Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His)	SNV Germline	Chr12:49026430	Pathogenic/Likely pathogenic	Kabuki syndrome 1 Condition: not provided Kabuki syndrome	Criteria Provided Multiple Submitters No Conflicts	CA254197	rs_267607237	7 SubmittersRCV000007972 RCV000723481 RCV001043636
NM_003482.4(KMT2D):c.13579A>T (p.Lys4527Ter)	SNV Germline	Chr12:49030985	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided	CA254198	rs_267607240	1 SubmittersRCV000007973
NM_003482.4(KMT2D):c.16360C>T (p.Arg5454Ter)	SNV Germline	Chr12:49022332	Pathogenic	Kabuki syndrome 1 Inborn genetic diseases Condition: not provided Kabuki syndrome	Criteria Provided Multiple Submitters No Conflicts	CA254200	rs_267607239	6 SubmittersRCV000007974 RCV001265824 RCV003147277 RCV003588558
NM_003482.4(KMT2D):c.16391C>T (p.Thr5464Met)	SNV Germline	Chr12:49022301	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA234161	rs_267607238	3 SubmittersRCV000007975 RCV000153405 RCV003588559
NM_001291415.2(KDM6A):c.3873G>A (p.Trp1291Ter)	SNV Germline	ChrX:45089911	Pathogenic	Kabuki syndrome 2	No Assertion Criteria Provided	CA130681	rs_398122929	1 SubmittersRCV000033119
NM_001291415.2(KDM6A):c.1711C>T (p.Arg571Ter)	SNV Germline	ChrX:45063449	Pathogenic	Kabuki syndrome 2 Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA130685	rs_397514628	3 SubmittersRCV000033120 RCV002513317 RCV004719670
NM_003482.4(KMT2D):c.11037A>G (p.Gln3679=)	SNV Germline	Chr12:49033668	Conflicting classifications of pathogenicity	not specified Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA221987	rs_374418866	5 SubmittersRCV000243755 RCV000723490 RCV002055148
NM_003482.4(KMT2D):c.1112+19C>T	SNV Germline	Chr12:49052896	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA221989	rs_398123703	3 SubmittersRCV000080107 RCV001520140
NM_003482.4(KMT2D):c.11149C>T (p.Gln3717Ter)	SNV Germline	Chr12:49033556	Pathogenic	Condition: not provided Kabuki syndrome	Criteria Provided Multiple Submitters No Conflicts	CA221990	rs_398123704	2 SubmittersRCV000177989 RCV001854411
NM_003482.4(KMT2D):c.11150A>C (p.Gln3717Pro)	SNV Germline	Chr12:49033555	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome 1 Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA221992	rs_398123705	4 SubmittersRCV000080110 RCV000763853 RCV001854412 RCV004537340
NM_003482.4(KMT2D):c.11692C>T (p.Gln3898Ter)	SNV Germline	Chr12:49033013	Pathogenic/Likely pathogenic	Kabuki syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA221995	rs_398123708	3 SubmittersRCV000177985 RCV000790792
NM_003482.4(KMT2D):c.1187C>G (p.Pro396Arg)	SNV Germline	Chr12:49052635	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome not specified KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA221999	rs_377452989	5 SubmittersRCV000080116 RCV000330812 RCV001818244 RCV004542763
NM_003482.4(KMT2D):c.12172A>G (p.Met4058Val)	SNV Germline	Chr12:49032533	Conflicting classifications of pathogenicity	not specified Condition: not provided Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications	CA222001	rs_398123710	4 SubmittersRCV000080118 RCV000723524 RCV002498409 RCV003588574
NM_003482.4(KMT2D):c.12579G>A (p.Thr4193=)	SNV Germline	Chr12:49032126	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA222007	rs_398123713	2 SubmittersRCV000080122 RCV002514408
NM_003482.4(KMT2D):c.12712C>T (p.Arg4238Cys)	SNV Germline	Chr12:49031993	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA222009	rs_398123714	4 SubmittersRCV000080123 RCV000347513 RCV004537342
NM_003482.4(KMT2D):c.13587C>A (p.Ser4529Arg)	SNV Germline	Chr12:49030977	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA222013	rs_398123717	2 SubmittersRCV000080129 RCV003753085
NM_003482.4(KMT2D):c.14185C>T (p.Arg4729Trp)	SNV Germline	Chr12:49029127	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA222017	rs_398123719	3 SubmittersRCV000080134 RCV001344020 RCV004758637
NM_003482.4(KMT2D):c.14710C>T (p.Arg4904Ter)	SNV Germline	Chr12:49027256	Pathogenic	Kabuki syndrome 1 Kabuki syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA222020	rs_398123721	8 SubmittersRCV000146172 RCV000688592 RCV002243708
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys)	SNV Germline	Chr12:49026824	Pathogenic	Condition: not provided Kabuki syndrome 1 Kabuki syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA222027	rs_398123724	8 SubmittersRCV000080143 RCV000172955 RCV000638430 RCV002514409
NM_003482.4(KMT2D):c.15273G>A (p.Lys5091=)	SNV Germline	Chr12:49026693	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA222033	rs_398123727	3 SubmittersRCV000080146 RCV002055150
NM_003482.4(KMT2D):c.15641G>A (p.Arg5214His)	SNV Germline	Chr12:49026325	Pathogenic/Likely pathogenic	Condition: not provided Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Multiple Submitters No Conflicts	CA222037	rs_398123729	4 SubmittersRCV000178659 RCV000824832 RCV001854414
NM_003482.4(KMT2D):c.16295G>A (p.Arg5432Gln)	SNV Germline	Chr12:49022633	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome 1	Criteria Provided Conflicting Classifications	CA222044	rs_398123734	2 SubmittersRCV000080154 RCV000659832
NM_003482.4(KMT2D):c.1797G>A (p.Leu599=)	SNV Germline	Chr12:49051886	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA222047	rs_113282510	5 SubmittersRCV000080157 RCV000304834 RCV004537343
NM_003482.4(KMT2D):c.1859C>G (p.Pro620Arg)	SNV Germline	Chr12:49051824	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA222049	rs_369076375	2 SubmittersRCV000080158 RCV002515768
NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln)	SNV Germline	Chr12:49051743	Conflicting classifications of pathogenicity	Kabuki syndrome Kabuki syndrome 1 Condition: not provided KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA222051	rs_200088180	7 SubmittersRCV000339875 RCV000521303 RCV000723520 RCV004542764
NM_003482.4(KMT2D):c.2214C>T (p.Ser738=)	SNV Germline	Chr12:49051469	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA222053	rs_201219613	4 SubmittersRCV000080161 RCV001088525 RCV004542765
NM_003482.4(KMT2D):c.2373G>A (p.Gln791=)	SNV Germline	Chr12:49051310	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA222056	rs_398123737	2 SubmittersRCV000080163 RCV002055151
NM_003482.4(KMT2D):c.2547G>A (p.Ser849=)	SNV Germline	Chr12:49051136	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA222060	rs_398123738	3 SubmittersRCV000080167 RCV002055152 RCV004537344
NM_003482.4(KMT2D):c.2582C>G (p.Ser861Cys)	SNV Germline	Chr12:49051101	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA222062	rs_398123739	2 SubmittersRCV000080168 RCV002515769
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr)	SNV Germline	Chr12:49050596	Conflicting classifications of pathogenicity	not specified Kabuki syndrome Condition: not provided Kabuki syndrome 1 Kabuki syndrome 1 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Inborn genetic diseases KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA160507	rs_143711798	11 SubmittersRCV000121380 RCV000365620 RCV000723541 RCV002055153 RCV003224138 RCV004019552 RCV004537346
NM_003482.4(KMT2D):c.4056G>A (p.Glu1352=)	SNV Germline	Chr12:49048734	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA222073	rs_373063485	2 SubmittersRCV000080178 RCV002055154
NM_003482.4(KMT2D):c.477T>G (p.Gly159=)	SNV Germline	Chr12:49054340	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA222081	rs_398123747	2 SubmittersRCV000080183 RCV000539363
NM_003482.4(KMT2D):c.4986C>T (p.Cys1662=)	SNV Germline	Chr12:49044500	Conflicting classifications of pathogenicity	not specified Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA222083	rs_143063879	7 SubmittersRCV000080184 RCV000723476 RCV001517882 RCV004537348
NM_003482.4(KMT2D):c.5124A>G (p.Thr1708=)	SNV Germline	Chr12:49044264	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA222086	rs_374724784	4 SubmittersRCV000080188 RCV002055155 RCV004542768
NM_003482.4(KMT2D):c.5319+3G>A	SNV Germline	Chr12:49043865	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome Inborn genetic diseases KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA222088	rs_372897046	5 SubmittersRCV000080190 RCV000691833 RCV002514410 RCV004537349
NM_003482.4(KMT2D):c.6264C>T (p.Thr2088=)	SNV Germline	Chr12:49041506	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome not specified KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA222092	rs_370414767	6 SubmittersRCV000080197 RCV001494744 RCV003150943 RCV004542769
NM_003482.4(KMT2D):c.6354C>T (p.Pro2118=)	SNV Germline	Chr12:49041416	Conflicting classifications of pathogenicity	Kabuki syndrome Condition: not provided KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA222096	rs_377392943	7 SubmittersRCV000263883 RCV000723517 RCV004542770
NM_003482.4(KMT2D):c.6435G>A (p.Pro2145=)	SNV Germline	Chr12:49041335	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA222098	rs_374077422	4 SubmittersRCV000712309 RCV001088718 RCV004537350
NM_003482.4(KMT2D):c.6699C>T (p.Thr2233=)	SNV Germline	Chr12:49041071	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA222101	rs_398123754	2 SubmittersRCV000080204 RCV002055156
NM_003482.4(KMT2D):c.6752C>T (p.Ser2251Leu)	SNV Germline	Chr12:49041018	Conflicting classifications of pathogenicity	not specified Kabuki syndrome Kabuki syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA147701	rs_189199944	8 SubmittersRCV000080205 RCV000408005 RCV000659741 RCV000858851
NM_003482.4(KMT2D):c.7035G>A (p.Leu2345=)	SNV Germline	Chr12:49040735	Conflicting classifications of pathogenicity	not specified Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA172434	rs_398123756	5 SubmittersRCV000146228 RCV000723594 RCV001084575 RCV004537351
NM_003482.4(KMT2D):c.756C>T (p.His252=)	SNV Germline	Chr12:49053559	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA222108	rs_398123759	2 SubmittersRCV000080212 RCV002055157
NM_003482.4(KMT2D):c.7839G>A (p.Pro2613=)	SNV Germline	Chr12:49039931	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA222112	rs_370627714	2 SubmittersRCV000080215 RCV002055158
NM_003482.4(KMT2D):c.8288C>T (p.Pro2763Leu)	SNV Germline	Chr12:49039300	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA222116	rs_398123762	4 SubmittersRCV000080222 RCV001399288 RCV004537353
NM_003482.4(KMT2D):c.8774C>T (p.Ala2925Val)	SNV Germline	Chr12:49038582	Conflicting classifications of pathogenicity	not specified Kabuki syndrome Kabuki syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA147715	rs_199547661	11 SubmittersRCV000080223 RCV000264206 RCV000659769 RCV001529421
NM_003482.4(KMT2D):c.2222C>T (p.Pro741Leu)	SNV Germline	Chr12:49051461	Conflicting classifications of pathogenicity	not specified Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA160495	rs_587778453	5 SubmittersRCV000121374 RCV000731418 RCV001484196 RCV004530006
NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu)	SNV Germline	Chr12:49050196	Conflicting classifications of pathogenicity	not specified Kabuki syndrome 1 Kabuki syndrome Condition: not provided KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA160509	rs_201623566	10 SubmittersRCV000121381 RCV000988841 RCV001521913 RCV001594848 RCV004530008
NM_003482.4(KMT2D):c.5129C>T (p.Thr1710Met)	SNV Germline	Chr12:49044259	Conflicting classifications of pathogenicity	not specified Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA160517	rs_587778457	3 SubmittersRCV000121385 RCV002055346 RCV004528828
NM_003482.4(KMT2D):c.5207C>G (p.Pro1736Arg)	SNV Germline	Chr12:49043980	Conflicting classifications of pathogenicity	not specified Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications	CA160519	rs_587778458	3 SubmittersRCV000121386 RCV001838982 RCV001854636
NM_003482.4(KMT2D):c.5504G>T (p.Arg1835Leu)	SNV Germline	Chr12:49043392	Conflicting classifications of pathogenicity	not specified Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA160525	rs_368134008	3 SubmittersRCV000121389 RCV003133136 RCV003753089
NM_003482.4(KMT2D):c.5546G>A (p.Gly1849Glu)	SNV Germline	Chr12:49043174	Conflicting classifications of pathogenicity	not specified Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA160527	rs_587778459	3 SubmittersRCV000121390 RCV002055348 RCV004528829
NM_003482.4(KMT2D):c.305G>A (p.Ser102Asn)	SNV Germline	Chr12:49054623	Conflicting classifications of pathogenicity	not specified Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications	CA160535	rs_368471915	3 SubmittersRCV000121394 RCV000659688 RCV003588576
NM_003482.4(KMT2D):c.6392C>A (p.Thr2131Asn)	SNV Germline	Chr12:49041378	Conflicting classifications of pathogenicity	not specified Kabuki syndrome 1 Kabuki syndrome KMT2D-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA160539	rs_587778463	5 SubmittersRCV000121396 RCV001781462 RCV002055349 RCV004530010 RCV004639140
NM_003482.4(KMT2D):c.6284G>A (p.Arg2095His)	SNV Germline	Chr12:49041486	Conflicting classifications of pathogenicity	not specified Kabuki syndrome 1 Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA160553	rs_374216845	4 SubmittersRCV000121403 RCV000763857 RCV000767217 RCV001854641
NM_003482.4(KMT2D):c.7229G>A (p.Arg2410Gln)	SNV Germline	Chr12:49040541	Conflicting classifications of pathogenicity	not specified Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA160559	rs_587778466	5 SubmittersRCV000121406 RCV000440700 RCV002515875 RCV004528831
NM_003482.4(KMT2D):c.7705G>A (p.Gly2569Ser)	SNV Germline	Chr12:49040065	Conflicting classifications of pathogenicity	not specified Kabuki syndrome 1 Kabuki syndrome Condition: not provided Kabuki syndrome 1 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	Criteria Provided Conflicting Classifications	CA160561	rs_201507971	6 SubmittersRCV000121407 RCV000659757 RCV000945876 RCV001657764 RCV003224159
NM_003482.4(KMT2D):c.8006T>G (p.Met2669Arg)	SNV Germline	Chr12:49039764	Conflicting classifications of pathogenicity	not specified Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA160571	rs_372520829	4 SubmittersRCV000121412 RCV001289094 RCV001498880
NM_003482.4(KMT2D):c.9662C>A (p.Thr3221Asn)	SNV Germline	Chr12:49037694	Conflicting classifications of pathogenicity	not specified Condition: not provided Kabuki syndrome Inborn genetic diseases KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA160581	rs_200601717	6 SubmittersRCV000121417 RCV000224122 RCV001087749 RCV002515876 RCV004530011
NM_003482.4(KMT2D):c.9482T>C (p.Met3161Thr)	SNV Germline	Chr12:49037874	Conflicting classifications of pathogenicity	not specified Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA160585	rs_199831827	4 SubmittersRCV000121419 RCV000726082 RCV001854643
NM_003482.4(KMT2D):c.10966C>T (p.Arg3656Cys)	SNV Germline	Chr12:49033739	Conflicting classifications of pathogenicity	not specified Condition: not provided Kabuki syndrome Kabuki syndrome 1	Criteria Provided Conflicting Classifications	CA160589	rs_201283589	6 SubmittersRCV000121421 RCV000726604 RCV001501324 RCV004584608
NM_003482.4(KMT2D):c.10993C>G (p.Pro3665Ala)	SNV Germline	Chr12:49033712	Conflicting classifications of pathogenicity	not specified Kabuki syndrome 1 Kabuki syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA160591	rs_112170602	8 SubmittersRCV000121422 RCV000146150 RCV000377054 RCV000513704
NM_003482.4(KMT2D):c.13009C>G (p.Pro4337Ala)	SNV Germline	Chr12:49031696	Conflicting classifications of pathogenicity	not specified Kabuki syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA160597	rs_587778475	4 SubmittersRCV000121425 RCV001498479 RCV001818292
NM_003482.4(KMT2D):c.13582G>A (p.Ala4528Thr)	SNV Germline	Chr12:49030982	Conflicting classifications of pathogenicity	not specified Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA160615	rs_587778480	3 SubmittersRCV000121434 RCV001854646 RCV004530012
NM_003482.4(KMT2D):c.14080G>C (p.Glu4694Gln)	SNV Germline	Chr12:49029232	Conflicting classifications of pathogenicity	not specified Kabuki syndrome 1 Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA160623	rs_587778483	5 SubmittersRCV000121438 RCV000659812 RCV000872102 RCV001514713
NM_003482.4(KMT2D):c.15671G>A (p.Arg5224His)	SNV Germline	Chr12:49026295	Conflicting classifications of pathogenicity	not specified Kabuki syndrome 1 Kabuki syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA160631	rs_3782356	5 SubmittersRCV000121442 RCV000146178 RCV000285985 RCV000514629
NM_003482.4(KMT2D):c.15797G>A (p.Arg5266His)	SNV Germline	Chr12:49024934	Conflicting classifications of pathogenicity	not specified Kabuki syndrome 1 Kabuki syndrome Condition: not provided Inborn genetic diseases KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA160633	rs_201481646	10 SubmittersRCV000121443 RCV000659829 RCV000865112 RCV001705895 RCV002515877 RCV004542884
NM_003482.4(KMT2D):c.553C>T (p.Arg185Cys)	SNV Germline	Chr12:49054098	Conflicting classifications of pathogenicity	not specified Kabuki syndrome	Criteria Provided Conflicting Classifications	CA160635	rs_201796530	3 SubmittersRCV000121444 RCV001496616
NM_003482.4(KMT2D):c.16413G>T (p.Arg5471Ser)	SNV Germline	Chr12:49022151	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA271613	rs_587783702	1 SubmittersRCV000146184
NM_003482.4(KMT2D):c.16412+13G>A	SNV Germline	Chr12:49022267	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications	CA271612	rs_587783701	2 SubmittersRCV000146183 RCV003753092
NM_003482.4(KMT2D):c.16411A>T (p.Arg5471Trp)	SNV Germline	Chr12:49022281	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA271610	rs_587783700	1 SubmittersRCV000146182
NM_003482.4(KMT2D):c.15943C>T (p.Gln5315Ter)	SNV Germline	Chr12:49024687	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA271608	rs_587783699	1 SubmittersRCV000146181
NM_003482.4(KMT2D):c.15844C>T (p.Arg5282Ter)	SNV Germline	Chr12:49024887	Pathogenic	Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Multiple Submitters No Conflicts	CA271606	rs_587783698	3 SubmittersRCV000146180 RCV001849983
NM_003482.4(KMT2D):c.15791G>A (p.Trp5264Ter)	SNV Germline/somatic	Chr12:49024940	Pathogenic	Kabuki syndrome 1 Neoplasm	Criteria Provided Single Submitter	CA271604	rs_587783697	2 SubmittersRCV000146179 RCV004668806
NM_003482.4(KMT2D):c.15195G>A (p.Trp5065Ter)	SNV Germline	Chr12:49026771	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA271598	rs_587783696	1 SubmittersRCV000146175
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter)	SNV Germline	Chr12:49026905	Pathogenic/Likely pathogenic	Kabuki syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA234164	rs_587783695	9 SubmittersRCV000146174 RCV000790679
NM_003482.4(KMT2D):c.14840C>A (p.Pro4947His)	SNV Germline	Chr12:49027126	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA271596	rs_587783694	3 SubmittersRCV000146173 RCV001849982 RCV004758648
NM_003482.4(KMT2D):c.13606C>T (p.Arg4536Ter)	SNV Germline	Chr12:49030958	Pathogenic	Kabuki syndrome 1 Kabuki syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA271593	rs_587783692	5 SubmittersRCV000146170 RCV000549081 RCV000724642
NM_003482.4(KMT2D):c.13450C>T (p.Arg4484Ter)	SNV Germline	Chr12:49031255	Pathogenic	Kabuki syndrome 1 Inborn genetic diseases Kabuki syndrome	Criteria Provided Multiple Submitters No Conflicts	CA271590	rs_587783690	4 SubmittersRCV000146168 RCV000622817 RCV003753091
NM_003482.4(KMT2D):c.12962C>A (p.Ser4321Ter)	SNV Germline	Chr12:49031743	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA271585	rs_587783688	1 SubmittersRCV000146164
NM_003482.4(KMT2D):c.12592C>T (p.Arg4198Ter)	SNV Germline	Chr12:49032113	Pathogenic	Kabuki syndrome 1 Inborn genetic diseases Kabuki syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA271579	rs_587783685	7 SubmittersRCV000146159 RCV000624920 RCV000707588 RCV001548390
NM_003482.4(KMT2D):c.12270G>A (p.Gln4090=)	SNV Germline	Chr12:49032435	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA271577	rs_370665309	3 SubmittersRCV000146158 RCV002055894 RCV004532653
NM_003482.4(KMT2D):c.11886A>G (p.Gln3962=)	SNV Germline	Chr12:49032819	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome Condition: not provided KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA271575	rs_180784366	5 SubmittersRCV000146157 RCV000951954 RCV001707534 RCV004544340
NM_003482.4(KMT2D):c.11290C>T (p.Gln3764Ter)	SNV Germline	Chr12:49033415	Pathogenic/Likely pathogenic	Kabuki syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA271570	rs_587783682	3 SubmittersRCV000146153 RCV004719714
NM_003482.4(KMT2D):c.11263C>T (p.Gln3755Ter)	SNV Germline	Chr12:49033442	Pathogenic	Kabuki syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA271568	rs_587783681	2 SubmittersRCV000146152
NM_003482.4(KMT2D):c.11043G>A (p.Gln3681=)	SNV Germline	Chr12:49033662	Conflicting classifications of pathogenicity	Kabuki syndrome Kabuki syndrome 1 not specified	Criteria Provided Conflicting Classifications	CA245010	rs_371444130	4 SubmittersRCV002055893 RCV000146151 RCV000177997
NM_003482.4(KMT2D):c.10444C>T (p.Arg3482Trp)	SNV Germline	Chr12:49034473	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA271566	rs_201127814	4 SubmittersRCV000146149 RCV002225451 RCV002055892 RCV004544339
NM_003482.4(KMT2D):c.10312G>A (p.Val3438Met)	SNV Germline	Chr12:49034855	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications	CA271564	rs_35087111	2 SubmittersRCV000146148 RCV001857511
NM_003482.4(KMT2D):c.9491G>A (p.Arg3164Gln)	SNV Germline	Chr12:49037865	Conflicting classifications of pathogenicity	not specified Kabuki syndrome	Criteria Provided Conflicting Classifications	CA172442	rs_587783730	2 SubmittersRCV000146242 RCV002515964
NM_003482.4(KMT2D):c.8743C>T (p.Arg2915Ter)	SNV Germline	Chr12:49038613	Pathogenic/Likely pathogenic	Kabuki syndrome 1 Kabuki syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA271664	rs_587783729	6 SubmittersRCV000146240 RCV001857516 RCV004821984
NM_003482.4(KMT2D):c.8053C>T (p.Arg2685Ter)	SNV Germline	Chr12:49039611	Pathogenic/Likely pathogenic	Kabuki syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA271659	rs_587783727	4 SubmittersRCV000146236 RCV004589639
NM_003482.4(KMT2D):c.7198C>G (p.Pro2400Ala)	SNV Germline	Chr12:49040572	Conflicting classifications of pathogenicity	Kabuki syndrome 1 not specified Kabuki syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA271657	rs_35111108	4 SubmittersRCV000146231 RCV000516606 RCV001501756 RCV001657838
NM_003482.4(KMT2D):c.7170G>A (p.Pro2390=)	SNV Germline	Chr12:49040600	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications	CA271655	rs_3741625	2 SubmittersRCV000146229 RCV001857515
NM_003482.4(KMT2D):c.6844C>T (p.Arg2282Trp)	SNV Germline	Chr12:49040926	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA271653	rs_587783726	3 SubmittersRCV000146227 RCV001338541 RCV004691765
NM_003482.4(KMT2D):c.6807C>T (p.Ser2269=)	SNV Germline	Chr12:49040963	Conflicting classifications of pathogenicity	not specified Condition: not provided Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications	CA180144	rs_73302197	6 SubmittersRCV000153415 RCV001711587 RCV000146226 RCV000343763
NM_003482.4(KMT2D):c.6733C>G (p.Leu2245Val)	SNV Germline	Chr12:49041037	Conflicting classifications of pathogenicity	not specified Kabuki syndrome Kabuki syndrome 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA202514	rs_201931833	8 SubmittersRCV000177545 RCV000289783 RCV000659740 RCV001705946 RCV004984680
NM_003482.4(KMT2D):c.6640G>A (p.Ala2214Thr)	SNV Germline	Chr12:49041130	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA271650	rs_587783724	4 SubmittersRCV000146223 RCV001857514 RCV004758649
NM_003482.4(KMT2D):c.6126C>A (p.Cys2042Ter)	SNV Germline	Chr12:49041974	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA271648	rs_556669370	1 SubmittersRCV000146220
NM_003482.4(KMT2D):c.4421G>A (p.Cys1474Tyr)	SNV Germline	Chr12:49046422	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA271644	rs_587783718	4 SubmittersRCV000146214 RCV000276560 RCV001857513 RCV004730884
NM_003482.4(KMT2D):c.4418+5G>A	SNV Germline	Chr12:49046604	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA271643	rs_587783717	2 SubmittersRCV000146213 RCV004019769
NM_003482.4(KMT2D):c.4123C>T (p.Leu1375=)	SNV Germline	Chr12:49048667	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA271636	rs_1368572	3 SubmittersRCV000146208 RCV001449194 RCV004532656
NM_003482.4(KMT2D):c.3553C>T (p.Gln1185Ter)	SNV Germline	Chr12:49050035	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA271628	rs_587783712	1 SubmittersRCV000146201
NM_003482.4(KMT2D):c.3121C>T (p.Gln1041Ter)	SNV Germline	Chr12:49050467	Pathogenic	Kabuki syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA271626	rs_587783711	2 SubmittersRCV000146200 RCV000724644
NM_003482.4(KMT2D):c.2506C>A (p.Gln836Lys)	SNV Germline	Chr12:49051177	Conflicting classifications of pathogenicity	not specified Kabuki syndrome 1 Kabuki syndrome Condition: not provided Kabuki syndrome 1 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	Criteria Provided Conflicting Classifications	CA172422	rs_200192746	6 SubmittersRCV000146196 RCV000659703 RCV001404137 RCV001709495 RCV003224166
NM_003482.4(KMT2D):c.2232A>C (p.Ser744=)	SNV Germline	Chr12:49051451	Conflicting classifications of pathogenicity	not specified Kabuki syndrome Condition: not provided KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA172419	rs_200155807	5 SubmittersRCV000146193 RCV002055897 RCV000725951 RCV004544341
NM_003482.4(KMT2D):c.1813G>T (p.Glu605Ter)	SNV Germline	Chr12:49051870	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA271618	rs_587783705	1 SubmittersRCV000146187
NM_003482.4(KMT2D):c.400+1G>C	SNV Germline	Chr12:49054527	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA271633	rs_587783714	1 SubmittersRCV000146205
NM_003482.4(KMT2D):c.256G>T (p.Glu86Ter)	SNV Germline	Chr12:49054672	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA271622	rs_587783708	1 SubmittersRCV000146197
NM_001291415.2(KDM6A):c.4208G>A (p.Arg1403Gln)	SNV Germline	ChrX:45110125	Conflicting classifications of pathogenicity	Kabuki syndrome 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA172363	rs_370765411	4 SubmittersRCV000146127 RCV000176888
NM_003482.4(KMT2D):c.7109G>A (p.Arg2370His)	SNV Germline	Chr12:49040661	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome 1 Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA234176	rs_373234419	4 SubmittersRCV000153414 RCV000763855 RCV002056034 RCV004758655
NM_003482.4(KMT2D):c.15256C>T (p.Arg5086Ter)	SNV Germline	Chr12:49026710	Pathogenic	Condition: not provided Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Multiple Submitters No Conflicts	CA234162	rs_727503979	8 SubmittersRCV000153407 RCV000178657 RCV003588580
NM_003482.4(KMT2D):c.3754C>T (p.Arg1252Ter)	SNV Germline	Chr12:49049834	Pathogenic	Kabuki syndrome 1 Condition: not provided Kabuki syndrome	Criteria Provided Multiple Submitters No Conflicts	CA234183	rs_727503987	6 SubmittersRCV000174080 RCV000790774 RCV001850095
NM_003482.4(KMT2D):c.8488C>T (p.Arg2830Ter)	SNV Germline	Chr12:49038868	Pathogenic	Condition: not provided Kabuki syndrome Kabuki syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA234172	rs_727503983	5 SubmittersRCV000177775 RCV001045940 RCV001254175
NM_003482.4(KMT2D):c.1378C>A (p.Pro460Thr)	SNV Germline	Chr12:49052305	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA234189	rs_201089405	3 SubmittersRCV000153423 RCV001405909 RCV004544397
NM_003482.4(KMT2D):c.13797G>A (p.Ala4599=)	SNV Germline	Chr12:49030643	Conflicting classifications of pathogenicity	Condition: not provided KMT2D-related disorder Kabuki syndrome	Criteria Provided Conflicting Classifications	CA234166	rs_727503980	3 SubmittersRCV000153409 RCV004544394 RCV003753096
NM_003482.4(KMT2D):c.6456C>T (p.Gly2152=)	SNV Germline	Chr12:49041314	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA234178	rs_727503985	3 SubmittersRCV000153416 RCV001078593 RCV004532726
NM_003482.4(KMT2D):c.3906+20C>T	SNV Germline	Chr12:49049662	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA234182	rs_375504464	3 SubmittersRCV000153418 RCV002056035
NM_003482.4(KMT2D):c.1488G>A (p.Pro496=)	SNV Germline	Chr12:49052195	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA234187	rs_534236560	3 SubmittersRCV000153422 RCV002514956 RCV004544396
NM_003482.4(KMT2D):c.16413-1G>C	SNV Unknown	Chr12:49022152	Likely pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided	CA274868	rs_793888515	1 SubmittersRCV000172953
NM_003482.4(KMT2D):c.14659G>T (p.Glu4887Ter)	SNV Unknown	Chr12:49027307	Likely pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided	CA274864	rs_793888513	1 SubmittersRCV000172949
NM_003482.4(KMT2D):c.12688C>T (p.Gln4230Ter)	SNV Germline	Chr12:49032017	Likely pathogenic	Kabuki syndrome 1 Condition: not provided	Criteria Provided Single Submitter	CA274860	rs_793888511	2 SubmittersRCV000172947 RCV004719722
NM_003482.4(KMT2D):c.9961C>T (p.Arg3321Ter)	SNV Germline	Chr12:49037395	Pathogenic	Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Single Submitter	CA274862	rs_793888512	3 SubmittersRCV000172948 RCV001850286
NM_001291415.2(KDM6A):c.752G>A (p.Trp251Ter)	SNV Unknown	ChrX:45053832	Likely pathogenic	Kabuki syndrome 2	No Assertion Criteria Provided	CA200205	rs_793888509	1 SubmittersRCV000172945
NM_001291415.2(KDM6A):c.3892+2T>C	SNV Unknown	ChrX:45089932	Likely pathogenic	Kabuki syndrome 2	No Assertion Criteria Provided	CA200209	rs_793888510	1 SubmittersRCV000172946
NM_003482.4(KMT2D):c.11395C>T (p.Gln3799Ter)	SNV Germline	Chr12:49033310	Likely pathogenic	Condition: not provided Kabuki syndrome 1	Criteria Provided Single Submitter	CA235884	rs_786205478	2 SubmittersRCV000171213 RCV002293240
NM_003482.4(KMT2D):c.2368C>T (p.Pro790Ser)	SNV Germline	Chr12:49051315	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome Kabuki syndrome 1	Criteria Provided Conflicting Classifications	CA239236	rs_376911077	4 SubmittersRCV000173778 RCV002516599 RCV002492730
NM_003482.4(KMT2D):c.3889C>T (p.Arg1297Cys)	SNV Germline	Chr12:49049699	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome Kabuki syndrome 1 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA239552	rs_746084513	4 SubmittersRCV000174077 RCV001316081 RCV003224188 RCV004758660
NM_003482.4(KMT2D):c.4642G>A (p.Asp1548Asn)	SNV Germline	Chr12:49046116	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA240880	rs_774736686	3 SubmittersRCV000175174 RCV001852141
NM_003482.4(KMT2D):c.5677C>T (p.Gln1893Ter)	SNV Germline	Chr12:49042846	Pathogenic	Condition: not provided Kabuki syndrome	Criteria Provided Multiple Submitters No Conflicts	CA275138	rs_794727420	2 SubmittersRCV000176652 RCV001201615
NM_003482.4(KMT2D):c.6204G>A (p.Arg2068=)	SNV Germline	Chr12:49041685	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA243643	rs_532098737	3 SubmittersRCV000177462 RCV002054091 RCV004539651
NM_003482.4(KMT2D):c.6235-6C>G	SNV Germline	Chr12:49041541	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome not specified Kabuki syndrome 1 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA243748	rs_373858319	6 SubmittersRCV000177539 RCV001078907 RCV001818429 RCV003224193 RCV004537433
NM_003482.4(KMT2D):c.6649C>T (p.Arg2217Cys)	SNV Germline	Chr12:49041121	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA243749	rs_770789888	2 SubmittersRCV000177540 RCV001362360
NM_003482.4(KMT2D):c.7201C>T (p.Arg2401Cys)	SNV Germline	Chr12:49040569	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA243751	rs_748969699	3 SubmittersRCV000177541 RCV002516739
NM_003482.4(KMT2D):c.6739C>T (p.Pro2247Ser)	SNV Germline	Chr12:49041031	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA243753	rs_794727547	3 SubmittersRCV000177542 RCV003588589 RCV004984721
NM_003482.4(KMT2D):c.6345C>T (p.Ser2115=)	SNV Germline	Chr12:49041425	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA243755	rs_368856357	3 SubmittersRCV000177543 RCV001433557 RCV004537434
NM_003482.4(KMT2D):c.7301C>A (p.Ala2434Asp)	SNV Germline	Chr12:49040469	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome Kabuki syndrome 1 KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA243759	rs_201114196	5 SubmittersRCV000177546 RCV000358195 RCV000659750 RCV004539652
NM_003482.4(KMT2D):c.7046C>T (p.Pro2349Leu)	SNV Germline	Chr12:49040724	Conflicting classifications of pathogenicity	not specified Kabuki syndrome 1 Kabuki syndrome Condition: not provided KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA202516	rs_201581582	5 SubmittersRCV000177547 RCV000659746 RCV001522735 RCV001618333 RCV004537435
NM_003482.4(KMT2D):c.7903C>T (p.Arg2635Ter)	SNV Germline	Chr12:49039867	Pathogenic	Condition: not provided Kabuki syndrome	Criteria Provided Multiple Submitters No Conflicts	CA275202	rs_794727549	3 SubmittersRCV000177549 RCV002517716
NM_003482.4(KMT2D):c.8924G>A (p.Arg2975His)	SNV Germline	Chr12:49038432	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA244676	rs_770885860	2 SubmittersRCV000177773 RCV002516752
NM_003482.4(KMT2D):c.9502A>G (p.Met3168Val)	SNV Germline	Chr12:49037854	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA244678	rs_749463020	2 SubmittersRCV000177774 RCV001852199
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=)	SNV Germline	Chr12:49034934	Conflicting classifications of pathogenicity	not specified Kabuki syndrome Kabuki syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA202646	rs_148688181	9 SubmittersRCV000177846 RCV000338854 RCV000659777 RCV001711466
NM_001291415.2(KDM6A):c.384+10C>T	SNV Germline	ChrX:44974725	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome 2	Criteria Provided Conflicting Classifications	CA245402	rs_767711383	2 SubmittersRCV000178330 RCV002517728
NM_003482.4(KMT2D):c.13588G>A (p.Asp4530Asn)	SNV Germline	Chr12:49030976	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA245523	rs_768143170	4 SubmittersRCV000178430 RCV002054116 RCV004528949
NM_003482.4(KMT2D):c.15535C>T (p.Arg5179Cys)	SNV Germline	Chr12:49026431	Pathogenic	Condition: not provided Inborn genetic diseases Kabuki syndrome	Criteria Provided Multiple Submitters No Conflicts	CA245837	rs_794727688	4 SubmittersRCV000178651 RCV000623497 RCV001852217
NM_003482.4(KMT2D):c.15230T>C (p.Leu5077Pro)	SNV Germline	Chr12:49026736	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA245839	rs_398123726	2 SubmittersRCV000178654 RCV000702652
NM_003482.4(KMT2D):c.878C>T (p.Thr293Met)	SNV Germline	Chr12:49053283	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA247172	rs_794727860	3 SubmittersRCV000179857 RCV002516802 RCV004639164
NM_003482.4(KMT2D):c.1149C>T (p.Asp383=)	SNV Germline	Chr12:49052673	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome not specified KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA248085	rs_201709328	6 SubmittersRCV000724299 RCV001442610 RCV001818446 RCV004537513
NM_003482.4(KMT2D):c.4237-2A>C	SNV Germline	Chr12:49046792	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided	CA275965	rs_797045001	1 SubmittersRCV000190497
NM_003482.4(KMT2D):c.15079C>T (p.Arg5027Ter)	SNV Germline	Chr12:49026887	Pathogenic	Kabuki syndrome 1 Condition: not provided Inborn genetic diseases Kabuki syndrome	Criteria Provided Multiple Submitters No Conflicts	CA277305	rs_797045659	8 SubmittersRCV000194362 RCV000484393 RCV001266906 RCV001382673
NM_003482.4(KMT2D):c.11845C>T (p.Gln3949Ter)	SNV Germline	Chr12:49032860	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA277249	rs_797045658	1 SubmittersRCV000194043
NM_003482.4(KMT2D):c.11641A>G (p.Met3881Val)	SNV Germline	Chr12:49033064	Conflicting classifications of pathogenicity	not specified Kabuki syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA206526	rs_797045657	4 SubmittersRCV000193203 RCV001852558 RCV003389759
NM_003482.4(KMT2D):c.4182C>T (p.Leu1394=)	SNV Germline	Chr12:49048019	Conflicting classifications of pathogenicity	not specified Kabuki syndrome	Criteria Provided Conflicting Classifications	CA209219	rs_797045665	2 SubmittersRCV000194801 RCV003753108
