5(YY1):c.1057T>C (p.Phe353Leu)Gabriele de Vries syndrome [RCV003110133]likely pathogenic14100276643100276643Human1name
243051021CV2415663single nucleotide variantNM_003403.5(YY1):c.1112G>A (p.Arg371His)Gabriele de Vries syndrome [RCV003148265]likely pathogenic14100277467100277467Human1name
401855980CV2750356single nucleotide variantNM_003403.5(YY1):c.1102T>C (p.Phe368Leu)Gabriele de Vries syndrome [RCV003333895]likely pathogenic14100277457100277457Human1name
401924216CV2795104single nucleotide variantNM_003403.5(YY1):c.1192A>G (p.Thr398Ala)Gabriele de Vries syndrome [RCV003388878]likely pathogenic14100277547100277547Human1name
401944377CV2831632single nucleotide variantNM_003403.5(YY1):c.1025G>A (p.Arg342Gln)Gabriele de Vries syndrome [RCV003445297]likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance14100276611100276611Human1name
407508874CV3496412single nucleotide variantNM_003403.5(YY1):c.1117C>T (p.His373Tyr)not provided [RCV004698253]likely pathogenic14100277472100277472Humanname
408365392CV3499865single nucleotide variantNM_003403.5(YY1):c.1123C>T (p.Arg375Ter)not provided [RCV004721907]pathogenic14100277478100277478Humanname
408380927CV3501733single nucleotide variantNM_003403.5(YY1):c.1148A>G (p.Tyr383Cys)not provided [RCV004729261]likely pathogenic14100277503100277503Humanname
408387788CV3520484single nucleotide variantNM_003403.5(YY1):c.1082G>A (p.Gly361Glu)not provided [RCV004761316]uncertain significance14100277437100277437Humanname
596923456CV3530435single nucleotide variantNM_003403.5(YY1):c.1003G>A (p.Val335Ile)not provided [RCV004777034]uncertain significance14100276589100276589Humanname
598126406CV3881900single nucleotide variantNM_003403.5(YY1):c.1133C>G (p.Thr378Ser)Developmental and epileptic encephalopathy, 78 [RCV005233452]likely pathogenic14100277488100277488Human1name
598123538CV3890379single nucleotide variantNM_003403.5(YY1):c.1100A>C (p.Asp367Ala)not provided [RCV005250898]uncertain significance14100277455100277455Humanname
616936159CV4016221single nucleotide variantNM_003403.5(YY1):c.1062G>C (p.Gln354His)not provided [RCV005415087]uncertain significance14100276648100276648Humanname
13207655CV423700single nucleotide variantNM_003403.5(YY1):c.1138G>T (p.Asp380Tyr)Gabriele de Vries syndrome [RCV000494725]pathogenic14100277493100277493Human1name
13207943CV423701single nucleotide variantNM_003403.5(YY1):c.1097T>C (p.Leu366Pro)Gabriele de Vries syndrome [RCV000494727]pathogenic14100277452100277452Human1name
13207652CV423702single nucleotide variantNM_003403.5(YY1):c.1096C>G (p.Leu366Val)Gabriele de Vries syndrome [RCV000494721]pathogenic14100277451100277451Human1name
13207656CV423703single nucleotide variantNM_003403.5(YY1):c.1030C>T (p.Gln344Ter)Gabriele de Vries syndrome [RCV000494726]pathogenic14100276616100276616Human1name
13531173CV512067single nucleotide variantNM_003403.5(YY1):c.1015A>C (p.Lys339Gln)Inborn genetic diseases [RCV000623107]likely pathogenic|uncertain significance14100276601100276601Human1name
38598866CV964858single nucleotide variantNM_003403.5(YY1):c.1118A>G (p.His373Arg)Gabriele de Vries syndrome [RCV001254142]likely pathogenic14100277473100277473Human1name
8689340CV97428single nucleotide variantNM_003403.5(YY1):c.1115C>G (p.Thr372Arg)not provided [RCV000122507]uncertain significance14100277470100277470Humanname
38462493CV919504microsatelliteNM_003403.5(YY1):c.207CCA[7] (p.His80dup)Gabriele de Vries syndrome [RCV001198476]|not provided [RCV003393876]likely benign|uncertain significance14100239450100239451Humanname
401829979CV2418248deletionNM_003403.5(YY1):c.458_476del (p.Val153fs)Gabriele de Vries syndrome [RCV003329126]pathogenic14100239701100239719Human1name
13212238CV426048deletionNM_003403.5(YY1):c.860_864del (p.Ile287fs)not provided [RCV000498533]pathogenic14100274712100274716Humanname
13705234CV536447microsatelliteNM_003403.5(YY1):c.550_551del (p.Ser184fs)not provided [RCV000657546]likely pathogenic14100239792100239793Humanname
