ClinVar Miner

List of variants in gene EHMT1 reported as uncertain significance for Kleefstra syndrome 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 203
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HGVS dbSNP
NC_000009.11:g.(?_140695312)_(140729425_?)dup
NC_000009.11:g.(?_140728781)_(140729425_?)dup
NM_024757.5(EHMT1):c.1008C>A (p.Ser336Arg) rs760537869
NM_024757.5(EHMT1):c.100G>A (p.Ala34Thr) rs761039277
NM_024757.5(EHMT1):c.1053C>G (p.Asp351Glu)
NM_024757.5(EHMT1):c.1054G>A (p.Asp352Asn)
NM_024757.5(EHMT1):c.1077C>G (p.Asp359Glu)
NM_024757.5(EHMT1):c.1081G>A (p.Gly361Ser) rs143891279
NM_024757.5(EHMT1):c.1089_1090inv (p.Ala364Thr)
NM_024757.5(EHMT1):c.1100C>T (p.Ala367Val) rs764415861
NM_024757.5(EHMT1):c.1105G>A (p.Ala369Thr)
NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu) rs146711478
NM_024757.5(EHMT1):c.1140G>C (p.Glu380Asp) rs368995503
NM_024757.5(EHMT1):c.1148C>T (p.Ser383Leu) rs771654748
NM_024757.5(EHMT1):c.1159C>T (p.Arg387Cys) rs532880924
NM_024757.5(EHMT1):c.1160G>A (p.Arg387His) rs776502547
NM_024757.5(EHMT1):c.116C>G (p.Ala39Gly)
NM_024757.5(EHMT1):c.1170+3A>G
NM_024757.5(EHMT1):c.1170+5G>A
NM_024757.5(EHMT1):c.1177G>T (p.Gly393Trp) rs772187480
NM_024757.5(EHMT1):c.1181A>C (p.Glu394Ala) rs773281152
NM_024757.5(EHMT1):c.1202C>A (p.Ser401Tyr) rs1554863573
NM_024757.5(EHMT1):c.1204G>A (p.Val402Met)
NM_024757.5(EHMT1):c.1213G>A (p.Gly405Arg)
NM_024757.5(EHMT1):c.1222G>C (p.Glu408Gln) rs1564693239
NM_024757.5(EHMT1):c.1265T>G (p.Ile422Ser) rs1564697100
NM_024757.5(EHMT1):c.1279C>T (p.Leu427Phe)
NM_024757.5(EHMT1):c.1283A>G (p.Lys428Arg)
NM_024757.5(EHMT1):c.12C>A (p.Ala4=)
NM_024757.5(EHMT1):c.1336C>T (p.Arg446Trp)
NM_024757.5(EHMT1):c.1337G>A (p.Arg446Gln) rs745964626
NM_024757.5(EHMT1):c.1344T>A (p.Ser448Arg)
NM_024757.5(EHMT1):c.1369G>A (p.Gly457Ser)
NM_024757.5(EHMT1):c.1382A>G (p.Tyr461Cys) rs576338391
NM_024757.5(EHMT1):c.1394C>T (p.Ala465Val)
NM_024757.5(EHMT1):c.1398A>T (p.Gly466=)
NM_024757.5(EHMT1):c.1414G>A (p.Ala472Thr) rs372072542
NM_024757.5(EHMT1):c.141C>G (p.His47Gln)
NM_024757.5(EHMT1):c.142A>C (p.Met48Leu)
NM_024757.5(EHMT1):c.1433G>A (p.Gly478Glu) rs376787713
NM_024757.5(EHMT1):c.1456_1457delinsAA (p.Ser486Asn) rs1564704339
NM_024757.5(EHMT1):c.145G>T (p.Ala49Ser) rs1372403007
NM_024757.5(EHMT1):c.1469G>A (p.Arg490Gln)
NM_024757.5(EHMT1):c.149C>T (p.Ala50Val) rs143155406
NM_024757.5(EHMT1):c.154G>A (p.Gly52Ser) rs200364530
NM_024757.5(EHMT1):c.1567C>T (p.Arg523Trp)
NM_024757.5(EHMT1):c.1590_1607dup (p.Glu531_Ala536dup)
NM_024757.5(EHMT1):c.159G>T (p.Glu53Asp) rs202066668