NM_003482.4(KMT2D):c.2533C>T (p.Arg845Trp)	SNV Germline	Chr12:49051150	Conflicting classifications of pathogenicity	not specified Kabuki syndrome Inborn genetic diseases KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA208189	rs_746841307	4 SubmittersRCV000194184 RCV000697204 RCV002517944 RCV004758667
NM_003482.4(KMT2D):c.1490C>T (p.Pro497Leu)	SNV Germline	Chr12:49052193	Conflicting classifications of pathogenicity	not specified Kabuki syndrome Condition: not provided KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA206392	rs_371421459	6 SubmittersRCV000193123 RCV001444865 RCV001576341 RCV004530128
NM_001291415.2(KDM6A):c.3791A>G (p.Gln1264Arg)	SNV Germline	ChrX:45089829	Likely pathogenic	Kabuki syndrome 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA206562	rs_797045644	2 SubmittersRCV000193227 RCV000493253
NM_003482.4(KMT2D):c.11275C>T (p.Gln3759Ter)	SNV Germline	Chr12:49033430	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA279042	rs_863224890	1 SubmittersRCV000200354
NM_001291415.2(KDM6A):c.3991C>T (p.Arg1331Ter)	SNV Germline	ChrX:45090821	Pathogenic/Likely pathogenic	Kabuki syndrome 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278963	rs_863224886	4 SubmittersRCV000197668 RCV002262794
NM_014797.3(ZBTB24):c.146G>A (p.Arg49Gln)	SNV Germline	Chr6:109481881	Conflicting classifications of pathogenicity	not specified Kabuki syndrome 1 Immunodeficiency-centromeric instability-facial anomalies syndrome 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA3954392	rs_147441359	6 SubmittersRCV000238885 RCV000578131 RCV000649294 RCV002292496
NM_003482.4(KMT2D):c.11770C>T (p.Gln3924Ter)	SNV Germline	Chr12:49032935	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA10602722	rs_886041106	1 SubmittersRCV000258937
NM_003482.4(KMT2D):c.16501C>T (p.Arg5501Ter)	SNV Germline	Chr12:49022063	Pathogenic	Kabuki syndrome 1 Condition: not provided Kabuki syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10603301	rs_886041398	6 SubmittersRCV000578361 RCV000283712 RCV000557296
NM_003482.4(KMT2D):c.15143G>A (p.Arg5048His)	SNV Germline	Chr12:49026823	Pathogenic/Likely pathogenic	Condition: not provided Kabuki syndrome 1 Kabuki syndrome KMT2D-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10603305	rs_886041404	9 SubmittersRCV000376655 RCV000505249 RCV001220983 RCV004535247
NM_003482.4(KMT2D):c.5707C>T (p.Arg1903Ter)	SNV Germline	Chr12:49042816	Pathogenic	Condition: not provided Kabuki syndrome Kabuki syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10603310	rs_886041405	4 SubmittersRCV000284743 RCV001230659 RCV001249645
NM_003482.4(KMT2D):c.192G>A (p.Arg64=)	SNV Germline	Chr12:49054736	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6548769	rs_375169999	2 SubmittersRCV000300231 RCV002059077
NM_003482.4(KMT2D):c.7934G>A (p.Arg2645Gln)	SNV Germline	Chr12:49039836	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6546967	rs_375980443	2 SubmittersRCV000263871 RCV002519094
NM_003482.4(KMT2D):c.12039A>G (p.Gly4013=)	SNV Germline	Chr12:49032666	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome not specified KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA6546259	rs_567323882	4 SubmittersRCV000271099 RCV001859551 RCV003151006 RCV004542994
NM_003482.4(KMT2D):c.7829T>C (p.Leu2610Pro)	SNV Germline	Chr12:49039941	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA6546986	rs_200998047	4 SubmittersRCV000394346 RCV002059096 RCV004758681
NM_003482.4(KMT2D):c.5181C>T (p.Pro1727=)	SNV Germline	Chr12:49044207	Conflicting classifications of pathogenicity	Kabuki syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA6547611	rs_201686029	4 SubmittersRCV000334417 RCV000725010
NM_003482.4(KMT2D):c.3405A>G (p.Pro1135=)	SNV Germline	Chr12:49050183	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA10604069	rs_886042311	2 SubmittersRCV000342265 RCV002518839
NM_003482.4(KMT2D):c.7629G>A (p.Gly2543=)	SNV Germline	Chr12:49040141	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6547022	rs_201357509	2 SubmittersRCV000261275 RCV003588608
NM_003482.4(KMT2D):c.1010C>T (p.Ser337Leu)	SNV Germline	Chr12:49053017	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA6548597	rs_200245957	6 SubmittersRCV000316534 RCV002519127 RCV003588609 RCV004535292
NM_003482.4(KMT2D):c.7109G>C (p.Arg2370Pro)	SNV Germline	Chr12:49040661	Conflicting classifications of pathogenicity	not specified Kabuki syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA6547121	rs_373234419	4 SubmittersRCV000371888 RCV000555230 RCV000725339
NM_003482.4(KMT2D):c.3641G>A (p.Gly1214Asp)	SNV Germline	Chr12:49049947	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA10604622	rs_886042736	2 SubmittersRCV000263647 RCV002518897
NM_003482.4(KMT2D):c.1779A>G (p.Pro593=)	SNV Germline	Chr12:49051904	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA10604802	rs_886042877	2 SubmittersRCV000382903 RCV003588610
NM_001291415.2(KDM6A):c.2212C>T (p.Pro738Ser)	SNV Germline	ChrX:45069711	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome 2 KDM6A-related disorder	Criteria Provided Conflicting Classifications	CA10392483	rs_200638114	4 SubmittersRCV000377102 RCV002059156 RCV003947880
NM_003482.4(KMT2D):c.2551C>T (p.Leu851=)	SNV Germline	Chr12:49051132	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA6548239	rs_186151848	4 SubmittersRCV000344376 RCV002059167 RCV004543056
NM_003482.4(KMT2D):c.840-6C>T	SNV Germline	Chr12:49053327	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA6548635	rs_182926808	4 SubmittersRCV000309425 RCV002055058 RCV004543057
NM_003482.4(KMT2D):c.3813A>T (p.Leu1271=)	SNV Germline	Chr12:49049775	Conflicting classifications of pathogenicity	not specified Kabuki syndrome Condition: not provided KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA6547988	rs_201794205	5 SubmittersRCV000396358 RCV001498841 RCV003391043 RCV004758683
NM_003482.4(KMT2D):c.13871C>T (p.Ser4624Leu)	SNV Germline	Chr12:49030408	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications	CA10605272	rs_886043233	3 SubmittersRCV000405022 RCV000851303 RCV001859633
NM_003482.4(KMT2D):c.2847G>A (p.Pro949=)	SNV Germline	Chr12:49050741	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA6548161	rs_369436545	5 SubmittersRCV000316495 RCV001444830 RCV004543082
NM_003482.4(KMT2D):c.5104C>T (p.Arg1702Ter)	SNV Germline	Chr12:49044284	Pathogenic	Condition: not provided Kabuki syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10605492	rs_886043414	4 SubmittersRCV000273130 RCV001332283
NM_003482.4(KMT2D):c.15461G>A (p.Arg5154Gln)	SNV Germline	Chr12:49026505	Pathogenic/Likely pathogenic	Kabuki syndrome 1 Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10605587	rs_886043497	7 SubmittersRCV000594764 RCV000725904 RCV000808309 RCV004535373
NM_003482.4(KMT2D):c.8382C>A (p.Gly2794=)	SNV Germline	Chr12:49038974	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6546838	rs_368967997	5 SubmittersRCV000265067 RCV001287103 RCV001403678
NM_003482.4(KMT2D):c.13898C>T (p.Ser4633Leu)	SNV Germline	Chr12:49030381	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6545863	rs_373146997	2 SubmittersRCV000353239 RCV002521979
NM_003482.4(KMT2D):c.16522-4T>G	SNV Germline	Chr12:49021876	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome not specified	Criteria Provided Conflicting Classifications	CA6545339	rs_779139301	3 SubmittersRCV000268029 RCV001087369 RCV004800376
NM_003482.4(KMT2D):c.14643+12G>A	SNV Germline	Chr12:49027791	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome 1 Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA6545697	rs_186670730	5 SubmittersRCV000337584 RCV001196888 RCV001523201 RCV004543129
NM_003482.4(KMT2D):c.5503C>T (p.Arg1835Cys)	SNV Germline	Chr12:49043393	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA6547524	rs_371685892	3 SubmittersRCV000362351 RCV002519328 RCV004758684
NM_003482.4(KMT2D):c.5526T>C (p.Asp1842=)	SNV Germline	Chr12:49043370	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA6547520	rs_137955659	5 SubmittersRCV000259370 RCV001083606 RCV004543133
NM_003482.4(KMT2D):c.6409A>G (p.Thr2137Ala)	SNV Germline	Chr12:49041361	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA6547274	rs_543241831	5 SubmittersRCV000366916 RCV003114459 RCV004537611
NM_003482.4(KMT2D):c.5892G>A (p.Pro1964=)	SNV Germline	Chr12:49042306	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6547400	rs_761930376	2 SubmittersRCV000370796 RCV003588611
NM_003482.4(KMT2D):c.9474G>C (p.Gln3158His)	SNV Germline	Chr12:49037882	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome Inborn genetic diseases KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA6546688	rs_770522446	4 SubmittersRCV000368766 RCV001323700 RCV002522043 RCV004543150
NM_003482.4(KMT2D):c.15694A>G (p.Ile5232Val)	SNV Germline	Chr12:49026272	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Condition: not provided Kabuki syndrome Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Kabuki syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6545511	rs_199593058	5 SubmittersRCV000768006 RCV000733020 RCV001859847 RCV003224256 RCV002520810
NM_003482.4(KMT2D):c.11195A>G (p.Gln3732Arg)	SNV Germline	Chr12:49033510	Conflicting classifications of pathogenicity	Kabuki syndrome not specified	Criteria Provided Conflicting Classifications		rs_886049477	2 SubmittersRCV003752793 RCV004701797
NM_003482.4(KMT2D):c.5231G>A (p.Ser1744Asn)	SNV Germline	Chr12:49043956	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications		rs_377119237	2 SubmittersRCV001754248 RCV002538731
NM_003482.4(KMT2D):c.4000T>G (p.Ser1334Ala)	SNV Germline	Chr12:49049125	Conflicting classifications of pathogenicity	Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications		rs_750081274	2 SubmittersRCV002033307 RCV004536365
NM_003482.4(KMT2D):c.2737G>A (p.Glu913Lys)	SNV Germline	Chr12:49050946	Conflicting classifications of pathogenicity	Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA6548199	rs_199724002	2 SubmittersRCV001346479 RCV004537742
NM_003482.4(KMT2D):c.4163G>T (p.Arg1388Leu)	SNV Germline	Chr12:49048038	Conflicting classifications of pathogenicity	Kabuki syndrome Kabuki syndrome 1 Condition: not provided KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA6547878	rs_202217665	5 SubmittersRCV000277260 RCV000659716 RCV001706470 RCV004544537
NM_003482.4(KMT2D):c.4865G>C (p.Gly1622Ala)	SNV Germline	Chr12:49044842	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6547698	rs_377457393	2 SubmittersRCV001002444 RCV001859848
NM_003482.4(KMT2D):c.13259G>A (p.Arg4420Gln)	SNV Germline	Chr12:49031446	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6546053	rs_375999143	3 SubmittersRCV002248517 RCV004639208 RCV001512878
NM_003482.4(KMT2D):c.13071G>C (p.Arg4357Ser)	SNV Germline	Chr12:49031634	Conflicting classifications of pathogenicity	Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications		rs_533214351	2 SubmittersRCV003588909 RCV004536662
NM_003482.4(KMT2D):c.10741-7A>G	SNV Germline	Chr12:49033971	Conflicting classifications of pathogenicity	KMT2D-related disorder Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6546437	rs_550510739	3 SubmittersRCV004537736 RCV000594856 RCV001521254
NM_006892.4(DNMT3B):c.1211A>G (p.Tyr404Cys)	SNV Germline	Chr20:32795493	Conflicting classifications of pathogenicity	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Kabuki syndrome 1 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA9810462	rs_143462810	5 SubmittersRCV000371781 RCV000578148 RCV000859904 RCV001618596 RCV002265745
NM_003482.4(KMT2D):c.14075+1G>A	SNV Germline	Chr12:49029400	Pathogenic/Likely pathogenic	Kabuki syndrome 1 Inborn genetic diseases Kabuki syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10654764	rs_1057516039	4 SubmittersRCV000408635 RCV002524612 RCV002523836
NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter)	SNV Germline/somatic	Chr12:49031861	Pathogenic	Condition: not provided Kabuki syndrome 1 Multiple myeloma Kabuki syndrome KMT2D-related disorder Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA16042794	rs_1057517992	9 SubmittersRCV000413702 RCV000594502 RCV000984092 RCV003588627 RCV004530513 RCV004668916
NM_003482.4(KMT2D):c.7411C>T (p.Arg2471Ter)	SNV Germline	Chr12:49040359	Pathogenic	Condition: not provided Kabuki syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16042800	rs_1057518571	2 SubmittersRCV000414083 RCV000689855
NM_003482.4(KMT2D):c.2389C>G (p.Leu797Val)	SNV Germline	Chr12:49051294	Likely pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided	CA16043680	rs_1057518680	1 SubmittersRCV000414866
NM_003482.4(KMT2D):c.466G>T (p.Glu156Ter)	SNV Germline	Chr12:49054351	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided	CA16044357	rs_1057519422	1 SubmittersRCV000417038
NM_003482.4(KMT2D):c.10192A>C (p.Met3398Leu)	SNV Germline	Chr12:49037164	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6546590	rs_75937132	2 SubmittersRCV000436939 RCV002061318
NM_001291415.2(KDM6A):c.3754C>T (p.Leu1252Phe)	SNV Germline	ChrX:45089792	Likely pathogenic	Kabuki syndrome 2	Criteria Provided Single Submitter	CA16609406	rs_1060499665	1 SubmittersRCV000449529
NM_003482.4(KMT2D):c.12661C>T (p.Gln4221Ter)	SNV Germline	Chr12:49032044	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA16609417	rs_1060499669	1 SubmittersRCV000449566
NM_003482.4(KMT2D):c.10810C>T (p.Gln3604Ter)	SNV Germline	Chr12:49033895	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided	CA16616880	rs_1060499552	1 SubmittersRCV000477744
NM_003482.4(KMT2D):c.4148G>A (p.Cys1383Tyr)	SNV Germline	Chr12:49048053	Pathogenic	Condition: not provided Kabuki syndrome 1	Criteria Provided Single Submitter	CA16619540	rs_1064794026	2 SubmittersRCV000479907 RCV001261325
NM_001197104.2(KMT2A):c.3019G>T (p.Gly1007Cys)	SNV Germline	Chr11:118474178	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Wiedemann-Steiner syndrome	Criteria Provided Conflicting Classifications	CA229522191	rs_940325244	2 SubmittersRCV000578132 RCV000988747
NM_001197104.2(KMT2A):c.5803-1G>A	SNV Germline	Chr11:118498369	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA382798335	rs_1555044700	1 SubmittersRCV000578141
NM_003482.4(KMT2D):c.14515+1G>T	SNV Unknown	Chr12:49028008	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA384694833	rs_1555186232	1 SubmittersRCV000578147
NM_003482.4(KMT2D):c.12304C>T (p.Gln4102Ter)	SNV Germline	Chr12:49032401	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA384712242	rs_1555188129	1 SubmittersRCV000578136
NM_003482.4(KMT2D):c.12268C>T (p.Gln4090Ter)	SNV Germline	Chr12:49032437	Pathogenic/Likely pathogenic	Kabuki syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA384712383	rs_1555188155	2 SubmittersRCV000578134
NM_003482.4(KMT2D):c.11800C>T (p.Gln3934Ter)	SNV Unknown	Chr12:49032905	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA384715238	rs_1555188469	1 SubmittersRCV000578144
NM_003482.4(KMT2D):c.185C>T (p.Pro62Leu)	SNV Germline	Chr12:49054743	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6548774	rs_371342351	2 SubmittersRCV000578142 RCV003753126
NM_014727.3(KMT2B):c.7060G>A (p.Glu2354Lys)	SNV Germline	Chr19:35733773	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA9385844	rs_190929421	2 SubmittersRCV000578140 RCV002063861
NM_001291415.2(KDM6A):c.2988+1G>C	SNV Germline	ChrX:45076827	Pathogenic	Kabuki syndrome 2	Criteria Provided Single Submitter	CA412799348	rs_1135401809	1 SubmittersRCV000496172
NM_003482.4(KMT2D):c.14843C>G (p.Ser4948Ter)	SNV Germline	Chr12:49027123	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA384691553	rs_940178682	1 SubmittersRCV000498429
NM_003482.4(KMT2D):c.11515C>T (p.Gln3839Ter)	SNV Germline	Chr12:49033190	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA384718024	rs_1555188653	1 SubmittersRCV000497933
NM_003482.4(KMT2D):c.10784A>G (p.Tyr3595Cys)	SNV Germline	Chr12:49033921	Pathogenic/Likely pathogenic	Kabuki syndrome 1 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	Criteria Provided Multiple Submitters No Conflicts	CA384726218	rs_1555189207	3 SubmittersRCV001254328 RCV004800433
NM_003482.4(KMT2D):c.5269C>T (p.Arg1757Ter)	SNV Germline	Chr12:49043918	Pathogenic	Kabuki syndrome 1 Inborn genetic diseases Condition: not provided KMT2D-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA384634832	rs_1555194045	5 SubmittersRCV000503486 RCV001267387 RCV001786394 RCV004527612
NM_003482.4(KMT2D):c.4941C>T (p.Thr1647=)	SNV Germline	Chr12:49044766	Conflicting classifications of pathogenicity	not specified Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6547682	rs_748740454	3 SubmittersRCV000504046 RCV001755743 RCV002060123
NM_003482.4(KMT2D):c.4209C>A (p.Cys1403Ter)	SNV Germline	Chr12:49047992	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA384649236	rs_1555195441	1 SubmittersRCV000501903
NM_003482.4(KMT2D):c.125C>T (p.Ser42Phe)	SNV Unknown	Chr12:49054951	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA384690291	rs_1555198886	1 SubmittersRCV000505820
NM_003482.4(KMT2D):c.12634C>T (p.Arg4212Trp)	SNV Germline	Chr12:49032071	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6546171	rs_760279999	4 SubmittersRCV000514080 RCV000659801 RCV002060186
NM_003482.4(KMT2D):c.8578C>T (p.Arg2860Cys)	SNV Germline	Chr12:49038778	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA6546819	rs_201681639	3 SubmittersRCV000514112 RCV002060204 RCV004535658
NM_003482.4(KMT2D):c.10445G>A (p.Arg3482Gln)	SNV Germline	Chr12:49034472	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6546500	rs_371223664	3 SubmittersRCV000514006 RCV001857866 RCV002524982
NM_003482.4(KMT2D):c.11278G>A (p.Gly3760Ser)	SNV Germline	Chr12:49033427	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA6546331	rs_373071174	4 SubmittersRCV000514113 RCV001041581 RCV002524987 RCV001821440
NM_003482.4(KMT2D):c.15088C>T (p.Arg5030Cys)	SNV Germline	Chr12:49026878	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications	CA384690106	rs_1555185875	6 SubmittersRCV000513947 RCV000659821 RCV001857870
NM_003482.4(KMT2D):c.15968G>A (p.Arg5323His)	SNV Germline	Chr12:49024662	Conflicting classifications of pathogenicity	not specified Kabuki syndrome 1 Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6545452	rs_745599611	4 SubmittersRCV000516233 RCV001542416 RCV002473031 RCV002525046
NM_003482.4(KMT2D):c.13465G>A (p.Gly4489Arg)	SNV Germline	Chr12:49031240	Conflicting classifications of pathogenicity	not specified Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6546016	rs_200574556	2 SubmittersRCV000518659 RCV001857908
NM_003482.4(KMT2D):c.7998C>A (p.Asp2666Glu)	SNV Germline	Chr12:49039772	Conflicting classifications of pathogenicity	not specified Kabuki syndrome 1 Condition: not provided Inborn genetic diseases Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA384745891	rs_1258008817	7 SubmittersRCV000517847 RCV000659759 RCV000730803 RCV002525048 RCV002525047 RCV004537850
NM_003482.4(KMT2D):c.16498C>T (p.Arg5500Trp)	SNV Germline	Chr12:49022066	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome 1 KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA384675752	rs_1555184609	4 SubmittersRCV000523702 RCV001261320 RCV004541628
NM_003482.4(KMT2D):c.8059C>T (p.Arg2687Ter)	SNV Germline	Chr12:49039605	Pathogenic/Likely pathogenic	Condition: not provided Kabuki syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA384745548	rs_1555191598	5 SubmittersRCV000519716 RCV000659761
NM_003482.4(KMT2D):c.571C>T (p.Arg191Trp)	SNV Germline	Chr12:49054080	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA384685625	rs_1555198522	2 SubmittersRCV000519007 RCV002527598
NM_003482.4(KMT2D):c.14688C>A (p.Tyr4896Ter)	SNV Germline	Chr12:49027278	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter	CA384692235	rs_1555186079	1 SubmittersRCV000530361
NM_003482.4(KMT2D):c.12019C>T (p.Gln4007Ter)	SNV Germline	Chr12:49032686	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter	CA384713293	rs_188017299	1 SubmittersRCV000559586
NM_003482.4(KMT2D):c.840-2A>G	SNV Germline	Chr12:49053323	Likely pathogenic	Kabuki syndrome	Criteria Provided Single Submitter	CA384680417	rs_1555198201	1 SubmittersRCV000560185
NM_003482.4(KMT2D):c.12985C>T (p.Gln4329Ter)	SNV Germline	Chr12:49031720	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter	CA384708141	rs_1555187758	1 SubmittersRCV000548396
NM_003482.4(KMT2D):c.175A>G (p.Ser59Gly)	SNV Germline	Chr12:49054901	Conflicting classifications of pathogenicity	Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA384689589	rs_1555198862	2 SubmittersRCV000545685 RCV004537958
NM_003482.4(KMT2D):c.15921+1G>A	SNV Germline	Chr12:49024809	Likely pathogenic	Kabuki syndrome	Criteria Provided Single Submitter	CA384682340	rs_1555185299	1 SubmittersRCV000555530
NM_003482.4(KMT2D):c.14644-3C>G	SNV Germline	Chr12:49027325	Conflicting classifications of pathogenicity	Kabuki syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA658658150	rs_1555186093	2 SubmittersRCV000554613 RCV003126812
NM_003482.4(KMT2D):c.4204C>T (p.Gln1402Ter)	SNV Germline	Chr12:49047997	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter	CA384649283	rs_1555195442	1 SubmittersRCV000551228
NM_003482.4(KMT2D):c.16052G>A (p.Arg5351Gln)	SNV Germline	Chr12:49024578	Pathogenic	Kabuki syndrome Kabuki syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA384681045	rs_1555185217	3 SubmittersRCV000544912 RCV001261319
NM_003482.4(KMT2D):c.11755C>T (p.Gln3919Ter)	SNV Germline	Chr12:49032950	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter	CA384715774	rs_1555188501	1 SubmittersRCV000546328
NM_003482.4(KMT2D):c.4237-2A>G	SNV Germline	Chr12:49046792	Likely pathogenic	Kabuki syndrome	Criteria Provided Single Submitter	CA384647697	rs_797045001	1 SubmittersRCV000527337
NM_001291415.2(KDM6A):c.3172C>T (p.Gln1058Ter)	SNV Germline	ChrX:45079223	Pathogenic	Kabuki syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA412801240	rs_1556341546	2 SubmittersRCV000540641
NM_003482.4(KMT2D):c.12667C>T (p.Gln4223Ter)	SNV Germline	Chr12:49032038	Pathogenic	Condition: not provided Kabuki syndrome Kabuki syndrome 1 KMT2D-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA384709963	rs_1555187956	4 SubmittersRCV000578523 RCV001853839 RCV002245021 RCV004545788
NM_003482.4(KMT2D):c.7571C>T (p.Thr2524Met)	SNV Germline	Chr12:49040199	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome 1 not specified Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6547036	rs_760263014	4 SubmittersRCV000595782 RCV000763854 RCV001821725 RCV001854046
NM_003482.4(KMT2D):c.9385C>T (p.Pro3129Ser)	SNV Germline	Chr12:49037971	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome Inborn genetic diseases KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA6546701	rs_200089754	5 SubmittersRCV000594517 RCV002062068 RCV003160039 RCV004543366
NM_003482.4(KMT2D):c.13671+14A>C	SNV Germline	Chr12:49030879	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6545948	rs_775862454	2 SubmittersRCV000598545 RCV002062073
NM_003482.4(KMT2D):c.7456C>T (p.His2486Tyr)	SNV Germline	Chr12:49040314	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA384747665	rs_1292048668	2 SubmittersRCV000592375 RCV001854069
NM_003482.4(KMT2D):c.1075C>T (p.Arg359Cys)	SNV Germline	Chr12:49052952	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6548586	rs_372085797	4 SubmittersRCV000595880 RCV001860214
NM_003482.4(KMT2D):c.14713C>T (p.Gln4905Ter)	SNV Germline	Chr12:49027253	Pathogenic/Likely pathogenic	Condition: not provided Kabuki syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA384692093	rs_1555186053	2 SubmittersRCV000599418 RCV000659817
NM_003482.4(KMT2D):c.8311C>T (p.Arg2771Ter)	SNV Germline	Chr12:49039277	Pathogenic	Condition: not provided Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Multiple Submitters No Conflicts	CA384742778	rs_1251778848	5 SubmittersRCV000598596 RCV000856808 RCV001854121
NM_003482.4(KMT2D):c.15080G>A (p.Arg5027Gln)	SNV Germline	Chr12:49026886	Conflicting classifications of pathogenicity	Inborn genetic diseases Kabuki syndrome 1 not specified Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA6545604	rs_774403945	5 SubmittersRCV000622781 RCV000763851 RCV001821758 RCV001855304 RCV004533295
NM_003482.4(KMT2D):c.11944C>T (p.Arg3982Ter)	SNV Germline	Chr12:49032761	Pathogenic	Inborn genetic diseases Kabuki syndrome Kabuki syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA384713842	rs_1555188379	4 SubmittersRCV000624430 RCV001202175 RCV001261352 RCV001788303
NM_003482.4(KMT2D):c.11124C>G (p.Ser3708Arg)	SNV Germline	Chr12:49033581	Conflicting classifications of pathogenicity	Inborn genetic diseases Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6546363	rs_773713199	2 SubmittersRCV000622538 RCV001474222
NM_003482.4(KMT2D):c.6510A>C (p.Gln2170His)	SNV Germline	Chr12:49041260	Conflicting classifications of pathogenicity	Inborn genetic diseases Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6547248	rs_753121118	2 SubmittersRCV000623468 RCV003753146
NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter)	SNV Germline	Chr12:49041475	Pathogenic	Inborn genetic diseases Kabuki syndrome 1 Condition: not provided Intellectual disability KMT2D-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA384751452	rs_1452715535	10 SubmittersRCV000622445 RCV000659734 RCV000760463 RCV001257646 RCV004533293
NM_001291415.2(KDM6A):c.1677A>C (p.Gln559His)	SNV Germline	ChrX:45062742	Conflicting classifications of pathogenicity	Inborn genetic diseases Kabuki syndrome 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA10392394	rs_763587293	4 SubmittersRCV000623895 RCV001197576 RCV001584448
NM_003482.4(KMT2D):c.13818C>G (p.Tyr4606Ter)	SNV Germline	Chr12:49030622	Pathogenic	Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Multiple Submitters No Conflicts	CA384701705	rs_1555187117	2 SubmittersRCV000626219 RCV001388480
NM_003482.4(KMT2D):c.15641G>C (p.Arg5214Pro)	SNV Germline	Chr12:49026325	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided	CA384686107	rs_398123729	1 SubmittersRCV000627088
NM_003482.4(KMT2D):c.11815C>G (p.Gln3939Glu)	SNV Germline	Chr12:49032890	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications	CA384715123	rs_1326092141	2 SubmittersRCV000627093 RCV001415744
NM_001291415.2(KDM6A):c.3953C>A (p.Ser1318Ter)	SNV Germline	ChrX:45090783	Pathogenic	Condition: not provided Kabuki syndrome 2	Criteria Provided Single Submitter	CA412808311	rs_1556357314	2 SubmittersRCV000627275 RCV003148808
NM_003482.4(KMT2D):c.16338+2T>C	SNV Germline	Chr12:49022588	Likely pathogenic	Kabuki syndrome	Criteria Provided Single Submitter	CA384677297	rs_1555184777	1 SubmittersRCV000638431
NM_003482.4(KMT2D):c.12705G>A (p.Gln4235=)	SNV Germline	Chr12:49032000	Conflicting classifications of pathogenicity	Kabuki syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA236639197	rs_905791071	3 SubmittersRCV000638446 RCV001816585 RCV003133424
NM_003482.4(KMT2D):c.11812C>T (p.Gln3938Ter)	SNV Germline	Chr12:49032893	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter	CA384715136	rs_1350605713	1 SubmittersRCV000638439
NM_003482.4(KMT2D):c.11743C>T (p.Gln3915Ter)	SNV Germline	Chr12:49032962	Pathogenic/Likely pathogenic	Kabuki syndrome Kabuki syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA384715929	rs_1555188518	2 SubmittersRCV000638428 RCV000659795
NM_003482.4(KMT2D):c.4222T>G (p.Cys1408Gly)	SNV Germline	Chr12:49047979	Likely pathogenic	Kabuki syndrome	Criteria Provided Single Submitter	CA384649101	rs_1555195432	1 SubmittersRCV000638432
NM_003482.4(KMT2D):c.16342C>T (p.Arg5448Ter)	SNV Germline	Chr12:49022350	Pathogenic/Likely pathogenic	Kabuki syndrome Kabuki syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA384677189	rs_1422752351	5 SubmittersRCV000638437 RCV000659834 RCV004719911
NM_003482.4(KMT2D):c.6518C>T (p.Ser2173Leu)	SNV Germline	Chr12:49041252	Conflicting classifications of pathogenicity	Kabuki syndrome Kabuki syndrome 1 KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA6547247	rs_765654409	3 SubmittersRCV000638427 RCV000763856 RCV004533338
NM_001291415.2(KDM6A):c.2988+1G>A	SNV Germline	ChrX:45076827	Pathogenic	Condition: not provided Kabuki syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA412799350	rs_1135401809	3 SubmittersRCV000656284 RCV000687466
NM_001291415.2(KDM6A):c.3614G>A (p.Cys1205Tyr)	SNV Germline	ChrX:45085889	Likely pathogenic	Condition: not provided Kabuki syndrome 2	Criteria Provided Single Submitter	CA412804999	rs_1556350571	2 SubmittersRCV000656306 RCV000690858
NM_003482.4(KMT2D):c.7000C>T (p.Arg2334Trp)	SNV Germline	Chr12:49040770	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications		rs_1196495584	2 SubmittersRCV000658462 RCV003588661
NM_003482.4(KMT2D):c.16338+1G>T	SNV Germline	Chr12:49022589	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1555184782	1 SubmittersRCV000659833
NM_003482.4(KMT2D):c.15640C>T (p.Arg5214Cys)	SNV Germline	Chr12:49026326	Pathogenic	Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_398123728	5 SubmittersRCV000659827 RCV003588663
NM_003482.4(KMT2D):c.15583C>T (p.Gln5195Ter)	SNV Germline	Chr12:49026383	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1555185699	1 SubmittersRCV000659825
NM_003482.4(KMT2D):c.15565G>A (p.Gly5189Arg)	SNV Germline	Chr12:49026401	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications		rs_1555185701	2 SubmittersRCV000659824 RCV001060415
NM_003482.4(KMT2D):c.15499A>G (p.Ser5167Gly)	SNV Germline	Chr12:49026467	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications		rs_752976776	2 SubmittersRCV000659823 RCV002066964
NM_003482.4(KMT2D):c.15286C>T (p.Gln5096Ter)	SNV Germline	Chr12:49026680	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1555185817	1 SubmittersRCV000659822
NM_003482.4(KMT2D):c.14878C>T (p.Arg4960Ter)	SNV Germline	Chr12:49027088	Pathogenic	Kabuki syndrome 1 Kabuki syndrome KMT2D-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts		rs_1555185969	4 SubmittersRCV000659820 RCV002530556 RCV004533449 RCV004639313
NM_003482.4(KMT2D):c.14515+1G>A	SNV Germline	Chr12:49028008	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1555186232	1 SubmittersRCV000659815
NM_003482.4(KMT2D):c.14189G>A (p.Trp4730Ter)	SNV Germline	Chr12:49029123	Pathogenic/Likely pathogenic	Kabuki syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1555186527	3 SubmittersRCV000659813 RCV001268133
NM_003482.4(KMT2D):c.14000-3C>G	SNV Germline	Chr12:49029479	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1355372507	1 SubmittersRCV000659810
NM_003482.4(KMT2D):c.13531-10T>C	SNV Germline	Chr12:49031043	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications		rs_769029919	4 SubmittersRCV000659808 RCV000872429 RCV001446522 RCV004533448
NM_003482.4(KMT2D):c.13367C>G (p.Ser4456Ter)	SNV Germline	Chr12:49031338	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1555187461	1 SubmittersRCV000659807
NM_003482.4(KMT2D):c.13213C>T (p.Gln4405Ter)	SNV Germline	Chr12:49031492	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1555187575	1 SubmittersRCV000659805
NM_003482.4(KMT2D):c.12808C>T (p.Gln4270Ter)	SNV Germline	Chr12:49031897	Pathogenic/Likely pathogenic	Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1555187869	2 SubmittersRCV000659803 RCV003588662
NM_003482.4(KMT2D):c.12566G>C (p.Gly4189Ala)	SNV Germline	Chr12:49032139	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications		rs_532360713	2 SubmittersRCV000659800 RCV003753151
NM_003482.4(KMT2D):c.12469C>T (p.Gln4157Ter)	SNV Germline	Chr12:49032236	Pathogenic/Likely pathogenic	Kabuki syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_1555188080	3 SubmittersRCV000659798
NM_003482.4(KMT2D):c.11848C>T (p.Gln3950Ter)	SNV Germline	Chr12:49032857	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1555188430	1 SubmittersRCV000659797
NM_003482.4(KMT2D):c.11710C>T (p.Gln3904Ter)	SNV Germline	Chr12:49032995	Pathogenic/Likely pathogenic	Condition: not provided Kabuki syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_1555188537	2 SubmittersRCV004719920 RCV000659793
NM_003482.4(KMT2D):c.11599C>A (p.Gln3867Lys)	SNV Germline	Chr12:49033106	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications		rs_1200655258	3 SubmittersRCV000659791 RCV001201477
NM_003482.4(KMT2D):c.10999C>T (p.Gln3667Ter)	SNV Germline	Chr12:49033706	Pathogenic/Likely pathogenic	Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1555189038	2 SubmittersRCV000659783 RCV000704753
NM_003482.4(KMT2D):c.10522C>T (p.Arg3508Trp)	SNV Germline	Chr12:49034285	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications		rs_777638253	3 SubmittersRCV000659781 RCV003128720 RCV003753150
NM_003482.4(KMT2D):c.10467G>T (p.Gln3489His)	SNV Germline	Chr12:49034450	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome Condition: not provided KMT2D-related disorder	Criteria Provided Conflicting Classifications		rs_535351117	4 SubmittersRCV000659780 RCV001466229 RCV002279478 RCV004544920
NM_003482.4(KMT2D):c.10440+2T>G	SNV Germline	Chr12:49034580	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1555189421	1 SubmittersRCV000659779
NM_003482.4(KMT2D):c.10378C>T (p.Gln3460Ter)	SNV Germline	Chr12:49034644	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1555189450	1 SubmittersRCV000659778
NM_003482.4(KMT2D):c.10090C>T (p.Gln3364Ter)	SNV Germline	Chr12:49037266	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1210590639	1 SubmittersRCV000659776
NM_003482.4(KMT2D):c.9439G>A (p.Ala3147Thr)	SNV Germline	Chr12:49037917	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications		rs_1555190514	2 SubmittersRCV000659774 RCV003753149
NM_003482.4(KMT2D):c.8579G>A (p.Arg2860His)	SNV Germline	Chr12:49038777	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome Condition: not provided KMT2D-related disorder	Criteria Provided Conflicting Classifications		rs_377747403	4 SubmittersRCV000659768 RCV001481332 RCV002225706 RCV004533447
NM_003482.4(KMT2D):c.8516C>G (p.Ser2839Ter)	SNV Germline	Chr12:49038840	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1555191147	1 SubmittersRCV000659767
NM_003482.4(KMT2D):c.8405C>T (p.Ala2802Val)	SNV Germline	Chr12:49038951	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications		rs_1239905273	3 SubmittersRCV000659765 RCV003753148
NM_003482.4(KMT2D):c.8401C>T (p.Arg2801Ter)	SNV Germline	Chr12:49038955	Pathogenic/Likely pathogenic	Kabuki syndrome 1 Condition: not provided Kabuki syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1555191203	4 SubmittersRCV000659764 RCV000760314 RCV002530555
NM_003482.4(KMT2D):c.8137G>A (p.Ala2713Thr)	SNV Germline	Chr12:49039527	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications		rs_748969707	3 SubmittersRCV000659762 RCV000687769 RCV004758720
NM_003482.4(KMT2D):c.7933C>T (p.Arg2645Ter)	SNV Germline	Chr12:49039837	Pathogenic	Kabuki syndrome 1 Condition: not provided KMT2D-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1555191740	4 SubmittersRCV000659758 RCV002255498 RCV004533446
NM_003482.4(KMT2D):c.7426G>T (p.Glu2476Ter)	SNV Germline	Chr12:49040344	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1555192113	1 SubmittersRCV000659752
NM_003482.4(KMT2D):c.7366C>T (p.Arg2456Cys)	SNV Germline	Chr12:49040404	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications		rs_754060706	2 SubmittersRCV000659751 RCV002530554
NM_003482.4(KMT2D):c.6608C>T (p.Thr2203Met)	SNV Germline	Chr12:49041162	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_770692765	3 SubmittersRCV000659737 RCV001855389 RCV002225705
NM_003482.4(KMT2D):c.5752C>T (p.Arg1918Cys)	SNV Germline	Chr12:49042771	Conflicting classifications of pathogenicity	Kabuki syndrome 1 not specified Condition: not provided	Criteria Provided Conflicting Classifications		rs_747722455	3 SubmittersRCV000659733 RCV001816661 RCV004777813
