ClinVar Miner

List of variants reported as uncertain significance for Kabuki syndrome 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 242
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HGVS dbSNP gnomAD frequency
NM_001291415.2(KDM6A):c.2018G>A (p.Arg673His) rs369284316 0.00005
NM_001291415.2(KDM6A):c.49G>A (p.Ala17Thr) rs1018780128 0.00005
NM_001291415.2(KDM6A):c.1153A>G (p.Ser385Gly) rs762278314 0.00003
NM_001291415.2(KDM6A):c.1219G>A (p.Gly407Ser) rs1016586399 0.00003
NM_001291415.2(KDM6A):c.1581+6T>C rs765678568 0.00003
NM_001291415.2(KDM6A):c.1677A>C (p.Gln559His) rs763587293 0.00003
NM_001291415.2(KDM6A):c.1730A>C (p.Asn577Thr) rs1359864920 0.00003
NM_001291415.2(KDM6A):c.2180G>A (p.Gly727Asp) rs759576784 0.00003
NM_001291415.2(KDM6A):c.2420C>T (p.Thr807Met) rs757564026 0.00002
NM_001291415.2(KDM6A):c.3589+5T>C rs972968488 0.00002
NM_001291415.2(KDM6A):c.643T>C (p.Tyr215His) rs1402339766 0.00002
NM_001291415.2(KDM6A):c.1178G>A (p.Arg393Gln) rs746746824 0.00001
NM_001291415.2(KDM6A):c.1487A>G (p.Asn496Ser) rs768863219 0.00001
NM_001291415.2(KDM6A):c.1576T>G (p.Leu526Val) rs749218008 0.00001
NM_001291415.2(KDM6A):c.1711C>G (p.Arg571Gly) rs397514628 0.00001
NM_001291415.2(KDM6A):c.1837G>A (p.Ala613Thr) rs751034422 0.00001
NM_001291415.2(KDM6A):c.2080G>T (p.Gly694Trp) rs2044718414 0.00001
NM_001291415.2(KDM6A):c.2410C>T (p.His804Tyr) rs753811835 0.00001
NM_001291415.2(KDM6A):c.2522A>G (p.Asn841Ser) rs747545667 0.00001
NM_001291415.2(KDM6A):c.3146T>C (p.Met1049Thr) rs202194372 0.00001
NM_001291415.2(KDM6A):c.3487C>T (p.Arg1163Cys) rs763592177 0.00001
NM_001291415.2(KDM6A):c.3992G>A (p.Arg1331Gln) rs1473353111 0.00001
NM_001291415.2(KDM6A):c.4208G>A (p.Arg1403Gln) rs370765411 0.00001
NM_001291415.2(KDM6A):c.4310A>T (p.Gln1437Leu) rs1472396434 0.00001
NM_001291415.2(KDM6A):c.533A>G (p.Lys178Arg) rs758358984 0.00001
NM_001291415.2(KDM6A):c.857C>G (p.Ser286Cys) rs749431153 0.00001
NM_001291415.2(KDM6A):c.931A>G (p.Ile311Val) rs777683511 0.00001
NC_000023.10:g.(?_44732798)_(44733253_?)dup
NC_000023.10:g.(?_44732798)_(44970656_?)dup
NC_000023.10:g.(?_44820509)_(44970656_?)dup
NC_000023.10:g.(?_44870186)_(44970656_?)dup
NC_000023.10:g.(?_44935922)_(44970656_?)dup
NM_001291415.2(KDM6A):c.101_102delinsTT (p.Ser34Ile)
NM_001291415.2(KDM6A):c.1043A>T (p.Asp348Val)
NM_001291415.2(KDM6A):c.1097A>G (p.Asn366Ser)
NM_001291415.2(KDM6A):c.1106A>G (p.Gln369Arg) rs1335822460
NM_001291415.2(KDM6A):c.1115T>C (p.Ile372Thr) rs2044211918