40888953CV973904deletionNM_003403.5(YY1):c.468_483del (p.Gly157fs)Inborn genetic diseases [RCV001266005]|not provided [RCV001268245]pathogenic14100239704100239719Human1name
405854972CV3395289duplicationNM_003403.5(YY1):c.1147_1151dup (p.Cys385fs)Gabriele de Vries syndrome [RCV004555426]pathogenic14100277501100277502Human1name
40887267CV973906deletionNM_003403.5(YY1):c.1159_1161del (p.Phe387del)Inborn genetic diseases [RCV001266764]uncertain significance14100277513100277515Human1name
153349589CV1693636microsatelliteNM_003403.5(YY1):c.144CGA[2] (p.Asp50_Asp51del)not provided [RCV002276005]uncertain significance14100239386100239391Humanname
155998419CV2373288microsatelliteNM_003403.5(YY1):c.207CCA[4] (p.His79_His80del)Inborn genetic diseases [RCV002689832]likely benign14100239451100239456Humanname
243062112CV2414318deletionNM_003403.5(YY1):c.168_185del (p.Asp58_Gly63del)Gabriele de Vries syndrome [RCV003139387]|not provided [RCV003389925]likely benign|uncertain significance14100239402100239419Human1name
401828683CV2743018deletionNM_003403.5(YY1):c.167_172del (p.Gly56_Gly57del)not provided [RCV003325726]uncertain significance14100239407100239412Humanname
401919178CV2794786deletionNM_003403.5(YY1):c.221_241del (p.His74_His80del)not specified [RCV003388461]uncertain significance14100239451100239471Humanname
408389794CV3519047deletionNM_003403.5(YY1):c.288_299del (p.Gln96_His99del)not provided [RCV004762356]uncertain significance14100239529100239540Humanname
408369682CV3502837deletionNM_003403.5(YY1):c.635_640del (p.Ile212_Lys213del)not provided [RCV004723958]uncertain significance14100239876100239881Humanname
598126829CV3882287deletionNM_003403.5(YY1):c.685_690del (p.Lys229_Lys230del)not provided [RCV005233838]uncertain significance14100262307100262312Humanname
617150915CV4019292deletionNM_003403.5(YY1):c.575_589del (p.Ala192_Gly196del)not provided [RCV005423700]uncertain significance14100239814100239828Humanname
405289523CV3218326microsatelliteNM_003403.5(YY1):c.581GCG[5] (p.Gly197_Ala198insGly)YY1-related disorder [RCV003983728]uncertain significance14100239823100239824Humanname , trait , alternate_id
598190125CV4008792microsatelliteNM_003403.5(YY1):c.478GGC[5] (p.Gly163_Ser164insGly)Gabriele de Vries syndrome [RCV005396291]uncertain significance14100239719100239720Humanname
155952138CV1936129deletionNM_003403.5(YY1):c.176_181del (p.His59_Gly61delinsArg)not provided [RCV002511784]likely benign14100239420100239425Humanname
150547116CV1314058insertionNM_003403.5(YY1):c.1040_1041insCGACGGACAACGGCTAGTTTATTTTTACTTGCAGCTTCAAAACCGCCACCTTCCATTGCTTGTCCAGTGATACGGAGACCTTCCTCGGCAGCAAAACGAATCAATTCTGCTGTACG (p.His347_Thr348insAspGlyGlnArgLeuValTyrPheTyrLeuGlnLeuGlnAsnArgHisLeuProLeuLeuValGlnTer)Gabriele de Vries syndrome [RCV001785151]pathogenic14100276626100276627Humanname
155721504CV1781316single nucleotide variantNM_139119.3(YY1AP1):c.-27C>Tnot provided [RCV002306392]likely pathogenic1155688077155688077Humanname
156258775CV2366157single nucleotide variantNM_139119.3(YY1AP1):c.-90C>TInborn genetic diseases [RCV003008804]uncertain significance1155688140155688140Human1name
407456611CV3493898single nucleotide variantNM_139119.3(YY1AP1):c.-59C>TInborn genetic diseases [RCV004686018]uncertain significance1155688109155688109Human1name
597631313CV3627444single nucleotide variantNM_139119.3(YY1AP1):c.-35T>GInborn genetic diseases [RCV004967642]uncertain significance1155688085155688085Human1name
598242555CV3930178single nucleotide variantNM_139119.3(YY1AP1):c.-11C>GInborn genetic diseases [RCV005297134]uncertain significance1155680447155680447Human1name
15194967CV696145single nucleotide variantNM_139119.3(YY1AP1):c.-49T>Cnot provided [RCV000955790]benign1155688099155688099Humanname
15184866CV696146single nucleotide variantNM_139119.3(YY1AP1):c.-95G>Anot provided [RCV000952813]benign1155688145155688145Humanname
15128883CV706721single nucleotide variantNM_139119.3(YY1AP1):c.-60T>Cnot provided [RCV000964162]benign|likely benign1155688110155688110Humanname
15110156CV718272single nucleotide variantNM_139119.3(YY1AP1):c.-30C>Tnot provided [RCV000894004]benign1155688080155688080Humanname