NM_024757.5(EHMT1):c.1601C>T (p.Thr534Ile)
NM_024757.5(EHMT1):c.1604T>G (p.Leu535Arg)
NM_024757.5(EHMT1):c.1613A>G (p.Asn538Ser) rs1588581251
NM_024757.5(EHMT1):c.1636G>A (p.Val546Met) rs755711930
NM_024757.5(EHMT1):c.1647A>C (p.Glu549Asp)
NM_024757.5(EHMT1):c.164A>G (p.Asn55Ser)
NM_024757.5(EHMT1):c.1655G>A (p.Arg552Gln) rs747623277
NM_024757.5(EHMT1):c.1661C>A (p.Thr554Lys) rs372688489
NM_024757.5(EHMT1):c.1691G>A (p.Arg564His)
NM_024757.5(EHMT1):c.176A>G (p.Glu59Gly) rs1422691901
NM_024757.5(EHMT1):c.1792-9C>A rs1554878665
NM_024757.5(EHMT1):c.1813C>T (p.Pro605Ser)
NM_024757.5(EHMT1):c.1814C>T (p.Pro605Leu) rs373640528
NM_024757.5(EHMT1):c.183C>T (p.Ser61=) rs774448433
NM_024757.5(EHMT1):c.184G>A (p.Asp62Asn) rs112003143
NM_024757.5(EHMT1):c.193_198dup (p.Ser65_His66dup) rs756643740
NM_024757.5(EHMT1):c.1966G>A (p.Gly656Arg)
NM_024757.5(EHMT1):c.1993G>A (p.Gly665Ser)
NM_024757.5(EHMT1):c.2015G>A (p.Gly672Asp) rs1588650182
NM_024757.5(EHMT1):c.2026G>A (p.Gly676Arg) rs757416132
NM_024757.5(EHMT1):c.2035C>G (p.Leu679Val)
NM_024757.5(EHMT1):c.2039C>T (p.Ser680Leu) rs147523309
NM_024757.5(EHMT1):c.2060G>A (p.Gly687Asp)
NM_024757.5(EHMT1):c.2074G>A (p.Val692Met)
NM_024757.5(EHMT1):c.2096C>T (p.Thr699Met) rs141689686
NM_024757.5(EHMT1):c.2110C>T (p.Leu704Phe)
NM_024757.5(EHMT1):c.215A>G (p.His72Arg)
NM_024757.5(EHMT1):c.216C>A (p.His72Gln)
NM_024757.5(EHMT1):c.217A>G (p.Thr73Ala) rs1588326023
NM_024757.5(EHMT1):c.2186C>T (p.Ser729Leu) rs398124404
NM_024757.5(EHMT1):c.2272C>G (p.Leu758Val)
NM_024757.5(EHMT1):c.2320C>A (p.Arg774Ser)
NM_024757.5(EHMT1):c.2338G>A (p.Ala780Thr)
NM_024757.5(EHMT1):c.2340G>A (p.Ala780=)
NM_024757.5(EHMT1):c.2347G>T (p.Ala783Ser) rs1564751310
NM_024757.5(EHMT1):c.2356G>T (p.Val786Leu)
NM_024757.5(EHMT1):c.2382+5G>A rs184722423
NM_024757.5(EHMT1):c.2385G>A (p.Ala795=)
NM_024757.5(EHMT1):c.23C>T (p.Ala8Val) rs375391530
NM_024757.5(EHMT1):c.2420G>A (p.Arg807Lys) rs1064796750
NM_024757.5(EHMT1):c.248A>G (p.Asp83Gly) rs770735510
NM_024757.5(EHMT1):c.2494G>A (p.Val832Met)
NM_024757.5(EHMT1):c.2533C>G (p.Leu845Val)
NM_024757.5(EHMT1):c.2557G>A (p.Glu853Lys)
NM_024757.5(EHMT1):c.2579C>T (p.Ser860Leu)
NM_024757.5(EHMT1):c.2608-3C>T rs1231552364
NM_024757.5(EHMT1):c.2629A>G (p.Met877Val)
NM_024757.5(EHMT1):c.2642C>T (p.Thr881Ile) rs797045554
NM_024757.5(EHMT1):c.2656G>A (p.Val886Met) rs146269774
NM_024757.5(EHMT1):c.2670G>T (p.Lys890Asn)
NM_024757.5(EHMT1):c.2739G>A (p.Ala913=) rs764507326
NM_024757.5(EHMT1):c.275C>G (p.Ala92Gly)
NM_024757.5(EHMT1):c.2761A>G (p.Ile921Val)
NM_024757.5(EHMT1):c.2767G>A (p.Glu923Lys) rs367643028