NM_001291415.2(KDM6A):c.1148G>C (p.Ser383Thr) rs2147962802
NM_001291415.2(KDM6A):c.1151G>T (p.Cys384Phe)
NM_001291415.2(KDM6A):c.1160C>A (p.Thr387Asn)
NM_001291415.2(KDM6A):c.1194+4A>C
NM_001291415.2(KDM6A):c.1194+6A>G
NM_001291415.2(KDM6A):c.1194G>A (p.Gln398=)
NM_001291415.2(KDM6A):c.1195G>A (p.Ala399Thr)
NM_001291415.2(KDM6A):c.1205G>A (p.Cys402Tyr)
NM_001291415.2(KDM6A):c.1214C>T (p.Pro405Leu) rs1556309489
NM_001291415.2(KDM6A):c.1259AGG[1] (p.Glu421del)
NM_001291415.2(KDM6A):c.1328A>G (p.Gln443Arg)
NM_001291415.2(KDM6A):c.137G>A (p.Arg46Lys)
NM_001291415.2(KDM6A):c.1436A>C (p.Asp479Ala)
NM_001291415.2(KDM6A):c.1474A>T (p.Ser492Cys) rs1438320100
NM_001291415.2(KDM6A):c.1493C>G (p.Ser498Cys)
NM_001291415.2(KDM6A):c.1499A>G (p.Asn500Ser)
NM_001291415.2(KDM6A):c.1507G>A (p.Gly503Ser)
NM_001291415.2(KDM6A):c.1529C>A (p.Pro510His)
NM_001291415.2(KDM6A):c.152G>C (p.Gly51Ala)
NM_001291415.2(KDM6A):c.152G>T (p.Gly51Val)
NM_001291415.2(KDM6A):c.1581+10A>G
NM_001291415.2(KDM6A):c.1597C>T (p.Arg533Cys)
NM_001291415.2(KDM6A):c.1600G>A (p.Ala534Thr)
NM_001291415.2(KDM6A):c.1600G>T (p.Ala534Ser)
NM_001291415.2(KDM6A):c.1601C>G (p.Ala534Gly)
NM_001291415.2(KDM6A):c.1613A>G (p.Asn538Ser) rs2147985031
NM_001291415.2(KDM6A):c.163C>T (p.Arg55Cys) rs1234030940
NM_001291415.2(KDM6A):c.1659G>T (p.Gln553His)
NM_001291415.2(KDM6A):c.1660T>C (p.Phe554Leu) rs2044353947
NM_001291415.2(KDM6A):c.1712G>A (p.Arg571Gln)
NM_001291415.2(KDM6A):c.1712G>C (p.Arg571Pro) rs1459042930
NM_001291415.2(KDM6A):c.1730A>G (p.Asn577Ser)
NM_001291415.2(KDM6A):c.1739C>T (p.Thr580Ile)
NM_001291415.2(KDM6A):c.1744_1746dup (p.Asp582_Ser583insAsp)
NM_001291415.2(KDM6A):c.1747T>C (p.Ser583Pro) rs1194941930
NM_001291415.2(KDM6A):c.1762A>C (p.Asn588His)
NM_001291415.2(KDM6A):c.177C>G (p.Phe59Leu)
NM_001291415.2(KDM6A):c.1811G>C (p.Ser604Thr)
NM_001291415.2(KDM6A):c.1829T>C (p.Val610Ala)
NM_001291415.2(KDM6A):c.1835C>G (p.Pro612Arg)
NM_001291415.2(KDM6A):c.1916G>A (p.Ser639Asn)
NM_001291415.2(KDM6A):c.1918A>G (p.Thr640Ala) rs2044400766
NM_001291415.2(KDM6A):c.1972A>G (p.Asn658Asp)
NM_001291415.2(KDM6A):c.1988A>G (p.Gln663Arg)
NM_001291415.2(KDM6A):c.1996G>T (p.Ala666Ser)
NM_001291415.2(KDM6A):c.200C>T (p.Ala67Val)
NM_001291415.2(KDM6A):c.2018G>C (p.Arg673Pro)
NM_001291415.2(KDM6A):c.2032A>G (p.Ser678Gly)
NM_001291415.2(KDM6A):c.2038G>A (p.Ala680Thr) rs747505929
NM_001291415.2(KDM6A):c.2048C>T (p.Pro683Leu)
NM_001291415.2(KDM6A):c.2065T>C (p.Ser689Pro)
NM_001291415.2(KDM6A):c.2069A>G (p.Asn690Ser) rs2044408983
