ClinVar Miner

List of variants in gene KMT2D reported as uncertain significance for Kabuki syndrome 1

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Total variants: 95
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HGVS dbSNP
NM_003482.3(KMT2D):c.10233C>T (p.Asp3411=) rs148688181
NM_003482.3(KMT2D):c.10312G>A (p.Val3438Met) rs35087111
NM_003482.3(KMT2D):c.10444C>T (p.Arg3482Trp) rs201127814
NM_003482.3(KMT2D):c.10467G>T (p.Gln3489His) rs535351117
NM_003482.3(KMT2D):c.10522C>T (p.Arg3508Trp) rs777638253
NM_003482.3(KMT2D):c.10993C>G (p.Pro3665Ala) rs112170602
NM_003482.3(KMT2D):c.11043G>A (p.Gln3681=) rs371444130
NM_003482.3(KMT2D):c.11150A>C (p.Gln3717Pro) rs398123705
NM_003482.3(KMT2D):c.11563G>C (p.Ala3855Pro) rs77538244
NM_003482.3(KMT2D):c.11568_11570GCA[6] (p.Gln3863dup) rs748986705
NM_003482.3(KMT2D):c.11599C>A (p.Gln3867Lys) rs1200655258
NM_003482.3(KMT2D):c.11717_11752del (p.3900_3905LQQQQQ[1])
NM_003482.3(KMT2D):c.11815C>G (p.Gln3939Glu) rs1326092141
NM_003482.3(KMT2D):c.11849A>G (p.Gln3950Arg) rs751367935
NM_003482.3(KMT2D):c.11886A>G (p.Gln3962=) rs180784366
NM_003482.3(KMT2D):c.12270G>A (p.Gln4090=) rs370665309
NM_003482.3(KMT2D):c.12566G>C (p.Gly4189Ala) rs532360713
NM_003482.3(KMT2D):c.12768C>T (p.Leu4256=) rs71464946
NM_003482.3(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011
NM_003482.3(KMT2D):c.13001C>T (p.Ala4334Val) rs183702050
NM_003482.3(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689
NM_003482.3(KMT2D):c.13531-10T>C rs769029919
NM_003482.3(KMT2D):c.13671+5dup rs147210845
NM_003482.3(KMT2D):c.13715A>G (p.Asn4572Ser) rs777292389
NM_003482.3(KMT2D):c.1408C>T (p.Pro470Ser) rs761594079
NM_003482.3(KMT2D):c.14840C>A (p.Pro4947His) rs587783694
NM_003482.3(KMT2D):c.14984C>G (p.Thr4995Ser) rs886042207
NM_003482.3(KMT2D):c.15080G>A (p.Arg5027Gln) rs774403945
NM_003482.3(KMT2D):c.15088C>T (p.Arg5030Cys) rs1555185875
NM_003482.3(KMT2D):c.15245T>G (p.Val5082Gly) rs75031009
NM_003482.3(KMT2D):c.15341A>C (p.His5114Pro) rs1565759674
NM_003482.3(KMT2D):c.15361G>T (p.Ala5121Ser) rs79330925
NM_003482.3(KMT2D):c.15499A>G (p.Ser5167Gly) rs752976776
NM_003482.3(KMT2D):c.15565G>A (p.Gly5189Arg) rs1555185701
NM_003482.3(KMT2D):c.15589G>A (p.Ala5197Thr) rs1555185696
NM_003482.3(KMT2D):c.15671G>A (p.Arg5224His) rs3782356
NM_003482.3(KMT2D):c.15694A>G (p.Ile5232Val) rs199593058
NM_003482.3(KMT2D):c.15797G>A (p.Arg5266His) rs201481646
NM_003482.3(KMT2D):c.16211C>G (p.Ser5404Cys) rs1555184837
NM_003482.3(KMT2D):c.16412+13G>A rs587783701
NM_003482.3(KMT2D):c.16480_16482ATC[3] (p.Ile5497del) rs587783704
NM_003482.3(KMT2D):c.176+15G>A rs1415205254
NM_003482.3(KMT2D):c.185C>T (p.Pro62Leu) rs371342351
NM_003482.3(KMT2D):c.1893_1919del (p.Asp632_Glu640del)
NM_003482.3(KMT2D):c.1939C>A (p.Pro647Thr) rs200106242
