ClinVar Miner

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

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Total variants: 121
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HGVS dbSNP
NM_003482.3(KMT2D):c.*1026G>T rs886049465
NM_003482.3(KMT2D):c.*1043del rs886049464
NM_003482.3(KMT2D):c.*108G>C rs886049470
NM_003482.3(KMT2D):c.*127C>G rs886049469
NM_003482.3(KMT2D):c.*1322A>G rs886049463
NM_003482.3(KMT2D):c.*1505T>G rs886049462
NM_003482.3(KMT2D):c.*1529G>C rs765434154
NM_003482.3(KMT2D):c.*1693G>A rs886049461
NM_003482.3(KMT2D):c.*1694A>T rs886049460
NM_003482.3(KMT2D):c.*1982T>A rs886049459
NM_003482.3(KMT2D):c.*1982del rs879897260
NM_003482.3(KMT2D):c.*204C>G rs886049468
NM_003482.3(KMT2D):c.*207C>T rs546353502
NM_003482.3(KMT2D):c.*2387C>T rs553627354
NM_003482.3(KMT2D):c.*296del rs745739172
NM_003482.3(KMT2D):c.*298C>T rs886049467
NM_003482.3(KMT2D):c.*455A>C rs886049466
NM_003482.3(KMT2D):c.*69G>T rs886049471
NM_003482.3(KMT2D):c.1076G>A (p.Arg359His) rs779668384
NM_003482.3(KMT2D):c.10774A>G (p.Met3592Val) rs372758101
NM_003482.3(KMT2D):c.11162_11167TGCAGC[3] (p.3721_3722LQ[3]) rs771711980
NM_003482.3(KMT2D):c.11178A>G (p.Gln3726=) rs753715045
NM_003482.3(KMT2D):c.11195A>G (p.Gln3732Arg) rs886049477
NM_003482.3(KMT2D):c.11408G>C (p.Gly3803Ala)
NM_003482.3(KMT2D):c.11671G>A (p.Ala3891Thr) rs886049476
NM_003482.3(KMT2D):c.11681T>C (p.Met3894Thr) rs1443728446
NM_003482.3(KMT2D):c.11723_11728AGCAAC[1] (p.Gln3910_Gln3911del) rs398123709
NM_003482.3(KMT2D):c.11850_11852GCA[1] (p.Gln3954del) rs886049475
NM_003482.3(KMT2D):c.11945G>C (p.Arg3982Pro) rs760983900
NM_003482.3(KMT2D):c.12339A>G (p.Gly4113=)
NM_003482.3(KMT2D):c.12478C>G (p.Leu4160Val) rs1437975816
NM_003482.3(KMT2D):c.12626C>T (p.Pro4209Leu)
NM_003482.3(KMT2D):c.12682C>G (p.Gln4228Glu) rs745466012
NM_003482.3(KMT2D):c.12691C>T (p.Leu4231=) rs760205474
NM_003482.3(KMT2D):c.12780A>G (p.Gln4260=) rs555842651
NM_003482.3(KMT2D):c.12803G>A (p.Gly4268Glu) rs368301050
NM_003482.3(KMT2D):c.12945A>C (p.Gln4315His) rs886049474
NM_003482.3(KMT2D):c.13071G>C (p.Arg4357Ser) rs533214351
NM_003482.3(KMT2D):c.13386C>T (p.Leu4462=) rs759673318
NM_003482.3(KMT2D):c.13457A>G (p.Glu4486Gly) rs886049473
NM_003482.3(KMT2D):c.13630G>A (p.Gly4544Arg) rs778793714
NM_003482.3(KMT2D):c.13633G>T (p.Val4545Phe) rs753655111
NM_003482.3(KMT2D):c.14161C>T (p.Arg4721Cys) rs777064703
NM_003482.3(KMT2D):c.14202C>T (p.Asp4734=) rs200979074
NM_003482.3(KMT2D):c.14203C>T (p.Arg4735Trp) rs751383638
NM_003482.3(KMT2D):c.14207C>T (p.Ala4736Val) rs886049472
NM_003482.3(KMT2D):c.14436C>T (p.Pro4812=) rs369799687
NM_003482.3(KMT2D):c.1446A>G (p.Ala482=) rs781413067
NM_003482.3(KMT2D):c.14644-3C>G rs1555186093
NM_003482.3(KMT2D):c.1467G>A (p.Leu489=)
NM_003482.3(KMT2D):c.15686G>A (p.Arg5229His) rs201628357
NM_003482.3(KMT2D):c.15694A>G (p.Ile5232Val) rs199593058
NM_003482.3(KMT2D):c.16566G>A (p.Lys5522=) rs757316408
NM_003482.3(KMT2D):c.1725A>T (p.Pro575=) rs371243627
NM_003482.3(KMT2D):c.175A>G (p.Ser59Gly) rs1555198862
NM_003482.3(KMT2D):c.1844C>G (p.Ser615Cys) rs1565819202
NM_003482.3(KMT2D):c.188T>C (p.Val63Ala) rs886049488
NM_003482.3(KMT2D):c.2186C>T (p.Pro729Leu) rs587778452
NM_003482.3(KMT2D):c.2220G>T (p.Gly740=) rs368986210
NM_003482.3(KMT2D):c.2232A>C (p.Ser744=) rs200155807