NM_001291415.2(KDM6A):c.2089A>G (p.Lys697Glu)
NM_001291415.2(KDM6A):c.2090A>G (p.Lys697Arg)
NM_001291415.2(KDM6A):c.2170G>A (p.Ala724Thr)
NM_001291415.2(KDM6A):c.2174G>A (p.Gly725Asp)
NM_001291415.2(KDM6A):c.2185C>G (p.Gln729Glu)
NM_001291415.2(KDM6A):c.2197G>A (p.Gly733Arg)
NM_001291415.2(KDM6A):c.2233G>T (p.Gly745Trp)
NM_001291415.2(KDM6A):c.225+4dup
NM_001291415.2(KDM6A):c.2251C>T (p.Leu751Phe) rs2148039110
NM_001291415.2(KDM6A):c.2269A>G (p.Thr757Ala)
NM_001291415.2(KDM6A):c.2282A>G (p.Gln761Arg)
NM_001291415.2(KDM6A):c.2284C>A (p.Gln762Lys)
NM_001291415.2(KDM6A):c.2302A>G (p.Lys768Glu)
NM_001291415.2(KDM6A):c.2320G>C (p.Gly774Arg)
NM_001291415.2(KDM6A):c.2327T>C (p.Ile776Thr)
NM_001291415.2(KDM6A):c.2345C>G (p.Thr782Arg)
NM_001291415.2(KDM6A):c.2381C>T (p.Ala794Val)
NM_001291415.2(KDM6A):c.2389G>A (p.Glu797Lys)
NM_001291415.2(KDM6A):c.2411A>G (p.His804Arg)
NM_001291415.2(KDM6A):c.2426A>T (p.Asp809Val)
NM_001291415.2(KDM6A):c.2428G>A (p.Ala810Thr)
NM_001291415.2(KDM6A):c.2432T>C (p.Val811Ala) rs190755933
NM_001291415.2(KDM6A):c.2447A>G (p.His816Arg) rs772552174
NM_001291415.2(KDM6A):c.2458A>G (p.Lys820Glu)
NM_001291415.2(KDM6A):c.2461T>C (p.Ser821Pro)
NM_001291415.2(KDM6A):c.2474T>C (p.Leu825Pro)
NM_001291415.2(KDM6A):c.2488C>G (p.Pro830Ala)
NM_001291415.2(KDM6A):c.2494C>G (p.Leu832Val) rs1429606535
NM_001291415.2(KDM6A):c.250A>G (p.Ile84Val) rs1373790479
NM_001291415.2(KDM6A):c.2510T>C (p.Met837Thr)
NM_001291415.2(KDM6A):c.2527A>G (p.Asn843Asp)
NM_001291415.2(KDM6A):c.2528A>G (p.Asn843Ser)
NM_001291415.2(KDM6A):c.2534G>A (p.Gly845Asp)
NM_001291415.2(KDM6A):c.2543C>T (p.Thr848Ile)
NM_001291415.2(KDM6A):c.2552A>G (p.Lys851Arg)
NM_001291415.2(KDM6A):c.2579A>G (p.His860Arg) rs2044749099
NM_001291415.2(KDM6A):c.2584A>G (p.Lys862Glu) rs2148050387
NM_001291415.2(KDM6A):c.25G>C (p.Ala9Pro)
NM_001291415.2(KDM6A):c.2702G>A (p.Ser901Asn)
NM_001291415.2(KDM6A):c.2720A>G (p.Asn907Ser)
NM_001291415.2(KDM6A):c.2726A>G (p.Glu909Gly)
NM_001291415.2(KDM6A):c.2731A>C (p.Met911Leu)
NM_001291415.2(KDM6A):c.2740T>C (p.Ser914Pro)
NM_001291415.2(KDM6A):c.2748C>G (p.Ser916Arg)
NM_001291415.2(KDM6A):c.2752A>C (p.Met918Leu)
NM_001291415.2(KDM6A):c.2815G>A (p.Val939Met)
NM_001291415.2(KDM6A):c.2821A>G (p.Ile941Val)
NM_001291415.2(KDM6A):c.2831G>T (p.Ser944Ile) rs938370546
NM_001291415.2(KDM6A):c.2859G>T (p.Arg953Ser)
NM_001291415.2(KDM6A):c.2890A>G (p.Ser964Gly)
NM_001291415.2(KDM6A):c.2891G>A (p.Ser964Asn)
NM_001291415.2(KDM6A):c.28_39del (p.Thr10_Ala13del)
NM_001291415.2(KDM6A):c.28_39dup (p.Thr10_Ala13dup) rs769370817
