ClinVar Miner

List of variants reported as uncertain significance for Weaver syndrome by Invitae

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_004456.5(EZH2):c.907+5G>A rs368128494 0.00019
NM_004456.5(EZH2):c.1947G>A (p.Glu649=) rs760495918 0.00007
NM_004456.5(EZH2):c.98G>A (p.Arg33Lys) rs1196167328 0.00005
NM_004456.5(EZH2):c.118A>G (p.Ser40Gly) rs754403133 0.00002
NM_004456.5(EZH2):c.1087C>T (p.Leu363Phe) rs781431240 0.00001
NM_004456.5(EZH2):c.1178C>T (p.Thr393Met) rs1200905474 0.00001
NM_004456.5(EZH2):c.1198_1203del (p.Lys400_Glu401del) rs756400659 0.00001
NM_004456.5(EZH2):c.568G>A (p.Gly190Arg) rs1808481008 0.00001
NM_004456.5(EZH2):c.623A>G (p.Asp208Gly) rs61753264 0.00001
NM_004456.5(EZH2):c.688A>G (p.Met230Val) rs779951996 0.00001
NM_004456.5(EZH2):c.958C>G (p.Leu320Val) rs6954744 0.00001
NC_000007.13:g.(?_147600637)_(148544390_?)dup
NC_000007.13:g.(?_148504738)_(148544390_?)del
NC_000007.14:g.(?_148807626)_(148819707_?)dup
NM_004456.5(EZH2):c.-1_2del (p.Met1del)
NM_004456.5(EZH2):c.1024G>C (p.Ala342Pro)
NM_004456.5(EZH2):c.1044A>G (p.Ile348Met) rs2129471812
NM_004456.5(EZH2):c.1054C>G (p.Pro352Ala)
NM_004456.5(EZH2):c.1054C>T (p.Pro352Ser)
NM_004456.5(EZH2):c.1070G>C (p.Gly357Ala)
NM_004456.5(EZH2):c.1144G>A (p.Asp382Asn) rs1805036322
NM_004456.5(EZH2):c.1147A>G (p.Thr383Ala)
NM_004456.5(EZH2):c.117+4T>C rs1814379605
NM_004456.5(EZH2):c.1172C>T (p.Thr391Ile) rs1375591963
NM_004456.5(EZH2):c.1181G>C (p.Gly394Ala) rs587778305
NM_004456.5(EZH2):c.1194T>A (p.Asn398Lys) rs2129471668
NM_004456.5(EZH2):c.1198_1200del (p.Lys400del) rs780357774
NM_004456.5(EZH2):c.1200AGA[3] (p.Glu404del) rs775039041
NM_004456.5(EZH2):c.1201G>C (p.Glu401Gln) rs1805019052
NM_004456.5(EZH2):c.1210_1212del (p.Glu404del) rs1805013708
NM_004456.5(EZH2):c.1215G>C (p.Lys405Asn)
NM_004456.5(EZH2):c.1246A>G (p.Asn416Asp)
NM_004456.5(EZH2):c.1258C>G (p.Gln420Glu)
NM_004456.5(EZH2):c.1260A>T (p.Gln420His)
NM_004456.5(EZH2):c.1267A>G (p.Ile423Val)
NM_004456.5(EZH2):c.1286T>A (p.Ile429Asn) rs770327434
NM_004456.5(EZH2):c.1306G>A (p.Glu436Lys)
NM_004456.5(EZH2):c.1330A>G (p.Met444Val) rs1425631167
NM_004456.5(EZH2):c.1364A>G (p.Asn455Ser)
NM_004456.5(EZH2):c.1419G>T (p.Glu473Asp) rs1190049532
NM_004456.5(EZH2):c.1456C>G (p.Pro486Ala)
NM_004456.5(EZH2):c.1474A>T (p.Thr492Ser) rs770006533
NM_004456.5(EZH2):c.1506-16_1506-13del
NM_004456.5(EZH2):c.1506-22_1506-19del
NM_004456.5(EZH2):c.1533A>G (p.Ile511Met) rs1804313910
NM_004456.5(EZH2):c.1574A>G (p.Tyr525Cys)
NM_004456.5(EZH2):c.1613C>A (p.Ser538Ter) rs1804158896
NM_004456.5(EZH2):c.1672+2dup rs2129470090
NM_004456.5(EZH2):c.1682G>T (p.Arg561Leu) rs1164610428
NM_004456.5(EZH2):c.1696C>A (p.Arg566Ser) rs1554486440
NM_004456.5(EZH2):c.1717A>T (p.Thr573Ser)
NM_004456.5(EZH2):c.1763A>G (p.Asp588Gly)
NM_004456.5(EZH2):c.1771C>G (p.Leu591Val)
NM_004456.5(EZH2):c.1841G>C (p.Gly614Ala)
NM_004456.5(EZH2):c.1879G>T (p.Ala627Ser)
