ClinVar Miner

List of variants in gene KMT2D reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 68
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HGVS dbSNP
NM_003482.3(KMT2D):c.10623_10629delinsCGCAAGTCACG (p.Leu3542fs) rs398123699
NM_003482.3(KMT2D):c.10819C>T (p.Gln3607Ter) rs398123701
NM_003482.3(KMT2D):c.10834C>T (p.Gln3612Ter) rs398123702
NM_003482.3(KMT2D):c.11149C>T (p.Gln3717Ter) rs398123704
NM_003482.3(KMT2D):c.11201_11202del (p.Leu3734fs) rs398123706
NM_003482.3(KMT2D):c.11214del (p.Gln3738fs) rs1555188885
NM_003482.3(KMT2D):c.11692C>T (p.Gln3898Ter) rs398123708
NM_003482.3(KMT2D):c.11713C>T (p.Gln3905Ter) rs886042253
NM_003482.3(KMT2D):c.11939del (p.Gln3980fs) rs794727610
NM_003482.3(KMT2D):c.12406C>T (p.Gln4136Ter) rs398123711
NM_003482.3(KMT2D):c.12430C>T (p.Gln4144Ter) rs398123712
NM_003482.3(KMT2D):c.12481del (p.Glu4161fs) rs794727611
NM_003482.3(KMT2D):c.12844C>T (p.Arg4282Ter) rs1057517992
NM_003482.3(KMT2D):c.1300dup (p.Leu434fs) rs398123715
NM_003482.3(KMT2D):c.13032del (p.Lys4345fs) rs398123716
NM_003482.3(KMT2D):c.13324del (p.Ala4442fs) rs886043505
NM_003482.3(KMT2D):c.133del (p.Ser45fs) rs727503990
NM_003482.3(KMT2D):c.13606C>T (p.Arg4536Ter) rs587783692
NM_003482.3(KMT2D):c.13780dup (p.Ala4594fs) rs797044740
NM_003482.3(KMT2D):c.14580dup (p.Asp4861Ter) rs398123720
NM_003482.3(KMT2D):c.14885dup (p.Pro4963fs) rs797044744
NM_003482.3(KMT2D):c.15030dup (p.Glu5011fs) rs398123722
NM_003482.3(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.3(KMT2D):c.15172del (p.Val5058fs) rs794727689
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.15536G>A (p.Arg5179His) rs267607237
NM_003482.3(KMT2D):c.15949_15952TATT[1] (p.Leu5318fs) rs398123732
NM_003482.3(KMT2D):c.16109del (p.Gly5370fs) rs398123733
NM_003482.3(KMT2D):c.16306_16322delinsC (p.Ala5436fs) rs398123735
NM_003482.3(KMT2D):c.16412+1G>T rs794727752
NM_003482.3(KMT2D):c.16438_16441del (p.Asn5480fs) rs587783703
NM_003482.3(KMT2D):c.177-12_177-2delGTGTGTCCACA rs794727497
NM_003482.3(KMT2D):c.1812_1813AG[1] (p.Glu605fs) rs727503989
NM_003482.3(KMT2D):c.1940del (p.Pro647fs) rs770315135
NM_003482.3(KMT2D):c.1966del (p.Leu656fs) rs886042284
NM_003482.3(KMT2D):c.2624_2625delinsAGGCCAAAA (p.Pro875fs) rs1555196720
NM_003482.3(KMT2D):c.2747_2748delinsAGCTGAGCCATCC (p.Pro916fs) rs797044630
NM_003482.3(KMT2D):c.2797+1G>A rs727503988
NM_003482.3(KMT2D):c.3121C>T (p.Gln1041Ter) rs587783711
NM_003482.3(KMT2D):c.3532C>T (p.Gln1178Ter) rs398123741
NM_003482.3(KMT2D):c.3582dup (p.Thr1195fs) rs796065328
NM_003482.3(KMT2D):c.3754C>T (p.Arg1252Ter) rs727503987
NM_003482.3(KMT2D):c.3834_3846del (p.Ile1279fs) rs398123743
NM_003482.3(KMT2D):c.4009G>T (p.Glu1337Ter) rs727503986
NM_003482.3(KMT2D):c.4135_4136del (p.Met1379fs) rs398123744
NM_003482.3(KMT2D):c.4168dup (p.Ala1390fs) rs756471180
NM_003482.3(KMT2D):c.4265G>A (p.Trp1422Ter) rs794727143
NM_003482.3(KMT2D):c.4485C>G (p.Tyr1495Ter) rs574622908
NM_003482.3(KMT2D):c.5104C>T (p.Arg1702Ter) rs886043414
NM_003482.3(KMT2D):c.5120_5121AC[2] (p.Arg1709fs) rs886043506
NM_003482.3(KMT2D):c.5131A>T (p.Lys1711Ter) rs794727342
NM_003482.3(KMT2D):c.5423del (p.Gly1808fs) rs794727379
NM_003482.3(KMT2D):c.5645-2A>G rs398123750
NM_003482.3(KMT2D):c.5677C>T (p.Gln1893Ter) rs794727420
NM_003482.3(KMT2D):c.5908_5915del (p.Asp1970fs) rs398123751
NM_003482.3(KMT2D):c.5998C>T (p.Gln2000Ter) rs1565798715
NM_003482.3(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.3(KMT2D):c.7066C>T (p.Gln2356Ter) rs398123757
NM_003482.3(KMT2D):c.7140del (p.Gln2380fs) rs398123758
NM_003482.3(KMT2D):c.7375_7376del (p.Ser2459fs) rs794727548
NM_003482.3(KMT2D):c.7643dup (p.Pro2549fs) rs886043495
NM_003482.3(KMT2D):c.7903C>T (p.Arg2635Ter) rs794727549
NM_003482.3(KMT2D):c.8488C>T (p.Arg2830Ter) rs727503983
NM_003482.3(KMT2D):c.8792_8793CA[1] (p.Gln2932fs) rs1565788703
NM_003482.3(KMT2D):c.9041_9042del (p.Leu3014fs) rs886043252
NM_003482.3(KMT2D):c.9265dup (p.Val3089fs) rs1333678798
NM_003482.3(KMT2D):c.9937_9939delinsA (p.Leu3313fs) rs1555190224

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