NM_001291415.2(KDM6A):c.28_42dup (p.Thr10_Ala14dup) rs2146441027
NM_001291415.2(KDM6A):c.2902G>A (p.Asp968Asn)
NM_001291415.2(KDM6A):c.2957A>G (p.Asp986Gly)
NM_001291415.2(KDM6A):c.2987dup (p.Tyr996Ter) rs2148102838
NM_001291415.2(KDM6A):c.2988C>T (p.Tyr996=)
NM_001291415.2(KDM6A):c.3074T>C (p.Leu1025Pro)
NM_001291415.2(KDM6A):c.308A>G (p.Asn103Ser)
NM_001291415.2(KDM6A):c.3094+6C>T
NM_001291415.2(KDM6A):c.3101G>C (p.Gly1034Ala)
NM_001291415.2(KDM6A):c.3103C>T (p.Leu1035Phe)
NM_001291415.2(KDM6A):c.3115A>C (p.Lys1039Gln)
NM_001291415.2(KDM6A):c.3122T>C (p.Leu1041Ser) rs2148118256
NM_001291415.2(KDM6A):c.3136_3137delinsCG (p.Asn1046Arg)
NM_001291415.2(KDM6A):c.3206C>G (p.Thr1069Arg) rs754171997
NM_001291415.2(KDM6A):c.3277T>G (p.Ser1093Ala)
NM_001291415.2(KDM6A):c.3301G>A (p.Glu1101Lys) rs1271555870
NM_001291415.2(KDM6A):c.3309T>G (p.Asn1103Lys)
NM_001291415.2(KDM6A):c.3315AAG[1] (p.Arg1106del)
NM_001291415.2(KDM6A):c.3325C>T (p.His1109Tyr)
NM_001291415.2(KDM6A):c.3347A>C (p.Glu1116Ala) rs2045465388
NM_001291415.2(KDM6A):c.3356C>T (p.Ser1119Leu) rs2045466032
NM_001291415.2(KDM6A):c.3365+2dup
NM_001291415.2(KDM6A):c.3371GGA[5] (p.Arg1127dup) rs1569538311
NM_001291415.2(KDM6A):c.3380G>A (p.Arg1127Lys)
NM_001291415.2(KDM6A):c.3407T>C (p.Phe1136Ser)
NM_001291415.2(KDM6A):c.341C>T (p.Ser114Phe) rs767039378
NM_001291415.2(KDM6A):c.3478G>C (p.Ala1160Pro)
NM_001291415.2(KDM6A):c.3479C>T (p.Ala1160Val)
NM_001291415.2(KDM6A):c.3488G>A (p.Arg1163His)
NM_001291415.2(KDM6A):c.3493G>A (p.Val1165Ile)
NM_001291415.2(KDM6A):c.3521T>C (p.Val1174Ala)
NM_001291415.2(KDM6A):c.3530C>T (p.Thr1177Ile)
NM_001291415.2(KDM6A):c.3541A>G (p.Met1181Val)
NM_001291415.2(KDM6A):c.3584C>T (p.Thr1195Ile)
NM_001291415.2(KDM6A):c.359A>G (p.Tyr120Cys)
NM_001291415.2(KDM6A):c.3611T>G (p.Phe1204Cys)
NM_001291415.2(KDM6A):c.3613T>C (p.Cys1205Arg) rs1602965199
NM_001291415.2(KDM6A):c.3654G>C (p.Trp1218Cys)
NM_001291415.2(KDM6A):c.3710A>G (p.Asn1237Ser)
NM_001291415.2(KDM6A):c.3730T>A (p.Ser1244Thr) rs1602985775
NM_001291415.2(KDM6A):c.3748G>C (p.Glu1250Gln)
NM_001291415.2(KDM6A):c.3762A>C (p.Glu1254Asp)
NM_001291415.2(KDM6A):c.3810C>A (p.Val1270=)
NM_001291415.2(KDM6A):c.3838G>C (p.Val1280Leu)
NM_001291415.2(KDM6A):c.3851G>A (p.Gly1284Asp)
NM_001291415.2(KDM6A):c.3859A>G (p.Asn1287Asp)
NM_001291415.2(KDM6A):c.3886C>T (p.Leu1296Phe)
NM_001291415.2(KDM6A):c.3887T>C (p.Leu1296Pro)
NM_001291415.2(KDM6A):c.3907T>A (p.Leu1303Met)
NM_001291415.2(KDM6A):c.3910G>T (p.Ala1304Ser) rs2045860597