NM_003482.4(KMT2D):c.5645-3C>T	SNV Germline	Chr12:49042881	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications		rs_544332856	5 SubmittersRCV000659732 RCV000911213 RCV001459987 RCV004544919
NM_003482.4(KMT2D):c.5467G>T (p.Gly1823Ter)	SNV Germline	Chr12:49043635	Pathogenic/Likely pathogenic	Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1555193912	2 SubmittersRCV000659729 RCV002532009
NM_003482.4(KMT2D):c.4762G>T (p.Glu1588Ter)	SNV Germline	Chr12:49044945	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1290729871	1 SubmittersRCV000659723
NM_003482.4(KMT2D):c.4131G>A (p.Gln1377=)	SNV Germline	Chr12:49048659	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_764942	1 SubmittersRCV000659714
NM_003482.4(KMT2D):c.4130A>C (p.Gln1377Pro)	SNV Germline	Chr12:49048660	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1555195573	1 SubmittersRCV000659713
NM_003482.4(KMT2D):c.3982C>T (p.Arg1328Trp)	SNV Germline	Chr12:49049143	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications		rs_754797404	2 SubmittersRCV000659712 RCV002532008
NM_003482.4(KMT2D):c.2992C>T (p.Pro998Ser)	SNV Germline	Chr12:49050596	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications		rs_143711798	2 SubmittersRCV000659708 RCV003753147
NM_003482.4(KMT2D):c.2819C>G (p.Ser940Ter)	SNV Germline	Chr12:49050769	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1555196590	1 SubmittersRCV000659707
NM_003482.4(KMT2D):c.2546C>A (p.Ser849Ter)	SNV Germline	Chr12:49051137	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_370492566	1 SubmittersRCV000659704
NM_003482.4(KMT2D):c.1939C>A (p.Pro647Thr)	SNV Germline	Chr12:49051744	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications		rs_200106242	3 SubmittersRCV000659697 RCV001861712 RCV004758717
NM_003482.4(KMT2D):c.941C>G (p.Ser314Cys)	SNV Germline	Chr12:49053220	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications		rs_1043654062	2 SubmittersRCV000659694 RCV002534325
NM_003482.4(KMT2D):c.838A>G (p.Arg280Gly)	SNV Germline	Chr12:49053477	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications		rs_1555198244	2 SubmittersRCV000659693 RCV002295309
NM_003482.4(KMT2D):c.423G>A (p.Trp141Ter)	SNV Germline	Chr12:49054394	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1555198640	1 SubmittersRCV000659689
NM_003482.4(KMT2D):c.176+15G>A	SNV Germline	Chr12:49054885	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications		rs_1415205254	2 SubmittersRCV000659687 RCV002536342
NM_003482.4(KMT2D):c.50-1G>T	SNV Germline	Chr12:49055027	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1555198921	1 SubmittersRCV000659686
NM_001291415.2(KDM6A):c.2899T>C (p.Leu967=)	SNV Germline	ChrX:45076737	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome 2	Criteria Provided Conflicting Classifications		rs_374328447	2 SubmittersRCV000659685 RCV002534324
NM_001291415.2(KDM6A):c.3925G>T (p.Glu1309Ter)	SNV Germline	ChrX:45090755	Likely pathogenic	Kabuki syndrome 2	Criteria Provided Single Submitter		rs_1556357274	1 SubmittersRCV000677732
NM_003482.4(KMT2D):c.16019G>A (p.Arg5340Gln)	SNV Germline	Chr12:49024611	Pathogenic/Likely pathogenic	Kabuki syndrome 1 Kabuki syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1565756106	4 SubmittersRCV000681514 RCV001868307 RCV002307588
NM_003482.4(KMT2D):c.2515G>T (p.Glu839Ter)	SNV Germline	Chr12:49051168	Likely pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_781145102	1 SubmittersRCV000684769
NM_003482.4(KMT2D):c.10502T>G (p.Val3501Gly)	SNV Germline	Chr12:49034415	Likely pathogenic	Kabuki syndrome	Criteria Provided Single Submitter		rs_1565781216	1 SubmittersRCV000703136
NM_003482.4(KMT2D):c.7967T>C (p.Leu2656Ser)	SNV Germline	Chr12:49039803	Conflicting classifications of pathogenicity	Kabuki syndrome not specified	Criteria Provided Conflicting Classifications		rs_1014845953	2 SubmittersRCV000691724 RCV004702325
NM_003482.4(KMT2D):c.307C>T (p.Pro103Ser)	SNV Germline	Chr12:49054621	Conflicting classifications of pathogenicity	Kabuki syndrome Kabuki syndrome 1	Criteria Provided Conflicting Classifications		rs_976882824	2 SubmittersRCV000697354 RCV001291752
NM_003482.4(KMT2D):c.10570C>T (p.Gln3524Ter)	SNV Germline	Chr12:49034237	Pathogenic	Kabuki syndrome Branchial cleft anomaly	Criteria Provided Multiple Submitters No Conflicts		rs_1565780936	2 SubmittersRCV000702805 RCV004798858
NM_003482.4(KMT2D):c.4359C>G (p.His1453Gln)	SNV Germline	Chr12:49046668	Likely pathogenic	Kabuki syndrome	Criteria Provided Single Submitter		rs_767737749	1 SubmittersRCV000685040
NM_003482.4(KMT2D):c.11881C>T (p.Gln3961Ter)	SNV Germline	Chr12:49032824	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter		rs_1565776616	1 SubmittersRCV000705834
NM_003482.4(KMT2D):c.5263C>T (p.Gln1755Ter)	SNV Germline	Chr12:49043924	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter		rs_1565802369	1 SubmittersRCV000705469
NM_003482.4(KMT2D):c.7649C>A (p.Pro2550His)	SNV Germline	Chr12:49040121	Conflicting classifications of pathogenicity	Kabuki syndrome KMT2D-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_368698254	3 SubmittersRCV000686273 RCV004527738 RCV004639320
NM_001291415.2(KDM6A):c.3094+2T>C	SNV Germline	ChrX:45078507	Likely pathogenic	Kabuki syndrome 2	Criteria Provided Single Submitter		rs_1569537333	1 SubmittersRCV000706419
NM_001291415.2(KDM6A):c.3919C>T (p.Arg1307Trp)	SNV Germline	ChrX:45090749	Pathogenic	Kabuki syndrome 2 Kabuki syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_1450363794	2 SubmittersRCV000685508 RCV001813796
NM_003482.4(KMT2D):c.13118G>A (p.Gly4373Asp)	SNV Germline	Chr12:49031587	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications		rs_770966197	3 SubmittersRCV000712305 RCV001861974
NM_003482.4(KMT2D):c.6434C>T (p.Pro2145Leu)	SNV Germline	Chr12:49041336	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications		rs_574231443	4 SubmittersRCV000727922 RCV002535051 RCV004540033
NM_003482.4(KMT2D):c.16299C>T (p.Asn5433=)	SNV Germline	Chr12:49022629	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications		rs_975080118	3 SubmittersRCV000728092 RCV002060966 RCV004540034
NM_003482.4(KMT2D):c.11401A>C (p.Met3801Leu)	SNV Germline	Chr12:49033304	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications		rs_564097272	2 SubmittersRCV000729065 RCV001862165
NM_003482.4(KMT2D):c.1568C>T (p.Pro523Leu)	SNV Germline	Chr12:49052115	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications		rs_376761356	3 SubmittersRCV000730804 RCV003117529 RCV004535839
NM_003482.4(KMT2D):c.2646G>A (p.Leu882=)	SNV Germline	Chr12:49051037	Conflicting classifications of pathogenicity	Condition: not provided not specified Kabuki syndrome	Criteria Provided Conflicting Classifications		rs_376227770	3 SubmittersRCV000732460 RCV001816803 RCV002067130
NM_003482.4(KMT2D):c.10165A>G (p.Met3389Val)	SNV Germline	Chr12:49037191	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome Kabuki syndrome 1	Criteria Provided Conflicting Classifications		rs_372740284	4 SubmittersRCV000732648 RCV001855689 RCV002485922
NM_003482.4(KMT2D):c.11180G>A (p.Arg3727His)	SNV Germline	Chr12:49033525	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications		rs_777628634	2 SubmittersRCV000733445 RCV001063842
NM_003482.4(KMT2D):c.7078C>G (p.Pro2360Ala)	SNV Germline	Chr12:49040692	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications		rs_376483324	3 SubmittersRCV000733975 RCV002067160 RCV004540072
NM_003482.4(KMT2D):c.14474G>A (p.Arg4825Gln)	SNV Germline	Chr12:49028050	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications		rs_758494772	5 SubmittersRCV002536521 RCV000734492 RCV001855815 RCV004540074
NM_003482.4(KMT2D):c.1305C>T (p.Asn435=)	SNV Germline	Chr12:49052378	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications		rs_1296595611	2 SubmittersRCV000735048 RCV003753156
NM_003482.4(KMT2D):c.4214A>G (p.His1405Arg)	SNV Unknown	Chr12:49047987	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1565809463	1 SubmittersRCV000735232
NM_003482.4(KMT2D):c.14568G>A (p.Trp4856Ter)	SNV Germline	Chr12:49027878	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1565763192	1 SubmittersRCV000760268
NM_003482.4(KMT2D):c.4262G>A (p.Gly1421Asp)	SNV Germline	Chr12:49046765	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1565807707	1 SubmittersRCV000760196
NM_003482.4(KMT2D):c.16018C>T (p.Arg5340Ter)	SNV Germline	Chr12:49024612	Pathogenic	Condition: not provided Kabuki syndrome 1 Kabuki syndrome Inborn genetic diseases Kabuki syndrome 1 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1565756115	5 SubmittersRCV000760462 RCV002285172 RCV001855926 RCV002533836 RCV003883162
NM_001291415.2(KDM6A):c.2128C>T (p.Arg710Ter)	SNV Germline	ChrX:45069627	Pathogenic	Condition: not provided Neurodevelopmental disorder Kabuki syndrome 2	Criteria Provided Multiple Submitters No Conflicts		rs_755440519	3 SubmittersRCV000760811 RCV001779074 RCV003642916
NM_003482.4(KMT2D):c.15341A>C (p.His5114Pro)	SNV Germline	Chr12:49026625	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Kabuki syndrome 1	Criteria Provided Conflicting Classifications		rs_1565759674	1 SubmittersRCV000768007 RCV003224807
NM_003482.4(KMT2D):c.11849A>G (p.Gln3950Arg)	SNV Germline	Chr12:49032856	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome Condition: not provided Kabuki syndrome 1 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications		rs_751367935	4 SubmittersRCV000768008 RCV001869057 RCV001572528 RCV003224414 RCV004540088
NM_003482.4(KMT2D):c.7328G>T (p.Arg2443Leu)	SNV Germline	Chr12:49040442	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Condition: not provided Kabuki syndrome 1 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Kabuki syndrome	Criteria Provided Conflicting Classifications		rs_780776865	3 SubmittersRCV000768009 RCV001785720 RCV003224415 RCV003768306
NM_003482.4(KMT2D):c.7001G>A (p.Arg2334Gln)	SNV Germline	Chr12:49040769	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome Kabuki syndrome 1 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	Criteria Provided Conflicting Classifications		rs_757300574	2 SubmittersRCV000768010 RCV002533930 RCV003224416
NM_003482.4(KMT2D):c.1408C>T (p.Pro470Ser)	SNV Germline	Chr12:49052275	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome Kabuki syndrome 1 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	Criteria Provided Conflicting Classifications		rs_761594079	2 SubmittersRCV000768255 RCV002533939 RCV003224446
NM_003482.4(KMT2D):c.16294C>T (p.Arg5432Trp)	SNV Germline	Chr12:49022634	Pathogenic	Condition: not provided Kabuki syndrome 1 See cases Kabuki syndrome KMT2D-related disorder Branchial cleft anomaly	Criteria Provided Multiple Submitters No Conflicts		rs_1565753611	7 SubmittersRCV000782029 RCV002509534 RCV003156134 RCV003588678 RCV004535913 RCV004798870
NM_003482.4(KMT2D):c.9002A>G (p.Lys3001Arg)	SNV Germline	Chr12:49038354	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications		rs_371231725	2 SubmittersRCV000785108 RCV002535721
NM_003482.4(KMT2D):c.8366+1G>T	SNV Germline	Chr12:49039221	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1057518149	1 SubmittersRCV000785616
NM_003482.4(KMT2D):c.11047C>T (p.Gln3683Ter)	SNV Germline/somatic	Chr12:49033658	Pathogenic	Kabuki syndrome Cavernous sinus meningioma	Criteria Provided Single Submitter		rs_1565779530	2 SubmittersRCV001382674 RCV004813137
NM_003482.4(KMT2D):c.9964C>T (p.Gln3322Ter)	SNV Germline	Chr12:49037392	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1592129081	1 SubmittersRCV000786997
NM_003482.4(KMT2D):c.8229+1G>A	SNV Germline	Chr12:49039434	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1592133086	1 SubmittersRCV000789030
NM_003482.4(KMT2D):c.12715C>T (p.Gln4239Ter)	SNV Germline	Chr12:49031990	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter		rs_1592117125	1 SubmittersRCV000807749
NM_003482.4(KMT2D):c.11971C>T (p.Gln3991Ter)	SNV Germline	Chr12:49032734	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter		rs_1592118953	1 SubmittersRCV000800601
NM_003482.4(KMT2D):c.11968C>T (p.Gln3990Ter)	SNV Germline	Chr12:49032737	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter		rs_1592118976	1 SubmittersRCV000804521
NM_003482.4(KMT2D):c.8953A>T (p.Lys2985Ter)	SNV Germline	Chr12:49038403	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter		rs_1592131106	1 SubmittersRCV000815766
NM_003482.4(KMT2D):c.8200C>T (p.Arg2734Ter)	SNV Germline	Chr12:49039464	Pathogenic	Kabuki syndrome Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1565790749	2 SubmittersRCV000809405 RCV001261270
NM_003482.4(KMT2D):c.8044C>T (p.Gln2682Ter)	SNV Germline	Chr12:49039726	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter		rs_1592133696	1 SubmittersRCV000815717
NM_003482.4(KMT2D):c.6496C>T (p.Gln2166Ter)	SNV Germline	Chr12:49041274	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter		rs_1592137413	1 SubmittersRCV000796161
NM_003482.4(KMT2D):c.6114G>A (p.Trp2038Ter)	SNV Germline	Chr12:49041986	Pathogenic	Kabuki syndrome Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1592138822	2 SubmittersRCV000816142 RCV001261266
NM_003482.4(KMT2D):c.3788C>G (p.Ser1263Ter)	SNV Germline	Chr12:49049800	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter		rs_1592151169	1 SubmittersRCV000799599
NM_003482.4(KMT2D):c.1529C>G (p.Ser510Ter)	SNV Germline	Chr12:49052154	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter		rs_1592157335	1 SubmittersRCV000818574
NM_001291415.2(KDM6A):c.2629A>G (p.Thr877Ala)	SNV Germline	ChrX:45070128	Conflicting classifications of pathogenicity	Kabuki syndrome 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_140562248	2 SubmittersRCV000793290 RCV002245669
NM_001291415.2(KDM6A):c.3740C>T (p.Pro1247Leu)	SNV Germline	ChrX:45089778	Likely pathogenic	Kabuki syndrome 2	Criteria Provided Single Submitter		rs_1602985802	1 SubmittersRCV000803634
NM_001291415.2(KDM6A):c.4207C>T (p.Arg1403Ter)	SNV Germline	ChrX:45110124	Pathogenic	Kabuki syndrome 2	Criteria Provided Multiple Submitters No Conflicts		rs_1318649487	2 SubmittersRCV000798575
NM_003482.4(KMT2D):c.5868-1G>A	SNV Germline	Chr12:49042331	Likely pathogenic	Kabuki syndrome	Criteria Provided Single Submitter		rs_867333942	1 SubmittersRCV000807741
NM_003482.4(KMT2D):c.14076-2A>C	SNV Germline	Chr12:49029238	Likely pathogenic	Kabuki syndrome	Criteria Provided Single Submitter		rs_1592110749	1 SubmittersRCV000818246
NM_003482.4(KMT2D):c.5319+1G>A	SNV Germline	Chr12:49043867	Likely pathogenic	Kabuki syndrome	Criteria Provided Single Submitter		rs_1057520722	1 SubmittersRCV000813800
NM_001291415.2(KDM6A):c.1581+1G>T	SNV Germline	ChrX:45061420	Likely pathogenic	Kabuki syndrome 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1602799769	2 SubmittersRCV000810693 RCV004721631
NM_001291415.2(KDM6A):c.3300+1G>A	SNV Germline	ChrX:45079352	Likely pathogenic	Kabuki syndrome 2	Criteria Provided Single Submitter		rs_1602928572	1 SubmittersRCV000821618
NM_001291415.2(KDM6A):c.4317T>A (p.Tyr1439Ter)	SNV Unknown	ChrX:45110234	Likely pathogenic	Kabuki syndrome 2	Criteria Provided Single Submitter		rs_1603068073	1 SubmittersRCV000850404
NM_003482.4(KMT2D):c.15089G>A (p.Arg5030His)	SNV Germline	Chr12:49026877	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1592105909	1 SubmittersRCV000850498
NM_003482.4(KMT2D):c.6010C>T (p.Gln2004Ter)	SNV Germline	Chr12:49042188	Pathogenic	Kabuki syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_1592139221	2 SubmittersRCV000853285
NM_001291415.2(KDM6A):c.493C>T (p.Arg165Ter)	SNV Germline/somatic	ChrX:45020659	Pathogenic	Kabuki syndrome 2 Condition: not provided Malignant tumor of urinary bladder	Criteria Provided Multiple Submitters No Conflicts		rs_912069418	6 SubmittersRCV000853276 RCV002269324 RCV003332269
NM_003482.4(KMT2D):c.5869G>T (p.Glu1957Ter)	SNV Unknown	Chr12:49042329	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1592139573	1 SubmittersRCV000856795
NM_003482.4(KMT2D):c.5278A>T (p.Lys1760Ter)	SNV Unknown	Chr12:49043909	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1592142093	1 SubmittersRCV000856790
NM_003482.4(KMT2D):c.6998C>T (p.Pro2333Leu)	SNV Germline	Chr12:49040772	Conflicting classifications of pathogenicity	Kabuki syndrome Condition: not provided KMT2D-related disorder	Criteria Provided Conflicting Classifications		rs_377504041	3 SubmittersRCV000946376 RCV002546009 RCV004543552
NM_003482.4(KMT2D):c.3907-9T>G	SNV Germline	Chr12:49049227	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome not specified	Criteria Provided Conflicting Classifications		rs_367751308	3 SubmittersRCV000895124 RCV002065615 RCV001818700
NM_003482.4(KMT2D):c.12848C>G (p.Pro4283Arg)	SNV Germline	Chr12:49031857	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications		rs_768584961	2 SubmittersRCV000943965 RCV001435489
NM_003482.4(KMT2D):c.14893G>A (p.Ala4965Thr)	SNV Germline	Chr12:49027073	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications		rs_200747934	3 SubmittersRCV000988830 RCV001510488 RCV004536015
NM_003482.4(KMT2D):c.8230-1G>A	SNV Unknown	Chr12:49039359	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1592132971	1 SubmittersRCV000988836
NM_003482.4(KMT2D):c.7021C>T (p.Gln2341Ter)	SNV Unknown	Chr12:49040749	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1592136242	1 SubmittersRCV000988838
NM_003482.4(KMT2D):c.176+1G>A	SNV Unknown	Chr12:49054899	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1592162768	1 SubmittersRCV000988843
NM_003482.4(KMT2D):c.14972G>A (p.Arg4991Gln)	SNV Germline	Chr12:49026994	Conflicting classifications of pathogenicity	not specified Kabuki syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_761108868	4 SubmittersRCV001819701 RCV001858750 RCV000992311
NM_003482.4(KMT2D):c.14413G>A (p.Glu4805Lys)	SNV Germline	Chr12:49028111	Conflicting classifications of pathogenicity	Kabuki syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_563335387	3 SubmittersRCV001858749 RCV000992309
NM_003482.4(KMT2D):c.11347C>G (p.Gln3783Glu)	SNV Germline	Chr12:49033358	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome Kabuki syndrome 1	Criteria Provided Conflicting Classifications		rs_752477959	3 SubmittersRCV000992308 RCV001858748 RCV003447569
NM_003482.4(KMT2D):c.6884C>T (p.Ser2295Phe)	SNV Germline	Chr12:49040886	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications		rs_758685548	4 SubmittersRCV000992315 RCV002275178 RCV002549793
NM_003482.4(KMT2D):c.12889T>C (p.Ser4297Pro)	SNV Germline	Chr12:49031816	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome Condition: not provided Inborn genetic diseases KMT2D-related disorder	Criteria Provided Conflicting Classifications		rs_370243498	6 SubmittersRCV001002641 RCV001410364 RCV001683722 RCV002549185 RCV004545010
NM_003482.4(KMT2D):c.793C>T (p.Arg265Cys)	SNV Germline	Chr12:49053522	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome Condition: not provided KMT2D-related disorder	Criteria Provided Conflicting Classifications		rs_766543419	4 SubmittersRCV001000836 RCV001858913 RCV003392728 RCV004545007
NM_003482.4(KMT2D):c.7228C>T (p.Arg2410Ter)	SNV Germline	Chr12:49040542	Pathogenic	Microcephaly Kabuki syndrome 1 Kabuki syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1943461045	4 SubmittersRCV001252695 RCV001352916 RCV001390429 RCV003147574
NM_003482.4(KMT2D):c.166C>T (p.Gln56Ter)	SNV Germline	Chr12:49054910	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1592162790	2 SubmittersRCV001029731
NM_003482.4(KMT2D):c.15629A>G (p.Tyr5210Cys)	SNV Germline	Chr12:49026337	Likely pathogenic	Kabuki syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1942587772	2 SubmittersRCV001071132 RCV004720063
NM_003482.4(KMT2D):c.15289C>T (p.Arg5097Ter)	SNV Germline	Chr12:49026677	Pathogenic	Kabuki syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1942608745	2 SubmittersRCV001055633 RCV001823181
NM_003482.4(KMT2D):c.15185G>A (p.Cys5062Tyr)	SNV Germline	Chr12:49026781	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter		rs_1942615152	1 SubmittersRCV001042852
NM_003482.4(KMT2D):c.15171G>A (p.Trp5057Ter)	SNV Germline	Chr12:49026795	Pathogenic/Likely pathogenic	Kabuki syndrome KMT2D-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1942616266	2 SubmittersRCV001047223 RCV004536090
NM_003482.4(KMT2D):c.9136G>T (p.Glu3046Ter)	SNV Germline	Chr12:49038220	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter		rs_1943319609	1 SubmittersRCV001066351
NM_003482.4(KMT2D):c.5149C>T (p.Gln1717Ter)	SNV Germline	Chr12:49044239	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter		rs_1157281284	1 SubmittersRCV001066879
NM_003482.4(KMT2D):c.8521C>A (p.Pro2841Thr)	SNV Germline	Chr12:49038835	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications		rs_763347763	2 SubmittersRCV001090719 RCV001873447
NM_003482.4(KMT2D):c.5375T>C (p.Val1792Ala)	SNV Germline	Chr12:49043727	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications		rs_757707458	2 SubmittersRCV001090722 RCV001862681
NM_003482.4(KMT2D):c.14057A>C (p.Asn4686Thr)	SNV Germline	Chr12:49029419	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Condition: not provided Inborn genetic diseases Kabuki syndrome	Criteria Provided Conflicting Classifications		rs_1188206999	4 SubmittersRCV001095777 RCV001759864 RCV002554883 RCV003769039
NM_003482.4(KMT2D):c.14575C>T (p.Gln4859Ter)	SNV Unknown	Chr12:49027871	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1942683224	1 SubmittersRCV001197916
NM_003482.4(KMT2D):c.6607A>T (p.Thr2203Ser)	SNV Germline	Chr12:49041163	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1943505364	3 SubmittersRCV001197285 RCV002560233 RCV002560232
NM_003482.4(KMT2D):c.1912C>G (p.Pro638Ala)	SNV Germline	Chr12:49051771	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications		rs_372919446	3 SubmittersRCV001197423 RCV001863113 RCV004528409
NM_003482.4(KMT2D):c.1628C>T (p.Ser543Leu)	SNV Germline	Chr12:49052055	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications		rs_776242478	2 SubmittersRCV001196769 RCV002560225
NM_003482.4(KMT2D):c.14945G>A (p.Trp4982Ter)	SNV Germline	Chr12:49027021	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter		rs_1942631986	1 SubmittersRCV001219587
NM_003482.4(KMT2D):c.11902C>T (p.Gln3968Ter)	SNV Germline	Chr12:49032803	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter		rs_1942993834	1 SubmittersRCV001223071
NM_003482.4(KMT2D):c.6945C>G (p.His2315Gln)	SNV Germline	Chr12:49040825	Conflicting classifications of pathogenicity	Kabuki syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_764686162	2 SubmittersRCV001215175 RCV002285458
NM_003482.4(KMT2D):c.13964C>T (p.Ala4655Val)	SNV Germline	Chr12:49030315	Conflicting classifications of pathogenicity	Kabuki syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_575126048	2 SubmittersRCV001203355 RCV003490117
NM_003482.4(KMT2D):c.11524C>T (p.Gln3842Ter)	SNV Germline	Chr12:49033181	Pathogenic	Kabuki syndrome Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1943040858	2 SubmittersRCV001211934 RCV001261303
NM_003482.4(KMT2D):c.8386C>T (p.Gln2796Ter)	SNV Germline	Chr12:49038970	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter		rs_1555191210	1 SubmittersRCV001227532
NM_003482.4(KMT2D):c.7769C>A (p.Ser2590Ter)	SNV Germline	Chr12:49040001	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter		rs_760007799	1 SubmittersRCV001227205
NM_003482.4(KMT2D):c.13225G>T (p.Glu4409Ter)	SNV Germline	Chr12:49031480	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter		rs_1942907207	1 SubmittersRCV001243135
NM_001291415.2(KDM6A):c.3301-2A>G	SNV Germline	ChrX:45082574	Likely pathogenic	Kabuki syndrome 2	Criteria Provided Single Submitter		rs_1195711941	1 SubmittersRCV001238223
NM_003482.4(KMT2D):c.16338+1G>A	SNV Germline	Chr12:49022589	Likely pathogenic	Kabuki syndrome	Criteria Provided Single Submitter		rs_1555184782	1 SubmittersRCV001240828
NM_001291415.2(KDM6A):c.3811T>C (p.Trp1271Arg)	SNV Unknown	ChrX:45089849	Conflicting classifications of pathogenicity	Kabuki Syndrome - KDM6A Condition: not provided	Criteria Provided Conflicting Classifications		rs_2045816079	2 SubmittersRCV001249759 RCV002504372
NM_003482.4(KMT2D):c.6314G>A (p.Arg2105His)	SNV Germline	Chr12:49041456	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications		rs_772506992	2 SubmittersRCV001249846 RCV001879766
NM_003482.4(KMT2D):c.3539C>A (p.Ser1180Ter)	SNV Germline	Chr12:49050049	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_750754763	1 SubmittersRCV001250413
NM_003482.4(KMT2D):c.6302C>T (p.Ala2101Val)	SNV Unknown	Chr12:49041468	Likely pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1943527215	1 SubmittersRCV001252035
NM_003482.4(KMT2D):c.3761A>C (p.Glu1254Ala)	SNV Unknown	Chr12:49049827	Likely pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1937821838	1 SubmittersRCV001252037
NM_001291415.2(KDM6A):c.2519C>G (p.Ala840Gly)	SNV Unknown	ChrX:45070018	Likely pathogenic	Kabuki syndrome 2	No Assertion Criteria Provided		rs_2044746153	1 SubmittersRCV001252278
NM_003482.4(KMT2D):c.8366+2T>G	SNV Germline	Chr12:49039220	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter		rs_1943368267	1 SubmittersRCV001253504
NM_001291415.2(KDM6A):c.140A>G (p.Glu47Gly)	SNV Germline	ChrX:44873691	Pathogenic	Kabuki syndrome 2	Criteria Provided Single Submitter		rs_2031089646	1 SubmittersRCV001254085
NM_001291415.2(KDM6A):c.908C>A (p.Ala303Asp)	SNV Germline	ChrX:45059038	Likely pathogenic	Kabuki syndrome 2	Criteria Provided Single Submitter		rs_2044199885	1 SubmittersRCV001254086
NM_003482.4(KMT2D):c.10624C>G (p.Leu3542Val)	SNV Germline	Chr12:49034183	Conflicting classifications of pathogenicity	Kabuki syndrome 1 6 conditions	Criteria Provided Conflicting Classifications		rs_1943099362	2 SubmittersRCV001254684 RCV002468626
NM_003482.4(KMT2D):c.6638G>A (p.Gly2213Asp)	SNV Germline	Chr12:49041132	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_368767696	3 SubmittersRCV001254693 RCV001879916 RCV003130235
NM_003482.4(KMT2D):c.935C>A (p.Ala312Asp)	SNV Germline	Chr12:49053226	Conflicting classifications of pathogenicity	Kabuki syndrome KMT2D-related disorder Kabuki syndrome 1	Criteria Provided Conflicting Classifications		rs_750484458	3 SubmittersRCV002570582 RCV004545157 RCV004799365
NM_001291415.2(KDM6A):c.3409G>A (p.Gly1137Arg)	SNV Germline	ChrX:45082758	Likely pathogenic	Kabuki syndrome 2	Criteria Provided Single Submitter		rs_2045472713	1 SubmittersRCV001258336
NM_003482.4(KMT2D):c.16412+5G>C	SNV Unknown	Chr12:49022275	Likely pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1942367824	1 SubmittersRCV001261215
NM_003482.4(KMT2D):c.14076-1G>A	SNV Germline	Chr12:49029237	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1942763268	1 SubmittersRCV001261345
NM_003482.4(KMT2D):c.8366+2T>C	SNV Germline	Chr12:49039220	Likely pathogenic	Kabuki syndrome 1 Condition: not provided	Criteria Provided Single Submitter		rs_1943368267	2 SubmittersRCV001261271 RCV001815528
NM_003482.4(KMT2D):c.5867+5G>A	SNV Germline	Chr12:49042556	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1943591477	1 SubmittersRCV001261327
NM_003482.4(KMT2D):c.3906+2T>C	SNV Germline	Chr12:49049680	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1937804892	1 SubmittersRCV001261259
NM_003482.4(KMT2D):c.1259-14T>A	SNV Unknown	Chr12:49052438	Likely pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_199555464	1 SubmittersRCV001261311
NM_003482.4(KMT2D):c.400+2T>C	SNV Unknown	Chr12:49054526	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1938283570	1 SubmittersRCV001261260
NM_001291415.2(KDM6A):c.443+5G>C	SNV Germline	ChrX:45011024	Pathogenic	Kabuki syndrome 2	No Assertion Criteria Provided		rs_2041729565	1 SubmittersRCV001261238
NM_001291415.2(KDM6A):c.564+1G>T	SNV Germline	ChrX:45020731	Pathogenic	Kabuki syndrome 2	No Assertion Criteria Provided		rs_2042138847	1 SubmittersRCV001261240
NM_001291415.2(KDM6A):c.619+6T>C	SNV Germline	ChrX:45034991	Pathogenic	Kabuki syndrome 2	No Assertion Criteria Provided		rs_2042747021	1 SubmittersRCV001261241
NM_001291415.2(KDM6A):c.620-2A>G	SNV Germline	ChrX:45037653	Pathogenic	Kabuki syndrome 2	No Assertion Criteria Provided		rs_2042875800	1 SubmittersRCV001261278
NM_001291415.2(KDM6A):c.875+1G>A	SNV Unknown	ChrX:45053956	Pathogenic	Kabuki syndrome 2	No Assertion Criteria Provided		rs_2043963299	1 SubmittersRCV001261232
NM_001291415.2(KDM6A):c.3095-1G>T	SNV Unknown	ChrX:45079145	Likely pathogenic	Kabuki syndrome 2	No Assertion Criteria Provided		rs_2045273679	1 SubmittersRCV001261235
NM_001291415.2(KDM6A):c.3590-2A>G	SNV Germline	ChrX:45085863	Likely pathogenic	Kabuki syndrome 2	No Assertion Criteria Provided		rs_2045619034	1 SubmittersRCV001261279
NM_003482.4(KMT2D):c.15920C>G (p.Ser5307Ter)	SNV Germline	Chr12:49024811	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1942494207	1 SubmittersRCV001261213
NM_003482.4(KMT2D):c.15781C>T (p.Gln5261Ter)	SNV Germline	Chr12:49026185	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1942575636	1 SubmittersRCV001261212
NM_003482.4(KMT2D):c.15730A>T (p.Lys5244Ter)	SNV Germline	Chr12:49026236	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1942579666	1 SubmittersRCV001261211
NM_003482.4(KMT2D):c.15673C>T (p.Arg5225Cys)	SNV Germline	Chr12:49026293	Pathogenic	Kabuki syndrome 1 Condition: not provided Kabuki syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts		rs_1942584412	5 SubmittersRCV001261210 RCV001586096 RCV001880013 RCV004987012
NM_003482.4(KMT2D):c.15536G>T (p.Arg5179Leu)	SNV Germline	Chr12:49026430	Likely pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_267607237	1 SubmittersRCV001261209
NM_003482.4(KMT2D):c.15349T>G (p.Cys5117Gly)	SNV Germline	Chr12:49026617	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1942604482	1 SubmittersRCV001261208
NM_003482.4(KMT2D):c.15176A>G (p.His5059Arg)	SNV Germline	Chr12:49026790	Likely pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1942615651	1 SubmittersRCV001261207
NM_003482.4(KMT2D):c.14873C>G (p.Ser4958Ter)	SNV Germline	Chr12:49027093	Likely pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1942637043	1 SubmittersRCV001261348
NM_003482.4(KMT2D):c.14803G>T (p.Glu4935Ter)	SNV Unknown	Chr12:49027163	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1404087769	1 SubmittersRCV001261347
NM_003482.4(KMT2D):c.13660C>T (p.Gln4554Ter)	SNV Unknown	Chr12:49030904	Likely pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1942873615	1 SubmittersRCV001261343
NM_003482.4(KMT2D):c.13201C>T (p.Gln4401Ter)	SNV Unknown	Chr12:49031504	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1942908701	1 SubmittersRCV001261313
NM_003482.4(KMT2D):c.12955A>T (p.Arg4319Ter)	SNV Unknown	Chr12:49031750	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1942923153	1 SubmittersRCV001261339
NM_003482.4(KMT2D):c.12943C>T (p.Gln4315Ter)	SNV Unknown	Chr12:49031762	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1942924286	1 SubmittersRCV001261338
NM_003482.4(KMT2D):c.12598C>T (p.Gln4200Ter)	SNV Germline	Chr12:49032107	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1942949318	1 SubmittersRCV001261335
NM_003482.4(KMT2D):c.12301C>T (p.Gln4101Ter)	SNV Germline	Chr12:49032404	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1942965341	1 SubmittersRCV001261332
NM_003482.4(KMT2D):c.11977C>T (p.Gln3993Ter)	SNV Unknown	Chr12:49032728	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_749377569	1 SubmittersRCV001261309
NM_003482.4(KMT2D):c.11851C>T (p.Gln3951Ter)	SNV Germline	Chr12:49032854	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1943001493	1 SubmittersRCV001261308
NM_003482.4(KMT2D):c.11827C>T (p.Gln3943Ter)	SNV Germline	Chr12:49032878	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1943006802	1 SubmittersRCV001261307
NM_003482.4(KMT2D):c.11632C>T (p.Gln3878Ter)	SNV Germline	Chr12:49033073	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1397969096	1 SubmittersRCV001261310
NM_003482.4(KMT2D):c.11203C>T (p.Gln3735Ter)	SNV Germline	Chr12:49033502	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1943059195	1 SubmittersRCV001261302
NM_003482.4(KMT2D):c.10841C>G (p.Ser3614Ter)	SNV Germline	Chr12:49033864	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_758877211	1 SubmittersRCV001261301
NM_003482.4(KMT2D):c.10740G>T (p.Gln3580His)	SNV Germline	Chr12:49034067	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_398123700	1 SubmittersRCV001261276
NM_003482.4(KMT2D):c.10357C>T (p.Gln3453Ter)	SNV Unknown	Chr12:49034665	Likely pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1943129966	1 SubmittersRCV001261275
NM_003482.4(KMT2D):c.9829C>T (p.Gln3277Ter)	SNV Unknown	Chr12:49037527	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1943280408	1 SubmittersRCV001261274
NM_003482.4(KMT2D):c.9730G>T (p.Glu3244Ter)	SNV Unknown	Chr12:49037626	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1258009682	1 SubmittersRCV001261351
NM_003482.4(KMT2D):c.9145C>G (p.Leu3049Val)	SNV Unknown	Chr12:49038211	Likely pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1051646314	1 SubmittersRCV001261273
NM_003482.4(KMT2D):c.9022G>T (p.Glu3008Ter)	SNV Unknown	Chr12:49038334	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1943323180	1 SubmittersRCV001261272
NM_003482.4(KMT2D):c.8780C>G (p.Ser2927Ter)	SNV Germline	Chr12:49038576	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1943336569	1 SubmittersRCV001261350
NM_003482.4(KMT2D):c.8263A>T (p.Lys2755Ter)	SNV Germline	Chr12:49039325	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1943374805	1 SubmittersRCV001261349
NM_003482.4(KMT2D):c.6962T>G (p.Leu2321Ter)	SNV Unknown	Chr12:49040808	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1943478443	1 SubmittersRCV001261268
NM_003482.4(KMT2D):c.6622C>T (p.Gln2208Ter)	SNV Germline	Chr12:49041148	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1943503824	1 SubmittersRCV001261267
NM_003482.4(KMT2D):c.6183G>A (p.Leu2061=)	SNV Germline	Chr12:49041917	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1943551792	1 SubmittersRCV001261329
NM_003482.4(KMT2D):c.5983G>T (p.Gly1995Ter)	SNV Germline	Chr12:49042215	Likely pathogenic	Kabuki syndrome 1 Condition: not provided	Criteria Provided Single Submitter		rs_1393276376	2 SubmittersRCV001261328 RCV003145498
NM_003482.4(KMT2D):c.5764C>T (p.Gln1922Ter)	SNV Germline	Chr12:49042759	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1943600170	1 SubmittersRCV001261265
NM_003482.4(KMT2D):c.4520G>A (p.Cys1507Tyr)	SNV Germline	Chr12:49046323	Likely pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1943783240	1 SubmittersRCV001261326
NM_003482.4(KMT2D):c.4359C>A (p.His1453Gln)	SNV Germline	Chr12:49046668	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_767737749	1 SubmittersRCV001261263
NM_003482.4(KMT2D):c.4171G>A (p.Glu1391Lys)	SNV Unknown	Chr12:49048030	Likely pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1937658910	1 SubmittersRCV001261262
NM_003482.4(KMT2D):c.4093G>T (p.Val1365Phe)	SNV Germline	Chr12:49048697	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided		rs_1937710190	1 SubmittersRCV001261261
NM_001291415.2(KDM6A):c.514C>T (p.Arg172Ter)	SNV Germline	ChrX:45020680	Pathogenic	Kabuki syndrome 2	Criteria Provided Single Submitter		rs_189751539	2 SubmittersRCV001261239
NM_001291415.2(KDM6A):c.2230C>T (p.Gln744Ter)	SNV Germline	ChrX:45069729	Pathogenic	Kabuki syndrome 2	No Assertion Criteria Provided		rs_2044726547	1 SubmittersRCV001261234
NM_001291415.2(KDM6A):c.3229A>G (p.Ser1077Gly)	SNV Germline	ChrX:45079280	Likely pathogenic	Kabuki syndrome 2	No Assertion Criteria Provided		rs_2045279014	1 SubmittersRCV001261236
NM_003482.4(KMT2D):c.859A>G (p.Lys287Glu)	SNV Germline	Chr12:49053302	Conflicting classifications of pathogenicity	Kabuki syndrome Kabuki syndrome 1 KMT2D-related disorder Condition: not provided	Criteria Provided Conflicting Classifications		rs_375915416	5 SubmittersRCV001363670 RCV001262241 RCV004758786 RCV003135900

NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His)

SNV
Germline

Chr12:49026430

Pathogenic/Likely pathogenic

Kabuki syndrome 1
Condition: not provided
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA254197

rs_267607237

7 SubmittersRCV000007972 RCV000723481 RCV001043636

NM_003482.4(KMT2D):c.13579A>T (p.Lys4527Ter)

SNV
Germline

Chr12:49030985

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

CA254198

rs_267607240

1 SubmittersRCV000007973

NM_003482.4(KMT2D):c.16360C>T (p.Arg5454Ter)

SNV
Germline

Chr12:49022332

Pathogenic

Kabuki syndrome 1
Inborn genetic diseases
Condition: not provided
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA254200

rs_267607239

6 SubmittersRCV000007974 RCV001265824 RCV003147277 RCV003588558

NM_003482.4(KMT2D):c.16391C>T (p.Thr5464Met)

SNV
Germline

Chr12:49022301

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA234161

rs_267607238

3 SubmittersRCV000007975 RCV000153405 RCV003588559

NM_001291415.2(KDM6A):c.3873G>A (p.Trp1291Ter)

SNV
Germline

ChrX:45089911

Pathogenic

Kabuki syndrome 2

No Assertion Criteria Provided

CA130681

rs_398122929

1 SubmittersRCV000033119

NM_001291415.2(KDM6A):c.1711C>T (p.Arg571Ter)

SNV
Germline

ChrX:45063449

Pathogenic

Kabuki syndrome 2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA130685

rs_397514628

3 SubmittersRCV000033120 RCV002513317 RCV004719670

NM_003482.4(KMT2D):c.11037A>G (p.Gln3679=)

SNV
Germline

Chr12:49033668

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA221987

rs_374418866

5 SubmittersRCV000243755 RCV000723490 RCV002055148

NM_003482.4(KMT2D):c.1112+19C>T

SNV
Germline

Chr12:49052896

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA221989

rs_398123703

3 SubmittersRCV000080107 RCV001520140

NM_003482.4(KMT2D):c.11149C>T (p.Gln3717Ter)

SNV
Germline

Chr12:49033556

Pathogenic

Condition: not provided
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA221990

rs_398123704

2 SubmittersRCV000177989 RCV001854411

NM_003482.4(KMT2D):c.11150A>C (p.Gln3717Pro)

SNV
Germline

Chr12:49033555

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome 1
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA221992

rs_398123705

4 SubmittersRCV000080110 RCV000763853 RCV001854412 RCV004537340

NM_003482.4(KMT2D):c.11692C>T (p.Gln3898Ter)

SNV
Germline

Chr12:49033013

Pathogenic/Likely pathogenic

Kabuki syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA221995

rs_398123708

3 SubmittersRCV000177985 RCV000790792

NM_003482.4(KMT2D):c.1187C>G (p.Pro396Arg)

SNV
Germline

Chr12:49052635

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
not specified
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA221999

rs_377452989

5 SubmittersRCV000080116 RCV000330812 RCV001818244 RCV004542763

NM_003482.4(KMT2D):c.12172A>G (p.Met4058Val)

SNV
Germline

Chr12:49032533

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA222001

rs_398123710

4 SubmittersRCV000080118 RCV000723524 RCV002498409 RCV003588574

NM_003482.4(KMT2D):c.12579G>A (p.Thr4193=)

SNV
Germline

Chr12:49032126

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA222007

rs_398123713

2 SubmittersRCV000080122 RCV002514408

NM_003482.4(KMT2D):c.12712C>T (p.Arg4238Cys)

SNV
Germline

Chr12:49031993

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA222009

rs_398123714

4 SubmittersRCV000080123 RCV000347513 RCV004537342

NM_003482.4(KMT2D):c.13587C>A (p.Ser4529Arg)

SNV
Germline

Chr12:49030977

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA222013

rs_398123717

2 SubmittersRCV000080129 RCV003753085

NM_003482.4(KMT2D):c.14185C>T (p.Arg4729Trp)

SNV
Germline

Chr12:49029127

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA222017

rs_398123719

3 SubmittersRCV000080134 RCV001344020 RCV004758637

NM_003482.4(KMT2D):c.14710C>T (p.Arg4904Ter)

SNV
Germline

Chr12:49027256

Pathogenic

Kabuki syndrome 1
Kabuki syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA222020

rs_398123721

8 SubmittersRCV000146172 RCV000688592 RCV002243708

NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys)

SNV
Germline

Chr12:49026824

Pathogenic

Condition: not provided
Kabuki syndrome 1
Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA222027

rs_398123724

8 SubmittersRCV000080143 RCV000172955 RCV000638430 RCV002514409

NM_003482.4(KMT2D):c.15273G>A (p.Lys5091=)

SNV
Germline

Chr12:49026693

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA222033

rs_398123727

3 SubmittersRCV000080146 RCV002055150

NM_003482.4(KMT2D):c.15641G>A (p.Arg5214His)

SNV
Germline

Chr12:49026325

Pathogenic/Likely pathogenic

Condition: not provided
Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA222037

rs_398123729

4 SubmittersRCV000178659 RCV000824832 RCV001854414

NM_003482.4(KMT2D):c.16295G>A (p.Arg5432Gln)

SNV
Germline

Chr12:49022633

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome 1

Criteria Provided
Conflicting Classifications

CA222044

rs_398123734

2 SubmittersRCV000080154 RCV000659832

NM_003482.4(KMT2D):c.1797G>A (p.Leu599=)

SNV
Germline

Chr12:49051886

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA222047

rs_113282510

5 SubmittersRCV000080157 RCV000304834 RCV004537343

NM_003482.4(KMT2D):c.1859C>G (p.Pro620Arg)

SNV
Germline

Chr12:49051824

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA222049

rs_369076375

2 SubmittersRCV000080158 RCV002515768

NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln)

SNV
Germline

Chr12:49051743

Conflicting classifications of pathogenicity

Kabuki syndrome
Kabuki syndrome 1
Condition: not provided
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA222051

rs_200088180

7 SubmittersRCV000339875 RCV000521303 RCV000723520 RCV004542764

NM_003482.4(KMT2D):c.2214C>T (p.Ser738=)

SNV
Germline

Chr12:49051469

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA222053

rs_201219613

4 SubmittersRCV000080161 RCV001088525 RCV004542765

NM_003482.4(KMT2D):c.2373G>A (p.Gln791=)

SNV
Germline

Chr12:49051310

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA222056

rs_398123737

2 SubmittersRCV000080163 RCV002055151

NM_003482.4(KMT2D):c.2547G>A (p.Ser849=)

SNV
Germline

Chr12:49051136

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA222060

rs_398123738

3 SubmittersRCV000080167 RCV002055152 RCV004537344

NM_003482.4(KMT2D):c.2582C>G (p.Ser861Cys)

SNV
Germline

Chr12:49051101

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA222062

rs_398123739

2 SubmittersRCV000080168 RCV002515769

NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr)

SNV
Germline

Chr12:49050596

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome
Condition: not provided
Kabuki syndrome 1
Kabuki syndrome 1
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Inborn genetic diseases
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA160507

rs_143711798

11 SubmittersRCV000121380 RCV000365620 RCV000723541 RCV002055153 RCV003224138 RCV004019552 RCV004537346

NM_003482.4(KMT2D):c.4056G>A (p.Glu1352=)

SNV
Germline

Chr12:49048734

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA222073

rs_373063485

2 SubmittersRCV000080178 RCV002055154

NM_003482.4(KMT2D):c.477T>G (p.Gly159=)

SNV
Germline

Chr12:49054340

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA222081

rs_398123747

2 SubmittersRCV000080183 RCV000539363

NM_003482.4(KMT2D):c.4986C>T (p.Cys1662=)

SNV
Germline

Chr12:49044500

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA222083

rs_143063879

7 SubmittersRCV000080184 RCV000723476 RCV001517882 RCV004537348

NM_003482.4(KMT2D):c.5124A>G (p.Thr1708=)

SNV
Germline

Chr12:49044264

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA222086

rs_374724784

4 SubmittersRCV000080188 RCV002055155 RCV004542768

NM_003482.4(KMT2D):c.5319+3G>A

SNV
Germline

Chr12:49043865

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
Inborn genetic diseases
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA222088

rs_372897046

5 SubmittersRCV000080190 RCV000691833 RCV002514410 RCV004537349

NM_003482.4(KMT2D):c.6264C>T (p.Thr2088=)

SNV
Germline

Chr12:49041506

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
not specified
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA222092

rs_370414767

6 SubmittersRCV000080197 RCV001494744 RCV003150943 RCV004542769

NM_003482.4(KMT2D):c.6354C>T (p.Pro2118=)

SNV
Germline

Chr12:49041416

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA222096

rs_377392943

7 SubmittersRCV000263883 RCV000723517 RCV004542770

NM_003482.4(KMT2D):c.6435G>A (p.Pro2145=)

SNV
Germline

Chr12:49041335

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA222098

rs_374077422

4 SubmittersRCV000712309 RCV001088718 RCV004537350

NM_003482.4(KMT2D):c.6699C>T (p.Thr2233=)

SNV
Germline

Chr12:49041071

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA222101

rs_398123754

2 SubmittersRCV000080204 RCV002055156

NM_003482.4(KMT2D):c.6752C>T (p.Ser2251Leu)

SNV
Germline

Chr12:49041018

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome
Kabuki syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA147701

rs_189199944

8 SubmittersRCV000080205 RCV000408005 RCV000659741 RCV000858851

NM_003482.4(KMT2D):c.7035G>A (p.Leu2345=)

SNV
Germline

Chr12:49040735

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA172434

rs_398123756

5 SubmittersRCV000146228 RCV000723594 RCV001084575 RCV004537351

NM_003482.4(KMT2D):c.756C>T (p.His252=)

SNV
Germline

Chr12:49053559

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA222108

rs_398123759

2 SubmittersRCV000080212 RCV002055157

NM_003482.4(KMT2D):c.7839G>A (p.Pro2613=)

SNV
Germline

Chr12:49039931

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA222112

rs_370627714

2 SubmittersRCV000080215 RCV002055158

NM_003482.4(KMT2D):c.8288C>T (p.Pro2763Leu)

SNV
Germline

Chr12:49039300

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA222116

rs_398123762

4 SubmittersRCV000080222 RCV001399288 RCV004537353

NM_003482.4(KMT2D):c.8774C>T (p.Ala2925Val)

SNV
Germline

Chr12:49038582

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome
Kabuki syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA147715

rs_199547661

11 SubmittersRCV000080223 RCV000264206 RCV000659769 RCV001529421

NM_003482.4(KMT2D):c.2222C>T (p.Pro741Leu)

SNV
Germline

Chr12:49051461

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA160495

rs_587778453

5 SubmittersRCV000121374 RCV000731418 RCV001484196 RCV004530006

NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu)

SNV
Germline

Chr12:49050196

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome 1
Kabuki syndrome
Condition: not provided
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA160509

rs_201623566

10 SubmittersRCV000121381 RCV000988841 RCV001521913 RCV001594848 RCV004530008

NM_003482.4(KMT2D):c.5129C>T (p.Thr1710Met)

SNV
Germline

Chr12:49044259

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA160517

rs_587778457

3 SubmittersRCV000121385 RCV002055346 RCV004528828

NM_003482.4(KMT2D):c.5207C>G (p.Pro1736Arg)

SNV
Germline

Chr12:49043980

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA160519

rs_587778458

3 SubmittersRCV000121386 RCV001838982 RCV001854636

NM_003482.4(KMT2D):c.5504G>T (p.Arg1835Leu)

SNV
Germline

Chr12:49043392

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA160525

rs_368134008

3 SubmittersRCV000121389 RCV003133136 RCV003753089

NM_003482.4(KMT2D):c.5546G>A (p.Gly1849Glu)

SNV
Germline

Chr12:49043174

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA160527

rs_587778459

3 SubmittersRCV000121390 RCV002055348 RCV004528829

NM_003482.4(KMT2D):c.305G>A (p.Ser102Asn)

SNV
Germline

Chr12:49054623

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA160535

rs_368471915

3 SubmittersRCV000121394 RCV000659688 RCV003588576

NM_003482.4(KMT2D):c.6392C>A (p.Thr2131Asn)

SNV
Germline

Chr12:49041378

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome 1
Kabuki syndrome
KMT2D-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA160539

rs_587778463

5 SubmittersRCV000121396 RCV001781462 RCV002055349 RCV004530010 RCV004639140

NM_003482.4(KMT2D):c.6284G>A (p.Arg2095His)

SNV
Germline

Chr12:49041486

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome 1
Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA160553

rs_374216845

4 SubmittersRCV000121403 RCV000763857 RCV000767217 RCV001854641

NM_003482.4(KMT2D):c.7229G>A (p.Arg2410Gln)

SNV
Germline

Chr12:49040541

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA160559

rs_587778466

5 SubmittersRCV000121406 RCV000440700 RCV002515875 RCV004528831

NM_003482.4(KMT2D):c.7705G>A (p.Gly2569Ser)

SNV
Germline

Chr12:49040065

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome 1
Kabuki syndrome
Condition: not provided
Kabuki syndrome 1
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

Criteria Provided
Conflicting Classifications

CA160561

rs_201507971

6 SubmittersRCV000121407 RCV000659757 RCV000945876 RCV001657764 RCV003224159

NM_003482.4(KMT2D):c.8006T>G (p.Met2669Arg)

SNV
Germline

Chr12:49039764

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA160571

rs_372520829

4 SubmittersRCV000121412 RCV001289094 RCV001498880

NM_003482.4(KMT2D):c.9662C>A (p.Thr3221Asn)

SNV
Germline

Chr12:49037694

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Kabuki syndrome
Inborn genetic diseases
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA160581

rs_200601717

6 SubmittersRCV000121417 RCV000224122 RCV001087749 RCV002515876 RCV004530011

NM_003482.4(KMT2D):c.9482T>C (p.Met3161Thr)

SNV
Germline

Chr12:49037874

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA160585

rs_199831827

4 SubmittersRCV000121419 RCV000726082 RCV001854643

NM_003482.4(KMT2D):c.10966C>T (p.Arg3656Cys)

SNV
Germline

Chr12:49033739

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Kabuki syndrome
Kabuki syndrome 1

Criteria Provided
Conflicting Classifications

CA160589

rs_201283589

6 SubmittersRCV000121421 RCV000726604 RCV001501324 RCV004584608

NM_003482.4(KMT2D):c.10993C>G (p.Pro3665Ala)

SNV
Germline

Chr12:49033712

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome 1
Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA160591

rs_112170602

8 SubmittersRCV000121422 RCV000146150 RCV000377054 RCV000513704

NM_003482.4(KMT2D):c.13009C>G (p.Pro4337Ala)

SNV
Germline

Chr12:49031696

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA160597

rs_587778475

4 SubmittersRCV000121425 RCV001498479 RCV001818292

NM_003482.4(KMT2D):c.13582G>A (p.Ala4528Thr)

SNV
Germline

Chr12:49030982

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA160615

rs_587778480

3 SubmittersRCV000121434 RCV001854646 RCV004530012

NM_003482.4(KMT2D):c.14080G>C (p.Glu4694Gln)

SNV
Germline

Chr12:49029232

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome 1
Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA160623

rs_587778483

5 SubmittersRCV000121438 RCV000659812 RCV000872102 RCV001514713

NM_003482.4(KMT2D):c.15671G>A (p.Arg5224His)

SNV
Germline

Chr12:49026295

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome 1
Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA160631

rs_3782356

5 SubmittersRCV000121442 RCV000146178 RCV000285985 RCV000514629

NM_003482.4(KMT2D):c.15797G>A (p.Arg5266His)

SNV
Germline

Chr12:49024934

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome 1
Kabuki syndrome
Condition: not provided
Inborn genetic diseases
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA160633

rs_201481646

10 SubmittersRCV000121443 RCV000659829 RCV000865112 RCV001705895 RCV002515877 RCV004542884

NM_003482.4(KMT2D):c.553C>T (p.Arg185Cys)

SNV
Germline

Chr12:49054098

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA160635

rs_201796530

3 SubmittersRCV000121444 RCV001496616

NM_003482.4(KMT2D):c.16413G>T (p.Arg5471Ser)

SNV
Germline

Chr12:49022151

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA271613

rs_587783702

1 SubmittersRCV000146184

NM_003482.4(KMT2D):c.16412+13G>A

SNV
Germline

Chr12:49022267

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA271612

rs_587783701

2 SubmittersRCV000146183 RCV003753092

NM_003482.4(KMT2D):c.16411A>T (p.Arg5471Trp)

SNV
Germline

Chr12:49022281

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA271610

rs_587783700

1 SubmittersRCV000146182

NM_003482.4(KMT2D):c.15943C>T (p.Gln5315Ter)

SNV
Germline

Chr12:49024687

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA271608

rs_587783699

1 SubmittersRCV000146181

NM_003482.4(KMT2D):c.15844C>T (p.Arg5282Ter)

SNV
Germline

Chr12:49024887

Pathogenic

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA271606

rs_587783698

3 SubmittersRCV000146180 RCV001849983

NM_003482.4(KMT2D):c.15791G>A (p.Trp5264Ter)

SNV
Germline/somatic

Chr12:49024940

Pathogenic

Kabuki syndrome 1
Neoplasm

Criteria Provided
Single Submitter

CA271604

rs_587783697

2 SubmittersRCV000146179 RCV004668806

NM_003482.4(KMT2D):c.15195G>A (p.Trp5065Ter)

SNV
Germline

Chr12:49026771

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA271598

rs_587783696

1 SubmittersRCV000146175

NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter)

SNV
Germline

Chr12:49026905

Pathogenic/Likely pathogenic

Kabuki syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA234164

rs_587783695

9 SubmittersRCV000146174 RCV000790679

NM_003482.4(KMT2D):c.14840C>A (p.Pro4947His)

SNV
Germline

Chr12:49027126

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA271596

rs_587783694

3 SubmittersRCV000146173 RCV001849982 RCV004758648

NM_003482.4(KMT2D):c.13606C>T (p.Arg4536Ter)

SNV
Germline

Chr12:49030958

Pathogenic

Kabuki syndrome 1
Kabuki syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA271593

rs_587783692

5 SubmittersRCV000146170 RCV000549081 RCV000724642

NM_003482.4(KMT2D):c.13450C>T (p.Arg4484Ter)

SNV
Germline

Chr12:49031255

Pathogenic

Kabuki syndrome 1
Inborn genetic diseases
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA271590

rs_587783690

4 SubmittersRCV000146168 RCV000622817 RCV003753091

NM_003482.4(KMT2D):c.12962C>A (p.Ser4321Ter)

SNV
Germline

Chr12:49031743

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA271585

rs_587783688

1 SubmittersRCV000146164

NM_003482.4(KMT2D):c.12592C>T (p.Arg4198Ter)

SNV
Germline

Chr12:49032113

Pathogenic

Kabuki syndrome 1
Inborn genetic diseases
Kabuki syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA271579

rs_587783685

7 SubmittersRCV000146159 RCV000624920 RCV000707588 RCV001548390

NM_003482.4(KMT2D):c.12270G>A (p.Gln4090=)

SNV
Germline

Chr12:49032435

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA271577

rs_370665309

3 SubmittersRCV000146158 RCV002055894 RCV004532653

NM_003482.4(KMT2D):c.11886A>G (p.Gln3962=)

SNV
Germline

Chr12:49032819

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome
Condition: not provided
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA271575

rs_180784366

5 SubmittersRCV000146157 RCV000951954 RCV001707534 RCV004544340

NM_003482.4(KMT2D):c.11290C>T (p.Gln3764Ter)

SNV
Germline

Chr12:49033415

Pathogenic/Likely pathogenic

Kabuki syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA271570

rs_587783682

3 SubmittersRCV000146153 RCV004719714

NM_003482.4(KMT2D):c.11263C>T (p.Gln3755Ter)

SNV
Germline

Chr12:49033442

Pathogenic

Kabuki syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA271568

rs_587783681

2 SubmittersRCV000146152

NM_003482.4(KMT2D):c.11043G>A (p.Gln3681=)

SNV
Germline

Chr12:49033662

Conflicting classifications of pathogenicity

Kabuki syndrome
Kabuki syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA245010

rs_371444130

4 SubmittersRCV002055893 RCV000146151 RCV000177997

NM_003482.4(KMT2D):c.10444C>T (p.Arg3482Trp)

SNV
Germline

Chr12:49034473

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA271566

rs_201127814

4 SubmittersRCV000146149 RCV002225451 RCV002055892 RCV004544339

NM_003482.4(KMT2D):c.10312G>A (p.Val3438Met)

SNV
Germline

Chr12:49034855

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA271564

rs_35087111

2 SubmittersRCV000146148 RCV001857511

NM_003482.4(KMT2D):c.9491G>A (p.Arg3164Gln)

SNV
Germline

Chr12:49037865

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA172442

rs_587783730

2 SubmittersRCV000146242 RCV002515964

NM_003482.4(KMT2D):c.8743C>T (p.Arg2915Ter)

SNV
Germline

Chr12:49038613

Pathogenic/Likely pathogenic

Kabuki syndrome 1
Kabuki syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA271664

rs_587783729

6 SubmittersRCV000146240 RCV001857516 RCV004821984

NM_003482.4(KMT2D):c.8053C>T (p.Arg2685Ter)

SNV
Germline

Chr12:49039611

Pathogenic/Likely pathogenic

Kabuki syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA271659

rs_587783727

4 SubmittersRCV000146236 RCV004589639

NM_003482.4(KMT2D):c.7198C>G (p.Pro2400Ala)

SNV
Germline

Chr12:49040572

Conflicting classifications of pathogenicity

Kabuki syndrome 1
not specified
Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA271657

rs_35111108

4 SubmittersRCV000146231 RCV000516606 RCV001501756 RCV001657838

NM_003482.4(KMT2D):c.7170G>A (p.Pro2390=)

SNV
Germline

Chr12:49040600

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA271655

rs_3741625

2 SubmittersRCV000146229 RCV001857515

NM_003482.4(KMT2D):c.6844C>T (p.Arg2282Trp)

SNV
Germline

Chr12:49040926

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA271653

rs_587783726

3 SubmittersRCV000146227 RCV001338541 RCV004691765

NM_003482.4(KMT2D):c.6807C>T (p.Ser2269=)

SNV
Germline

Chr12:49040963

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA180144

rs_73302197

6 SubmittersRCV000153415 RCV001711587 RCV000146226 RCV000343763

NM_003482.4(KMT2D):c.6733C>G (p.Leu2245Val)

SNV
Germline

Chr12:49041037

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome
Kabuki syndrome 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA202514

rs_201931833

8 SubmittersRCV000177545 RCV000289783 RCV000659740 RCV001705946 RCV004984680

NM_003482.4(KMT2D):c.6640G>A (p.Ala2214Thr)

SNV
Germline

Chr12:49041130

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA271650

rs_587783724

4 SubmittersRCV000146223 RCV001857514 RCV004758649

NM_003482.4(KMT2D):c.6126C>A (p.Cys2042Ter)

SNV
Germline

Chr12:49041974

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA271648

rs_556669370

1 SubmittersRCV000146220

NM_003482.4(KMT2D):c.4421G>A (p.Cys1474Tyr)

SNV
Germline

Chr12:49046422

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA271644

rs_587783718

4 SubmittersRCV000146214 RCV000276560 RCV001857513 RCV004730884

NM_003482.4(KMT2D):c.4418+5G>A

SNV
Germline

Chr12:49046604

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA271643

rs_587783717

2 SubmittersRCV000146213 RCV004019769

NM_003482.4(KMT2D):c.4123C>T (p.Leu1375=)

SNV
Germline

Chr12:49048667

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA271636

rs_1368572

3 SubmittersRCV000146208 RCV001449194 RCV004532656

NM_003482.4(KMT2D):c.3553C>T (p.Gln1185Ter)

SNV
Germline

Chr12:49050035

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA271628

rs_587783712

1 SubmittersRCV000146201

NM_003482.4(KMT2D):c.3121C>T (p.Gln1041Ter)

SNV
Germline

Chr12:49050467

Pathogenic

Kabuki syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA271626

rs_587783711

2 SubmittersRCV000146200 RCV000724644

NM_003482.4(KMT2D):c.2506C>A (p.Gln836Lys)

SNV
Germline

Chr12:49051177

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome 1
Kabuki syndrome
Condition: not provided
Kabuki syndrome 1
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

Criteria Provided
Conflicting Classifications

CA172422

rs_200192746

6 SubmittersRCV000146196 RCV000659703 RCV001404137 RCV001709495 RCV003224166

NM_003482.4(KMT2D):c.2232A>C (p.Ser744=)

SNV
Germline

Chr12:49051451

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome
Condition: not provided
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA172419

rs_200155807

5 SubmittersRCV000146193 RCV002055897 RCV000725951 RCV004544341

NM_003482.4(KMT2D):c.1813G>T (p.Glu605Ter)

SNV
Germline

Chr12:49051870

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA271618

rs_587783705

1 SubmittersRCV000146187

NM_003482.4(KMT2D):c.400+1G>C

SNV
Germline

Chr12:49054527

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA271633

rs_587783714

1 SubmittersRCV000146205

NM_003482.4(KMT2D):c.256G>T (p.Glu86Ter)

SNV
Germline

Chr12:49054672

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA271622

rs_587783708

1 SubmittersRCV000146197

NM_001291415.2(KDM6A):c.4208G>A (p.Arg1403Gln)

SNV
Germline

ChrX:45110125

Conflicting classifications of pathogenicity

Kabuki syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA172363

rs_370765411

4 SubmittersRCV000146127 RCV000176888

NM_003482.4(KMT2D):c.7109G>A (p.Arg2370His)

SNV
Germline

Chr12:49040661

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome 1
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA234176

rs_373234419

4 SubmittersRCV000153414 RCV000763855 RCV002056034 RCV004758655

NM_003482.4(KMT2D):c.15256C>T (p.Arg5086Ter)

SNV
Germline

Chr12:49026710

Pathogenic

Condition: not provided
Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA234162

rs_727503979

8 SubmittersRCV000153407 RCV000178657 RCV003588580

NM_003482.4(KMT2D):c.3754C>T (p.Arg1252Ter)

SNV
Germline

Chr12:49049834

Pathogenic

Kabuki syndrome 1
Condition: not provided
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA234183

rs_727503987

6 SubmittersRCV000174080 RCV000790774 RCV001850095

NM_003482.4(KMT2D):c.8488C>T (p.Arg2830Ter)

SNV
Germline

Chr12:49038868

Pathogenic

Condition: not provided
Kabuki syndrome
Kabuki syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA234172

rs_727503983

5 SubmittersRCV000177775 RCV001045940 RCV001254175

NM_003482.4(KMT2D):c.1378C>A (p.Pro460Thr)

SNV
Germline

Chr12:49052305

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA234189

rs_201089405

3 SubmittersRCV000153423 RCV001405909 RCV004544397

NM_003482.4(KMT2D):c.13797G>A (p.Ala4599=)