155963362CV2330319single nucleotide variantNM_139119.3(YY1AP1):c.-141C>TInborn genetic diseases [RCV002945119]uncertain significance1155688191155688191Human1name
405289687CV3213148single nucleotide variantNM_139119.3(YY1AP1):c.-145T>AYY1AP1-related disorder [RCV003961919]likely benign1155688195155688195Humanname , trait , alternate_id
405725787CV3235107single nucleotide variantNM_139121.3(YY1AP1):c.-420T>Anot specified [RCV004018138]benign1155688975155688975Humanname
405708816CV3225495single nucleotide variantNM_139119.3(YY1AP1):c.-21+1G>TGrange syndrome [RCV003990551]likely pathogenic1155688070155688070Human1name
13827743CV514308single nucleotide variantNM_139119.3(YY1AP1):c.412-1G>AGrange syndrome [RCV000714980]pathogenic1155672732155672732Human1name
15102185CV729924single nucleotide variantNM_139119.3(YY1AP1):c.324+7C>Tnot provided [RCV000892430]likely benign1155676541155676541Humanname
13827723CV514309single nucleotide variantNM_139119.3(YY1AP1):c.583+23T>GGrange syndrome [RCV000714955]pathogenic1155672537155672537Human1name
156350201CV2122083single nucleotide variantNM_139119.3(YY1AP1):c.-151-43T>Anot provided [RCV002966241]pathogenic1155688244155688244Humanname
156116242CV2349363single nucleotide variantNM_139119.3(YY1AP1):c.-151-58C>TInborn genetic diseases [RCV002980931]uncertain significance1155688259155688259Human1name
401763661CV2704056single nucleotide variantNM_139119.3(YY1AP1):c.-151-61C>TInborn genetic diseases [RCV003281599]uncertain significance1155688262155688262Human1name
401782561CV2719878single nucleotide variantNM_139119.3(YY1AP1):c.-151-20C>TInborn genetic diseases [RCV003309060]uncertain significance1155688221155688221Human1name
405802944CV3360077single nucleotide variantNM_139119.3(YY1AP1):c.-151-91C>AInborn genetic diseases [RCV004478555]uncertain significance1155688292155688292Human1name
405802948CV3360079single nucleotide variantNM_139119.3(YY1AP1):c.-151-89A>GInborn genetic diseases [RCV004478557]uncertain significance1155688290155688290Human1name
405802963CV3360086single nucleotide variantNM_139119.3(YY1AP1):c.-151-38C>TInborn genetic diseases [RCV004478564]uncertain significance1155688239155688239Human1name
405802965CV3360087single nucleotide variantNM_139119.3(YY1AP1):c.-151-34A>GInborn genetic diseases [RCV004478565]likely benign1155688235155688235Human1name
598242540CV3930170single nucleotide variantNM_139119.3(YY1AP1):c.-151-77G>AInborn genetic diseases [RCV005297131]uncertain significance1155688278155688278Human1name
15180475CV706722single nucleotide variantNM_139119.3(YY1AP1):c.-151-68T>CInborn genetic diseases [RCV003353099]|YY1AP1-related disorder [RCV003897967]|not provided [RCV000974162]benign|likely benign1155688269155688269Human2name , trait , alternate_id
15137147CV706723single nucleotide variantNM_139119.3(YY1AP1):c.-151-84A>Gnot provided [RCV000965567]likely benign1155688285155688285Humanname
15107934CV718273single nucleotide variantNM_139119.3(YY1AP1):c.-151-23C>TInborn genetic diseases [RCV004962914]|YY1AP1-related disorder [RCV003957998]|not provided [RCV000893576]likely benign|uncertain significance1155688224155688224Human2name , trait , alternate_id
127273379CV1058423duplicationNM_139119.3(YY1AP1):c.-151-100dupnot provided [RCV001390772]pathogenic1155688300155688301Humanname
155966027CV2206663single nucleotide variantNM_139119.3(YY1AP1):c.-151-122C>TInborn genetic diseases [RCV002687072]uncertain significance1155688323155688323Human1name
156274291CV2293789single nucleotide variantNM_139119.3(YY1AP1):c.-151-185G>AInborn genetic diseases [RCV002896105]|not provided [RCV004691525]uncertain significance1155688386155688386Human1name
155932576CV2400051single nucleotide variantNM_139119.3(YY1AP1):c.-152+213A>GInborn genetic diseases [RCV002774519]uncertain significance1155688446155688446Human1name
329384995CV2454554single nucleotide variantNM_139119.3(YY1AP1):c.-151-206G>AInborn genetic diseases [RCV003214276]uncertain significance1155688407155688407Human1name