NM_024757.5(EHMT1):c.2797C>T (p.His933Tyr)
NM_024757.5(EHMT1):c.2839G>A (p.Ala947Thr) rs797045555
NM_024757.5(EHMT1):c.283G>A (p.Gly95Arg)
NM_024757.5(EHMT1):c.2864T>C (p.Val955Ala) rs780044713
NM_024757.5(EHMT1):c.290C>T (p.Ser97Leu) rs571203834
NM_024757.5(EHMT1):c.2927T>G (p.Leu976Arg) rs147956904
NM_024757.5(EHMT1):c.2948C>A (p.Ser983Tyr) rs763031759
NM_024757.5(EHMT1):c.2963C>T (p.Ala988Val) rs1554896118
NM_024757.5(EHMT1):c.2973G>A (p.Met991Ile)
NM_024757.5(EHMT1):c.2974A>G (p.Ser992Gly)
NM_024757.5(EHMT1):c.2975G>A (p.Ser992Asn)
NM_024757.5(EHMT1):c.2992T>G (p.Ser998Ala)
NM_024757.5(EHMT1):c.2993C>T (p.Ser998Leu)
NM_024757.5(EHMT1):c.3011G>T (p.Ser1004Ile) rs138283222
NM_024757.5(EHMT1):c.3035+3G>A rs765407306
NM_024757.5(EHMT1):c.3037G>T (p.Asp1013Tyr)
NM_024757.5(EHMT1):c.3094G>A (p.Glu1032Lys) rs765569983
NM_024757.5(EHMT1):c.3148A>G (p.Met1050Val) rs1564811053
NM_024757.5(EHMT1):c.3173A>T (p.His1058Leu)
NM_024757.5(EHMT1):c.3174_3175delinsCG (p.Leu1059Val)
NM_024757.5(EHMT1):c.3186C>T (p.Cys1062=) rs374547003
NM_024757.5(EHMT1):c.3193A>G (p.Ile1065Val)
NM_024757.5(EHMT1):c.3226G>A (p.Gly1076Ser) rs749054610
NM_024757.5(EHMT1):c.3242G>A (p.Arg1081His)
NM_024757.5(EHMT1):c.3253G>A (p.Asp1085Asn) rs201476843
NM_024757.5(EHMT1):c.3294G>T (p.Glu1098Asp) rs911814791
NM_024757.5(EHMT1):c.32C>T (p.Ala11Val) rs200636818
NM_024757.5(EHMT1):c.3304A>G (p.Ile1102Val) rs752508274
NM_024757.5(EHMT1):c.3305T>C (p.Ile1102Thr)
NM_024757.5(EHMT1):c.3322G>A (p.Ala1108Thr) rs199780189
NM_024757.5(EHMT1):c.334G>A (p.Asp112Asn)
NM_024757.5(EHMT1):c.3355G>A (p.Val1119Ile) rs139394414
NM_024757.5(EHMT1):c.3356T>C (p.Val1119Ala) rs897615767
NM_024757.5(EHMT1):c.335A>T (p.Asp112Val)
NM_024757.5(EHMT1):c.336C>G (p.Asp112Glu) rs757250849
NM_024757.5(EHMT1):c.3374+3G>A rs759589106
NM_024757.5(EHMT1):c.3375G>C (p.Arg1125Ser) rs764006601
NM_024757.5(EHMT1):c.3392A>G (p.Tyr1131Cys) rs753933684
NM_024757.5(EHMT1):c.3400C>T (p.Arg1134Trp) rs778857511
NM_024757.5(EHMT1):c.3417C>T (p.Gly1139=) rs747339529
NM_024757.5(EHMT1):c.3418G>T (p.Val1140Leu)
NM_024757.5(EHMT1):c.349A>G (p.Thr117Ala) rs1430981983
NM_024757.5(EHMT1):c.3529C>T (p.Leu1177Phe)
NM_024757.5(EHMT1):c.3532G>A (p.Asp1178Asn)
NM_024757.5(EHMT1):c.3562G>A (p.Asp1188Asn) rs1588947472
NM_024757.5(EHMT1):c.3583G>A (p.Val1195Ile) rs779218347
NM_024757.5(EHMT1):c.35G>C (p.Arg12Thr) rs777999570
NM_024757.5(EHMT1):c.35G>T (p.Arg12Met) rs777999570
NM_024757.5(EHMT1):c.3609C>T (p.Cys1203=)
NM_024757.5(EHMT1):c.3611A>T (p.Glu1204Val) rs759840211
NM_024757.5(EHMT1):c.361G>A (p.Gly121Ser)