SNV
Germline

Chr12:49030643

Conflicting classifications of pathogenicity

Condition: not provided
KMT2D-related disorder
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA234166

rs_727503980

3 SubmittersRCV000153409 RCV004544394 RCV003753096

NM_003482.4(KMT2D):c.6456C>T (p.Gly2152=)

SNV
Germline

Chr12:49041314

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA234178

rs_727503985

3 SubmittersRCV000153416 RCV001078593 RCV004532726

NM_003482.4(KMT2D):c.3906+20C>T

SNV
Germline

Chr12:49049662

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA234182

rs_375504464

3 SubmittersRCV000153418 RCV002056035

NM_003482.4(KMT2D):c.1488G>A (p.Pro496=)

SNV
Germline

Chr12:49052195

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA234187

rs_534236560

3 SubmittersRCV000153422 RCV002514956 RCV004544396

NM_003482.4(KMT2D):c.16413-1G>C

SNV
Unknown

Chr12:49022152

Likely pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

CA274868

rs_793888515

1 SubmittersRCV000172953

NM_003482.4(KMT2D):c.14659G>T (p.Glu4887Ter)

SNV
Unknown

Chr12:49027307

Likely pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

CA274864

rs_793888513

1 SubmittersRCV000172949

NM_003482.4(KMT2D):c.12688C>T (p.Gln4230Ter)

SNV
Germline

Chr12:49032017

Likely pathogenic

Kabuki syndrome 1
Condition: not provided

Criteria Provided
Single Submitter

CA274860

rs_793888511

2 SubmittersRCV000172947 RCV004719722

NM_003482.4(KMT2D):c.9961C>T (p.Arg3321Ter)

SNV
Germline

Chr12:49037395

Pathogenic

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Single Submitter

CA274862

rs_793888512

3 SubmittersRCV000172948 RCV001850286

NM_001291415.2(KDM6A):c.752G>A (p.Trp251Ter)

SNV
Unknown

ChrX:45053832

Likely pathogenic

Kabuki syndrome 2

No Assertion Criteria Provided

CA200205

rs_793888509

1 SubmittersRCV000172945

NM_001291415.2(KDM6A):c.3892+2T>C

SNV
Unknown

ChrX:45089932

Likely pathogenic

Kabuki syndrome 2

No Assertion Criteria Provided

CA200209

rs_793888510

1 SubmittersRCV000172946

NM_003482.4(KMT2D):c.11395C>T (p.Gln3799Ter)

SNV
Germline

Chr12:49033310

Likely pathogenic

Condition: not provided
Kabuki syndrome 1

Criteria Provided
Single Submitter

CA235884

rs_786205478

2 SubmittersRCV000171213 RCV002293240

NM_003482.4(KMT2D):c.2368C>T (p.Pro790Ser)

SNV
Germline

Chr12:49051315

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
Kabuki syndrome 1

Criteria Provided
Conflicting Classifications

CA239236

rs_376911077

4 SubmittersRCV000173778 RCV002516599 RCV002492730

NM_003482.4(KMT2D):c.3889C>T (p.Arg1297Cys)

SNV
Germline

Chr12:49049699

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
Kabuki syndrome 1
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA239552

rs_746084513

4 SubmittersRCV000174077 RCV001316081 RCV003224188 RCV004758660

NM_003482.4(KMT2D):c.4642G>A (p.Asp1548Asn)

SNV
Germline

Chr12:49046116

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA240880

rs_774736686

3 SubmittersRCV000175174 RCV001852141

NM_003482.4(KMT2D):c.5677C>T (p.Gln1893Ter)

SNV
Germline

Chr12:49042846

Pathogenic

Condition: not provided
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA275138

rs_794727420

2 SubmittersRCV000176652 RCV001201615

NM_003482.4(KMT2D):c.6204G>A (p.Arg2068=)

SNV
Germline

Chr12:49041685

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA243643

rs_532098737

3 SubmittersRCV000177462 RCV002054091 RCV004539651

NM_003482.4(KMT2D):c.6235-6C>G

SNV
Germline

Chr12:49041541

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
not specified
Kabuki syndrome 1
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA243748

rs_373858319

6 SubmittersRCV000177539 RCV001078907 RCV001818429 RCV003224193 RCV004537433

NM_003482.4(KMT2D):c.6649C>T (p.Arg2217Cys)

SNV
Germline

Chr12:49041121

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA243749

rs_770789888

2 SubmittersRCV000177540 RCV001362360

NM_003482.4(KMT2D):c.7201C>T (p.Arg2401Cys)

SNV
Germline

Chr12:49040569

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA243751

rs_748969699

3 SubmittersRCV000177541 RCV002516739

NM_003482.4(KMT2D):c.6739C>T (p.Pro2247Ser)

SNV
Germline

Chr12:49041031

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA243753

rs_794727547

3 SubmittersRCV000177542 RCV003588589 RCV004984721

NM_003482.4(KMT2D):c.6345C>T (p.Ser2115=)

SNV
Germline

Chr12:49041425

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA243755

rs_368856357

3 SubmittersRCV000177543 RCV001433557 RCV004537434

NM_003482.4(KMT2D):c.7301C>A (p.Ala2434Asp)

SNV
Germline

Chr12:49040469

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
Kabuki syndrome 1
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA243759

rs_201114196

5 SubmittersRCV000177546 RCV000358195 RCV000659750 RCV004539652

NM_003482.4(KMT2D):c.7046C>T (p.Pro2349Leu)

SNV
Germline

Chr12:49040724

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome 1
Kabuki syndrome
Condition: not provided
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA202516

rs_201581582

5 SubmittersRCV000177547 RCV000659746 RCV001522735 RCV001618333 RCV004537435

NM_003482.4(KMT2D):c.7903C>T (p.Arg2635Ter)

SNV
Germline

Chr12:49039867

Pathogenic

Condition: not provided
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA275202

rs_794727549

3 SubmittersRCV000177549 RCV002517716

NM_003482.4(KMT2D):c.8924G>A (p.Arg2975His)

SNV
Germline

Chr12:49038432

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA244676

rs_770885860

2 SubmittersRCV000177773 RCV002516752

NM_003482.4(KMT2D):c.9502A>G (p.Met3168Val)

SNV
Germline

Chr12:49037854

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA244678

rs_749463020

2 SubmittersRCV000177774 RCV001852199

NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=)

SNV
Germline

Chr12:49034934

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome
Kabuki syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA202646

rs_148688181

9 SubmittersRCV000177846 RCV000338854 RCV000659777 RCV001711466

NM_001291415.2(KDM6A):c.384+10C>T

SNV
Germline

ChrX:44974725

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome 2

Criteria Provided
Conflicting Classifications

CA245402

rs_767711383

2 SubmittersRCV000178330 RCV002517728

NM_003482.4(KMT2D):c.13588G>A (p.Asp4530Asn)

SNV
Germline

Chr12:49030976

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA245523

rs_768143170

4 SubmittersRCV000178430 RCV002054116 RCV004528949

NM_003482.4(KMT2D):c.15535C>T (p.Arg5179Cys)

SNV
Germline

Chr12:49026431

Pathogenic

Condition: not provided
Inborn genetic diseases
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA245837

rs_794727688

4 SubmittersRCV000178651 RCV000623497 RCV001852217

NM_003482.4(KMT2D):c.15230T>C (p.Leu5077Pro)

SNV
Germline

Chr12:49026736

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA245839

rs_398123726

2 SubmittersRCV000178654 RCV000702652

NM_003482.4(KMT2D):c.878C>T (p.Thr293Met)

SNV
Germline

Chr12:49053283

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA247172

rs_794727860

3 SubmittersRCV000179857 RCV002516802 RCV004639164

NM_003482.4(KMT2D):c.1149C>T (p.Asp383=)

SNV
Germline

Chr12:49052673

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
not specified
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA248085

rs_201709328

6 SubmittersRCV000724299 RCV001442610 RCV001818446 RCV004537513

NM_003482.4(KMT2D):c.4237-2A>C

SNV
Germline

Chr12:49046792

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

CA275965

rs_797045001

1 SubmittersRCV000190497

NM_003482.4(KMT2D):c.15079C>T (p.Arg5027Ter)

SNV
Germline

Chr12:49026887

Pathogenic

Kabuki syndrome 1
Condition: not provided
Inborn genetic diseases
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA277305

rs_797045659

8 SubmittersRCV000194362 RCV000484393 RCV001266906 RCV001382673

NM_003482.4(KMT2D):c.11845C>T (p.Gln3949Ter)

SNV
Germline

Chr12:49032860

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA277249

rs_797045658

1 SubmittersRCV000194043

NM_003482.4(KMT2D):c.11641A>G (p.Met3881Val)

SNV
Germline

Chr12:49033064

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA206526

rs_797045657

4 SubmittersRCV000193203 RCV001852558 RCV003389759

NM_003482.4(KMT2D):c.4182C>T (p.Leu1394=)

SNV
Germline

Chr12:49048019

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA209219

rs_797045665

2 SubmittersRCV000194801 RCV003753108

NM_003482.4(KMT2D):c.2533C>T (p.Arg845Trp)

SNV
Germline

Chr12:49051150

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome
Inborn genetic diseases
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA208189

rs_746841307

4 SubmittersRCV000194184 RCV000697204 RCV002517944 RCV004758667

NM_003482.4(KMT2D):c.1490C>T (p.Pro497Leu)

SNV
Germline

Chr12:49052193

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome
Condition: not provided
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA206392

rs_371421459

6 SubmittersRCV000193123 RCV001444865 RCV001576341 RCV004530128

NM_001291415.2(KDM6A):c.3791A>G (p.Gln1264Arg)

SNV
Germline

ChrX:45089829

Likely pathogenic

Kabuki syndrome 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA206562

rs_797045644

2 SubmittersRCV000193227 RCV000493253

NM_003482.4(KMT2D):c.11275C>T (p.Gln3759Ter)

SNV
Germline

Chr12:49033430

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA279042

rs_863224890

1 SubmittersRCV000200354

NM_001291415.2(KDM6A):c.3991C>T (p.Arg1331Ter)

SNV
Germline

ChrX:45090821

Pathogenic/Likely pathogenic

Kabuki syndrome 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278963

rs_863224886

4 SubmittersRCV000197668 RCV002262794

NM_014797.3(ZBTB24):c.146G>A (p.Arg49Gln)

SNV
Germline

Chr6:109481881

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome 1
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3954392

rs_147441359

6 SubmittersRCV000238885 RCV000578131 RCV000649294 RCV002292496

NM_003482.4(KMT2D):c.11770C>T (p.Gln3924Ter)

SNV
Germline

Chr12:49032935

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA10602722

rs_886041106

1 SubmittersRCV000258937

NM_003482.4(KMT2D):c.16501C>T (p.Arg5501Ter)

SNV
Germline

Chr12:49022063

Pathogenic

Kabuki syndrome 1
Condition: not provided
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10603301

rs_886041398

6 SubmittersRCV000578361 RCV000283712 RCV000557296

NM_003482.4(KMT2D):c.15143G>A (p.Arg5048His)

SNV
Germline

Chr12:49026823

Pathogenic/Likely pathogenic

Condition: not provided
Kabuki syndrome 1
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10603305

rs_886041404

9 SubmittersRCV000376655 RCV000505249 RCV001220983 RCV004535247

NM_003482.4(KMT2D):c.5707C>T (p.Arg1903Ter)

SNV
Germline

Chr12:49042816

Pathogenic

Condition: not provided
Kabuki syndrome
Kabuki syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10603310

rs_886041405

4 SubmittersRCV000284743 RCV001230659 RCV001249645

NM_003482.4(KMT2D):c.192G>A (p.Arg64=)

SNV
Germline

Chr12:49054736

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6548769

rs_375169999

2 SubmittersRCV000300231 RCV002059077

NM_003482.4(KMT2D):c.7934G>A (p.Arg2645Gln)

SNV
Germline

Chr12:49039836

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6546967

rs_375980443

2 SubmittersRCV000263871 RCV002519094

NM_003482.4(KMT2D):c.12039A>G (p.Gly4013=)

SNV
Germline

Chr12:49032666

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
not specified
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA6546259

rs_567323882

4 SubmittersRCV000271099 RCV001859551 RCV003151006 RCV004542994

NM_003482.4(KMT2D):c.7829T>C (p.Leu2610Pro)

SNV
Germline

Chr12:49039941

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA6546986

rs_200998047

4 SubmittersRCV000394346 RCV002059096 RCV004758681

NM_003482.4(KMT2D):c.5181C>T (p.Pro1727=)

SNV
Germline

Chr12:49044207

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6547611

rs_201686029

4 SubmittersRCV000334417 RCV000725010

NM_003482.4(KMT2D):c.3405A>G (p.Pro1135=)

SNV
Germline

Chr12:49050183

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA10604069

rs_886042311

2 SubmittersRCV000342265 RCV002518839

NM_003482.4(KMT2D):c.7629G>A (p.Gly2543=)

SNV
Germline

Chr12:49040141

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6547022

rs_201357509

2 SubmittersRCV000261275 RCV003588608

NM_003482.4(KMT2D):c.1010C>T (p.Ser337Leu)

SNV
Germline

Chr12:49053017

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA6548597

rs_200245957

6 SubmittersRCV000316534 RCV002519127 RCV003588609 RCV004535292

NM_003482.4(KMT2D):c.7109G>C (p.Arg2370Pro)

SNV
Germline

Chr12:49040661

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6547121

rs_373234419

4 SubmittersRCV000371888 RCV000555230 RCV000725339

NM_003482.4(KMT2D):c.3641G>A (p.Gly1214Asp)

SNV
Germline

Chr12:49049947

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA10604622

rs_886042736

2 SubmittersRCV000263647 RCV002518897

NM_003482.4(KMT2D):c.1779A>G (p.Pro593=)

SNV
Germline

Chr12:49051904

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA10604802

rs_886042877

2 SubmittersRCV000382903 RCV003588610

NM_001291415.2(KDM6A):c.2212C>T (p.Pro738Ser)

SNV
Germline

ChrX:45069711

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome 2
KDM6A-related disorder

Criteria Provided
Conflicting Classifications

CA10392483

rs_200638114

4 SubmittersRCV000377102 RCV002059156 RCV003947880

NM_003482.4(KMT2D):c.2551C>T (p.Leu851=)

SNV
Germline

Chr12:49051132

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA6548239

rs_186151848

4 SubmittersRCV000344376 RCV002059167 RCV004543056

NM_003482.4(KMT2D):c.840-6C>T

SNV
Germline

Chr12:49053327

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA6548635

rs_182926808

4 SubmittersRCV000309425 RCV002055058 RCV004543057

NM_003482.4(KMT2D):c.3813A>T (p.Leu1271=)

SNV
Germline

Chr12:49049775

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome
Condition: not provided
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA6547988

rs_201794205

5 SubmittersRCV000396358 RCV001498841 RCV003391043 RCV004758683

NM_003482.4(KMT2D):c.13871C>T (p.Ser4624Leu)

SNV
Germline

Chr12:49030408

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA10605272

rs_886043233

3 SubmittersRCV000405022 RCV000851303 RCV001859633

NM_003482.4(KMT2D):c.2847G>A (p.Pro949=)

SNV
Germline

Chr12:49050741

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA6548161

rs_369436545

5 SubmittersRCV000316495 RCV001444830 RCV004543082

NM_003482.4(KMT2D):c.5104C>T (p.Arg1702Ter)

SNV
Germline

Chr12:49044284

Pathogenic

Condition: not provided
Kabuki syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10605492

rs_886043414

4 SubmittersRCV000273130 RCV001332283

NM_003482.4(KMT2D):c.15461G>A (p.Arg5154Gln)

SNV
Germline

Chr12:49026505

Pathogenic/Likely pathogenic

Kabuki syndrome 1
Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10605587

rs_886043497

7 SubmittersRCV000594764 RCV000725904 RCV000808309 RCV004535373

NM_003482.4(KMT2D):c.8382C>A (p.Gly2794=)

SNV
Germline

Chr12:49038974

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6546838

rs_368967997

5 SubmittersRCV000265067 RCV001287103 RCV001403678

NM_003482.4(KMT2D):c.13898C>T (p.Ser4633Leu)

SNV
Germline

Chr12:49030381

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6545863

rs_373146997

2 SubmittersRCV000353239 RCV002521979

NM_003482.4(KMT2D):c.16522-4T>G

SNV
Germline

Chr12:49021876

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6545339

rs_779139301

3 SubmittersRCV000268029 RCV001087369 RCV004800376

NM_003482.4(KMT2D):c.14643+12G>A

SNV
Germline

Chr12:49027791

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome 1
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA6545697

rs_186670730

5 SubmittersRCV000337584 RCV001196888 RCV001523201 RCV004543129

NM_003482.4(KMT2D):c.5503C>T (p.Arg1835Cys)

SNV
Germline

Chr12:49043393

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA6547524

rs_371685892

3 SubmittersRCV000362351 RCV002519328 RCV004758684

NM_003482.4(KMT2D):c.5526T>C (p.Asp1842=)

SNV
Germline

Chr12:49043370

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA6547520

rs_137955659

5 SubmittersRCV000259370 RCV001083606 RCV004543133

NM_003482.4(KMT2D):c.6409A>G (p.Thr2137Ala)

SNV
Germline

Chr12:49041361

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA6547274

rs_543241831

5 SubmittersRCV000366916 RCV003114459 RCV004537611

NM_003482.4(KMT2D):c.5892G>A (p.Pro1964=)

SNV
Germline

Chr12:49042306

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6547400

rs_761930376

2 SubmittersRCV000370796 RCV003588611

NM_003482.4(KMT2D):c.9474G>C (p.Gln3158His)

SNV
Germline

Chr12:49037882

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
Inborn genetic diseases
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA6546688

rs_770522446

4 SubmittersRCV000368766 RCV001323700 RCV002522043 RCV004543150

NM_003482.4(KMT2D):c.15694A>G (p.Ile5232Val)

SNV
Germline

Chr12:49026272

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Condition: not provided
Kabuki syndrome
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Kabuki syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6545511

rs_199593058

5 SubmittersRCV000768006 RCV000733020 RCV001859847 RCV003224256 RCV002520810

NM_003482.4(KMT2D):c.11195A>G (p.Gln3732Arg)

SNV
Germline

Chr12:49033510

Conflicting classifications of pathogenicity

Kabuki syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_886049477

2 SubmittersRCV003752793 RCV004701797

NM_003482.4(KMT2D):c.5231G>A (p.Ser1744Asn)

SNV
Germline

Chr12:49043956

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_377119237

2 SubmittersRCV001754248 RCV002538731

NM_003482.4(KMT2D):c.4000T>G (p.Ser1334Ala)

SNV
Germline

Chr12:49049125

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_750081274

2 SubmittersRCV002033307 RCV004536365

NM_003482.4(KMT2D):c.2737G>A (p.Glu913Lys)

SNV
Germline

Chr12:49050946

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA6548199

rs_199724002

2 SubmittersRCV001346479 RCV004537742

NM_003482.4(KMT2D):c.4163G>T (p.Arg1388Leu)

SNV
Germline

Chr12:49048038

Conflicting classifications of pathogenicity

Kabuki syndrome
Kabuki syndrome 1
Condition: not provided
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA6547878

rs_202217665

5 SubmittersRCV000277260 RCV000659716 RCV001706470 RCV004544537

NM_003482.4(KMT2D):c.4865G>C (p.Gly1622Ala)

SNV
Germline

Chr12:49044842

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6547698

rs_377457393

2 SubmittersRCV001002444 RCV001859848

NM_003482.4(KMT2D):c.13259G>A (p.Arg4420Gln)

SNV
Germline

Chr12:49031446

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6546053

rs_375999143

3 SubmittersRCV002248517 RCV004639208 RCV001512878

NM_003482.4(KMT2D):c.13071G>C (p.Arg4357Ser)

SNV
Germline

Chr12:49031634

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_533214351

2 SubmittersRCV003588909 RCV004536662

NM_003482.4(KMT2D):c.10741-7A>G

SNV
Germline

Chr12:49033971

Conflicting classifications of pathogenicity

KMT2D-related disorder
Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6546437

rs_550510739

3 SubmittersRCV004537736 RCV000594856 RCV001521254

NM_006892.4(DNMT3B):c.1211A>G (p.Tyr404Cys)

SNV
Germline

Chr20:32795493

Conflicting classifications of pathogenicity

Immunodeficiency-centromeric instability-facial anomalies syndrome 1
Kabuki syndrome 1
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA9810462

rs_143462810

5 SubmittersRCV000371781 RCV000578148 RCV000859904 RCV001618596 RCV002265745

NM_003482.4(KMT2D):c.14075+1G>A

SNV
Germline

Chr12:49029400

Pathogenic/Likely pathogenic

Kabuki syndrome 1
Inborn genetic diseases
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10654764

rs_1057516039

4 SubmittersRCV000408635 RCV002524612 RCV002523836

NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter)

SNV
Germline/somatic

Chr12:49031861

Pathogenic

Condition: not provided
Kabuki syndrome 1
Multiple myeloma
Kabuki syndrome
KMT2D-related disorder
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA16042794

rs_1057517992

9 SubmittersRCV000413702 RCV000594502 RCV000984092 RCV003588627 RCV004530513 RCV004668916

NM_003482.4(KMT2D):c.7411C>T (p.Arg2471Ter)

SNV
Germline

Chr12:49040359

Pathogenic

Condition: not provided
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16042800

rs_1057518571

2 SubmittersRCV000414083 RCV000689855

NM_003482.4(KMT2D):c.2389C>G (p.Leu797Val)

SNV
Germline

Chr12:49051294

Likely pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

CA16043680

rs_1057518680

1 SubmittersRCV000414866

NM_003482.4(KMT2D):c.466G>T (p.Glu156Ter)

SNV
Germline

Chr12:49054351

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

CA16044357

rs_1057519422

1 SubmittersRCV000417038

NM_003482.4(KMT2D):c.10192A>C (p.Met3398Leu)

SNV
Germline

Chr12:49037164

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6546590

rs_75937132

2 SubmittersRCV000436939 RCV002061318

NM_001291415.2(KDM6A):c.3754C>T (p.Leu1252Phe)

SNV
Germline

ChrX:45089792

Likely pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

CA16609406

rs_1060499665

1 SubmittersRCV000449529

NM_003482.4(KMT2D):c.12661C>T (p.Gln4221Ter)

SNV
Germline

Chr12:49032044

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA16609417

rs_1060499669

1 SubmittersRCV000449566

NM_003482.4(KMT2D):c.10810C>T (p.Gln3604Ter)

SNV
Germline

Chr12:49033895

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

CA16616880

rs_1060499552

1 SubmittersRCV000477744

NM_003482.4(KMT2D):c.4148G>A (p.Cys1383Tyr)

SNV
Germline

Chr12:49048053

Pathogenic

Condition: not provided
Kabuki syndrome 1

Criteria Provided
Single Submitter

CA16619540

rs_1064794026

2 SubmittersRCV000479907 RCV001261325

NM_001197104.2(KMT2A):c.3019G>T (p.Gly1007Cys)

SNV
Germline

Chr11:118474178

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Wiedemann-Steiner syndrome

Criteria Provided
Conflicting Classifications

CA229522191

rs_940325244

2 SubmittersRCV000578132 RCV000988747

NM_001197104.2(KMT2A):c.5803-1G>A

SNV
Germline

Chr11:118498369

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA382798335

rs_1555044700

1 SubmittersRCV000578141

NM_003482.4(KMT2D):c.14515+1G>T

SNV
Unknown

Chr12:49028008

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384694833

rs_1555186232

1 SubmittersRCV000578147

NM_003482.4(KMT2D):c.12304C>T (p.Gln4102Ter)

SNV
Germline

Chr12:49032401

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384712242

rs_1555188129

1 SubmittersRCV000578136

NM_003482.4(KMT2D):c.12268C>T (p.Gln4090Ter)

SNV
Germline

Chr12:49032437

Pathogenic/Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA384712383

rs_1555188155

2 SubmittersRCV000578134

NM_003482.4(KMT2D):c.11800C>T (p.Gln3934Ter)

SNV
Unknown

Chr12:49032905

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384715238

rs_1555188469

1 SubmittersRCV000578144

NM_003482.4(KMT2D):c.185C>T (p.Pro62Leu)

SNV
Germline

Chr12:49054743

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6548774

rs_371342351

2 SubmittersRCV000578142 RCV003753126

NM_014727.3(KMT2B):c.7060G>A (p.Glu2354Lys)

SNV
Germline

Chr19:35733773

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9385844

rs_190929421

2 SubmittersRCV000578140 RCV002063861

NM_001291415.2(KDM6A):c.2988+1G>C

SNV
Germline

ChrX:45076827

Pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

CA412799348

rs_1135401809

1 SubmittersRCV000496172

NM_003482.4(KMT2D):c.14843C>G (p.Ser4948Ter)

SNV
Germline

Chr12:49027123

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384691553

rs_940178682

1 SubmittersRCV000498429

NM_003482.4(KMT2D):c.11515C>T (p.Gln3839Ter)

SNV
Germline

Chr12:49033190

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384718024

rs_1555188653

1 SubmittersRCV000497933

NM_003482.4(KMT2D):c.10784A>G (p.Tyr3595Cys)

SNV
Germline

Chr12:49033921

Pathogenic/Likely pathogenic

Kabuki syndrome 1
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA384726218

rs_1555189207

3 SubmittersRCV001254328 RCV004800433

NM_003482.4(KMT2D):c.5269C>T (p.Arg1757Ter)

SNV
Germline

Chr12:49043918

Pathogenic

Kabuki syndrome 1
Inborn genetic diseases
Condition: not provided
KMT2D-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA384634832

rs_1555194045

5 SubmittersRCV000503486 RCV001267387 RCV001786394 RCV004527612

NM_003482.4(KMT2D):c.4941C>T (p.Thr1647=)

SNV
Germline

Chr12:49044766

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6547682

rs_748740454

3 SubmittersRCV000504046 RCV001755743 RCV002060123

NM_003482.4(KMT2D):c.4209C>A (p.Cys1403Ter)

SNV
Germline

Chr12:49047992

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384649236

rs_1555195441

1 SubmittersRCV000501903

NM_003482.4(KMT2D):c.125C>T (p.Ser42Phe)

SNV
Unknown

Chr12:49054951

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384690291

rs_1555198886

1 SubmittersRCV000505820

NM_003482.4(KMT2D):c.12634C>T (p.Arg4212Trp)

SNV
Germline

Chr12:49032071

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6546171

rs_760279999

4 SubmittersRCV000514080 RCV000659801 RCV002060186

NM_003482.4(KMT2D):c.8578C>T (p.Arg2860Cys)

SNV
Germline

Chr12:49038778

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA6546819

rs_201681639

3 SubmittersRCV000514112 RCV002060204 RCV004535658

NM_003482.4(KMT2D):c.10445G>A (p.Arg3482Gln)

SNV
Germline

Chr12:49034472

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6546500

rs_371223664

3 SubmittersRCV000514006 RCV001857866 RCV002524982

NM_003482.4(KMT2D):c.11278G>A (p.Gly3760Ser)

SNV
Germline

Chr12:49033427

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA6546331

rs_373071174

4 SubmittersRCV000514113 RCV001041581 RCV002524987 RCV001821440

NM_003482.4(KMT2D):c.15088C>T (p.Arg5030Cys)

SNV
Germline

Chr12:49026878

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA384690106

rs_1555185875

6 SubmittersRCV000513947 RCV000659821 RCV001857870

NM_003482.4(KMT2D):c.15968G>A (p.Arg5323His)

SNV
Germline

Chr12:49024662

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome 1
Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6545452

rs_745599611

4 SubmittersRCV000516233 RCV001542416 RCV002473031 RCV002525046

NM_003482.4(KMT2D):c.13465G>A (p.Gly4489Arg)

SNV
Germline

Chr12:49031240

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6546016

rs_200574556

2 SubmittersRCV000518659 RCV001857908

NM_003482.4(KMT2D):c.7998C>A (p.Asp2666Glu)

SNV
Germline

Chr12:49039772

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome 1
Condition: not provided
Inborn genetic diseases
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA384745891

rs_1258008817

7 SubmittersRCV000517847 RCV000659759 RCV000730803 RCV002525048 RCV002525047 RCV004537850

NM_003482.4(KMT2D):c.16498C>T (p.Arg5500Trp)

SNV
Germline

Chr12:49022066

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome 1
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA384675752

rs_1555184609

4 SubmittersRCV000523702 RCV001261320 RCV004541628

NM_003482.4(KMT2D):c.8059C>T (p.Arg2687Ter)

SNV
Germline

Chr12:49039605

Pathogenic/Likely pathogenic

Condition: not provided
Kabuki syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA384745548

rs_1555191598

5 SubmittersRCV000519716 RCV000659761

NM_003482.4(KMT2D):c.571C>T (p.Arg191Trp)

SNV
Germline

Chr12:49054080

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA384685625

rs_1555198522

2 SubmittersRCV000519007 RCV002527598

NM_003482.4(KMT2D):c.14688C>A (p.Tyr4896Ter)

SNV
Germline

Chr12:49027278

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384692235

rs_1555186079

1 SubmittersRCV000530361

NM_003482.4(KMT2D):c.12019C>T (p.Gln4007Ter)

SNV
Germline

Chr12:49032686

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384713293

rs_188017299

1 SubmittersRCV000559586

NM_003482.4(KMT2D):c.840-2A>G

SNV
Germline

Chr12:49053323

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384680417

rs_1555198201

1 SubmittersRCV000560185

NM_003482.4(KMT2D):c.12985C>T (p.Gln4329Ter)

SNV
Germline

Chr12:49031720

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384708141

rs_1555187758

1 SubmittersRCV000548396

NM_003482.4(KMT2D):c.175A>G (p.Ser59Gly)

SNV
Germline

Chr12:49054901

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA384689589

rs_1555198862

2 SubmittersRCV000545685 RCV004537958

NM_003482.4(KMT2D):c.15921+1G>A

SNV
Germline

Chr12:49024809

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384682340

rs_1555185299

1 SubmittersRCV000555530

NM_003482.4(KMT2D):c.14644-3C>G

SNV
Germline

Chr12:49027325

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658658150

rs_1555186093

2 SubmittersRCV000554613 RCV003126812

NM_003482.4(KMT2D):c.4204C>T (p.Gln1402Ter)

SNV
Germline

Chr12:49047997

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384649283

rs_1555195442

1 SubmittersRCV000551228

NM_003482.4(KMT2D):c.16052G>A (p.Arg5351Gln)

SNV
Germline

Chr12:49024578

Pathogenic

Kabuki syndrome
Kabuki syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA384681045

rs_1555185217

3 SubmittersRCV000544912 RCV001261319

NM_003482.4(KMT2D):c.11755C>T (p.Gln3919Ter)

SNV
Germline

Chr12:49032950

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384715774

rs_1555188501

1 SubmittersRCV000546328

NM_003482.4(KMT2D):c.4237-2A>G

SNV
Germline

Chr12:49046792

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384647697

rs_797045001

1 SubmittersRCV000527337

NM_001291415.2(KDM6A):c.3172C>T (p.Gln1058Ter)

SNV
Germline

ChrX:45079223

Pathogenic

Kabuki syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA412801240

rs_1556341546

2 SubmittersRCV000540641

NM_003482.4(KMT2D):c.12667C>T (p.Gln4223Ter)

SNV
Germline

Chr12:49032038

Pathogenic

Condition: not provided
Kabuki syndrome
Kabuki syndrome 1
KMT2D-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA384709963

rs_1555187956

4 SubmittersRCV000578523 RCV001853839 RCV002245021 RCV004545788

NM_003482.4(KMT2D):c.7571C>T (p.Thr2524Met)

SNV
Germline

Chr12:49040199

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome 1
not specified
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6547036

rs_760263014

4 SubmittersRCV000595782 RCV000763854 RCV001821725 RCV001854046

NM_003482.4(KMT2D):c.9385C>T (p.Pro3129Ser)

SNV
Germline

Chr12:49037971

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
Inborn genetic diseases
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA6546701

rs_200089754

5 SubmittersRCV000594517 RCV002062068 RCV003160039 RCV004543366

NM_003482.4(KMT2D):c.13671+14A>C

SNV
Germline

Chr12:49030879

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6545948

rs_775862454

2 SubmittersRCV000598545 RCV002062073

NM_003482.4(KMT2D):c.7456C>T (p.His2486Tyr)

SNV
Germline

Chr12:49040314

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA384747665

rs_1292048668

2 SubmittersRCV000592375 RCV001854069

NM_003482.4(KMT2D):c.1075C>T (p.Arg359Cys)

SNV
Germline

Chr12:49052952

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6548586

rs_372085797

4 SubmittersRCV000595880 RCV001860214

NM_003482.4(KMT2D):c.14713C>T (p.Gln4905Ter)

SNV
Germline

Chr12:49027253

Pathogenic/Likely pathogenic

Condition: not provided
Kabuki syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA384692093

rs_1555186053

2 SubmittersRCV000599418 RCV000659817

NM_003482.4(KMT2D):c.8311C>T (p.Arg2771Ter)

SNV
Germline

Chr12:49039277

Pathogenic

Condition: not provided
Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA384742778

rs_1251778848

5 SubmittersRCV000598596 RCV000856808 RCV001854121

NM_003482.4(KMT2D):c.15080G>A (p.Arg5027Gln)

SNV
Germline

Chr12:49026886

Conflicting classifications of pathogenicity

Inborn genetic diseases
Kabuki syndrome 1
not specified
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA6545604

rs_774403945

5 SubmittersRCV000622781 RCV000763851 RCV001821758 RCV001855304 RCV004533295

NM_003482.4(KMT2D):c.11944C>T (p.Arg3982Ter)

SNV
Germline

Chr12:49032761

Pathogenic

Inborn genetic diseases
Kabuki syndrome
Kabuki syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA384713842

rs_1555188379

4 SubmittersRCV000624430 RCV001202175 RCV001261352 RCV001788303

NM_003482.4(KMT2D):c.11124C>G (p.Ser3708Arg)

SNV
Germline

Chr12:49033581

Conflicting classifications of pathogenicity

Inborn genetic diseases
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6546363

rs_773713199

2 SubmittersRCV000622538 RCV001474222

NM_003482.4(KMT2D):c.6510A>C (p.Gln2170His)

SNV
Germline

Chr12:49041260

Conflicting classifications of pathogenicity

Inborn genetic diseases
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6547248

rs_753121118

2 SubmittersRCV000623468 RCV003753146

NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter)

SNV
Germline

Chr12:49041475

Pathogenic

Inborn genetic diseases
Kabuki syndrome 1
Condition: not provided
Intellectual disability
KMT2D-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA384751452

rs_1452715535

10 SubmittersRCV000622445 RCV000659734 RCV000760463 RCV001257646 RCV004533293

NM_001291415.2(KDM6A):c.1677A>C (p.Gln559His)

SNV
Germline

ChrX:45062742

Conflicting classifications of pathogenicity

Inborn genetic diseases
Kabuki syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10392394

rs_763587293

4 SubmittersRCV000623895 RCV001197576 RCV001584448

NM_003482.4(KMT2D):c.13818C>G (p.Tyr4606Ter)

SNV
Germline

Chr12:49030622

Pathogenic

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA384701705

rs_1555187117

2 SubmittersRCV000626219 RCV001388480

NM_003482.4(KMT2D):c.15641G>C (p.Arg5214Pro)

SNV
Germline

Chr12:49026325

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

CA384686107

rs_398123729

1 SubmittersRCV000627088

NM_003482.4(KMT2D):c.11815C>G (p.Gln3939Glu)

SNV
Germline

Chr12:49032890

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA384715123

rs_1326092141

2 SubmittersRCV000627093 RCV001415744

NM_001291415.2(KDM6A):c.3953C>A (p.Ser1318Ter)

SNV
Germline

ChrX:45090783

Pathogenic

Condition: not provided
Kabuki syndrome 2

Criteria Provided
Single Submitter

CA412808311

rs_1556357314

2 SubmittersRCV000627275 RCV003148808

NM_003482.4(KMT2D):c.16338+2T>C

SNV
Germline

Chr12:49022588

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384677297

rs_1555184777

1 SubmittersRCV000638431

NM_003482.4(KMT2D):c.12705G>A (p.Gln4235=)