405267551CV3219390single nucleotide variantNM_139119.3(YY1AP1):c.-151-186A>GYY1AP1-related disorder [RCV003969632]likely benign1155688387155688387Humanname , trait , alternate_id
405802936CV3360073single nucleotide variantNM_139119.3(YY1AP1):c.-151-161G>CInborn genetic diseases [RCV004478551]uncertain significance1155688362155688362Human1name
596925522CV3542111single nucleotide variantNM_139119.3(YY1AP1):c.-151-158G>TGrange syndrome [RCV004795827]likely pathogenic1155688359155688359Human1name
597631286CV3627432single nucleotide variantNM_139119.3(YY1AP1):c.-151-146C>TInborn genetic diseases [RCV004967631]uncertain significance1155688347155688347Human1name
597631292CV3627435single nucleotide variantNM_139119.3(YY1AP1):c.-151-152C>TInborn genetic diseases [RCV004967634]uncertain significance1155688353155688353Human1name
597631308CV3627442single nucleotide variantNM_139119.3(YY1AP1):c.-151-100G>CInborn genetic diseases [RCV004967640]uncertain significance1155688301155688301Human1name
15108070CV745726single nucleotide variantNM_139119.3(YY1AP1):c.-151-126C>Tnot provided [RCV000916074]likely benign1155688327155688327Humanname
126731970CV1019194microsatelliteNM_139119.3(YY1AP1):c.-151-20_-151-18delGrange syndrome [RCV001333874]uncertain significance1155688219155688221Humanname
15196711CV745725microsatelliteNM_139119.3(YY1AP1):c.-151-128_-151-120delYY1AP1-related disorder [RCV003932990]|not provided [RCV000911773]benign1155688321155688329Humanname , trait , alternate_id
405261257CV3221457single nucleotide variantNM_139119.3(YY1AP1):c.2073A>G (p.Gly691=)YY1AP1-related disorder [RCV003966935]likely benign1155659837155659837Humanname , trait , alternate_id
408378399CV3512427single nucleotide variantNM_139119.3(YY1AP1):c.1453G>A (p.Ala485Thr)YY1AP1-related disorder [RCV004752241]likely benign1155660457155660457Humanname , trait , alternate_id
12791948CV362483single nucleotide variantNM_139119.3(YY1AP1):c.250C>T (p.Gln84Ter)Grange syndrome [RCV000417120]|YY1AP1-related disorder [RCV003409584]pathogenic|likely pathogenic1155676622155676622Human1name , trait , alternate_id
15187639CV696144single nucleotide variantNM_139119.3(YY1AP1):c.1149A>G (p.Leu383=)YY1AP1-related disorder [RCV003978254]|not provided [RCV000953649]likely benign1155660761155660761Human1name , trait , alternate_id
15155804CV718268single nucleotide variantNM_139119.3(YY1AP1):c.1773C>T (p.Ala591=)YY1AP1-related disorder [RCV003910372]|not provided [RCV000880492]likely benign1155660137155660137Human1name , trait , alternate_id
15166029CV718270single nucleotide variantNM_139119.3(YY1AP1):c.1202A>G (p.Lys401Arg)Inborn genetic diseases [RCV002539310]|YY1AP1-related disorder [RCV003955850]|not provided [RCV000882542]likely benign1155660708155660708Human2name , trait , alternate_id
15107769CV718271single nucleotide variantNM_139119.3(YY1AP1):c.975C>T (p.His325=)YY1AP1-related disorder [RCV003968156]|not provided [RCV000893546]likely benign1155661328155661328Human1name , trait , alternate_id
15145526CV731762single nucleotide variantNM_139119.3(YY1AP1):c.2250T>C (p.Leu750=)YY1AP1-related disorder [RCV004751796]|not provided [RCV000900175]benign|likely benign1155659660155659660Human1name , trait , alternate_id
152977915CV1671274deletionNM_139119.3(YY1AP1):c.207del (p.Lys69fs)Grange syndrome [RCV002226948]likely pathogenic1155676665155676665Human1name
156056925CV2320654single nucleotide variantNM_139119.3(YY1AP1):c.38G>T (p.Gly13Val)Inborn genetic diseases [RCV002924803]uncertain significance1155679496155679496Human1name
401763371CV2703789single nucleotide variantNM_139119.3(YY1AP1):c.47A>G (p.Asn16Ser)Inborn genetic diseases [RCV003281505]uncertain significance1155679487155679487Human1name
405205352CV2916214single nucleotide variantNM_139119.3(YY1AP1):c.384G>A (p.Pro128=)not provided [RCV003566429]likely benign1155675037155675037Humanname
405802970CV3360089single nucleotide variantNM_139119.3(YY1AP1):c.58G>C (p.Asp20His)Inborn genetic diseases [RCV004478567]uncertain significance1155679476155679476Human1name