NM_003482.3(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
NM_003482.3(KMT2D):c.2078C>A (p.Pro693His) rs76663644
NM_003482.3(KMT2D):c.2657C>T (p.Pro886Leu) rs587783709
NM_003482.3(KMT2D):c.2992C>T (p.Pro998Ser) rs143711798
NM_003482.3(KMT2D):c.305G>A (p.Ser102Asn) rs368471915
NM_003482.3(KMT2D):c.376C>G (p.Pro126Ala) rs1311872208
NM_003482.3(KMT2D):c.3803A>C (p.Asp1268Ala) rs74643880
NM_003482.3(KMT2D):c.3982C>T (p.Arg1328Trp) rs754797404
NM_003482.3(KMT2D):c.4083G>C (p.Gln1361His) rs764941
NM_003482.3(KMT2D):c.4123C>T (p.Leu1375=) rs1368572
NM_003482.3(KMT2D):c.4131G>C (p.Gln1377His) rs764942
NM_003482.3(KMT2D):c.4160G>T (p.Gly1387Val) rs1555195461
NM_003482.3(KMT2D):c.432A>G (p.Ala144=) rs1555198633
NM_003482.3(KMT2D):c.4343G>A (p.Cys1448Tyr) rs587783716
NM_003482.3(KMT2D):c.4418+5G>A rs587783717
NM_003482.3(KMT2D):c.4569C>G (p.Cys1523Trp) rs1555194993
NM_003482.3(KMT2D):c.4766G>A (p.Gly1589Asp) rs1555194524
NM_003482.3(KMT2D):c.5267G>A (p.Arg1756Gln) rs908795312
NM_003482.3(KMT2D):c.5645-3C>T rs544332856
NM_003482.3(KMT2D):c.6284G>A (p.Arg2095His) rs374216845
NM_003482.3(KMT2D):c.6518C>T (p.Ser2173Leu) rs765654409
NM_003482.3(KMT2D):c.6573G>A (p.Thr2191=) rs202085637
NM_003482.3(KMT2D):c.6608C>T (p.Thr2203Met) rs770692765
NM_003482.3(KMT2D):c.6640G>A (p.Ala2214Thr) rs587783724
NM_003482.3(KMT2D):c.6733C>G (p.Leu2245Val) rs201931833
NM_003482.3(KMT2D):c.6752C>T (p.Ser2251Leu) rs189199944
NM_003482.3(KMT2D):c.6807C>T (p.Ser2269=) rs73302197
NM_003482.3(KMT2D):c.6844C>T (p.Arg2282Trp) rs587783726
NM_003482.3(KMT2D):c.6902C>T (p.Pro2301Leu) rs1565794840
NM_003482.3(KMT2D):c.7001G>A (p.Arg2334Gln) rs757300574
NM_003482.3(KMT2D):c.7046C>T (p.Pro2349Leu) rs201581582
NM_003482.3(KMT2D):c.7109G>A (p.Arg2370His) rs373234419
NM_003482.3(KMT2D):c.7170G>A (p.Pro2390=) rs3741625
NM_003482.3(KMT2D):c.7198C>G (p.Pro2400Ala) rs35111108
NM_003482.3(KMT2D):c.7249T>G (p.Ser2417Ala) rs1057516188
NM_003482.3(KMT2D):c.7301C>A (p.Ala2434Asp) rs201114196
NM_003482.3(KMT2D):c.7328G>T (p.Arg2443Leu) rs780776865
NM_003482.3(KMT2D):c.7366C>T (p.Arg2456Cys) rs754060706
NM_003482.3(KMT2D):c.7571C>T (p.Thr2524Met) rs760263014
NM_003482.3(KMT2D):c.7705G>A (p.Gly2569Ser) rs201507971
NM_003482.3(KMT2D):c.8064G>A (p.Glu2688=) rs148457961
NM_003482.3(KMT2D):c.8137G>A (p.Ala2713Thr) rs748969707
NM_003482.3(KMT2D):c.8360A>C (p.Asn2787Thr) rs78415116
NM_003482.3(KMT2D):c.8405C>T (p.Ala2802Val) rs1239905273
NM_003482.3(KMT2D):c.8506C>T (p.Arg2836Cys) rs1346754879
NM_003482.3(KMT2D):c.8579G>A (p.Arg2860His) rs377747403
NM_003482.3(KMT2D):c.8774C>T (p.Ala2925Val) rs199547661
NM_003482.3(KMT2D):c.9002A>G (p.Lys3001Arg) rs371231725
NM_003482.3(KMT2D):c.941C>G (p.Ser314Cys) rs1043654062
NM_003482.3(KMT2D):c.968G>A (p.Cys323Tyr) rs78617409

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