SNV
Germline

Chr12:49032000

Conflicting classifications of pathogenicity

Kabuki syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA236639197

rs_905791071

3 SubmittersRCV000638446 RCV001816585 RCV003133424

NM_003482.4(KMT2D):c.11812C>T (p.Gln3938Ter)

SNV
Germline

Chr12:49032893

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384715136

rs_1350605713

1 SubmittersRCV000638439

NM_003482.4(KMT2D):c.11743C>T (p.Gln3915Ter)

SNV
Germline

Chr12:49032962

Pathogenic/Likely pathogenic

Kabuki syndrome
Kabuki syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA384715929

rs_1555188518

2 SubmittersRCV000638428 RCV000659795

NM_003482.4(KMT2D):c.4222T>G (p.Cys1408Gly)

SNV
Germline

Chr12:49047979

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384649101

rs_1555195432

1 SubmittersRCV000638432

NM_003482.4(KMT2D):c.16342C>T (p.Arg5448Ter)

SNV
Germline

Chr12:49022350

Pathogenic/Likely pathogenic

Kabuki syndrome
Kabuki syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA384677189

rs_1422752351

5 SubmittersRCV000638437 RCV000659834 RCV004719911

NM_003482.4(KMT2D):c.6518C>T (p.Ser2173Leu)

SNV
Germline

Chr12:49041252

Conflicting classifications of pathogenicity

Kabuki syndrome
Kabuki syndrome 1
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA6547247

rs_765654409

3 SubmittersRCV000638427 RCV000763856 RCV004533338

NM_001291415.2(KDM6A):c.2988+1G>A

SNV
Germline

ChrX:45076827

Pathogenic

Condition: not provided
Kabuki syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA412799350

rs_1135401809

3 SubmittersRCV000656284 RCV000687466

NM_001291415.2(KDM6A):c.3614G>A (p.Cys1205Tyr)

SNV
Germline

ChrX:45085889

Likely pathogenic

Condition: not provided
Kabuki syndrome 2

Criteria Provided
Single Submitter

CA412804999

rs_1556350571

2 SubmittersRCV000656306 RCV000690858

NM_003482.4(KMT2D):c.7000C>T (p.Arg2334Trp)

SNV
Germline

Chr12:49040770

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_1196495584

2 SubmittersRCV000658462 RCV003588661

NM_003482.4(KMT2D):c.16338+1G>T

SNV
Germline

Chr12:49022589

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1555184782

1 SubmittersRCV000659833

NM_003482.4(KMT2D):c.15640C>T (p.Arg5214Cys)

SNV
Germline

Chr12:49026326

Pathogenic

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_398123728

5 SubmittersRCV000659827 RCV003588663

NM_003482.4(KMT2D):c.15583C>T (p.Gln5195Ter)

SNV
Germline

Chr12:49026383

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1555185699

1 SubmittersRCV000659825

NM_003482.4(KMT2D):c.15565G>A (p.Gly5189Arg)

SNV
Germline

Chr12:49026401

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_1555185701

2 SubmittersRCV000659824 RCV001060415

NM_003482.4(KMT2D):c.15499A>G (p.Ser5167Gly)

SNV
Germline

Chr12:49026467

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_752976776

2 SubmittersRCV000659823 RCV002066964

NM_003482.4(KMT2D):c.15286C>T (p.Gln5096Ter)

SNV
Germline

Chr12:49026680

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1555185817

1 SubmittersRCV000659822

NM_003482.4(KMT2D):c.14878C>T (p.Arg4960Ter)

SNV
Germline

Chr12:49027088

Pathogenic

Kabuki syndrome 1
Kabuki syndrome
KMT2D-related disorder
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555185969

4 SubmittersRCV000659820 RCV002530556 RCV004533449 RCV004639313

NM_003482.4(KMT2D):c.14515+1G>A

SNV
Germline

Chr12:49028008

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1555186232

1 SubmittersRCV000659815

NM_003482.4(KMT2D):c.14189G>A (p.Trp4730Ter)

SNV
Germline

Chr12:49029123

Pathogenic/Likely pathogenic

Kabuki syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555186527

3 SubmittersRCV000659813 RCV001268133

NM_003482.4(KMT2D):c.14000-3C>G

SNV
Germline

Chr12:49029479

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1355372507

1 SubmittersRCV000659810

NM_003482.4(KMT2D):c.13531-10T>C

SNV
Germline

Chr12:49031043

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_769029919

4 SubmittersRCV000659808 RCV000872429 RCV001446522 RCV004533448

NM_003482.4(KMT2D):c.13367C>G (p.Ser4456Ter)

SNV
Germline

Chr12:49031338

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1555187461

1 SubmittersRCV000659807

NM_003482.4(KMT2D):c.13213C>T (p.Gln4405Ter)

SNV
Germline

Chr12:49031492

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1555187575

1 SubmittersRCV000659805

NM_003482.4(KMT2D):c.12808C>T (p.Gln4270Ter)

SNV
Germline

Chr12:49031897

Pathogenic/Likely pathogenic

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555187869

2 SubmittersRCV000659803 RCV003588662

NM_003482.4(KMT2D):c.12566G>C (p.Gly4189Ala)

SNV
Germline

Chr12:49032139

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_532360713

2 SubmittersRCV000659800 RCV003753151

NM_003482.4(KMT2D):c.12469C>T (p.Gln4157Ter)

SNV
Germline

Chr12:49032236

Pathogenic/Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555188080

3 SubmittersRCV000659798

NM_003482.4(KMT2D):c.11848C>T (p.Gln3950Ter)

SNV
Germline

Chr12:49032857

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1555188430

1 SubmittersRCV000659797

NM_003482.4(KMT2D):c.11710C>T (p.Gln3904Ter)

SNV
Germline

Chr12:49032995

Pathogenic/Likely pathogenic

Condition: not provided
Kabuki syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555188537

2 SubmittersRCV004719920 RCV000659793

NM_003482.4(KMT2D):c.11599C>A (p.Gln3867Lys)

SNV
Germline

Chr12:49033106

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_1200655258

3 SubmittersRCV000659791 RCV001201477

NM_003482.4(KMT2D):c.10999C>T (p.Gln3667Ter)

SNV
Germline

Chr12:49033706

Pathogenic/Likely pathogenic

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555189038

2 SubmittersRCV000659783 RCV000704753

NM_003482.4(KMT2D):c.10522C>T (p.Arg3508Trp)

SNV
Germline

Chr12:49034285

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_777638253

3 SubmittersRCV000659781 RCV003128720 RCV003753150

NM_003482.4(KMT2D):c.10467G>T (p.Gln3489His)

SNV
Germline

Chr12:49034450

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome
Condition: not provided
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_535351117

4 SubmittersRCV000659780 RCV001466229 RCV002279478 RCV004544920

NM_003482.4(KMT2D):c.10440+2T>G

SNV
Germline

Chr12:49034580

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1555189421

1 SubmittersRCV000659779

NM_003482.4(KMT2D):c.10378C>T (p.Gln3460Ter)

SNV
Germline

Chr12:49034644

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1555189450

1 SubmittersRCV000659778

NM_003482.4(KMT2D):c.10090C>T (p.Gln3364Ter)

SNV
Germline

Chr12:49037266

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1210590639

1 SubmittersRCV000659776

NM_003482.4(KMT2D):c.9439G>A (p.Ala3147Thr)

SNV
Germline

Chr12:49037917

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_1555190514

2 SubmittersRCV000659774 RCV003753149

NM_003482.4(KMT2D):c.8579G>A (p.Arg2860His)

SNV
Germline

Chr12:49038777

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome
Condition: not provided
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_377747403

4 SubmittersRCV000659768 RCV001481332 RCV002225706 RCV004533447

NM_003482.4(KMT2D):c.8516C>G (p.Ser2839Ter)

SNV
Germline

Chr12:49038840

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1555191147

1 SubmittersRCV000659767

NM_003482.4(KMT2D):c.8405C>T (p.Ala2802Val)

SNV
Germline

Chr12:49038951

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_1239905273

3 SubmittersRCV000659765 RCV003753148

NM_003482.4(KMT2D):c.8401C>T (p.Arg2801Ter)

SNV
Germline

Chr12:49038955

Pathogenic/Likely pathogenic

Kabuki syndrome 1
Condition: not provided
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555191203

4 SubmittersRCV000659764 RCV000760314 RCV002530555

NM_003482.4(KMT2D):c.8137G>A (p.Ala2713Thr)

SNV
Germline

Chr12:49039527

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_748969707

3 SubmittersRCV000659762 RCV000687769 RCV004758720

NM_003482.4(KMT2D):c.7933C>T (p.Arg2645Ter)

SNV
Germline

Chr12:49039837

Pathogenic

Kabuki syndrome 1
Condition: not provided
KMT2D-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555191740

4 SubmittersRCV000659758 RCV002255498 RCV004533446

NM_003482.4(KMT2D):c.7426G>T (p.Glu2476Ter)

SNV
Germline

Chr12:49040344

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1555192113

1 SubmittersRCV000659752

NM_003482.4(KMT2D):c.7366C>T (p.Arg2456Cys)

SNV
Germline

Chr12:49040404

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_754060706

2 SubmittersRCV000659751 RCV002530554

NM_003482.4(KMT2D):c.6608C>T (p.Thr2203Met)

SNV
Germline

Chr12:49041162

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_770692765

3 SubmittersRCV000659737 RCV001855389 RCV002225705

NM_003482.4(KMT2D):c.5752C>T (p.Arg1918Cys)

SNV
Germline

Chr12:49042771

Conflicting classifications of pathogenicity

Kabuki syndrome 1
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_747722455

3 SubmittersRCV000659733 RCV001816661 RCV004777813

NM_003482.4(KMT2D):c.5645-3C>T

SNV
Germline

Chr12:49042881

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_544332856

5 SubmittersRCV000659732 RCV000911213 RCV001459987 RCV004544919

NM_003482.4(KMT2D):c.5467G>T (p.Gly1823Ter)

SNV
Germline

Chr12:49043635

Pathogenic/Likely pathogenic

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555193912

2 SubmittersRCV000659729 RCV002532009

NM_003482.4(KMT2D):c.4762G>T (p.Glu1588Ter)

SNV
Germline

Chr12:49044945

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1290729871

1 SubmittersRCV000659723

NM_003482.4(KMT2D):c.4131G>A (p.Gln1377=)

SNV
Germline

Chr12:49048659

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_764942

1 SubmittersRCV000659714

NM_003482.4(KMT2D):c.4130A>C (p.Gln1377Pro)

SNV
Germline

Chr12:49048660

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1555195573

1 SubmittersRCV000659713

NM_003482.4(KMT2D):c.3982C>T (p.Arg1328Trp)

SNV
Germline

Chr12:49049143

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_754797404

2 SubmittersRCV000659712 RCV002532008

NM_003482.4(KMT2D):c.2992C>T (p.Pro998Ser)

SNV
Germline

Chr12:49050596

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_143711798

2 SubmittersRCV000659708 RCV003753147

NM_003482.4(KMT2D):c.2819C>G (p.Ser940Ter)

SNV
Germline

Chr12:49050769

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1555196590

1 SubmittersRCV000659707

NM_003482.4(KMT2D):c.2546C>A (p.Ser849Ter)

SNV
Germline

Chr12:49051137

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_370492566

1 SubmittersRCV000659704

NM_003482.4(KMT2D):c.1939C>A (p.Pro647Thr)

SNV
Germline

Chr12:49051744

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_200106242

3 SubmittersRCV000659697 RCV001861712 RCV004758717

NM_003482.4(KMT2D):c.941C>G (p.Ser314Cys)

SNV
Germline

Chr12:49053220

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_1043654062

2 SubmittersRCV000659694 RCV002534325

NM_003482.4(KMT2D):c.838A>G (p.Arg280Gly)

SNV
Germline

Chr12:49053477

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_1555198244

2 SubmittersRCV000659693 RCV002295309

NM_003482.4(KMT2D):c.423G>A (p.Trp141Ter)

SNV
Germline

Chr12:49054394

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1555198640

1 SubmittersRCV000659689

NM_003482.4(KMT2D):c.176+15G>A

SNV
Germline

Chr12:49054885

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_1415205254

2 SubmittersRCV000659687 RCV002536342

NM_003482.4(KMT2D):c.50-1G>T

SNV
Germline

Chr12:49055027

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1555198921

1 SubmittersRCV000659686

NM_001291415.2(KDM6A):c.2899T>C (p.Leu967=)

SNV
Germline

ChrX:45076737

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome 2

Criteria Provided
Conflicting Classifications

rs_374328447

2 SubmittersRCV000659685 RCV002534324

NM_001291415.2(KDM6A):c.3925G>T (p.Glu1309Ter)

SNV
Germline

ChrX:45090755

Likely pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

rs_1556357274

1 SubmittersRCV000677732

NM_003482.4(KMT2D):c.16019G>A (p.Arg5340Gln)

SNV
Germline

Chr12:49024611

Pathogenic/Likely pathogenic

Kabuki syndrome 1
Kabuki syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565756106

4 SubmittersRCV000681514 RCV001868307 RCV002307588

NM_003482.4(KMT2D):c.2515G>T (p.Glu839Ter)

SNV
Germline

Chr12:49051168

Likely pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_781145102

1 SubmittersRCV000684769

NM_003482.4(KMT2D):c.10502T>G (p.Val3501Gly)

SNV
Germline

Chr12:49034415

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_1565781216

1 SubmittersRCV000703136

NM_003482.4(KMT2D):c.7967T>C (p.Leu2656Ser)

SNV
Germline

Chr12:49039803

Conflicting classifications of pathogenicity

Kabuki syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_1014845953

2 SubmittersRCV000691724 RCV004702325

NM_003482.4(KMT2D):c.307C>T (p.Pro103Ser)

SNV
Germline

Chr12:49054621

Conflicting classifications of pathogenicity

Kabuki syndrome
Kabuki syndrome 1

Criteria Provided
Conflicting Classifications

rs_976882824

2 SubmittersRCV000697354 RCV001291752

NM_003482.4(KMT2D):c.10570C>T (p.Gln3524Ter)

SNV
Germline

Chr12:49034237

Pathogenic

Kabuki syndrome
Branchial cleft anomaly

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565780936

2 SubmittersRCV000702805 RCV004798858

NM_003482.4(KMT2D):c.4359C>G (p.His1453Gln)

SNV
Germline

Chr12:49046668

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_767737749

1 SubmittersRCV000685040

NM_003482.4(KMT2D):c.11881C>T (p.Gln3961Ter)

SNV
Germline

Chr12:49032824

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_1565776616

1 SubmittersRCV000705834

NM_003482.4(KMT2D):c.5263C>T (p.Gln1755Ter)

SNV
Germline

Chr12:49043924

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_1565802369

1 SubmittersRCV000705469

NM_003482.4(KMT2D):c.7649C>A (p.Pro2550His)

SNV
Germline

Chr12:49040121

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_368698254

3 SubmittersRCV000686273 RCV004527738 RCV004639320

NM_001291415.2(KDM6A):c.3094+2T>C

SNV
Germline

ChrX:45078507

Likely pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

rs_1569537333

1 SubmittersRCV000706419

NM_001291415.2(KDM6A):c.3919C>T (p.Arg1307Trp)

SNV
Germline

ChrX:45090749

Pathogenic

Kabuki syndrome 2
Kabuki syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1450363794

2 SubmittersRCV000685508 RCV001813796

NM_003482.4(KMT2D):c.13118G>A (p.Gly4373Asp)

SNV
Germline

Chr12:49031587

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_770966197

3 SubmittersRCV000712305 RCV001861974

NM_003482.4(KMT2D):c.6434C>T (p.Pro2145Leu)

SNV
Germline

Chr12:49041336

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_574231443

4 SubmittersRCV000727922 RCV002535051 RCV004540033

NM_003482.4(KMT2D):c.16299C>T (p.Asn5433=)

SNV
Germline

Chr12:49022629

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_975080118

3 SubmittersRCV000728092 RCV002060966 RCV004540034

NM_003482.4(KMT2D):c.11401A>C (p.Met3801Leu)

SNV
Germline

Chr12:49033304

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_564097272

2 SubmittersRCV000729065 RCV001862165

NM_003482.4(KMT2D):c.1568C>T (p.Pro523Leu)

SNV
Germline

Chr12:49052115

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_376761356

3 SubmittersRCV000730804 RCV003117529 RCV004535839

NM_003482.4(KMT2D):c.2646G>A (p.Leu882=)

SNV
Germline

Chr12:49051037

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_376227770

3 SubmittersRCV000732460 RCV001816803 RCV002067130

NM_003482.4(KMT2D):c.10165A>G (p.Met3389Val)

SNV
Germline

Chr12:49037191

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
Kabuki syndrome 1

Criteria Provided
Conflicting Classifications

rs_372740284

4 SubmittersRCV000732648 RCV001855689 RCV002485922

NM_003482.4(KMT2D):c.11180G>A (p.Arg3727His)

SNV
Germline

Chr12:49033525

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_777628634

2 SubmittersRCV000733445 RCV001063842

NM_003482.4(KMT2D):c.7078C>G (p.Pro2360Ala)

SNV
Germline

Chr12:49040692

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_376483324

3 SubmittersRCV000733975 RCV002067160 RCV004540072

NM_003482.4(KMT2D):c.14474G>A (p.Arg4825Gln)

SNV
Germline

Chr12:49028050

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_758494772

5 SubmittersRCV002536521 RCV000734492 RCV001855815 RCV004540074

NM_003482.4(KMT2D):c.1305C>T (p.Asn435=)

SNV
Germline

Chr12:49052378

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_1296595611

2 SubmittersRCV000735048 RCV003753156

NM_003482.4(KMT2D):c.4214A>G (p.His1405Arg)

SNV
Unknown

Chr12:49047987

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1565809463

1 SubmittersRCV000735232

NM_003482.4(KMT2D):c.14568G>A (p.Trp4856Ter)

SNV
Germline

Chr12:49027878

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1565763192

1 SubmittersRCV000760268

NM_003482.4(KMT2D):c.4262G>A (p.Gly1421Asp)

SNV
Germline

Chr12:49046765

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1565807707

1 SubmittersRCV000760196

NM_003482.4(KMT2D):c.16018C>T (p.Arg5340Ter)

SNV
Germline

Chr12:49024612

Pathogenic

Condition: not provided
Kabuki syndrome 1
Kabuki syndrome
Inborn genetic diseases
Kabuki syndrome 1
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565756115

5 SubmittersRCV000760462 RCV002285172 RCV001855926 RCV002533836 RCV003883162

NM_001291415.2(KDM6A):c.2128C>T (p.Arg710Ter)

SNV
Germline

ChrX:45069627

Pathogenic

Condition: not provided
Neurodevelopmental disorder
Kabuki syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_755440519

3 SubmittersRCV000760811 RCV001779074 RCV003642916

NM_003482.4(KMT2D):c.15341A>C (p.His5114Pro)

SNV
Germline

Chr12:49026625

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Kabuki syndrome 1

Criteria Provided
Conflicting Classifications

rs_1565759674

1 SubmittersRCV000768007 RCV003224807

NM_003482.4(KMT2D):c.11849A>G (p.Gln3950Arg)

SNV
Germline

Chr12:49032856

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome
Condition: not provided
Kabuki syndrome 1
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_751367935

4 SubmittersRCV000768008 RCV001869057 RCV001572528 RCV003224414 RCV004540088

NM_003482.4(KMT2D):c.7328G>T (p.Arg2443Leu)

SNV
Germline

Chr12:49040442

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Condition: not provided
Kabuki syndrome 1
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_780776865

3 SubmittersRCV000768009 RCV001785720 RCV003224415 RCV003768306

NM_003482.4(KMT2D):c.7001G>A (p.Arg2334Gln)

SNV
Germline

Chr12:49040769

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome
Kabuki syndrome 1
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

Criteria Provided
Conflicting Classifications

rs_757300574

2 SubmittersRCV000768010 RCV002533930 RCV003224416

NM_003482.4(KMT2D):c.1408C>T (p.Pro470Ser)

SNV
Germline

Chr12:49052275

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome
Kabuki syndrome 1
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

Criteria Provided
Conflicting Classifications

rs_761594079

2 SubmittersRCV000768255 RCV002533939 RCV003224446

NM_003482.4(KMT2D):c.16294C>T (p.Arg5432Trp)

SNV
Germline

Chr12:49022634

Pathogenic

Condition: not provided
Kabuki syndrome 1
See cases
Kabuki syndrome
KMT2D-related disorder
Branchial cleft anomaly

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565753611

7 SubmittersRCV000782029 RCV002509534 RCV003156134 RCV003588678 RCV004535913 RCV004798870

NM_003482.4(KMT2D):c.9002A>G (p.Lys3001Arg)

SNV
Germline

Chr12:49038354

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_371231725

2 SubmittersRCV000785108 RCV002535721

NM_003482.4(KMT2D):c.8366+1G>T

SNV
Germline

Chr12:49039221

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1057518149

1 SubmittersRCV000785616

NM_003482.4(KMT2D):c.11047C>T (p.Gln3683Ter)

SNV
Germline/somatic

Chr12:49033658

Pathogenic

Kabuki syndrome
Cavernous sinus meningioma

Criteria Provided
Single Submitter

rs_1565779530

2 SubmittersRCV001382674 RCV004813137

NM_003482.4(KMT2D):c.9964C>T (p.Gln3322Ter)

SNV
Germline

Chr12:49037392

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1592129081

1 SubmittersRCV000786997

NM_003482.4(KMT2D):c.8229+1G>A

SNV
Germline

Chr12:49039434

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1592133086

1 SubmittersRCV000789030

NM_003482.4(KMT2D):c.12715C>T (p.Gln4239Ter)

SNV
Germline

Chr12:49031990

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_1592117125

1 SubmittersRCV000807749

NM_003482.4(KMT2D):c.11971C>T (p.Gln3991Ter)

SNV
Germline

Chr12:49032734

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_1592118953

1 SubmittersRCV000800601

NM_003482.4(KMT2D):c.11968C>T (p.Gln3990Ter)

SNV
Germline

Chr12:49032737

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_1592118976

1 SubmittersRCV000804521

NM_003482.4(KMT2D):c.8953A>T (p.Lys2985Ter)

SNV
Germline

Chr12:49038403

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_1592131106

1 SubmittersRCV000815766

NM_003482.4(KMT2D):c.8200C>T (p.Arg2734Ter)

SNV
Germline

Chr12:49039464

Pathogenic

Kabuki syndrome
Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1565790749

2 SubmittersRCV000809405 RCV001261270

NM_003482.4(KMT2D):c.8044C>T (p.Gln2682Ter)

SNV
Germline

Chr12:49039726

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_1592133696

1 SubmittersRCV000815717

NM_003482.4(KMT2D):c.6496C>T (p.Gln2166Ter)

SNV
Germline

Chr12:49041274

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_1592137413

1 SubmittersRCV000796161

NM_003482.4(KMT2D):c.6114G>A (p.Trp2038Ter)

SNV
Germline

Chr12:49041986

Pathogenic

Kabuki syndrome
Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1592138822

2 SubmittersRCV000816142 RCV001261266

NM_003482.4(KMT2D):c.3788C>G (p.Ser1263Ter)

SNV
Germline

Chr12:49049800

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_1592151169

1 SubmittersRCV000799599

NM_003482.4(KMT2D):c.1529C>G (p.Ser510Ter)

SNV
Germline

Chr12:49052154

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_1592157335

1 SubmittersRCV000818574

NM_001291415.2(KDM6A):c.2629A>G (p.Thr877Ala)

SNV
Germline

ChrX:45070128

Conflicting classifications of pathogenicity

Kabuki syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_140562248

2 SubmittersRCV000793290 RCV002245669

NM_001291415.2(KDM6A):c.3740C>T (p.Pro1247Leu)

SNV
Germline

ChrX:45089778

Likely pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

rs_1602985802

1 SubmittersRCV000803634

NM_001291415.2(KDM6A):c.4207C>T (p.Arg1403Ter)

SNV
Germline

ChrX:45110124

Pathogenic

Kabuki syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1318649487

2 SubmittersRCV000798575

NM_003482.4(KMT2D):c.5868-1G>A

SNV
Germline

Chr12:49042331

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_867333942

1 SubmittersRCV000807741

NM_003482.4(KMT2D):c.14076-2A>C

SNV
Germline

Chr12:49029238

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_1592110749

1 SubmittersRCV000818246

NM_003482.4(KMT2D):c.5319+1G>A

SNV
Germline

Chr12:49043867

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_1057520722

1 SubmittersRCV000813800

NM_001291415.2(KDM6A):c.1581+1G>T

SNV
Germline

ChrX:45061420

Likely pathogenic

Kabuki syndrome 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1602799769

2 SubmittersRCV000810693 RCV004721631

NM_001291415.2(KDM6A):c.3300+1G>A

SNV
Germline

ChrX:45079352

Likely pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

rs_1602928572

1 SubmittersRCV000821618

NM_001291415.2(KDM6A):c.4317T>A (p.Tyr1439Ter)

SNV
Unknown

ChrX:45110234

Likely pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

rs_1603068073

1 SubmittersRCV000850404

NM_003482.4(KMT2D):c.15089G>A (p.Arg5030His)

SNV
Germline

Chr12:49026877

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1592105909

1 SubmittersRCV000850498

NM_003482.4(KMT2D):c.6010C>T (p.Gln2004Ter)

SNV
Germline

Chr12:49042188

Pathogenic

Kabuki syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1592139221

2 SubmittersRCV000853285

NM_001291415.2(KDM6A):c.493C>T (p.Arg165Ter)

SNV
Germline/somatic

ChrX:45020659

Pathogenic

Kabuki syndrome 2
Condition: not provided
Malignant tumor of urinary bladder

Criteria Provided
Multiple Submitters
No Conflicts

rs_912069418

6 SubmittersRCV000853276 RCV002269324 RCV003332269

NM_003482.4(KMT2D):c.5869G>T (p.Glu1957Ter)

SNV
Unknown

Chr12:49042329

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1592139573

1 SubmittersRCV000856795

NM_003482.4(KMT2D):c.5278A>T (p.Lys1760Ter)

SNV
Unknown

Chr12:49043909

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1592142093

1 SubmittersRCV000856790

NM_003482.4(KMT2D):c.6998C>T (p.Pro2333Leu)

SNV
Germline

Chr12:49040772

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_377504041

3 SubmittersRCV000946376 RCV002546009 RCV004543552

NM_003482.4(KMT2D):c.3907-9T>G

SNV
Germline

Chr12:49049227

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_367751308

3 SubmittersRCV000895124 RCV002065615 RCV001818700

NM_003482.4(KMT2D):c.12848C>G (p.Pro4283Arg)

SNV
Germline

Chr12:49031857

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_768584961

2 SubmittersRCV000943965 RCV001435489

NM_003482.4(KMT2D):c.14893G>A (p.Ala4965Thr)

SNV
Germline

Chr12:49027073

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_200747934

3 SubmittersRCV000988830 RCV001510488 RCV004536015

NM_003482.4(KMT2D):c.8230-1G>A

SNV
Unknown

Chr12:49039359

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1592132971

1 SubmittersRCV000988836

NM_003482.4(KMT2D):c.7021C>T (p.Gln2341Ter)

SNV
Unknown

Chr12:49040749

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1592136242

1 SubmittersRCV000988838

NM_003482.4(KMT2D):c.176+1G>A

SNV
Unknown

Chr12:49054899

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1592162768

1 SubmittersRCV000988843

NM_003482.4(KMT2D):c.14972G>A (p.Arg4991Gln)

SNV
Germline

Chr12:49026994

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_761108868

4 SubmittersRCV001819701 RCV001858750 RCV000992311

NM_003482.4(KMT2D):c.14413G>A (p.Glu4805Lys)

SNV
Germline

Chr12:49028111

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_563335387

3 SubmittersRCV001858749 RCV000992309

NM_003482.4(KMT2D):c.11347C>G (p.Gln3783Glu)

SNV
Germline

Chr12:49033358

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
Kabuki syndrome 1

Criteria Provided
Conflicting Classifications

rs_752477959

3 SubmittersRCV000992308 RCV001858748 RCV003447569

NM_003482.4(KMT2D):c.6884C>T (p.Ser2295Phe)

SNV
Germline

Chr12:49040886

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_758685548

4 SubmittersRCV000992315 RCV002275178 RCV002549793

NM_003482.4(KMT2D):c.12889T>C (p.Ser4297Pro)

SNV
Germline

Chr12:49031816

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome
Condition: not provided
Inborn genetic diseases
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_370243498

6 SubmittersRCV001002641 RCV001410364 RCV001683722 RCV002549185 RCV004545010

NM_003482.4(KMT2D):c.793C>T (p.Arg265Cys)

SNV
Germline

Chr12:49053522

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome
Condition: not provided
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_766543419

4 SubmittersRCV001000836 RCV001858913 RCV003392728 RCV004545007

NM_003482.4(KMT2D):c.7228C>T (p.Arg2410Ter)

SNV
Germline

Chr12:49040542

Pathogenic

Microcephaly
Kabuki syndrome 1
Kabuki syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1943461045

4 SubmittersRCV001252695 RCV001352916 RCV001390429 RCV003147574

NM_003482.4(KMT2D):c.166C>T (p.Gln56Ter)

SNV
Germline

Chr12:49054910

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1592162790

2 SubmittersRCV001029731

NM_003482.4(KMT2D):c.15629A>G (p.Tyr5210Cys)

SNV
Germline

Chr12:49026337

Likely pathogenic

Kabuki syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1942587772

2 SubmittersRCV001071132 RCV004720063

NM_003482.4(KMT2D):c.15289C>T (p.Arg5097Ter)

SNV
Germline

Chr12:49026677

Pathogenic

Kabuki syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1942608745

2 SubmittersRCV001055633 RCV001823181

NM_003482.4(KMT2D):c.15185G>A (p.Cys5062Tyr)

SNV
Germline

Chr12:49026781

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_1942615152

1 SubmittersRCV001042852

NM_003482.4(KMT2D):c.15171G>A (p.Trp5057Ter)

SNV
Germline

Chr12:49026795

Pathogenic/Likely pathogenic

Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1942616266

2 SubmittersRCV001047223 RCV004536090

NM_003482.4(KMT2D):c.9136G>T (p.Glu3046Ter)

SNV
Germline

Chr12:49038220

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_1943319609

1 SubmittersRCV001066351

NM_003482.4(KMT2D):c.5149C>T (p.Gln1717Ter)

SNV
Germline

Chr12:49044239

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_1157281284

1 SubmittersRCV001066879

NM_003482.4(KMT2D):c.8521C>A (p.Pro2841Thr)

SNV
Germline

Chr12:49038835

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_763347763

2 SubmittersRCV001090719 RCV001873447

NM_003482.4(KMT2D):c.5375T>C (p.Val1792Ala)

SNV
Germline

Chr12:49043727

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_757707458

2 SubmittersRCV001090722 RCV001862681

NM_003482.4(KMT2D):c.14057A>C (p.Asn4686Thr)

SNV
Germline

Chr12:49029419

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Condition: not provided
Inborn genetic diseases
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_1188206999

4 SubmittersRCV001095777 RCV001759864 RCV002554883 RCV003769039

NM_003482.4(KMT2D):c.14575C>T (p.Gln4859Ter)

SNV
Unknown

Chr12:49027871

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1942683224

1 SubmittersRCV001197916

NM_003482.4(KMT2D):c.6607A>T (p.Thr2203Ser)

SNV
Germline

Chr12:49041163

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1943505364

3 SubmittersRCV001197285 RCV002560233 RCV002560232

NM_003482.4(KMT2D):c.1912C>G (p.Pro638Ala)

SNV
Germline

Chr12:49051771

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_372919446

3 SubmittersRCV001197423 RCV001863113 RCV004528409

NM_003482.4(KMT2D):c.1628C>T (p.Ser543Leu)

SNV
Germline

Chr12:49052055

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_776242478

2 SubmittersRCV001196769 RCV002560225

NM_003482.4(KMT2D):c.14945G>A (p.Trp4982Ter)

SNV
Germline

Chr12:49027021

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_1942631986

1 SubmittersRCV001219587

NM_003482.4(KMT2D):c.11902C>T (p.Gln3968Ter)

SNV
Germline

Chr12:49032803

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_1942993834

1 SubmittersRCV001223071

NM_003482.4(KMT2D):c.6945C>G (p.His2315Gln)

SNV
Germline

Chr12:49040825

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_764686162

2 SubmittersRCV001215175 RCV002285458

NM_003482.4(KMT2D):c.13964C>T (p.Ala4655Val)

SNV
Germline

Chr12:49030315

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_575126048

2 SubmittersRCV001203355 RCV003490117

NM_003482.4(KMT2D):c.11524C>T (p.Gln3842Ter)

SNV
Germline

Chr12:49033181

Pathogenic

Kabuki syndrome
Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1943040858

2 SubmittersRCV001211934 RCV001261303

NM_003482.4(KMT2D):c.8386C>T (p.Gln2796Ter)

SNV
Germline

Chr12:49038970

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_1555191210

1 SubmittersRCV001227532

NM_003482.4(KMT2D):c.7769C>A (p.Ser2590Ter)

SNV
Germline

Chr12:49040001

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_760007799

1 SubmittersRCV001227205

NM_003482.4(KMT2D):c.13225G>T (p.Glu4409Ter)

SNV
Germline

Chr12:49031480

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_1942907207

1 SubmittersRCV001243135

NM_001291415.2(KDM6A):c.3301-2A>G

SNV
Germline

ChrX:45082574

Likely pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

rs_1195711941

1 SubmittersRCV001238223

NM_003482.4(KMT2D):c.16338+1G>A

SNV
Germline

Chr12:49022589

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_1555184782

1 SubmittersRCV001240828

NM_001291415.2(KDM6A):c.3811T>C (p.Trp1271Arg)

SNV
Unknown

ChrX:45089849

Conflicting classifications of pathogenicity

Kabuki Syndrome - KDM6A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2045816079

2 SubmittersRCV001249759 RCV002504372

NM_003482.4(KMT2D):c.6314G>A (p.Arg2105His)

SNV
Germline

Chr12:49041456

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_772506992

2 SubmittersRCV001249846 RCV001879766

NM_003482.4(KMT2D):c.3539C>A (p.Ser1180Ter)

SNV
Germline

Chr12:49050049

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_750754763

1 SubmittersRCV001250413

NM_003482.4(KMT2D):c.6302C>T (p.Ala2101Val)

SNV
Unknown

Chr12:49041468

Likely pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1943527215

1 SubmittersRCV001252035

NM_003482.4(KMT2D):c.3761A>C (p.Glu1254Ala)

SNV
Unknown

Chr12:49049827

Likely pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1937821838

1 SubmittersRCV001252037

NM_001291415.2(KDM6A):c.2519C>G (p.Ala840Gly)

SNV
Unknown

ChrX:45070018

Likely pathogenic

Kabuki syndrome 2

No Assertion Criteria Provided

rs_2044746153

1 SubmittersRCV001252278

NM_003482.4(KMT2D):c.8366+2T>G

SNV
Germline

Chr12:49039220

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1943368267

1 SubmittersRCV001253504

NM_001291415.2(KDM6A):c.140A>G (p.Glu47Gly)

SNV
Germline

ChrX:44873691

Pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

rs_2031089646

1 SubmittersRCV001254085

NM_001291415.2(KDM6A):c.908C>A (p.Ala303Asp)

SNV
Germline

ChrX:45059038

Likely pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

rs_2044199885

1 SubmittersRCV001254086

NM_003482.4(KMT2D):c.10624C>G (p.Leu3542Val)

SNV
Germline

Chr12:49034183

Conflicting classifications of pathogenicity

Kabuki syndrome 1
6 conditions

Criteria Provided
Conflicting Classifications

rs_1943099362

2 SubmittersRCV001254684 RCV002468626

NM_003482.4(KMT2D):c.6638G>A (p.Gly2213Asp)

SNV
Germline

Chr12:49041132

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_368767696

3 SubmittersRCV001254693 RCV001879916 RCV003130235

NM_003482.4(KMT2D):c.935C>A (p.Ala312Asp)