NM_024757.5(EHMT1):c.3659G>A (p.Arg1220Gln)
NM_024757.5(EHMT1):c.3667C>T (p.Arg1223Trp)
NM_024757.5(EHMT1):c.3688C>T (p.Arg1230Cys) rs61744215
NM_024757.5(EHMT1):c.3732G>C (p.Glu1244Asp) rs776780490
NM_024757.5(EHMT1):c.376A>G (p.Ile126Val) rs773781896
NM_024757.5(EHMT1):c.3782C>G (p.Pro1261Arg)
NM_024757.5(EHMT1):c.3791G>A (p.Arg1264Gln) rs545700329
NM_024757.5(EHMT1):c.37G>A (p.Gly13Arg) rs781470751
NM_024757.5(EHMT1):c.3883G>A (p.Ala1295Thr)
NM_024757.5(EHMT1):c.3883G>T (p.Ala1295Ser) rs775220788
NM_024757.5(EHMT1):c.3884C>T (p.Ala1295Val) rs1225363386
NM_024757.5(EHMT1):c.3892C>G (p.Leu1298Val)
NM_024757.5(EHMT1):c.38G>A (p.Gly13Glu) rs925532395
NM_024757.5(EHMT1):c.396_397delinsTG (p.Gln133Glu) rs1554846569
NM_024757.5(EHMT1):c.405G>T (p.Gln135His) rs200982880
NM_024757.5(EHMT1):c.40G>A (p.Glu14Lys)
NM_024757.5(EHMT1):c.437C>T (p.Ser146Leu) rs142652443
NM_024757.5(EHMT1):c.444_445inv (p.Gly149Ser)
NM_024757.5(EHMT1):c.44C>T (p.Pro15Leu)
NM_024757.5(EHMT1):c.466C>G (p.Pro156Ala)
NM_024757.5(EHMT1):c.470G>A (p.Gly157Glu) rs1554846686
NM_024757.5(EHMT1):c.499G>A (p.Ala167Thr) rs141282876
NM_024757.5(EHMT1):c.500C>A (p.Ala167Asp) rs760239482
NM_024757.5(EHMT1):c.505C>T (p.Pro169Ser)
NM_024757.5(EHMT1):c.526C>G (p.Pro176Ala) rs34704821
NM_024757.5(EHMT1):c.529G>C (p.Ala177Pro) rs182595609
NM_024757.5(EHMT1):c.533C>G (p.Thr178Ser)
NM_024757.5(EHMT1):c.538G>T (p.Gly180Trp) rs1588329836
NM_024757.5(EHMT1):c.546G>T (p.Gly182=) rs767742300
NM_024757.5(EHMT1):c.548G>C (p.Ser183Thr)
NM_024757.5(EHMT1):c.581C>G (p.Pro194Arg)
NM_024757.5(EHMT1):c.586G>A (p.Ala196Thr) rs768398355
NM_024757.5(EHMT1):c.610C>T (p.Arg204Cys) rs773281923
NM_024757.5(EHMT1):c.674G>A (p.Arg225Gln) rs1294543188
NM_024757.5(EHMT1):c.676G>A (p.Glu226Lys) rs1554852591
NM_024757.5(EHMT1):c.680C>T (p.Ala227Val)
NM_024757.5(EHMT1):c.689A>G (p.His230Arg)
NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys) rs373269573
NM_024757.5(EHMT1):c.713A>G (p.Asn238Ser) rs1004363452
NM_024757.5(EHMT1):c.737G>C (p.Arg246Pro) rs144871446
NM_024757.5(EHMT1):c.755C>G (p.Pro252Arg) rs775614771
NM_024757.5(EHMT1):c.770A>G (p.His257Arg) rs370539232
NM_024757.5(EHMT1):c.776C>T (p.Ser259Leu)
NM_024757.5(EHMT1):c.797A>G (p.Tyr266Cys) rs753105081
NM_024757.5(EHMT1):c.824-2A>T rs866090137
NM_024757.5(EHMT1):c.82G>C (p.Glu28Gln)
NM_024757.5(EHMT1):c.95T>C (p.Met32Thr) rs1564627371
NM_024757.5(EHMT1):c.97G>T (p.Ala33Ser)
NM_024757.5(EHMT1):c.985G>C (p.Glu329Gln) rs538516467
NM_024757.5(EHMT1):c.988A>G (p.Lys330Glu)

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