598196175CV3930168single nucleotide variantNM_139119.3(YY1AP1):c.79C>T (p.Arg27Cys)Inborn genetic diseases [RCV005313470]uncertain significance1155679455155679455Human1name
15136896CV745724single nucleotide variantNM_139119.3(YY1AP1):c.702G>A (p.Lys234=)not provided [RCV000921082]likely benign1155670346155670346Humanname
127261799CV1087296deletionNM_139119.3(YY1AP1):c.743del (p.Gly248fs)Grange syndrome [RCV001420675]likely pathogenic1155668763155668763Human1name
156062243CV2323232single nucleotide variantNM_139119.3(YY1AP1):c.260A>C (p.Glu87Ala)Inborn genetic diseases [RCV002950753]uncertain significance1155676612155676612Human1name
156132068CV2365691single nucleotide variantNM_139119.3(YY1AP1):c.225G>C (p.Gln75His)Inborn genetic diseases [RCV002981911]uncertain significance1155676647155676647Human1name
401719952CV2675732single nucleotide variantNM_139119.3(YY1AP1):c.173C>T (p.Ala58Val)Inborn genetic diseases [RCV003243870]likely benign1155676699155676699Human1name
401942849CV2839880single nucleotide variantNM_139119.3(YY1AP1):c.1755C>T (p.Pro585=)not provided [RCV003456667]likely benign1155660155155660155Humanname
597631300CV3627439single nucleotide variantNM_139119.3(YY1AP1):c.293A>C (p.Gln98Pro)Inborn genetic diseases [RCV004967637]uncertain significance1155676579155676579Human1name
598196184CV3930172single nucleotide variantNM_139119.3(YY1AP1):c.102C>A (p.Asn34Lys)Inborn genetic diseases [RCV005313472]uncertain significance1155679432155679432Human1name
15172265CV706720single nucleotide variantNM_139119.3(YY1AP1):c.1158G>A (p.Lys386=)not provided [RCV000972367]benign1155660752155660752Humanname
15103088CV718269single nucleotide variantNM_139119.3(YY1AP1):c.1737G>A (p.Ala579=)not provided [RCV000892605]benign1155660173155660173Humanname
15143238CV731763single nucleotide variantNM_139119.3(YY1AP1):c.1461C>T (p.Pro487=)not provided [RCV000899805]likely benign1155660449155660449Humanname
15120518CV745723single nucleotide variantNM_139119.3(YY1AP1):c.1269C>T (p.Leu423=)not provided [RCV000918335]likely benign1155660641155660641Humanname
126731965CV1019192duplicationNM_139119.3(YY1AP1):c.1951dup (p.Ala651fs)Grange syndrome [RCV001333873]pathogenic1155659958155659959Humanname
150534280CV1299130single nucleotide variantNM_139119.3(YY1AP1):c.567A>T (p.Lys189Asn)not provided [RCV001756823]uncertain significance1155672576155672576Humanname
150536756CV1302914single nucleotide variantNM_139119.3(YY1AP1):c.403A>G (p.Ile135Val)not provided [RCV001763659]uncertain significance1155675018155675018Humanname
155926508CV2208210single nucleotide variantNM_139119.3(YY1AP1):c.976C>T (p.Arg326Trp)Inborn genetic diseases [RCV002683577]uncertain significance1155661327155661327Human1name
156237799CV2224238single nucleotide variantNM_139119.3(YY1AP1):c.872T>C (p.Ile291Thr)Inborn genetic diseases [RCV002713180]uncertain significance1155668634155668634Human1name
155902105CV2237946single nucleotide variantNM_139119.3(YY1AP1):c.986T>C (p.Phe329Ser)Inborn genetic diseases [RCV002748873]uncertain significance1155661317155661317Human1name
156143782CV2296386single nucleotide variantNM_139119.3(YY1AP1):c.575A>G (p.Lys192Arg)Inborn genetic diseases [RCV002850465]uncertain significance1155672568155672568Human1name
329398204CV2464862single nucleotide variantNM_139119.3(YY1AP1):c.596C>A (p.Pro199His)Inborn genetic diseases [RCV003220365]uncertain significance1155670452155670452Human1name
329349993CV2477209deletionNM_139119.3(YY1AP1):c.1303del (p.Gln435fs)not provided [RCV003221534]uncertain significance1155660607155660607Humanname
401776533CV2689173single nucleotide variantNM_139119.3(YY1AP1):c.893C>A (p.Thr298Asn)Inborn genetic diseases [RCV003286462]uncertain significance1155661410155661410Human1name
401749259CV2710161single nucleotide variantNM_139119.3(YY1AP1):c.773T>G (p.Leu258Arg)Inborn genetic diseases [RCV003242695]uncertain significance1155668733155668733Human1name