NM_001291415.2(KDM6A):c.3920G>A (p.Arg1307Gln)
NM_001291415.2(KDM6A):c.39_41dup (p.Ala17_Phe18insAla)
NM_001291415.2(KDM6A):c.39_44dup (p.Ala17_Phe18insAlaAla)
NM_001291415.2(KDM6A):c.400T>C (p.Tyr134His) rs2041728428
NM_001291415.2(KDM6A):c.4033A>G (p.Lys1345Glu)
NM_001291415.2(KDM6A):c.4035G>A (p.Lys1345=)
NM_001291415.2(KDM6A):c.4058A>G (p.Lys1353Arg) rs2148288019
NM_001291415.2(KDM6A):c.406C>T (p.Leu136Phe)
NM_001291415.2(KDM6A):c.4087A>G (p.Ile1363Val) rs2148288652
NM_001291415.2(KDM6A):c.4088T>A (p.Ile1363Asn) rs763097875
NM_001291415.2(KDM6A):c.4100A>G (p.Lys1367Arg) rs2046573753
NM_001291415.2(KDM6A):c.4110A>G (p.Ile1370Met)
NM_001291415.2(KDM6A):c.4148G>A (p.Cys1383Tyr)
NM_001291415.2(KDM6A):c.4151G>A (p.Ser1384Asn) rs1296096294
NM_001291415.2(KDM6A):c.415G>A (p.Val139Ile)
NM_001291415.2(KDM6A):c.4222G>A (p.Val1408Ile) rs2148305714
NM_001291415.2(KDM6A):c.4233A>C (p.Gln1411His)
NM_001291415.2(KDM6A):c.4235A>G (p.Asp1412Gly)
NM_001291415.2(KDM6A):c.4265A>C (p.Glu1422Ala)
NM_001291415.2(KDM6A):c.4276G>T (p.Val1426Leu)
NM_001291415.2(KDM6A):c.4329A>G (p.Thr1443=)
NM_001291415.2(KDM6A):c.4332+9A>C
NM_001291415.2(KDM6A):c.4334C>T (p.Ala1445Val)
NM_001291415.2(KDM6A):c.43G>A (p.Ala15Thr)
NM_001291415.2(KDM6A):c.548A>G (p.Tyr183Cys)
NM_001291415.2(KDM6A):c.54C>A (p.Phe18Leu)
NM_001291415.2(KDM6A):c.563A>G (p.Lys188Arg) rs1569521751
NM_001291415.2(KDM6A):c.583G>A (p.Val195Ile)
NM_001291415.2(KDM6A):c.593A>G (p.Asn198Ser)
NM_001291415.2(KDM6A):c.605T>C (p.Leu202Ser)
NM_001291415.2(KDM6A):c.610A>G (p.Asn204Asp)
NM_001291415.2(KDM6A):c.613G>T (p.Ala205Ser)
NM_001291415.2(KDM6A):c.619+11T>G rs2147777658
NM_001291415.2(KDM6A):c.619+5G>A
NM_001291415.2(KDM6A):c.65A>C (p.Glu22Ala) rs760601613
NM_001291415.2(KDM6A):c.660A>T (p.Lys220Asn) rs587778423
NM_001291415.2(KDM6A):c.696G>T (p.Leu232Phe)
NM_001291415.2(KDM6A):c.69G>T (p.Lys23Asn)
NM_001291415.2(KDM6A):c.727G>A (p.Ala243Thr) rs2147917312
NM_001291415.2(KDM6A):c.748+4T>C rs776667031
NM_001291415.2(KDM6A):c.787G>A (p.Ala263Thr)
NM_001291415.2(KDM6A):c.813G>C (p.Gln271His)
NM_001291415.2(KDM6A):c.815A>G (p.Tyr272Cys) rs587778421
NM_001291415.2(KDM6A):c.876G>A (p.Arg292=)
NM_001291415.2(KDM6A):c.883T>G (p.Ser295Ala)
NM_001291415.2(KDM6A):c.887G>A (p.Ser296Asn)
NM_001291415.2(KDM6A):c.913A>G (p.Ile305Val) rs2044200158
NM_001291415.2(KDM6A):c.970A>G (p.Ile324Val)
NM_001291415.2(KDM6A):c.975-3C>T
NM_001291415.2(KDM6A):c.975T>C (p.Gly325=)

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