SNV
Germline

Chr12:49053226

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder
Kabuki syndrome 1

Criteria Provided
Conflicting Classifications

rs_750484458

3 SubmittersRCV002570582 RCV004545157 RCV004799365

NM_001291415.2(KDM6A):c.3409G>A (p.Gly1137Arg)

SNV
Germline

ChrX:45082758

Likely pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

rs_2045472713

1 SubmittersRCV001258336

NM_003482.4(KMT2D):c.16412+5G>C

SNV
Unknown

Chr12:49022275

Likely pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1942367824

1 SubmittersRCV001261215

NM_003482.4(KMT2D):c.14076-1G>A

SNV
Germline

Chr12:49029237

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1942763268

1 SubmittersRCV001261345

NM_003482.4(KMT2D):c.8366+2T>C

SNV
Germline

Chr12:49039220

Likely pathogenic

Kabuki syndrome 1
Condition: not provided

Criteria Provided
Single Submitter

rs_1943368267

2 SubmittersRCV001261271 RCV001815528

NM_003482.4(KMT2D):c.5867+5G>A

SNV
Germline

Chr12:49042556

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1943591477

1 SubmittersRCV001261327

NM_003482.4(KMT2D):c.3906+2T>C

SNV
Germline

Chr12:49049680

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1937804892

1 SubmittersRCV001261259

NM_003482.4(KMT2D):c.1259-14T>A

SNV
Unknown

Chr12:49052438

Likely pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_199555464

1 SubmittersRCV001261311

NM_003482.4(KMT2D):c.400+2T>C

SNV
Unknown

Chr12:49054526

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1938283570

1 SubmittersRCV001261260

NM_001291415.2(KDM6A):c.443+5G>C

SNV
Germline

ChrX:45011024

Pathogenic

Kabuki syndrome 2

No Assertion Criteria Provided

rs_2041729565

1 SubmittersRCV001261238

NM_001291415.2(KDM6A):c.564+1G>T

SNV
Germline

ChrX:45020731

Pathogenic

Kabuki syndrome 2

No Assertion Criteria Provided

rs_2042138847

1 SubmittersRCV001261240

NM_001291415.2(KDM6A):c.619+6T>C

SNV
Germline

ChrX:45034991

Pathogenic

Kabuki syndrome 2

No Assertion Criteria Provided

rs_2042747021

1 SubmittersRCV001261241

NM_001291415.2(KDM6A):c.620-2A>G

SNV
Germline

ChrX:45037653

Pathogenic

Kabuki syndrome 2

No Assertion Criteria Provided

rs_2042875800

1 SubmittersRCV001261278

NM_001291415.2(KDM6A):c.875+1G>A

SNV
Unknown

ChrX:45053956

Pathogenic

Kabuki syndrome 2

No Assertion Criteria Provided

rs_2043963299

1 SubmittersRCV001261232

NM_001291415.2(KDM6A):c.3095-1G>T

SNV
Unknown

ChrX:45079145

Likely pathogenic

Kabuki syndrome 2

No Assertion Criteria Provided

rs_2045273679

1 SubmittersRCV001261235

NM_001291415.2(KDM6A):c.3590-2A>G

SNV
Germline

ChrX:45085863

Likely pathogenic

Kabuki syndrome 2

No Assertion Criteria Provided

rs_2045619034

1 SubmittersRCV001261279

NM_003482.4(KMT2D):c.15920C>G (p.Ser5307Ter)

SNV
Germline

Chr12:49024811

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1942494207

1 SubmittersRCV001261213

NM_003482.4(KMT2D):c.15781C>T (p.Gln5261Ter)

SNV
Germline

Chr12:49026185

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1942575636

1 SubmittersRCV001261212

NM_003482.4(KMT2D):c.15730A>T (p.Lys5244Ter)

SNV
Germline

Chr12:49026236

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1942579666

1 SubmittersRCV001261211

NM_003482.4(KMT2D):c.15673C>T (p.Arg5225Cys)

SNV
Germline

Chr12:49026293

Pathogenic

Kabuki syndrome 1
Condition: not provided
Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_1942584412

5 SubmittersRCV001261210 RCV001586096 RCV001880013 RCV004987012

NM_003482.4(KMT2D):c.15536G>T (p.Arg5179Leu)

SNV
Germline

Chr12:49026430

Likely pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_267607237

1 SubmittersRCV001261209

NM_003482.4(KMT2D):c.15349T>G (p.Cys5117Gly)

SNV
Germline

Chr12:49026617

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1942604482

1 SubmittersRCV001261208

NM_003482.4(KMT2D):c.15176A>G (p.His5059Arg)

SNV
Germline

Chr12:49026790

Likely pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1942615651

1 SubmittersRCV001261207

NM_003482.4(KMT2D):c.14873C>G (p.Ser4958Ter)

SNV
Germline

Chr12:49027093

Likely pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1942637043

1 SubmittersRCV001261348

NM_003482.4(KMT2D):c.14803G>T (p.Glu4935Ter)

SNV
Unknown

Chr12:49027163

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1404087769

1 SubmittersRCV001261347

NM_003482.4(KMT2D):c.13660C>T (p.Gln4554Ter)

SNV
Unknown

Chr12:49030904

Likely pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1942873615

1 SubmittersRCV001261343

NM_003482.4(KMT2D):c.13201C>T (p.Gln4401Ter)

SNV
Unknown

Chr12:49031504

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1942908701

1 SubmittersRCV001261313

NM_003482.4(KMT2D):c.12955A>T (p.Arg4319Ter)

SNV
Unknown

Chr12:49031750

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1942923153

1 SubmittersRCV001261339

NM_003482.4(KMT2D):c.12943C>T (p.Gln4315Ter)

SNV
Unknown

Chr12:49031762

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1942924286

1 SubmittersRCV001261338

NM_003482.4(KMT2D):c.12598C>T (p.Gln4200Ter)

SNV
Germline

Chr12:49032107

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1942949318

1 SubmittersRCV001261335

NM_003482.4(KMT2D):c.12301C>T (p.Gln4101Ter)

SNV
Germline

Chr12:49032404

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1942965341

1 SubmittersRCV001261332

NM_003482.4(KMT2D):c.11977C>T (p.Gln3993Ter)

SNV
Unknown

Chr12:49032728

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_749377569

1 SubmittersRCV001261309

NM_003482.4(KMT2D):c.11851C>T (p.Gln3951Ter)

SNV
Germline

Chr12:49032854

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1943001493

1 SubmittersRCV001261308

NM_003482.4(KMT2D):c.11827C>T (p.Gln3943Ter)

SNV
Germline

Chr12:49032878

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1943006802

1 SubmittersRCV001261307

NM_003482.4(KMT2D):c.11632C>T (p.Gln3878Ter)

SNV
Germline

Chr12:49033073

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1397969096

1 SubmittersRCV001261310

NM_003482.4(KMT2D):c.11203C>T (p.Gln3735Ter)

SNV
Germline

Chr12:49033502

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1943059195

1 SubmittersRCV001261302

NM_003482.4(KMT2D):c.10841C>G (p.Ser3614Ter)

SNV
Germline

Chr12:49033864

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_758877211

1 SubmittersRCV001261301

NM_003482.4(KMT2D):c.10740G>T (p.Gln3580His)

SNV
Germline

Chr12:49034067

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_398123700

1 SubmittersRCV001261276

NM_003482.4(KMT2D):c.10357C>T (p.Gln3453Ter)

SNV
Unknown

Chr12:49034665

Likely pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1943129966

1 SubmittersRCV001261275

NM_003482.4(KMT2D):c.9829C>T (p.Gln3277Ter)

SNV
Unknown

Chr12:49037527

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1943280408

1 SubmittersRCV001261274

NM_003482.4(KMT2D):c.9730G>T (p.Glu3244Ter)

SNV
Unknown

Chr12:49037626

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1258009682

1 SubmittersRCV001261351

NM_003482.4(KMT2D):c.9145C>G (p.Leu3049Val)

SNV
Unknown

Chr12:49038211

Likely pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1051646314

1 SubmittersRCV001261273

NM_003482.4(KMT2D):c.9022G>T (p.Glu3008Ter)

SNV
Unknown

Chr12:49038334

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1943323180

1 SubmittersRCV001261272

NM_003482.4(KMT2D):c.8780C>G (p.Ser2927Ter)

SNV
Germline

Chr12:49038576

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1943336569

1 SubmittersRCV001261350

NM_003482.4(KMT2D):c.8263A>T (p.Lys2755Ter)

SNV
Germline

Chr12:49039325

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1943374805

1 SubmittersRCV001261349

NM_003482.4(KMT2D):c.6962T>G (p.Leu2321Ter)

SNV
Unknown

Chr12:49040808

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1943478443

1 SubmittersRCV001261268

NM_003482.4(KMT2D):c.6622C>T (p.Gln2208Ter)

SNV
Germline

Chr12:49041148

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1943503824

1 SubmittersRCV001261267

NM_003482.4(KMT2D):c.6183G>A (p.Leu2061=)

SNV
Germline

Chr12:49041917

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1943551792

1 SubmittersRCV001261329

NM_003482.4(KMT2D):c.5983G>T (p.Gly1995Ter)

SNV
Germline

Chr12:49042215

Likely pathogenic

Kabuki syndrome 1
Condition: not provided

Criteria Provided
Single Submitter

rs_1393276376

2 SubmittersRCV001261328 RCV003145498

NM_003482.4(KMT2D):c.5764C>T (p.Gln1922Ter)

SNV
Germline

Chr12:49042759

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1943600170

1 SubmittersRCV001261265

NM_003482.4(KMT2D):c.4520G>A (p.Cys1507Tyr)

SNV
Germline

Chr12:49046323

Likely pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1943783240

1 SubmittersRCV001261326

NM_003482.4(KMT2D):c.4359C>A (p.His1453Gln)

SNV
Germline

Chr12:49046668

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_767737749

1 SubmittersRCV001261263

NM_003482.4(KMT2D):c.4171G>A (p.Glu1391Lys)

SNV
Unknown

Chr12:49048030

Likely pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1937658910

1 SubmittersRCV001261262

NM_003482.4(KMT2D):c.4093G>T (p.Val1365Phe)

SNV
Germline

Chr12:49048697

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_1937710190

1 SubmittersRCV001261261

NM_001291415.2(KDM6A):c.514C>T (p.Arg172Ter)

SNV
Germline

ChrX:45020680

Pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

rs_189751539

2 SubmittersRCV001261239

NM_001291415.2(KDM6A):c.2230C>T (p.Gln744Ter)

SNV
Germline

ChrX:45069729

Pathogenic

Kabuki syndrome 2

No Assertion Criteria Provided

rs_2044726547

1 SubmittersRCV001261234

NM_001291415.2(KDM6A):c.3229A>G (p.Ser1077Gly)

SNV
Germline

ChrX:45079280

Likely pathogenic

Kabuki syndrome 2

No Assertion Criteria Provided

rs_2045279014

1 SubmittersRCV001261236

NM_003482.4(KMT2D):c.859A>G (p.Lys287Glu)

SNV
Germline

Chr12:49053302

Conflicting classifications of pathogenicity

Kabuki syndrome
Kabuki syndrome 1
KMT2D-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_375915416

5 SubmittersRCV001363670 RCV001262241 RCV004758786 RCV003135900

NM_003482.4(KMT2D):c.15275G>T (p.Cys5092Phe)

SNV
Germline

Chr12:49026691

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1942609986

1 SubmittersRCV001265549

NM_001291415.2(KDM6A):c.1192C>T (p.Gln398Ter)

SNV
Germline

ChrX:45059464

Pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

rs_2044215489

1 SubmittersRCV001265643

NM_001291415.2(KDM6A):c.1990C>T (p.Arg664Ter)

SNV
Germline

ChrX:45063728

Pathogenic

Inborn genetic diseases
Condition: not provided
Kabuki syndrome 2
Kabuki syndrome 2
Kabuki syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2044403163

4 SubmittersRCV001265857 RCV001546647 RCV001382692 RCV002504381

NM_003482.4(KMT2D):c.16442G>A (p.Cys5481Tyr)

SNV
Germline

Chr12:49022122

Pathogenic/Likely pathogenic

Condition: not provided
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1388523736

2 SubmittersRCV001268118 RCV001880162

NM_001291415.2(KDM6A):c.749-2A>G

SNV
Germline

ChrX:45053827

Pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

rs_2043958892

1 SubmittersRCV001270443

NM_003482.4(KMT2D):c.10744C>T (p.Arg3582Trp)

SNV
Germline

Chr12:49033961

Pathogenic/Likely pathogenic

Kabuki syndrome 1
Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1943085639

5 SubmittersRCV001270728 RCV001550815 RCV003770415 RCV003985023

NM_003482.4(KMT2D):c.10595T>C (p.Ile3532Thr)

SNV
Germline

Chr12:49034212

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Condition: not provided
Kabuki syndrome
Kabuki syndrome 1
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

Criteria Provided
Conflicting Classifications

rs_1943100257

4 SubmittersRCV001270729 RCV001550716 RCV001880218 RCV003224539

NM_003482.4(KMT2D):c.6440C>T (p.Ala2147Val)

SNV
Germline

Chr12:49041330

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome
Kabuki syndrome 1
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_764604229

3 SubmittersRCV001280990 RCV001871625 RCV003224544 RCV004545173

NM_003482.4(KMT2D):c.5423G>A (p.Gly1808Glu)

SNV
Germline

Chr12:49043679

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome
Kabuki syndrome 1
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

Criteria Provided
Conflicting Classifications

rs_765343914

2 SubmittersRCV001280991 RCV002537909 RCV003224545

NM_003482.4(KMT2D):c.9499C>T (p.Arg3167Trp)

SNV
Germline

Chr12:49037857

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_370155635

3 SubmittersRCV001289095 RCV001863152

NM_001291415.2(KDM6A):c.65A>C (p.Glu22Ala)

SNV
Germline

ChrX:44873616

Conflicting classifications of pathogenicity

Kabuki syndrome 2

Criteria Provided
Conflicting Classifications

rs_760601613

2 SubmittersRCV001291708

NM_003482.4(KMT2D):c.13627G>T (p.Asp4543Tyr)

SNV
Germline

Chr12:49030937

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_772023360

3 SubmittersRCV001294276 RCV003389865 RCV004531074

NM_003482.4(KMT2D):c.12977C>G (p.Pro4326Arg)

SNV
Germline

Chr12:49031728

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1038898344

2 SubmittersRCV001301555 RCV002473259

NM_003482.4(KMT2D):c.4843C>T (p.Arg1615Ter)

SNV
Germline

Chr12:49044864

Pathogenic

Condition: not provided
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1943714221

3 SubmittersRCV001310647 RCV002543557

NM_003482.4(KMT2D):c.15878T>C (p.Leu5293Pro)

SNV
Germline

Chr12:49024853

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_1942496967

1 SubmittersRCV001320427

NM_003482.4(KMT2D):c.1459C>T (p.Arg487Trp)

SNV
Germline

Chr12:49052224

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_367559440

2 SubmittersRCV001326871 RCV004528468

NM_003482.4(KMT2D):c.11320C>T (p.Gln3774Ter)

SNV
Germline

Chr12:49033385

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_2120442365

1 SubmittersRCV001645009

NM_003482.4(KMT2D):c.5468-1G>A

SNV
Germline

Chr12:49043429

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_759629535

1 SubmittersRCV001645012

NM_003482.4(KMT2D):c.14075+8C>T

SNV
Germline

Chr12:49029393

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_962057732

2 SubmittersRCV001332276 RCV003753175

NM_003482.4(KMT2D):c.10027C>G (p.Leu3343Val)

SNV
Germline

Chr12:49037329

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_1299043216

2 SubmittersRCV001332272 RCV002546543

NM_003482.4(KMT2D):c.8245G>A (p.Val2749Met)

SNV
Germline

Chr12:49039343

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_376888531

2 SubmittersRCV001329082 RCV002546304

NM_003482.4(KMT2D):c.8241C>A (p.Ser2747Arg)

SNV
Germline

Chr12:49039347

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_1943376258

2 SubmittersRCV001329081 RCV002546303

NM_003482.4(KMT2D):c.6110-2A>G

SNV
Unknown

Chr12:49041992

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1943556576

1 SubmittersRCV001329080

NM_003482.4(KMT2D):c.13463A>G (p.Asn4488Ser)

SNV
Germline

Chr12:49031242

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_779247029

3 SubmittersRCV001336041 RCV001534524 RCV001871881

NM_003482.4(KMT2D):c.9128A>G (p.Asn3043Ser)

SNV
Germline

Chr12:49038228

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_746344900

2 SubmittersRCV001336573 RCV002546785

NM_003482.4(KMT2D):c.7463C>T (p.Ser2488Leu)

SNV
Germline

Chr12:49040307

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_779629382

3 SubmittersRCV001336049 RCV001865842 RCV002546757

NM_003482.4(KMT2D):c.5084-17A>G

SNV
Germline

Chr12:49044321

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_368795536

2 SubmittersRCV001336047 RCV002547347

NM_003482.4(KMT2D):c.181G>A (p.Gly61Ser)

SNV
Germline

Chr12:49054747

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_1938304119

3 SubmittersRCV001336043 RCV003120561 RCV004531123

NM_003482.4(KMT2D):c.12229C>T (p.Leu4077Phe)

SNV
Germline

Chr12:49032476

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided
Kabuki syndrome 1
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_774148221

5 SubmittersRCV001343260 RCV001587362 RCV001843586 RCV004528471

NM_003482.4(KMT2D):c.12911C>T (p.Pro4304Leu)

SNV
Germline

Chr12:49031794

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_760819349

2 SubmittersRCV001364443 RCV004531166

NM_003482.4(KMT2D):c.8096C>G (p.Thr2699Ser)

SNV
Germline

Chr12:49039568

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_983427248

2 SubmittersRCV001371116 RCV004597990

NM_003482.4(KMT2D):c.251G>A (p.Arg84His)

SNV
Germline

Chr12:49054677

Conflicting classifications of pathogenicity

Kabuki syndrome
Kabuki syndrome 1
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_780096090

3 SubmittersRCV001366060 RCV002488131 RCV004531169

NM_003482.4(KMT2D):c.16339-1G>C

SNV
Germline

Chr12:49022354

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_2137705201

1 SubmittersRCV001377530

NM_003482.4(KMT2D):c.15922-2A>G

SNV
Germline

Chr12:49024710

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_2137710791

1 SubmittersRCV001378226

NM_003482.4(KMT2D):c.3907-1G>A

SNV
Germline

Chr12:49049219

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_2120632521

1 SubmittersRCV001378047

NM_001291415.2(KDM6A):c.2858+1G>A

SNV
Germline

ChrX:45070358

Pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

rs_2148058653

1 SubmittersRCV001378320

NM_001291415.2(KDM6A):c.3366-1G>A

SNV
Germline

ChrX:45082714

Conflicting classifications of pathogenicity

Kabuki syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1374292312

2 SubmittersRCV001377333 RCV001762661

NM_003482.4(KMT2D):c.15785-1G>C

SNV
Germline

Chr12:49024947

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_2137712168

1 SubmittersRCV001387778

NM_003482.4(KMT2D):c.11578C>T (p.Gln3860Ter)

SNV
Germline

Chr12:49033127

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_1371371699

1 SubmittersRCV001380338

NM_001291415.2(KDM6A):c.348C>A (p.Tyr116Ter)

SNV
Germline

ChrX:44974679

Pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

rs_2147263638

1 SubmittersRCV001384329

NM_001291415.2(KDM6A):c.565-1G>A

SNV
Germline

ChrX:45034930

Pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

rs_2147776373

1 SubmittersRCV001384092

NM_003482.4(KMT2D):c.10919G>A (p.Gly3640Glu)

SNV
Germline

Chr12:49033786

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_776329238

2 SubmittersRCV001402815 RCV004546648

NM_001291415.2(KDM6A):c.2900T>C (p.Leu967Ser)

SNV
Germline

ChrX:45076738

Conflicting classifications of pathogenicity

Kabuki syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_199761905

3 SubmittersRCV001511993 RCV001664913

NM_003482.4(KMT2D):c.4840C>T (p.Arg1614Trp)

SNV
Germline

Chr12:49044867

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
Kabuki syndrome 1

Criteria Provided
Conflicting Classifications

rs_375118713

3 SubmittersRCV001532690 RCV003588742 RCV004785267

NM_003482.4(KMT2D):c.16214G>A (p.Arg5405His)

SNV
Germline

Chr12:49022714

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
Inborn genetic diseases
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_566674356

5 SubmittersRCV001538979 RCV002568246 RCV003246980 RCV004528508

NM_003482.4(KMT2D):c.6255C>A (p.Asn2085Lys)

SNV
Germline

Chr12:49041515

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_200406127

3 SubmittersRCV001538646 RCV002071941 RCV004536165

NM_003482.4(KMT2D):c.10946G>T (p.Gly3649Val)

SNV
Germline

Chr12:49033759

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_1943073751

3 SubmittersRCV001542339 RCV002568946

NM_003482.4(KMT2D):c.1276C>T (p.Leu426Phe)

SNV
Germline

Chr12:49052407

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_750774484

2 SubmittersRCV001542365 RCV002568947

NM_003482.4(KMT2D):c.326T>C (p.Val109Ala)

SNV
Germline

Chr12:49054602

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_772169265

2 SubmittersRCV001542298 RCV002568943

NM_003482.4(KMT2D):c.12946G>T (p.Glu4316Ter)

SNV
Germline

Chr12:49031759

Likely pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_2120423939

1 SubmittersRCV001542682

NM_003482.4(KMT2D):c.11461C>T (p.Gln3821Ter)

SNV
Germline

Chr12:49033244

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_2120441127

1 SubmittersRCV001543602

NM_003482.4(KMT2D):c.14250A>T (p.Pro4750=)

SNV
Germline

Chr12:49029062

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_766829760

3 SubmittersRCV001551553 RCV002568332 RCV004542002

NM_003482.4(KMT2D):c.6109G>C (p.Asp2037His)

SNV
Germline

Chr12:49042089

Likely pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_2120552716

1 SubmittersRCV001554340

NM_003482.4(KMT2D):c.5821A>G (p.Met1941Val)

SNV
Germline

Chr12:49042607

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_372271746

6 SubmittersRCV001555441 RCV001821879 RCV002072074 RCV004758811

NM_003482.4(KMT2D):c.15668A>G (p.Asn5223Ser)

SNV
Germline

Chr12:49026298

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_779303083

4 SubmittersRCV001561199 RCV001821889 RCV002568407

NM_003482.4(KMT2D):c.9485G>A (p.Gly3162Asp)

SNV
Germline

Chr12:49037871

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
Inborn genetic diseases
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_773802581

4 SubmittersRCV001563177 RCV001865985 RCV004039331 RCV004536190

NM_003482.4(KMT2D):c.8339C>T (p.Thr2780Met)

SNV
Germline

Chr12:49039249

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_770978212

3 SubmittersRCV001560553 RCV002568402 RCV004536182

NM_003482.4(KMT2D):c.1463C>T (p.Pro488Leu)

SNV
Germline

Chr12:49052220

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_763729848

4 SubmittersRCV001563469 RCV001865987 RCV004758813

NM_003482.4(KMT2D):c.14643+3A>T

SNV
Germline

Chr12:49027800

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_374232950

4 SubmittersRCV001568238 RCV003588746 RCV004542015

NM_003482.4(KMT2D):c.5285G>C (p.Ser1762Thr)

SNV
Germline

Chr12:49043902

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
Kabuki syndrome 1
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_777604931

4 SubmittersRCV001568727 RCV002072187 RCV002072186 RCV004542016

NM_001291415.2(KDM6A):c.3095-6A>C

SNV
Germline

ChrX:45079140

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome 2

Criteria Provided
Conflicting Classifications

rs_2148117604

2 SubmittersRCV001578179 RCV002072277

NM_001291415.2(KDM6A):c.2018G>A (p.Arg673His)

SNV
Germline

ChrX:45063756

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome 2
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_369284316

5 SubmittersRCV001579524 RCV001866091 RCV003399389 RCV002573249

NM_003482.4(KMT2D):c.7220C>T (p.Pro2407Leu)

SNV
Germline

Chr12:49040550

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_557710295

2 SubmittersRCV001589474 RCV003588749

NM_003482.4(KMT2D):c.4942G>A (p.Asp1648Asn)

SNV
Germline

Chr12:49044765

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_779260688

2 SubmittersRCV001591657 RCV002573301

NM_003482.4(KMT2D):c.13331G>C (p.Gly4444Ala)

SNV
Germline

Chr12:49031374

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_748820389

4 SubmittersRCV001592638 RCV004039530 RCV003753186 RCV004758818

NM_003482.4(KMT2D):c.3190G>A (p.Val1064Ile)

SNV
Germline

Chr12:49050398

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Kabuki syndrome 1
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_755939422

5 SubmittersRCV001665369 RCV002538545 RCV003234088 RCV003753189 RCV004536242

NM_003482.4(KMT2D):c.15311G>T (p.Cys5104Phe)

SNV
Germline

Chr12:49026655

Likely pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

rs_2120361380

1 SubmittersRCV001644561

NM_003482.4(KMT2D):c.7787C>T (p.Pro2596Leu)

SNV
Germline

Chr12:49039983

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_756597120

2 SubmittersRCV001663454 RCV002032648

NM_003482.4(KMT2D):c.4392C>A (p.Val1464=)

SNV
Germline

Chr12:49046635

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_758265897

5 SubmittersRCV001702317 RCV001821958 RCV002077162

NM_003482.4(KMT2D):c.6929C>A (p.Pro2310His)

SNV
Germline

Chr12:49040841

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_752346893

2 SubmittersRCV001732325 RCV002032714

NM_003482.4(KMT2D):c.13402C>T (p.Arg4468Trp)

SNV
Germline

Chr12:49031303

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_761717148

3 SubmittersRCV001756415 RCV002539866 RCV004536278

NM_003482.4(KMT2D):c.16521G>C (p.Glu5507Asp)

SNV
Germline

Chr12:49022043

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome 1

Criteria Provided
Conflicting Classifications

rs_2137703473

2 SubmittersRCV001758287 RCV003314015

NM_003482.4(KMT2D):c.7205C>T (p.Ser2402Leu)

SNV
Germline

Chr12:49040565

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_750003992

2 SubmittersRCV001751997 RCV003588760

NM_003482.4(KMT2D):c.620T>A (p.Met207Lys)

SNV
Germline

Chr12:49054031

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_757625928

3 SubmittersRCV001756802 RCV003753195 RCV004758826

NM_001291415.2(KDM6A):c.203G>C (p.Arg68Thr)

SNV
Germline

ChrX:44873965

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome 2

Criteria Provided
Conflicting Classifications

rs_751146386

2 SubmittersRCV001756838 RCV001882898

NM_003482.4(KMT2D):c.15071A>G (p.Lys5024Arg)

SNV
Germline

Chr12:49026895

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_761129445

2 SubmittersRCV001752706 RCV003772015

NM_003482.4(KMT2D):c.2110G>T (p.Asp704Tyr)

SNV
Germline

Chr12:49051573

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_761977604

2 SubmittersRCV001752750 RCV003753198

NM_003482.4(KMT2D):c.13834A>T (p.Thr4612Ser)

SNV
Germline

Chr12:49030606

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_747600863

2 SubmittersRCV001758605 RCV003753196

NM_001291415.2(KDM6A):c.2251C>T (p.Leu751Phe)

SNV
Germline

ChrX:45069750

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome 2

Criteria Provided
Conflicting Classifications

rs_2148039110

2 SubmittersRCV001758638 RCV003642975

NM_003482.4(KMT2D):c.13019A>T (p.His4340Leu)

SNV
Germline

Chr12:49031686

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_770911238

2 SubmittersRCV001767898 RCV003772001

NM_001291415.2(KDM6A):c.4217A>G (p.Tyr1406Cys)

SNV
Germline

ChrX:45110134

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome 2

Criteria Provided
Conflicting Classifications

rs_375096245

2 SubmittersRCV001761345 RCV003528328

NM_003482.4(KMT2D):c.5192T>C (p.Ile1731Thr)

SNV
Germline

Chr12:49043995

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_970144947

3 SubmittersRCV001774440 RCV002540477 RCV004988731

NM_003482.4(KMT2D):c.6223A>C (p.Lys2075Gln)

SNV
Germline

Chr12:49041666

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
Inborn genetic diseases
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_1449262096

4 SubmittersRCV001769362 RCV001868605 RCV004040274 RCV004758827

NM_003482.4(KMT2D):c.9431C>T (p.Ala3144Val)

SNV
Germline

Chr12:49037925

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_558965718

2 SubmittersRCV001772946 RCV002540554

NM_001291415.2(KDM6A):c.2306A>C (p.Glu769Ala)

SNV
Germline

ChrX:45069805

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome 2

Criteria Provided
Conflicting Classifications

rs_887019370

2 SubmittersRCV001774718 RCV001885076

NM_003482.4(KMT2D):c.15104G>A (p.Cys5035Tyr)

SNV
Germline

Chr12:49026862

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_398123723

1 SubmittersRCV001775289

NM_001291415.2(KDM6A):c.3793C>T (p.Arg1265Ter)

SNV
Germline

ChrX:45089831

Pathogenic/Likely pathogenic

Kabuki syndrome 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2148193855

2 SubmittersRCV001782333 RCV004728816

NM_001291415.2(KDM6A):c.149G>A (p.Gly50Asp)

SNV
Germline

ChrX:44873700

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_923984398

3 SubmittersRCV001800030 RCV002541333 RCV004988752

NM_003482.4(KMT2D):c.5407A>G (p.Thr1803Ala)

SNV
Germline

Chr12:49043695

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_1217603879

3 SubmittersRCV001806563 RCV001869484 RCV004536323

NM_003482.4(KMT2D):c.15908G>A (p.Arg5303His)

SNV
Germline

Chr12:49024823

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_369156879

2 SubmittersRCV001806612 RCV001885252

NM_003482.4(KMT2D):c.4987G>T (p.Glu1663Ter)

SNV
Germline

Chr12:49044499

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_192216625

1 SubmittersRCV001807907

NM_003482.4(KMT2D):c.11731C>T (p.Gln3911Ter)

SNV
Germline

Chr12:49032974

Pathogenic

Kabuki syndrome 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_2120437427

4 SubmittersRCV001808846 RCV002256842 RCV004988761

NM_001291415.2(KDM6A):c.2491C>T (p.Gln831Ter)

SNV
Germline

ChrX:45069990

Likely pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

rs_2148047495

1 SubmittersRCV001808850

NM_003482.4(KMT2D):c.2488G>T (p.Glu830Ter)

SNV
Germline

Chr12:49051195

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1286510393

1 SubmittersRCV001809116

NM_003482.4(KMT2D):c.4138T>C (p.Cys1380Arg)

SNV
Germline

Chr12:49048063

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_2120621227

1 SubmittersRCV001809117

NM_003482.4(KMT2D):c.13804A>G (p.Thr4602Ala)

SNV
Germline

Chr12:49030636

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_1187814622

2 SubmittersRCV001815741 RCV002542469

NM_003482.4(KMT2D):c.7108C>T (p.Arg2370Cys)

SNV
Germline

Chr12:49040662

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_1028524252

3 SubmittersRCV001819353 RCV001869688 RCV004529020

NM_003482.4(KMT2D):c.825G>A (p.Val275=)

SNV
Germline

Chr12:49053490

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_200767468

2 SubmittersRCV001819448 RCV003588771

NM_003482.4(KMT2D):c.14839C>T (p.Pro4947Ser)

SNV
Germline

Chr12:49027127

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_1406097470

2 SubmittersRCV001819465 RCV003753206

NM_003482.4(KMT2D):c.6501G>A (p.Val2167=)

SNV
Germline

Chr12:49041269

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_751139032

2 SubmittersRCV001820231 RCV002074322

NM_003482.4(KMT2D):c.7377C>T (p.Ser2459=)

SNV
Germline

Chr12:49040393

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_1208811629

2 SubmittersRCV001820676 RCV003753209

NM_003482.4(KMT2D):c.9430G>A (p.Ala3144Thr)

SNV
Germline

Chr12:49037926

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome
KMT2D-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_752428122

4 SubmittersRCV001822398 RCV001869750 RCV004536342 RCV004988769

NM_003482.4(KMT2D):c.6821C>T (p.Ser2274Leu)

SNV
Germline

Chr12:49040949

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_767236217

3 SubmittersRCV001822424 RCV001869753 RCV004542132

NM_003482.4(KMT2D):c.7498G>A (p.Ala2500Thr)

SNV
Germline

Chr12:49040272

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_746638965

3 SubmittersRCV001822629 RCV001869765 RCV004536345

NM_003482.4(KMT2D):c.12664C>G (p.Leu4222Val)

SNV
Germline

Chr12:49032041

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_375330730

2 SubmittersRCV001822645 RCV001869766

NM_003482.4(KMT2D):c.14771C>T (p.Ser4924Phe)

SNV
Germline

Chr12:49027195

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_771209224

2 SubmittersRCV001837294 RCV001869844

NM_003482.4(KMT2D):c.15560C>G (p.Ala5187Gly)

SNV
Germline

Chr12:49026406

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_770452569

2 SubmittersRCV001843634 RCV001885390

NM_003482.4(KMT2D):c.15689G>A (p.Cys5230Tyr)

SNV
Germline

Chr12:49026277

Pathogenic

Vein of Galen aneurysmal malformation
Kabuki syndrome

Criteria Provided
Single Submitter

rs_2137715091

2 SubmittersRCV001849638 RCV002034773

NM_003482.4(KMT2D):c.14395G>A (p.Val4799Met)

SNV
Germline

Chr12:49028129

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_373731411

2 SubmittersRCV001913727 RCV004720973

NM_003482.4(KMT2D):c.11690T>C (p.Leu3897Ser)

SNV
Germline

Chr12:49033015

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder
Kabuki syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1342235871

4 SubmittersRCV002002120 RCV004538653 RCV002503667 RCV002562094

NM_001291415.2(KDM6A):c.2405A>T (p.His802Leu)

SNV
Germline

ChrX:45069904

Conflicting classifications of pathogenicity

Kabuki syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_756545808

2 SubmittersRCV001931665 RCV003481206

NM_003482.4(KMT2D):c.9101A>G (p.Asn3034Ser)

SNV
Germline

Chr12:49038255

Conflicting classifications of pathogenicity

Kabuki syndrome
Kabuki syndrome 1

Criteria Provided
Conflicting Classifications

rs_748817042

2 SubmittersRCV001924154 RCV004821319

NM_003482.4(KMT2D):c.5189-1G>C

SNV
Germline

Chr12:49043999

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_2120577091

1 SubmittersRCV001991888

NM_003482.4(KMT2D):c.9377G>T (p.Gly3126Val)

SNV
Germline

Chr12:49037979

Conflicting classifications of pathogenicity

Kabuki syndrome
Kabuki syndrome 1

Criteria Provided
Conflicting Classifications

rs_772418918

2 SubmittersRCV002036678 RCV004821322

NM_001291415.2(KDM6A):c.2284C>T (p.Gln762Ter)

SNV
Germline

ChrX:45069783

Pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

rs_1358181248

1 SubmittersRCV001864991

NM_003482.4(KMT2D):c.6464C>T (p.Ser2155Leu)

SNV
Germline

Chr12:49041306

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_776944266

2 SubmittersRCV001872220 RCV004693809

NM_003482.4(KMT2D):c.15077C>T (p.Pro5026Leu)

SNV
Germline

Chr12:49026889

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_957154857

3 SubmittersRCV001953204 RCV004542193 RCV004694031

NM_003482.4(KMT2D):c.5524G>A (p.Asp1842Asn)

SNV
Germline

Chr12:49043372

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1399516081

2 SubmittersRCV001875465 RCV003389885

NM_003482.4(KMT2D):c.2992C>G (p.Pro998Ala)

SNV
Germline

Chr12:49050596

Conflicting classifications of pathogenicity

Kabuki syndrome
Kabuki syndrome 1

Criteria Provided
Conflicting Classifications

rs_143711798

2 SubmittersRCV002031635 RCV004584943

NM_003482.4(KMT2D):c.866T>A (p.Leu289Ter)

