ClinVar Miner

List of variants in gene KMT2D reported as pathogenic by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 63
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.10623_10629delinsCGCAAGTCACG (p.Leu3542fs) rs398123699
NM_003482.4(KMT2D):c.10819C>T (p.Gln3607Ter) rs398123701
NM_003482.4(KMT2D):c.10834C>T (p.Gln3612Ter) rs398123702
NM_003482.4(KMT2D):c.11149C>T (p.Gln3717Ter) rs398123704
NM_003482.4(KMT2D):c.11201_11202del (p.Leu3734fs) rs398123706
NM_003482.4(KMT2D):c.11214del (p.Gln3738fs) rs1555188885
NM_003482.4(KMT2D):c.11692C>T (p.Gln3898Ter) rs398123708
NM_003482.4(KMT2D):c.11713C>T (p.Gln3905Ter) rs886042253
NM_003482.4(KMT2D):c.11939del (p.Gln3980fs) rs794727610
NM_003482.4(KMT2D):c.12406C>T (p.Gln4136Ter) rs398123711
NM_003482.4(KMT2D):c.12430C>T (p.Gln4144Ter) rs398123712
NM_003482.4(KMT2D):c.12481del (p.Glu4161fs) rs794727611
NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter) rs1057517992
NM_003482.4(KMT2D):c.1300dup (p.Leu434fs) rs398123715
NM_003482.4(KMT2D):c.13032del (p.Lys4345fs) rs398123716
NM_003482.4(KMT2D):c.13324del (p.Ala4442fs) rs886043505
NM_003482.4(KMT2D):c.133del (p.Ser45fs) rs727503990
NM_003482.4(KMT2D):c.13606C>T (p.Arg4536Ter) rs587783692
NM_003482.4(KMT2D):c.13780dup (p.Ala4594fs) rs797044740
NM_003482.4(KMT2D):c.14580dup (p.Asp4861Ter) rs398123720
NM_003482.4(KMT2D):c.14885dup (p.Pro4963fs) rs797044744
NM_003482.4(KMT2D):c.15030dup (p.Glu5011fs) rs398123722
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.4(KMT2D):c.15172del (p.Val5058fs) rs794727689
NM_003482.4(KMT2D):c.15256C>T (p.Arg5086Ter) rs727503979
NM_003482.4(KMT2D):c.15535C>T (p.Arg5179Cys) rs794727688
NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His) rs267607237
NM_003482.4(KMT2D):c.15953_15956del (p.Leu5318fs) rs398123732
NM_003482.4(KMT2D):c.16109del (p.Gly5370fs) rs398123733
NM_003482.4(KMT2D):c.16306_16322delinsC (p.Ala5436fs) rs398123735
NM_003482.4(KMT2D):c.16412+1G>T rs794727752
NM_003482.4(KMT2D):c.16438_16441del (p.Asn5480fs) rs587783703
NM_003482.4(KMT2D):c.177-9_178del rs794727497
NM_003482.4(KMT2D):c.1814_1815del (p.Glu605fs) rs727503989
NM_003482.4(KMT2D):c.1940del (p.Pro647fs) rs770315135
NM_003482.4(KMT2D):c.1966del (p.Leu656fs) rs886042284
NM_003482.4(KMT2D):c.2624_2625delinsAGGCCAAAA (p.Pro875fs) rs1555196720
NM_003482.4(KMT2D):c.2747_2748delinsAGCTGAGCCATCC (p.Pro916fs) rs797044630
NM_003482.4(KMT2D):c.2797+1G>A rs727503988
NM_003482.4(KMT2D):c.3121C>T (p.Gln1041Ter) rs587783711
NM_003482.4(KMT2D):c.4135_4136del (p.Met1379fs) rs398123744
NM_003482.4(KMT2D):c.4168dup (p.Ala1390fs) rs756471180
NM_003482.4(KMT2D):c.4265G>A (p.Trp1422Ter) rs794727143
NM_003482.4(KMT2D):c.4485C>G (p.Tyr1495Ter) rs574622908
NM_003482.4(KMT2D):c.5104C>T (p.Arg1702Ter) rs886043414
NM_003482.4(KMT2D):c.5124_5125del (p.Arg1709fs) rs886043506
NM_003482.4(KMT2D):c.5131A>T (p.Lys1711Ter) rs794727342
NM_003482.4(KMT2D):c.5423del (p.Gly1808fs) rs794727379
NM_003482.4(KMT2D):c.5645-2A>G rs398123750
NM_003482.4(KMT2D):c.5677C>T (p.Gln1893Ter) rs794727420
NM_003482.4(KMT2D):c.5908_5915del (p.Asp1970fs) rs398123751
NM_003482.4(KMT2D):c.5998C>T (p.Gln2000Ter) rs1565798715
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.4(KMT2D):c.7066C>T (p.Gln2356Ter) rs398123757
NM_003482.4(KMT2D):c.7140del (p.Gln2380fs) rs398123758
NM_003482.4(KMT2D):c.7375_7376del (p.Ser2459fs) rs794727548
NM_003482.4(KMT2D):c.7643dup (p.Pro2549fs) rs886043495
NM_003482.4(KMT2D):c.7903C>T (p.Arg2635Ter) rs794727549
NM_003482.4(KMT2D):c.8488C>T (p.Arg2830Ter) rs727503983
NM_003482.4(KMT2D):c.8794_8795del (p.Gln2932fs) rs1565788703
NM_003482.4(KMT2D):c.9041_9042del (p.Leu3014fs) rs886043252
NM_003482.4(KMT2D):c.9265dup (p.Val3089fs) rs1333678798
NM_003482.4(KMT2D):c.9937_9939delinsA (p.Leu3313fs) rs1555190224

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.