NM_003482.3(KMT2D):c.2406G>A (p.Glu802=) rs781090162
NM_003482.3(KMT2D):c.2420C>A (p.Ser807Tyr) rs757089451
NM_003482.3(KMT2D):c.2533C>T (p.Arg845Trp) rs746841307
NM_003482.3(KMT2D):c.2671T>G (p.Leu891Val) rs886049485
NM_003482.3(KMT2D):c.2726C>T (p.Ser909Phe)
NM_003482.3(KMT2D):c.2737G>A (p.Glu913Lys) rs199724002
NM_003482.3(KMT2D):c.2798-8C>G rs867926537
NM_003482.3(KMT2D):c.295C>T (p.Pro99Ser) rs886049487
NM_003482.3(KMT2D):c.2995A>G (p.Met999Val) rs368584537
NM_003482.3(KMT2D):c.307C>T (p.Pro103Ser)
NM_003482.3(KMT2D):c.3156C>T (p.Pro1052=) rs770342892
NM_003482.3(KMT2D):c.3161C>T (p.Pro1054Leu) rs758697574
NM_003482.3(KMT2D):c.3298G>C (p.Asp1100His) rs745673119
NM_003482.3(KMT2D):c.3352C>T (p.Leu1118=) rs765867951
NM_003482.3(KMT2D):c.3471C>T (p.Pro1157=) rs770863450
NM_003482.3(KMT2D):c.3688C>T (p.Pro1230Ser)
NM_003482.3(KMT2D):c.3976C>T (p.Arg1326Trp) rs886049484
NM_003482.3(KMT2D):c.4000T>G (p.Ser1334Ala) rs750081274
NM_003482.3(KMT2D):c.4151_4152delinsAA (p.Gly1384Glu) rs1565809602
NM_003482.3(KMT2D):c.4222T>G (p.Cys1408Gly) rs1555195432
NM_003482.3(KMT2D):c.4571G>A (p.Arg1524His) rs886049483
NM_003482.3(KMT2D):c.4584-10T>C rs755136735
NM_003482.3(KMT2D):c.5231G>A (p.Ser1744Asn) rs377119237
NM_003482.3(KMT2D):c.5251_5253AAG[2] (p.Lys1753del) rs886049482
NM_003482.3(KMT2D):c.5319+3G>A rs372897046
NM_003482.3(KMT2D):c.5594C>T (p.Thr1865Ile) rs886049481
NM_003482.3(KMT2D):c.5648T>C (p.Leu1883Pro) rs370219057
NM_003482.3(KMT2D):c.6042G>T (p.Gln2014His) rs1161895683
NM_003482.3(KMT2D):c.624A>G (p.Lys208=) rs1565823783
NM_003482.3(KMT2D):c.6284G>A (p.Arg2095His) rs374216845
NM_003482.3(KMT2D):c.6416C>T (p.Ala2139Val) rs754730634
NM_003482.3(KMT2D):c.6518C>T (p.Ser2173Leu) rs765654409
NM_003482.3(KMT2D):c.6585C>T (p.Thr2195=) rs760993744
NM_003482.3(KMT2D):c.6868G>A (p.Glu2290Lys) rs886049480
NM_003482.3(KMT2D):c.695G>C (p.Cys232Ser) rs886049486
NM_003482.3(KMT2D):c.7036G>A (p.Gly2346Ser) rs761219768
NM_003482.3(KMT2D):c.7060C>T (p.Pro2354Ser) rs369458206
NM_003482.3(KMT2D):c.7109G>C (p.Arg2370Pro) rs373234419
NM_003482.3(KMT2D):c.7122C>T (p.Tyr2374=) rs765895211
NM_003482.3(KMT2D):c.7169C>T (p.Pro2390Leu)
NM_003482.3(KMT2D):c.7202G>A (p.Arg2401His) rs375115132
NM_003482.3(KMT2D):c.7490C>T (p.Ala2497Val) rs376603595
NM_003482.3(KMT2D):c.7559G>A (p.Arg2520Gln)
NM_003482.3(KMT2D):c.7649C>A (p.Pro2550His)
NM_003482.3(KMT2D):c.7656T>C (p.Pro2552=) rs774043426
NM_003482.3(KMT2D):c.7967T>C (p.Leu2656Ser)
NM_003482.3(KMT2D):c.7970C>T (p.Ala2657Val) rs200913080
NM_003482.3(KMT2D):c.8047-7dup rs200754433
NM_003482.3(KMT2D):c.8068C>T (p.Leu2690=) rs370846697
NM_003482.3(KMT2D):c.8137G>A (p.Ala2713Thr) rs748969707
NM_003482.3(KMT2D):c.8156G>C (p.Ser2719Thr) rs199913341
NM_003482.3(KMT2D):c.8162G>A (p.Gly2721Asp)
NM_003482.3(KMT2D):c.8230-14C>T rs755201719
NM_003482.3(KMT2D):c.839+3A>G rs1555198242
NM_003482.3(KMT2D):c.8901C>G (p.Pro2967=) rs767675707
NM_003482.3(KMT2D):c.9266T>C (p.Val3089Ala) rs1565787643
NM_003482.3(KMT2D):c.9436G>A (p.Ala3146Thr) rs1555190522
NM_003482.3(KMT2D):c.9709G>A (p.Glu3237Lys) rs886049479
NM_003482.3(KMT2D):c.9822_9824GCA[5] (p.Gln3282dup) rs768814728
NM_003482.3(KMT2D):c.9958G>A (p.Ala3320Thr) rs763426078
NM_003482.3(KMT2D):c.9959C>T (p.Ala3320Val) rs886049478

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