NM_004456.5(EZH2):c.188G>A (p.Arg63Gln)
NM_004456.5(EZH2):c.1927A>C (p.Ile643Leu)
NM_004456.5(EZH2):c.1947G>C (p.Glu649Asp)
NM_004456.5(EZH2):c.1949T>C (p.Ile650Thr)
NM_004456.5(EZH2):c.2021del (p.Asn673_Leu674insTer) rs2129468225
NM_004456.5(EZH2):c.2026A>G (p.Asn676Asp)
NM_004456.5(EZH2):c.2029+18G>T rs777082272
NM_004456.5(EZH2):c.2029+3_2029+25del
NM_004456.5(EZH2):c.2029+4T>C
NM_004456.5(EZH2):c.2030-5T>G rs763969852
NM_004456.5(EZH2):c.2048C>T (p.Thr683Ile)
NM_004456.5(EZH2):c.2051G>A (p.Arg684His)
NM_004456.5(EZH2):c.2079T>A (p.Asn693Lys) rs2129467665
NM_004456.5(EZH2):c.208A>G (p.Ile70Val)
NM_004456.5(EZH2):c.2113A>G (p.Met705Val)
NM_004456.5(EZH2):c.2173G>A (p.Glu725Lys)
NM_004456.5(EZH2):c.2195+4G>A rs1392250326
NM_004456.5(EZH2):c.2195+4G>C rs1392250326
NM_004456.5(EZH2):c.2196-2A>G rs1584844649
NM_004456.5(EZH2):c.2220G>C (p.Lys740Asn)
NM_004456.5(EZH2):c.2234A>G (p.Glu745Gly) rs1584844048
NM_004456.5(EZH2):c.2250C>G (p.Ile750Met) rs779629814
NM_004456.5(EZH2):c.239C>T (p.Thr80Ile)
NM_004456.5(EZH2):c.241A>G (p.Arg81Gly)
NM_004456.5(EZH2):c.283G>A (p.Val95Ile) rs2129478065
NM_004456.5(EZH2):c.284T>G (p.Val95Gly)
NM_004456.5(EZH2):c.310G>A (p.Val104Ile)
NM_004456.5(EZH2):c.364-20A>G rs2129477058
NM_004456.5(EZH2):c.432T>G (p.Thr144=) rs2129476946
NM_004456.5(EZH2):c.437T>C (p.Ile146Thr)
NM_004456.5(EZH2):c.442G>A (p.Glu148Lys) rs1808814702
NM_004456.5(EZH2):c.484+6C>T rs2129476856
NM_004456.5(EZH2):c.515T>C (p.Val172Ala)
NM_004456.5(EZH2):c.535G>A (p.Gly179Ser)
NM_004456.5(EZH2):c.536G>C (p.Gly179Ala)
NM_004456.5(EZH2):c.546TGA[2] (p.Asp189del) rs766699965
NM_004456.5(EZH2):c.549T>A (p.Asp183Glu)
NM_004456.5(EZH2):c.557ATG[3] (p.Asp189del) rs587778303
NM_004456.5(EZH2):c.562G>A (p.Asp188Asn) rs1585021829
NM_004456.5(EZH2):c.587G>C (p.Arg196Thr) rs1051056437
NM_004456.5(EZH2):c.625+4T>C
NM_004456.5(EZH2):c.626-3T>C rs775960927
NM_004456.5(EZH2):c.626A>T (p.Asp209Val) rs1807983236
NM_004456.5(EZH2):c.644C>T (p.Pro215Leu)
NM_004456.5(EZH2):c.709G>A (p.Ala237Thr)
NM_004456.5(EZH2):c.71T>C (p.Met24Thr) rs2129485374
NM_004456.5(EZH2):c.729-12G>A
NM_004456.5(EZH2):c.742A>G (p.Thr248Ala)
NM_004456.5(EZH2):c.74G>A (p.Arg25Gln) rs2129485373
NM_004456.5(EZH2):c.754C>T (p.Leu252Phe) rs2129475548
NM_004456.5(EZH2):c.763G>A (p.Ala255Thr)
NM_004456.5(EZH2):c.764C>T (p.Ala255Val)
NM_004456.5(EZH2):c.787A>G (p.Asn263Asp)
NM_004456.5(EZH2):c.811T>C (p.Ser271Pro) rs2129475506
NM_004456.5(EZH2):c.824A>C (p.Glu275Ala)
NM_004456.5(EZH2):c.899G>A (p.Cys300Tyr)
NM_004456.5(EZH2):c.900C>G (p.Cys300Trp)
NM_004456.5(EZH2):c.906T>C (p.Tyr302=)
NM_004456.5(EZH2):c.907+4C>T
NM_004456.5(EZH2):c.946A>G (p.Thr316Ala)
NM_004456.5(EZH2):c.956C>T (p.Ala319Val) rs1805459613
NM_004456.5(EZH2):c.963C>G (p.Asp321Glu)
NM_004456.5(EZH2):c.968A>T (p.Lys323Ile)
NM_004456.5(EZH2):c.9G>C (p.Gln3His) rs1359374351

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