401875263CV2765968single nucleotide variantNM_139119.3(YY1AP1):c.729T>G (p.Asn243Lys)Inborn genetic diseases [RCV003347646]uncertain significance1155668777155668777Human1name
401866363CV2775519single nucleotide variantNM_139119.3(YY1AP1):c.822A>C (p.Gln274His)Inborn genetic diseases [RCV003359974]uncertain significance1155668684155668684Human1name
401887985CV2781815single nucleotide variantNM_139119.3(YY1AP1):c.433C>G (p.Gln145Glu)Inborn genetic diseases [RCV003367427]uncertain significance1155672710155672710Human1name
401881149CV2789534single nucleotide variantNM_139119.3(YY1AP1):c.442A>G (p.Ile148Val)Inborn genetic diseases [RCV003385276]uncertain significance1155672701155672701Human1name
405802938CV3360074single nucleotide variantNM_139119.3(YY1AP1):c.818G>A (p.Arg273His)Inborn genetic diseases [RCV004478552]likely benign1155668688155668688Human1name
405802972CV3360090single nucleotide variantNM_139119.3(YY1AP1):c.310C>G (p.Gln104Glu)Inborn genetic diseases [RCV004478568]uncertain significance1155676562155676562Human1name
405802974CV3360091single nucleotide variantNM_139119.3(YY1AP1):c.457C>G (p.Gln153Glu)Inborn genetic diseases [RCV004478569]uncertain significance1155672686155672686Human1name
405854850CV3394966single nucleotide variantNM_139119.3(YY1AP1):c.405A>G (p.Ile135Met)Inborn genetic diseases [RCV004968587]|not provided [RCV004555107]uncertain significance1155675016155675016Human1name
407429326CV3413713single nucleotide variantNM_139119.3(YY1AP1):c.923G>C (p.Cys308Ser)Grange syndrome [RCV004595122]uncertain significance1155661380155661380Human1name
407456541CV3493896single nucleotide variantNM_139119.3(YY1AP1):c.977G>A (p.Arg326Gln)Inborn genetic diseases [RCV004686016]uncertain significance1155661326155661326Human1name
407456613CV3493899single nucleotide variantNM_139119.3(YY1AP1):c.374A>G (p.Asn125Ser)Inborn genetic diseases [RCV004686019]likely benign1155675047155675047Human1name
407456615CV3493900single nucleotide variantNM_139119.3(YY1AP1):c.667G>T (p.Val223Leu)Inborn genetic diseases [RCV004686020]uncertain significance1155670381155670381Human1name
596925512CV3530498deletionNM_139119.3(YY1AP1):c.1877del (p.Pro626fs)not provided [RCV004778083]likely pathogenic1155660033155660033Humanname
12791661CV362479single nucleotide variantNM_139119.3(YY1AP1):c.310C>T (p.Gln104Ter)Grange syndrome [RCV000417115]pathogenic1155676562155676562Human1name
597631282CV3627430single nucleotide variantNM_139119.3(YY1AP1):c.965G>A (p.Arg322Lys)Inborn genetic diseases [RCV004967629]uncertain significance1155661338155661338Human1name
597631291CV3627434single nucleotide variantNM_139119.3(YY1AP1):c.616G>T (p.Ala206Ser)Inborn genetic diseases [RCV004967633]uncertain significance1155670432155670432Human1name
597631303CV3627440single nucleotide variantNM_139119.3(YY1AP1):c.700A>G (p.Lys234Glu)Inborn genetic diseases [RCV004967638]uncertain significance1155670348155670348Human1name
597631304CV3627441single nucleotide variantNM_139119.3(YY1AP1):c.428T>C (p.Phe143Ser)Inborn genetic diseases [RCV004967639]uncertain significance1155672715155672715Human1name
597631310CV3627443single nucleotide variantNM_139119.3(YY1AP1):c.553T>C (p.Cys185Arg)Inborn genetic diseases [RCV004967641]uncertain significance1155672590155672590Human1name
598242536CV3930167single nucleotide variantNM_139119.3(YY1AP1):c.965G>C (p.Arg322Thr)Inborn genetic diseases [RCV005297130]uncertain significance1155661338155661338Human1name
126731962CV1019193single nucleotide variantNM_139119.3(YY1AP1):c.1192C>T (p.Arg398Cys)Grange syndrome [RCV001333872]uncertain significance1155660718155660718Human1name
156134284CV2235522single nucleotide variantNM_139119.3(YY1AP1):c.1460C>G (p.Pro487Arg)Inborn genetic diseases [RCV002763131]uncertain significance1155660450155660450Human1name
156024510CV2273875single nucleotide variantNM_139119.3(YY1AP1):c.1426A>C (p.Ser476Arg)Inborn genetic diseases [RCV002844894]uncertain significance1155660484155660484Human1name
155988489CV2285399single nucleotide variantNM_139119.3(YY1AP1):c.2095C>T (p.Arg699Cys)Inborn genetic diseases [RCV002864287]uncertain significance1155659815155659815Human1name
