ClinVar Miner

List of variants in gene KMT2D reported as pathogenic by GeneDx

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Total variants: 60
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HGVS dbSNP
NM_003482.3(KMT2D):c.10367_10368CT[1] (p.Leu3457fs) rs1555189455
NM_003482.3(KMT2D):c.1143del (p.Thr382fs) rs1064796125
NM_003482.3(KMT2D):c.11519dup (p.Ala3841fs) rs1555188651
NM_003482.3(KMT2D):c.11749C>T (p.Gln3917Ter) rs1555188515
NM_003482.3(KMT2D):c.12466C>T (p.Gln4156Ter) rs1131691768
NM_003482.3(KMT2D):c.1259-2A>G rs1057520573
NM_003482.3(KMT2D):c.12667C>T (p.Gln4223Ter) rs1555187956
NM_003482.3(KMT2D):c.12730C>T (p.Gln4244Ter) rs1555187899
NM_003482.3(KMT2D):c.12778C>T (p.Gln4260Ter) rs1565773662
NM_003482.3(KMT2D):c.12844C>T (p.Arg4282Ter) rs1057517992
NM_003482.3(KMT2D):c.1300del (p.Pro433_Leu434insTer) rs398123715
NM_003482.3(KMT2D):c.13652_13660del (p.Leu4551_Gln4554delinsTer) rs1064796300
NM_003482.3(KMT2D):c.13999+1G>A rs886041779
NM_003482.3(KMT2D):c.14194C>T (p.Gln4732Ter) rs1555186520
NM_003482.3(KMT2D):c.14713C>T (p.Gln4905Ter) rs1555186053
NM_003482.3(KMT2D):c.15079C>T (p.Arg5027Ter) rs797045659
NM_003482.3(KMT2D):c.15143G>A (p.Arg5048His) rs886041404
NM_003482.3(KMT2D):c.15256C>T (p.Arg5086Ter) rs727503979
NM_003482.3(KMT2D):c.15535C>T (p.Arg5179Cys) rs794727688
NM_003482.3(KMT2D):c.15708_15717delinsTA (p.Gly5237fs) rs886041660
NM_003482.3(KMT2D):c.16018C>T (p.Arg5340Ter) rs1565756115
NM_003482.3(KMT2D):c.16184G>A (p.Trp5395Ter) rs886041558
NM_003482.3(KMT2D):c.1634del (p.Leu545fs) rs886039399
NM_003482.3(KMT2D):c.16469_16472del (p.Lys5490fs) rs886041499
NM_003482.3(KMT2D):c.16501C>T (p.Arg5501Ter) rs886041398
NM_003482.3(KMT2D):c.16522-1G>A rs1057520667
NM_003482.3(KMT2D):c.1940dup (p.Pro648fs) rs770315135
NM_003482.3(KMT2D):c.2141C>A (p.Ser714Ter) rs747636808
NM_003482.3(KMT2D):c.2164del (p.Glu722fs) rs1064796275
NM_003482.3(KMT2D):c.2317C>T (p.Gln773Ter) rs758555274
NM_003482.3(KMT2D):c.2713del (p.Glu905fs) rs1064796995
NM_003482.3(KMT2D):c.303dup (p.Ser102fs) rs797045661
NM_003482.3(KMT2D):c.3109_3110del (p.Ser1037fs) rs1555196415
NM_003482.3(KMT2D):c.3730del (p.Val1244fs) rs1064794007
NM_003482.3(KMT2D):c.3900_3906+1delinsGAAACAGT rs1555195933
NM_003482.3(KMT2D):c.401-2A>T rs1555198655
NM_003482.3(KMT2D):c.401-3A>G rs886041408
NM_003482.3(KMT2D):c.4148G>A (p.Cys1383Tyr) rs1064794026
NM_003482.3(KMT2D):c.4271G>C (p.Cys1424Ser) rs1057520740
NM_003482.3(KMT2D):c.4693+1G>T rs886041406
NM_003482.3(KMT2D):c.5139del (p.Pro1714fs) rs886041627
NM_003482.3(KMT2D):c.5278_5279del (p.Lys1760fs) rs1064796043
NM_003482.3(KMT2D):c.5319+1G>T rs1057520722
NM_003482.3(KMT2D):c.5467+5_5467+8delGTTA rs1064793884
NM_003482.3(KMT2D):c.5707C>T (p.Arg1903Ter) rs886041405
NM_003482.3(KMT2D):c.6172del (p.Ala2058fs) rs797045669
NM_003482.3(KMT2D):c.6295C>T (p.Arg2099Ter) rs1452715535
NM_003482.3(KMT2D):c.6664C>T (p.Gln2222Ter) rs1555192676
NM_003482.3(KMT2D):c.709del (p.Glu237fs) rs1064793649
NM_003482.3(KMT2D):c.7325del (p.Pro2442fs) rs1555192192
NM_003482.3(KMT2D):c.7411C>T (p.Arg2471Ter) rs1057518571
NM_003482.3(KMT2D):c.8059C>T (p.Arg2687Ter) rs1555191598
NM_003482.3(KMT2D):c.8311C>T (p.Arg2771Ter) rs1251778848
NM_003482.3(KMT2D):c.8366+1G>A rs1057518149
NM_003482.3(KMT2D):c.8401C>T (p.Arg2801Ter) rs1555191203
NM_003482.3(KMT2D):c.8650dup (p.Val2884fs) rs886041556
NM_003482.3(KMT2D):c.8696del (p.Gly2899fs) rs1057518186
NM_003482.3(KMT2D):c.9099del (p.Asn3034fs) rs1064796855
NM_003482.3(KMT2D):c.9367del (p.Glu3123fs) rs886041416
NM_003482.3(KMT2D):c.9602dup (p.Ser3202fs) rs1555190375

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