Variants in gene KMT2D with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status:		Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status:		Submission 2 (likely pathogenic) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 43

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003482.4(KMT2D):c.10621G>C (p.Ala3541Pro)
NM_003482.4(KMT2D):c.10744C>T (p.Arg3582Trp)	rs1943085639
NM_003482.4(KMT2D):c.10999C>T (p.Gln3667Ter)	rs1555189038
NM_003482.4(KMT2D):c.11290C>T (p.Gln3764Ter)	rs587783682
NM_003482.4(KMT2D):c.11422del (p.Ala3808fs)	rs1555188704
NM_003482.4(KMT2D):c.11692C>T (p.Gln3898Ter)	rs398123708
NM_003482.4(KMT2D):c.11743C>T (p.Gln3915Ter)	rs1555188518
NM_003482.4(KMT2D):c.12268C>T (p.Gln4090Ter)	rs1555188155
NM_003482.4(KMT2D):c.12469C>T (p.Gln4157Ter)	rs1555188080
NM_003482.4(KMT2D):c.12808C>T (p.Gln4270Ter)	rs1555187869
NM_003482.4(KMT2D):c.12896del (p.Gly4299fs)	rs587783686
NM_003482.4(KMT2D):c.13032del (p.Lys4345fs)	rs398123716
NM_003482.4(KMT2D):c.1329_1332del (p.Pro444fs)	rs587783689
NM_003482.4(KMT2D):c.13996_13997del (p.Arg4666fs)	rs587783693
NM_003482.4(KMT2D):c.14075+1G>A	rs1057516039
NM_003482.4(KMT2D):c.14189G>A (p.Trp4730Ter)	rs1555186527
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter)	rs587783695
NM_003482.4(KMT2D):c.15088C>T (p.Arg5030Cys)	rs1555185875
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys)	rs398123724
NM_003482.4(KMT2D):c.15143G>A (p.Arg5048His)	rs886041404
NM_003482.4(KMT2D):c.15157GACCTG[3] (p.5053DL[3])	rs398123725
NM_003482.4(KMT2D):c.15461G>A (p.Arg5154Gln)	rs886043497
NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His)	rs267607237
NM_003482.4(KMT2D):c.16019G>A (p.Arg5340Gln)	rs1565756106
NM_003482.4(KMT2D):c.16342C>T (p.Arg5448Ter)	rs1422752351
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del)	rs587783704
NM_003482.4(KMT2D):c.1967del (p.Leu656fs)	rs772870804
NM_003482.4(KMT2D):c.2263dup (p.Arg755fs)	rs1555196984
NM_003482.4(KMT2D):c.4135_4136del (p.Met1379fs)	rs398123744
NM_003482.4(KMT2D):c.4395dup (p.Lys1466fs)	rs1555195118
NM_003482.4(KMT2D):c.5124_5125del (p.Arg1709fs)	rs886043506
NM_003482.4(KMT2D):c.5467G>T (p.Gly1823Ter)	rs1555193912
NM_003482.4(KMT2D):c.5627_5630del (p.Asp1876fs)	rs1555193738
NM_003482.4(KMT2D):c.6114G>A (p.Trp2038Ter)	rs1592138822
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs)	rs398123753
NM_003482.4(KMT2D):c.6992del (p.Leu2331fs)	rs1555192437
NM_003482.4(KMT2D):c.7481dup (p.Ala2496fs)	rs35584294
NM_003482.4(KMT2D):c.8053C>T (p.Arg2685Ter)	rs587783727
NM_003482.4(KMT2D):c.8059C>T (p.Arg2687Ter)	rs1555191598
NM_003482.4(KMT2D):c.8171_8175del (p.Pro2724fs)	rs587783728
NM_003482.4(KMT2D):c.8401C>T (p.Arg2801Ter)	rs1555191203
NM_003482.4(KMT2D):c.8743C>T (p.Arg2915Ter)	rs587783729
NM_003482.4(KMT2D):c.9961C>T (p.Arg3321Ter)	rs793888512

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.