155932462CV2290670single nucleotide variantNM_139119.3(YY1AP1):c.1939G>A (p.Asp647Asn)Inborn genetic diseases [RCV002861176]likely benign1155659971155659971Human1name
156288645CV2327427single nucleotide variantNM_139119.3(YY1AP1):c.1136G>A (p.Arg379Gln)Inborn genetic diseases [RCV002935434]uncertain significance1155660774155660774Human1name
156051416CV2391243single nucleotide variantNM_139119.3(YY1AP1):c.1909A>G (p.Met637Val)Inborn genetic diseases [RCV002759371]likely benign1155660001155660001Human1name
155998144CV2393391single nucleotide variantNM_139119.3(YY1AP1):c.2179T>A (p.Ser727Thr)Inborn genetic diseases [RCV002733915]uncertain significance1155659731155659731Human1name
243050779CV2415578single nucleotide variantNM_139119.3(YY1AP1):c.1484C>T (p.Pro495Leu)Grange syndrome [RCV003148178]uncertain significance1155660426155660426Human1name
329356176CV2442492single nucleotide variantNM_139119.3(YY1AP1):c.1823T>C (p.Leu608Pro)Inborn genetic diseases [RCV003203146]uncertain significance1155660087155660087Human1name
329399782CV2444179single nucleotide variantNM_139119.3(YY1AP1):c.2087G>A (p.Ser696Asn)Inborn genetic diseases [RCV003196843]uncertain significance1155659823155659823Human1name
401741316CV2680379single nucleotide variantNM_139119.3(YY1AP1):c.2053G>A (p.Asp685Asn)Inborn genetic diseases [RCV003251428]uncertain significance1155659857155659857Human1name
401762020CV2699492single nucleotide variantNM_139119.3(YY1AP1):c.2101A>G (p.Thr701Ala)Inborn genetic diseases [RCV003281054]uncertain significance1155659809155659809Human1name
401774149CV2702612single nucleotide variantNM_139119.3(YY1AP1):c.1643T>C (p.Ile548Thr)Inborn genetic diseases [RCV003262448]uncertain significance1155660267155660267Human1name
401783799CV2720444single nucleotide variantNM_139119.3(YY1AP1):c.2095C>A (p.Arg699Ser)Inborn genetic diseases [RCV003309946]uncertain significance1155659815155659815Human1name
401723433CV2724899single nucleotide variantNM_139119.3(YY1AP1):c.1949A>G (p.Asn650Ser)Inborn genetic diseases [RCV003268326]uncertain significance1155659961155659961Human1name
401865340CV2778708single nucleotide variantNM_139119.3(YY1AP1):c.1762A>G (p.Ile588Val)Inborn genetic diseases [RCV003359660]uncertain significance1155660148155660148Human1name
401891509CV2780489single nucleotide variantNM_139119.3(YY1AP1):c.1061A>G (p.Asn354Ser)Inborn genetic diseases [RCV003369479]uncertain significance1155660849155660849Human1name
405802940CV3360075single nucleotide variantNM_139119.3(YY1AP1):c.1028G>A (p.Arg343Gln)Inborn genetic diseases [RCV004478553]likely benign1155660882155660882Human1name
405802942CV3360076single nucleotide variantNM_139119.3(YY1AP1):c.1135C>T (p.Arg379Trp)Inborn genetic diseases [RCV004478554]uncertain significance1155660775155660775Human1name
405802946CV3360078single nucleotide variantNM_139119.3(YY1AP1):c.1339G>A (p.Val447Met)Inborn genetic diseases [RCV004478556]uncertain significance1155660571155660571Human1name
405802950CV3360080single nucleotide variantNM_139119.3(YY1AP1):c.1349T>C (p.Ile450Thr)Inborn genetic diseases [RCV004478558]uncertain significance1155660561155660561Human1name
405802952CV3360081single nucleotide variantNM_139119.3(YY1AP1):c.1417G>A (p.Gly473Arg)Inborn genetic diseases [RCV004478559]uncertain significance1155660493155660493Human1name
405802955CV3360082single nucleotide variantNM_139119.3(YY1AP1):c.1528A>G (p.Lys510Glu)Inborn genetic diseases [RCV004478560]uncertain significance1155660382155660382Human1name
405802957CV3360083single nucleotide variantNM_139119.3(YY1AP1):c.1582C>T (p.Arg528Trp)Inborn genetic diseases [RCV004478561]uncertain significance1155660328155660328Human1name
405802959CV3360084single nucleotide variantNM_139119.3(YY1AP1):c.1708G>A (p.Gly570Ser)Inborn genetic diseases [RCV004478562]uncertain significance1155660202155660202Human1name
405802961CV3360085single nucleotide variantNM_139119.3(YY1AP1):c.1733A>G (p.Asn578Ser)Inborn genetic diseases [RCV004478563]likely benign1155660177155660177Human1name
405802967CV3360088single nucleotide variantNM_139119.3(YY1AP1):c.2179T>C (p.Ser727Pro)Inborn genetic diseases [RCV004478566]likely benign1155659731155659731Human1name
407456543CV3493897single nucleotide variantNM_139119.3(YY1AP1):c.1217A>G (p.Gln406Arg)Inborn genetic diseases [RCV004686017]uncertain significance1155660693155660693Human1name
12791947CV362480single nucleotide variantNM_139119.3(YY1AP1):c.1976T>A (p.Leu659Ter)Grange syndrome [RCV000417119]pathogenic1155659934155659934Human1name
12791972CV362481single nucleotide variantNM_139119.3(YY1AP1):c.1987G>T (p.Glu663Ter)Grange syndrome [RCV000417123]pathogenic1155659923155659923Human1name
597631277CV3627428single nucleotide variantNM_139119.3(YY1AP1):c.1094A>G (p.Gln365Arg)Inborn genetic diseases [RCV004967627]uncertain significance1155660816155660816Human1name
597631279CV3627429single nucleotide variantNM_139119.3(YY1AP1):c.1919A>G (p.Asp640Gly)Inborn genetic diseases [RCV004967628]uncertain significance1155659991155659991Human1name
597631283CV3627431single nucleotide variantNM_139119.3(YY1AP1):c.1265C>G (p.Ser422Cys)Inborn genetic diseases [RCV004967630]uncertain significance1155660645155660645Human1name
597631288CV3627433single nucleotide variantNM_139119.3(YY1AP1):c.1277G>C (p.Ser426Thr)Inborn genetic diseases [RCV004967632]uncertain significance1155660633155660633Human1name
597631295CV3627437single nucleotide variantNM_139119.3(YY1AP1):c.1256C>G (p.Pro419Arg)Inborn genetic diseases [RCV004967635]uncertain significance1155660654155660654Human1name
597631298CV3627438single nucleotide variantNM_139119.3(YY1AP1):c.2044C>T (p.Pro682Ser)Inborn genetic diseases [RCV004967636]uncertain significance1155659866155659866Human1name
598196179CV3930169single nucleotide variantNM_139119.3(YY1AP1):c.1189G>A (p.Asp397Asn)Inborn genetic diseases [RCV005313471]likely benign1155660721155660721Human1name
598242545CV3930171single nucleotide variantNM_139119.3(YY1AP1):c.1756C>G (p.Gln586Glu)Inborn genetic diseases [RCV005297132]uncertain significance1155660154155660154Human1name
598196189CV3930173single nucleotide variantNM_139119.3(YY1AP1):c.1271A>C (p.Gln424Pro)Inborn genetic diseases [RCV005313473]uncertain significance1155660639155660639Human1name
598196194CV3930174single nucleotide variantNM_139119.3(YY1AP1):c.1438C>G (p.Pro480Ala)Inborn genetic diseases [RCV005313474]uncertain significance1155660472155660472Human1name
598196198CV3930175single nucleotide variantNM_139119.3(YY1AP1):c.1139A>C (p.Tyr380Ser)Inborn genetic diseases [RCV005313475]uncertain significance1155660771155660771Human1name
598196203CV3930176single nucleotide variantNM_139119.3(YY1AP1):c.1327C>G (p.Pro443Ala)Inborn genetic diseases [RCV005313476]uncertain significance1155660583155660583Human1name
598242551CV3930177single nucleotide variantNM_139119.3(YY1AP1):c.1260C>A (p.Ser420Arg)Inborn genetic diseases [RCV005297133]uncertain significance1155660650155660650Human1name
15112476CV706716single nucleotide variantNM_139119.3(YY1AP1):c.1719G>A (p.Met573Ile)not provided [RCV000961305]benign1155660191155660191Humanname
15121624CV706717single nucleotide variantNM_139119.3(YY1AP1):c.1456A>G (p.Met486Val)not provided [RCV000962928]benign1155660454155660454Humanname
15126635CV706718single nucleotide variantNM_139119.3(YY1AP1):c.1405C>G (p.Leu469Val)not provided [RCV000963773]benign1155660505155660505Humanname
15112483CV706719single nucleotide variantNM_139119.3(YY1AP1):c.1304A>G (p.Gln435Arg)not provided [RCV000961306]benign1155660606155660606Humanname
8624727CV79841single nucleotide variantNM_001198899.1(YY1AP1):c.2199G>A (p.Glu733=)Malignant melanoma [RCV000059917]not provided1155659678155659678Humanname
405711701CV3225894duplicationNM_139119.3(YY1AP1):c.1483_1484dup (p.Ser497fs)Grange syndrome [RCV003990953]uncertain significance1155660425155660426Human1name
12791703CV362482microsatelliteNM_139119.3(YY1AP1):c.1489_1492del (p.Glu498fs)Grange syndrome [RCV000417116]pathogenic1155660418155660421Humanname