SNV
Germline

Chr12:49053295

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_2120694782

1 SubmittersRCV001907332

NM_001291415.2(KDM6A):c.225+1G>A

SNV
Germline

ChrX:44873988

Pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

rs_2146448773

1 SubmittersRCV002002778

NM_003482.4(KMT2D):c.12893C>T (p.Thr4298Ile)

SNV
Germline

Chr12:49031812

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_377128722

3 SubmittersRCV001905374 RCV002222734 RCV004758832

NM_003482.4(KMT2D):c.14684C>T (p.Thr4895Ile)

SNV
Germline

Chr12:49027282

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_991956504

2 SubmittersRCV001893198 RCV004809692

NM_003482.4(KMT2D):c.6508C>G (p.Gln2170Glu)

SNV
Germline

Chr12:49041262

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_758743247

2 SubmittersRCV001970897 RCV004529071

NM_003482.4(KMT2D):c.9260G>A (p.Arg3087Gln)

SNV
Germline

Chr12:49038096

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1233005055

3 SubmittersRCV001982430 RCV004542194 RCV004631857

NM_003482.4(KMT2D):c.7526A>G (p.Lys2509Arg)

SNV
Germline

Chr12:49040244

Conflicting classifications of pathogenicity

Kabuki syndrome
Kabuki syndrome 1
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_1373179700

3 SubmittersRCV001996971 RCV002479560 RCV004538671

NM_003482.4(KMT2D):c.1363G>T (p.Glu455Ter)

SNV
Germline

Chr12:49052320

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_2120685231

1 SubmittersRCV001958846

NM_003482.4(KMT2D):c.10193T>A (p.Met3398Lys)

SNV
Germline

Chr12:49037163

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_774540578

2 SubmittersRCV002042566 RCV004763305

NM_003482.4(KMT2D):c.688G>A (p.Ala230Thr)

SNV
Germline

Chr12:49053627

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_758710579

2 SubmittersRCV002020049 RCV004538726

NM_003482.4(KMT2D):c.13924G>A (p.Val4642Ile)

SNV
Germline

Chr12:49030355

Conflicting classifications of pathogenicity

Kabuki syndrome
Kabuki syndrome 1
Condition: not provided
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_200638996

4 SubmittersRCV001926414 RCV002484571 RCV004546687 RCV004758847

NM_003482.4(KMT2D):c.5782+1G>A

SNV
Germline

Chr12:49042740

Conflicting classifications of pathogenicity

Kabuki syndrome
Kabuki syndrome 1

Criteria Provided
Conflicting Classifications

rs_766123066

2 SubmittersRCV002006598 RCV002509742

NM_003482.4(KMT2D):c.10745G>A (p.Arg3582Gln)

SNV
Germline

Chr12:49033960

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

Criteria Provided
Conflicting Classifications

rs_2120449499

3 SubmittersRCV001922541 RCV002509715 RCV004801081

NM_003482.4(KMT2D):c.273G>A (p.Trp91Ter)

SNV
Germline

Chr12:49054655

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_2120712071

1 SubmittersRCV002000093

NM_003482.4(KMT2D):c.6180C>A (p.Tyr2060Ter)

SNV
Germline

Chr12:49041920

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_186577948

1 SubmittersRCV002007499

NM_001291415.2(KDM6A):c.1177C>T (p.Arg393Ter)

SNV
Germline

ChrX:45059449

Pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

rs_2147963446

1 SubmittersRCV002007550

NM_001291415.2(KDM6A):c.2858+2T>C

SNV
Germline

ChrX:45070359

Pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

rs_2148058668

1 SubmittersRCV001960713

NM_003482.4(KMT2D):c.15397T>C (p.Cys5133Arg)

SNV
Germline

Chr12:49026569

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_2120360235

1 SubmittersRCV002018131

NM_003482.4(KMT2D):c.14836G>A (p.Val4946Ile)

SNV
Germline

Chr12:49027130

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_756017412

3 SubmittersRCV002046281 RCV003134367 RCV004538748

NM_003482.4(KMT2D):c.3895C>T (p.Arg1299Cys)

SNV
Germline

Chr12:49049693

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_773797737

2 SubmittersRCV001876758 RCV004529030

NM_003482.4(KMT2D):c.1970C>T (p.Pro657Leu)

SNV
Germline

Chr12:49051713

Conflicting classifications of pathogenicity

Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_779943229

2 SubmittersRCV001967238 RCV002560634

NM_003482.4(KMT2D):c.16013G>A (p.Cys5338Tyr)

SNV
Germline

Chr12:49024617

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_2137710573

1 SubmittersRCV001951215

NM_003482.4(KMT2D):c.13010C>G (p.Pro4337Arg)

SNV
Germline

Chr12:49031695

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_369802222

2 SubmittersRCV002030052 RCV004536358

NM_003482.4(KMT2D):c.7831C>T (p.Arg2611Cys)

SNV
Germline

Chr12:49039939

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_572359740

2 SubmittersRCV001913232 RCV002307788

NM_003482.4(KMT2D):c.3122A>G (p.Gln1041Arg)

SNV
Germline

Chr12:49050466

Conflicting classifications of pathogenicity

Kabuki syndrome
not specified
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_112615033

3 SubmittersRCV001894183 RCV004699505 RCV004542146

NM_001291415.2(KDM6A):c.706A>C (p.Asn236His)

SNV
Germline

ChrX:45051760

Conflicting classifications of pathogenicity

Kabuki syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_780484731

2 SubmittersRCV001900338 RCV003148997

NM_003482.4(KMT2D):c.7327C>T (p.Arg2443Cys)

SNV
Germline

Chr12:49040443

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_371053017

2 SubmittersRCV001964725 RCV003395294

NM_003482.4(KMT2D):c.14891G>A (p.Arg4964His)

SNV
Germline

Chr12:49027075

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_777093715

2 SubmittersRCV001925097 RCV004779181

NM_003482.4(KMT2D):c.15536G>C (p.Arg5179Pro)

SNV
Germline

Chr12:49026430

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_267607237

1 SubmittersRCV002026116

NM_003482.4(KMT2D):c.970C>T (p.Arg324Trp)

SNV
Germline

Chr12:49053057

Conflicting classifications of pathogenicity

Kabuki syndrome
Inborn genetic diseases
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_1370093761

3 SubmittersRCV001931857 RCV002548029 RCV004536388

NM_003482.4(KMT2D):c.12964C>T (p.Gln4322Ter)

SNV
Germline

Chr12:49031741

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_376217891

1 SubmittersRCV001982947

NM_003482.4(KMT2D):c.3872G>A (p.Arg1291Gln)

SNV
Germline

Chr12:49049716

Conflicting classifications of pathogenicity

Kabuki syndrome
Kabuki syndrome 1

Criteria Provided
Conflicting Classifications

rs_369794887

2 SubmittersRCV001903608 RCV002484410

NM_003482.4(KMT2D):c.7595C>T (p.Ser2532Phe)

SNV
Germline

Chr12:49040175

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_749781307

2 SubmittersRCV001934869 RCV002272510

NM_003482.4(KMT2D):c.10740+1G>A

SNV
Germline

Chr12:49034066

Pathogenic

Kabuki syndrome
Kabuki syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2120450900

2 SubmittersRCV001975051 RCV004776453

NM_003482.4(KMT2D):c.10416C>G (p.Asn3472Lys)

SNV
Germline

Chr12:49034606

Conflicting classifications of pathogenicity

Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_773424975

2 SubmittersRCV002001975 RCV002561537

NM_003482.4(KMT2D):c.10690C>T (p.Leu3564Phe)

SNV
Germline

Chr12:49034117

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

rs_2120452029

1 SubmittersRCV001962565

NM_003482.4(KMT2D):c.5431G>A (p.Gly1811Ser)

SNV
Germline

Chr12:49043671

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_369800371

2 SubmittersRCV001940175 RCV003134233

NM_003482.4(KMT2D):c.13645G>A (p.Glu4549Lys)

SNV
Germline

Chr12:49030919

Conflicting classifications of pathogenicity

Kabuki syndrome
Kabuki syndrome 1

Criteria Provided
Conflicting Classifications

rs_1238014538

2 SubmittersRCV001916316 RCV002484456

NM_003482.4(KMT2D):c.10538G>A (p.Trp3513Ter)

SNV
Germline

Chr12:49034269

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_2120455070

1 SubmittersRCV002071026

NM_003482.4(KMT2D):c.10523G>A (p.Arg3508Gln)

SNV
Germline

Chr12:49034284

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_772010347

3 SubmittersRCV002217120 RCV003130688 RCV004531325

NM_001291415.2(KDM6A):c.1952C>T (p.Thr651Ile)

SNV
Germline

ChrX:45063690

Conflicting classifications of pathogenicity

Kabuki syndrome 2
See cases

Criteria Provided
Conflicting Classifications

rs_773022554

2 SubmittersRCV002085397 RCV004584462

NM_003482.4(KMT2D):c.10342C>T (p.Pro3448Ser)

SNV
Germline

Chr12:49034825

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_752712305

3 SubmittersRCV002090559 RCV003130689

NM_003482.4(KMT2D):c.14555C>T (p.Thr4852Ile)

SNV
Germline

Chr12:49027891

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_201597771

2 SubmittersRCV002095789 RCV004531372

NM_003482.4(KMT2D):c.7332C>A (p.Phe2444Leu)

SNV
Germline

Chr12:49040438

Conflicting classifications of pathogenicity

Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1252563449

2 SubmittersRCV002209029 RCV004982889

NM_003482.4(KMT2D):c.12862C>T (p.Arg4288Trp)

SNV
Germline

Chr12:49031843

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder
Kabuki syndrome 1

Criteria Provided
Conflicting Classifications

rs_542331667

3 SubmittersRCV002115772 RCV004531405 RCV003447618

NM_001291415.2(KDM6A):c.2502C>T (p.Ala834=)

SNV
Germline

ChrX:45070001

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome 2

Criteria Provided
Conflicting Classifications

rs_965420348

2 SubmittersRCV002290846 RCV002096930

NM_001291415.2(KDM6A):c.1671G>C (p.Met557Ile)

SNV
Germline

ChrX:45062736

Conflicting classifications of pathogenicity

Kabuki syndrome 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_368984079

3 SubmittersRCV002216044 RCV002243513 RCV003006995

NM_001291415.2(KDM6A):c.1991G>A (p.Arg664Gln)

SNV
Germline

ChrX:45063729

Conflicting classifications of pathogenicity

Kabuki syndrome 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_973676174

2 SubmittersRCV002127800 RCV004631968

NM_003482.4(KMT2D):c.2141C>T (p.Ser714Leu)

SNV
Germline

Chr12:49051542

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_747636808

2 SubmittersRCV002148646 RCV004531497

NM_003482.4(KMT2D):c.5528C>A (p.Thr1843Lys)

SNV
Germline

Chr12:49043368

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_376180339

2 SubmittersRCV002074509 RCV003134389

NM_003482.4(KMT2D):c.3890G>A (p.Arg1297His)

SNV
Germline

Chr12:49049698

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_781156556

2 SubmittersRCV002127161 RCV004531396

NM_003482.4(KMT2D):c.5966C>T (p.Thr1989Met)

SNV
Germline

Chr12:49042232

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_754420100

3 SubmittersRCV002211223 RCV003151391 RCV003753214

NM_003482.4(KMT2D):c.14923C>T (p.Arg4975Cys)

SNV
Germline

Chr12:49027043

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_781012274

2 SubmittersRCV002245278 RCV003120848

NM_003482.4(KMT2D):c.10018C>T (p.Gln3340Ter)

SNV
Germline

Chr12:49037338

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_2120477465

1 SubmittersRCV002245294

NM_003482.4(KMT2D):c.14989C>T (p.Gln4997Ter)

SNV
Germline

Chr12:49026977

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_2120365558

1 SubmittersRCV002250083

NM_003482.4(KMT2D):c.4427C>G (p.Ser1476Cys)

SNV
Germline

Chr12:49046416

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

rs_1227169455

2 SubmittersRCV002250084 RCV004555897

NM_003482.4(KMT2D):c.14382+1G>A

SNV
Germline

Chr12:49028827

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_1555186428

1 SubmittersRCV002250993

NM_003482.4(KMT2D):c.177-2A>G

SNV
Germline

Chr12:49054753

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_2120713788

1 SubmittersRCV002251119

NM_003482.4(KMT2D):c.7724C>T (p.Pro2575Leu)

SNV
Germline

Chr12:49040046

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_533854462

2 SubmittersRCV002255006 RCV003588788

NM_001291415.2(KDM6A):c.3682G>A (p.Val1228Ile)

SNV
Unknown

ChrX:45085957

Likely pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

rs_2148169594

1 SubmittersRCV002256958

NM_003482.4(KMT2D):c.13951C>T (p.His4651Tyr)

SNV
Germline

Chr12:49030328

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

rs_767232021

3 SubmittersRCV002266888 RCV003588793 RCV004534021

NM_003482.4(KMT2D):c.16273G>A (p.Glu5425Lys)

SNV
Germline

Chr12:49022655

Pathogenic

Condition: not provided
Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_2137706560

3 SubmittersRCV002267217 RCV003588794 RCV003101522

NM_003482.4(KMT2D):c.10255G>T (p.Asp3419Tyr)

SNV
Germline

Chr12:49034912

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2120462024

2 SubmittersRCV002273161 RCV003319512

NM_003482.4(KMT2D):c.10552C>T (p.Gln3518Ter)

SNV
Germline

Chr12:49034255

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_2120454881

1 SubmittersRCV002274302

NM_001291415.2(KDM6A):c.3677G>A (p.Trp1226Ter)

SNV
Germline

ChrX:45085952

Likely pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

rs_746435548

1 SubmittersRCV002274445

NM_003482.4(KMT2D):c.9955G>A (p.Gly3319Ser)

SNV
Germline

Chr12:49037401

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Inborn genetic diseases
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_1291730464

3 SubmittersRCV002275664 RCV003096226 RCV003096225

NM_003482.4(KMT2D):c.3896G>A (p.Arg1299His)

SNV
Germline

Chr12:49049692

Conflicting classifications of pathogenicity

Kabuki syndrome 1
KMT2D-related disorder
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_1266718915

3 SubmittersRCV002275671 RCV004529116 RCV003753223

NM_003482.4(KMT2D):c.16529A>G (p.Tyr5510Cys)

SNV
Germline

Chr12:49021865

Conflicting classifications of pathogenicity

Neurodevelopmental disorder
Kabuki syndrome

Criteria Provided
Conflicting Classifications

rs_1383821738

2 SubmittersRCV002277680 RCV003753224

NM_003482.4(KMT2D):c.15332A>G (p.Asn5111Ser)

SNV
Germline

Chr12:49026634

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
Kabuki syndrome 1

Criteria Provided
Conflicting Classifications

rs_943690439

3 SubmittersRCV002279000 RCV003774916 RCV003992623

NM_003482.4(KMT2D):c.5939C>T (p.Thr1980Met)

SNV
Germline

Chr12:49042259

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002280434 RCV003753225

NM_003482.4(KMT2D):c.4419-2A>C

SNV
Germline

Chr12:49046426

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV002283856

NM_003482.4(KMT2D):c.11890C>T (p.Gln3964Ter)

SNV
Germline

Chr12:49032815

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV002285246

NM_003482.4(KMT2D):c.177-1G>A

SNV
Germline

Chr12:49054752

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV002288345

NM_001291415.2(KDM6A):c.409G>T (p.Gly137Cys)

SNV
Germline

ChrX:45010985

Likely pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV002290181

NM_001291415.2(KDM6A):c.565-401A>G

SNV
Germline

ChrX:45034530

Likely pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV002291411

NM_003482.4(KMT2D):c.8032G>C (p.Glu2678Gln)

SNV
Germline

Chr12:49039738

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002302428 RCV003098014 RCV003395452

NM_003482.4(KMT2D):c.1888C>T (p.Pro630Ser)

SNV
Germline

Chr12:49051795

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002461899 RCV003111565

NM_003482.4(KMT2D):c.9490C>T (p.Arg3164Trp)

SNV
Germline

Chr12:49037866

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002466899 RCV003108119 RCV004529145

NM_003482.4(KMT2D):c.510G>A (p.Gln170=)

SNV
Germline

Chr12:49054307

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV002468734

NM_003482.4(KMT2D):c.7814A>G (p.Tyr2605Cys)

SNV
Germline

Chr12:49039956

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002471374 RCV002571452 RCV004641962

NM_003482.4(KMT2D):c.6002G>A (p.Arg2001Gln)

SNV
Germline

Chr12:49042196

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV002471448

NM_001291415.2(KDM6A):c.1739C>T (p.Thr580Ile)

SNV
Germline

ChrX:45063477

Conflicting classifications of pathogenicity

Kabuki syndrome 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002470232

NM_003482.4(KMT2D):c.14059C>T (p.Gln4687Ter)

SNV
Germline

Chr12:49029417

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV002470570

NM_003482.4(KMT2D):c.437C>A (p.Ser146Ter)

SNV
Germline

Chr12:49054380

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV002470573

NM_003482.4(KMT2D):c.13090C>T (p.Gln4364Ter)

SNV
Germline

Chr12:49031615

Pathogenic

Condition: not provided
Kabuki syndrome 1

Criteria Provided
Single Submitter

2 SubmittersRCV002505981 RCV003149036

NM_003482.4(KMT2D):c.6521A>G (p.Gln2174Arg)

SNV
Germline

Chr12:49041249

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder
not specified

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003063021 RCV004536557 RCV004801275

NM_003482.4(KMT2D):c.3511G>T (p.Glu1171Ter)

SNV
Germline

Chr12:49050077

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003062514

NM_003482.4(KMT2D):c.6362C>T (p.Ala2121Val)

SNV
Germline

Chr12:49041408

Conflicting classifications of pathogenicity

Kabuki syndrome
Kabuki syndrome 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003068541 RCV004812467

NM_003482.4(KMT2D):c.7028C>A (p.Pro2343Gln)

SNV
Germline

Chr12:49040742

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003089685 RCV003130831

NM_003482.4(KMT2D):c.3370C>T (p.Pro1124Ser)

SNV
Germline

Chr12:49050218

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003091095 RCV003491231

NM_003482.4(KMT2D):c.9674G>T (p.Gly3225Val)

SNV
Germline

Chr12:49037682

Conflicting classifications of pathogenicity

Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002584706 RCV004985205

NM_003482.4(KMT2D):c.8933C>T (p.Pro2978Leu)

SNV
Germline

Chr12:49038423

Conflicting classifications of pathogenicity

Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003084520 RCV003090133

NM_003482.4(KMT2D):c.14896C>T (p.Arg4966Trp)

SNV
Germline

Chr12:49027070

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003093197 RCV004536612

NM_003482.4(KMT2D):c.4639G>A (p.Ala1547Thr)

SNV
Germline

Chr12:49046119

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002602864 RCV004725542

NM_003482.4(KMT2D):c.14491A>C (p.Lys4831Gln)

SNV
Germline

Chr12:49028033

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002595867 RCV004538808

NM_003482.4(KMT2D):c.14503G>A (p.Ala4835Thr)

SNV
Germline

Chr12:49028021

Conflicting classifications of pathogenicity

Kabuki syndrome
Inborn genetic diseases
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002595709 RCV003269480 RCV004529211

NM_003482.4(KMT2D):c.8906C>T (p.Ser2969Leu)

SNV
Germline

Chr12:49038450

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002633445 RCV003140131 RCV004538841

NM_003482.4(KMT2D):c.2962G>C (p.Ala988Pro)

SNV
Germline

Chr12:49050626

Conflicting classifications of pathogenicity

Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002625078 RCV003274308

NM_003482.4(KMT2D):c.6209C>T (p.Ala2070Val)

SNV
Germline

Chr12:49041680

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002612564 RCV003222460

NM_003482.4(KMT2D):c.14006C>G (p.Ser4669Ter)

SNV
Germline

Chr12:49029470

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV002510548

NM_001291415.2(KDM6A):c.4243C>T (p.Arg1415Ter)

SNV
Unknown

ChrX:45110160

Likely pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV002510553

NM_003482.4(KMT2D):c.10813C>T (p.Gln3605Ter)

SNV
Germline

Chr12:49033892

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002617140

NM_003482.4(KMT2D):c.193C>T (p.Arg65Cys)

SNV
Germline

Chr12:49054735

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002613342 RCV004529159

NM_003482.4(KMT2D):c.5182G>A (p.Asp1728Asn)

SNV
Germline

Chr12:49044206

Conflicting classifications of pathogenicity

Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002609101 RCV002634657

NM_003482.4(KMT2D):c.12745C>T (p.Gln4249Ter)

SNV
Germline

Chr12:49031960

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002662918

NM_003482.4(KMT2D):c.2962G>A (p.Ala988Thr)

SNV
Germline

Chr12:49050626

Conflicting classifications of pathogenicity

Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002659585 RCV004983080

NM_003482.4(KMT2D):c.6698C>T (p.Thr2233Ile)

SNV
Germline

Chr12:49041072

Conflicting classifications of pathogenicity

Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002650670 RCV004983071

NM_003482.4(KMT2D):c.2777C>T (p.Ser926Leu)

SNV
Germline

Chr12:49050906

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002643520 RCV004534162

NM_003482.4(KMT2D):c.11594A>G (p.Gln3865Arg)

SNV
Germline

Chr12:49033111

Conflicting classifications of pathogenicity

Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002700447 RCV004642007

NM_003482.4(KMT2D):c.11137T>G (p.Ser3713Ala)

SNV
Germline

Chr12:49033568

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002735786 RCV004529166

NM_003482.4(KMT2D):c.10847T>C (p.Val3616Ala)

SNV
Germline

Chr12:49033858

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003321956 RCV002755329

NM_003482.4(KMT2D):c.12793G>A (p.Gly4265Ser)

SNV
Germline

Chr12:49031912

Conflicting classifications of pathogenicity

Kabuki syndrome
Inborn genetic diseases
Kabuki syndrome 1

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002781016 RCV002805334 RCV003111592

NM_003482.4(KMT2D):c.9415C>T (p.Pro3139Ser)

SNV
Germline

Chr12:49037941

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002770298 RCV003134493

NM_003482.4(KMT2D):c.13441G>T (p.Glu4481Ter)

SNV
Germline

Chr12:49031264

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002815774

NM_003482.4(KMT2D):c.10825C>T (p.Gln3609Ter)

SNV
Germline

Chr12:49033880

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002861299

NM_003482.4(KMT2D):c.4267C>A (p.Arg1423Ser)

SNV
Germline

Chr12:49046760

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002858281

NM_003482.4(KMT2D):c.16154C>G (p.Ser5385Ter)

SNV
Germline

Chr12:49022774

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002852473

NM_003482.4(KMT2D):c.16295G>T (p.Arg5432Leu)

SNV
Germline

Chr12:49022633

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002880427

NM_003482.4(KMT2D):c.16515A>T (p.Gly5505=)

SNV
Germline

Chr12:49022049

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002868065

NM_003482.4(KMT2D):c.3241C>A (p.Pro1081Thr)

SNV
Germline

Chr12:49050347

Conflicting classifications of pathogenicity

Kabuki syndrome
Inborn genetic diseases
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002885643 RCV002885644 RCV004529178

NM_003482.4(KMT2D):c.10232-1G>A

SNV
Germline

Chr12:49034936

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002912620

NM_003482.4(KMT2D):c.7603C>T (p.Arg2535Cys)

SNV
Germline

Chr12:49040167

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002913223 RCV004536441

NM_001291415.2(KDM6A):c.1597C>T (p.Arg533Cys)

SNV
Germline

ChrX:45062662

Conflicting classifications of pathogenicity

Kabuki syndrome 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002947127 RCV004983197

NM_003482.4(KMT2D):c.10843G>A (p.Ala3615Thr)

SNV
Germline

Chr12:49033862

Conflicting classifications of pathogenicity

Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002943243 RCV003170684

NM_003482.4(KMT2D):c.5756C>T (p.Thr1919Met)

SNV
Germline

Chr12:49042767

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002929189 RCV004536480

NM_003482.4(KMT2D):c.10123C>T (p.Pro3375Ser)

SNV
Germline

Chr12:49037233

Conflicting classifications of pathogenicity

Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002971213 RCV002971212

NM_003482.4(KMT2D):c.10214G>C (p.Ser3405Thr)

SNV
Germline

Chr12:49037142

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002982666 RCV004536511

NM_003482.4(KMT2D):c.8396A>G (p.Tyr2799Cys)

SNV
Germline

Chr12:49038960

Conflicting classifications of pathogenicity

Kabuki syndrome
VISS syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002983101 RCV004813211

NM_003482.4(KMT2D):c.14701C>G (p.Leu4901Val)

SNV
Germline

Chr12:49027265

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003005098 RCV003134585

NM_003482.4(KMT2D):c.3511G>A (p.Glu1171Lys)

SNV
Germline

Chr12:49050077

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003009098 RCV003883858

NM_003482.4(KMT2D):c.1792C>T (p.Arg598Cys)

SNV
Germline

Chr12:49051891

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003011413 RCV003134584 RCV004540499

NM_003482.4(KMT2D):c.13764G>C (p.Gln4588His)

SNV
Germline

Chr12:49030676

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002976617 RCV003389913

NM_001291415.2(KDM6A):c.444G>A (p.Trp148Ter)

SNV
Germline

ChrX:45020610

Pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV003016562

NM_001291415.2(KDM6A):c.1683+1G>T

SNV
Germline

ChrX:45062749

Likely pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV003021499

NM_003482.4(KMT2D):c.16522-2A>G

SNV
Germline

Chr12:49021874

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003018033

NM_001291415.2(KDM6A):c.1537C>T (p.Gln513Ter)

SNV
Germline

ChrX:45061375

Pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV003013604

NM_003482.4(KMT2D):c.1112+1G>C

SNV
Germline

Chr12:49052914

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003046512

NM_001291415.2(KDM6A):c.349C>T (p.Gln117Ter)

SNV
Germline

ChrX:44974680

Pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV003064000

NM_003482.4(KMT2D):c.16339-2A>C

SNV
Germline

Chr12:49022355

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003056219

NM_003482.4(KMT2D):c.3365C>A (p.Thr1122Lys)

SNV
Germline

Chr12:49050223

Conflicting classifications of pathogenicity

Inborn genetic diseases
Kabuki syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002686841 RCV003777596

NM_003482.4(KMT2D):c.794G>A (p.Arg265His)

SNV
Germline

Chr12:49053521

Conflicting classifications of pathogenicity

Inborn genetic diseases
Kabuki syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002691872 RCV003588849

NM_003482.4(KMT2D):c.5504G>A (p.Arg1835His)

SNV
Germline

Chr12:49043392

Conflicting classifications of pathogenicity

Inborn genetic diseases
Kabuki syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002722752 RCV003588851

NM_003482.4(KMT2D):c.8843C>T (p.Pro2948Leu)

SNV
Germline

Chr12:49038513

Conflicting classifications of pathogenicity

Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003753250 RCV002787092

NM_003482.4(KMT2D):c.11704C>G (p.Gln3902Glu)

SNV
Germline

Chr12:49033001

Conflicting classifications of pathogenicity

Inborn genetic diseases
Kabuki syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002944986 RCV003777989

NM_003482.4(KMT2D):c.11746C>T (p.Gln3916Ter)

SNV
Germline

Chr12:49032959

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003142489

NM_003482.4(KMT2D):c.14953G>A (p.Val4985Met)

SNV
Germline

Chr12:49027013

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003131399 RCV003588865

NM_003482.4(KMT2D):c.6466C>G (p.Pro2156Ala)

SNV
Germline

Chr12:49041304

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
KMT2D-related disorder
Kabuki syndrome

Criteria Provided
Conflicting Classifications

5 SubmittersRCV003133944 RCV004246012 RCV004529243 RCV003588866

NM_003482.4(KMT2D):c.15731A>G (p.Lys5244Arg)

SNV
Germline

Chr12:49026235

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003131403 RCV003588867

NM_003482.4(KMT2D):c.13324G>A (p.Ala4442Thr)

SNV
Germline

Chr12:49031381

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003148101 RCV003778887

NM_003482.4(KMT2D):c.8626C>T (p.Gln2876Ter)

SNV
Unknown

Chr12:49038730

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003148550

NM_003482.4(KMT2D):c.14251+1G>C

SNV
Germline

Chr12:49029060

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

1 SubmittersRCV003149101

NM_003482.4(KMT2D):c.5783-1G>A

SNV
Germline

Chr12:49042646

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

2 SubmittersRCV003149102

NM_003482.4(KMT2D):c.6183+3G>T

SNV
Germline

Chr12:49041914

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

1 SubmittersRCV003149103

NM_001291415.2(KDM6A):c.357C>G (p.Tyr119Ter)

SNV
Germline

ChrX:44974688

Pathogenic

Kabuki syndrome 2

No Assertion Criteria Provided

1 SubmittersRCV003149106

NM_003482.4(KMT2D):c.349C>T (p.Gln117Ter)

SNV
Germline

Chr12:49054579

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

1 SubmittersRCV003149107

NM_003482.4(KMT2D):c.15194G>C (p.Trp5065Ser)

SNV
Germline

Chr12:49026772

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

1 SubmittersRCV003149110

NM_003482.4(KMT2D):c.8453G>A (p.Trp2818Ter)

SNV
Germline

Chr12:49038903

Likely pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

1 SubmittersRCV003155540

NM_003482.4(KMT2D):c.10198C>T (p.Gln3400Ter)

SNV
Germline

Chr12:49037158

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003225643

NM_003482.4(KMT2D):c.10615C>T (p.Arg3539Trp)

SNV
Germline

Chr12:49034192

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003225689

NM_003482.4(KMT2D):c.11119C>T (p.Arg3707Ter)

SNV
Germline

Chr12:49033586

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003225705

NM_003482.4(KMT2D):c.8077C>T (p.Gln2693Ter)

SNV
Unknown

Chr12:49039587

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

1 SubmittersRCV003228234

NM_001291415.2(KDM6A):c.384+13T>A

SNV
Germline

ChrX:44974728

Conflicting classifications of pathogenicity

Kabuki syndrome 2
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003643052 RCV003230809

NM_001291415.2(KDM6A):c.816T>G (p.Tyr272Ter)

SNV
Somatic

ChrX:45053896

Pathogenic

Kabuki syndrome 2

No Assertion Criteria Provided

1 SubmittersRCV003233019

NM_003482.4(KMT2D):c.50-2A>G

SNV
Germline

Chr12:49055028

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003233375

NM_003482.4(KMT2D):c.3316C>G (p.Pro1106Ala)

SNV
Germline

Chr12:49050272

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003237117 RCV003753265

NM_003482.4(KMT2D):c.1438C>G (p.Pro480Ala)

SNV
Germline

Chr12:49052245

Conflicting classifications of pathogenicity

Inborn genetic diseases
Kabuki syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003309459 RCV003777089

NM_003482.4(KMT2D):c.10021C>T (p.Gln3341Ter)

SNV
Unknown

Chr12:49037335

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003314364

NM_003482.4(KMT2D):c.955-1G>A

SNV
Unknown

Chr12:49053073

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003315107

NM_003482.4(KMT2D):c.15460C>T (p.Arg5154Trp)

SNV
Germline

Chr12:49026506

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003327355

NM_003482.4(KMT2D):c.11138C>G (p.Ser3713Ter)

SNV
Unknown

Chr12:49033567

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003333381

NM_003482.4(KMT2D):c.3220G>T (p.Glu1074Ter)

SNV
Germline

Chr12:49050368

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003338218

NM_003482.4(KMT2D):c.9352G>A (p.Val3118Met)

SNV
Germline

Chr12:49038004

Conflicting classifications of pathogenicity

Inborn genetic diseases
Kabuki syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003354139 RCV003753272

NM_003482.4(KMT2D):c.4419-1G>C

SNV
Unknown

Chr12:49046425

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003397196

NM_003482.4(KMT2D):c.4802G>A (p.Arg1601His)

SNV
Germline

Chr12:49044905

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003753277 RCV004529703

NM_003482.4(KMT2D):c.5760A>T (p.Pro1920=)

SNV
Germline

Chr12:49042763

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003753286 RCV004534286

NM_003482.4(KMT2D):c.1196G>C (p.Gly399Ala)

SNV
Germline

Chr12:49052626

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003588902 RCV004529683

NM_003482.4(KMT2D):c.15540G>A (p.Val5180=)

SNV
Germline

Chr12:49026426

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003753285 RCV004534235

NM_003482.4(KMT2D):c.5362G>A (p.Ala1788Thr)

SNV
Germline

Chr12:49043740

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003753279 RCV004529759

NM_003482.4(KMT2D):c.1091A>G (p.Gln364Arg)

SNV
Germline

Chr12:49052936

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003778202 RCV004529762

NM_003482.4(KMT2D):c.15670C>T (p.Arg5224Cys)

SNV
Germline

Chr12:49026296

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003398169 RCV003753288

NM_003482.4(KMT2D):c.12205C>A (p.Leu4069Ile)

SNV
Germline

Chr12:49032500

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003391778 RCV003778384

NM_003482.4(KMT2D):c.9566G>T (p.Gly3189Val)

SNV
Germline

Chr12:49037790

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003390227 RCV003588912

NM_003482.4(KMT2D):c.8564C>T (p.Ala2855Val)

SNV
Germline

Chr12:49038792

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003391785 RCV003588913

NM_003482.4(KMT2D):c.12549G>T (p.Gln4183His)

SNV
Germline

Chr12:49032156

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003443829 RCV003778469

NM_003482.4(KMT2D):c.13507C>T (p.Gln4503Ter)

SNV
Germline

Chr12:49031198

Pathogenic/Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003989848

NM_003482.4(KMT2D):c.9010G>C (p.Glu3004Gln)

SNV
Germline

Chr12:49038346

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004595691

NM_003482.4(KMT2D):c.13622A>G (p.Lys4541Arg)

SNV
Germline

Chr12:49030942

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004595696

NM_003482.4(KMT2D):c.16238C>T (p.Ala5413Val)

SNV
Unknown

Chr12:49022690

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004595699

NM_003482.4(KMT2D):c.6180C>G (p.Tyr2060Ter)

SNV
Germline

Chr12:49041920

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004595707

NM_001291415.2(KDM6A):c.334+1G>A

SNV
Germline

ChrX:44961393

Likely pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV003528858

NM_003482.4(KMT2D):c.510+2T>C

SNV
Germline

Chr12:49054305

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003589862

NM_003482.4(KMT2D):c.8498T>C (p.Met2833Thr)

SNV
Germline

Chr12:49038858

Conflicting classifications of pathogenicity

Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003590608 RCV004369066

NM_003482.4(KMT2D):c.8310C>A (p.Asp2770Glu)

SNV
Germline

Chr12:49039278

Conflicting classifications of pathogenicity

Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003588289 RCV004985414

NM_001291415.2(KDM6A):c.2079+1G>A

SNV
Germline

ChrX:45063818

Likely pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV003527644

NM_003482.4(KMT2D):c.11266C>T (p.Gln3756Ter)

SNV
Germline

Chr12:49033439

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003589374

NM_001291415.2(KDM6A):c.1577T>G (p.Leu526Ter)

SNV
Germline

ChrX:45061415

Pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV003527865

NM_003482.4(KMT2D):c.16052+2T>G

SNV
Germline

Chr12:49024576

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003754166

NM_003482.4(KMT2D):c.11866C>T (p.Gln3956Ter)

SNV
Germline

Chr12:49032839

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003754125

NM_001291415.2(KDM6A):c.3301-3T>G

SNV
Germline

ChrX:45082573

Pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV003643864

NM_003482.4(KMT2D):c.15185G>C (p.Cys5062Ser)

SNV
Germline

Chr12:49026781

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003754576

NM_003482.4(KMT2D):c.14302A>T (p.Lys4768Ter)

SNV
Germline

Chr12:49028908

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003754718

NM_003482.4(KMT2D):c.2798-1G>A

SNV
Germline

Chr12:49050791

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003752640

NM_003482.4(KMT2D):c.7964C>G (p.Ser2655Cys)

SNV
Germline

Chr12:49039806

Conflicting classifications of pathogenicity

Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003752866 RCV004373931

NM_003482.4(KMT2D):c.1295C>T (p.Ala432Val)

SNV
Germline

Chr12:49052388

Conflicting classifications of pathogenicity

KMT2D-related disorder
Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004758945 RCV003752783 RCV004763753

NM_003482.4(KMT2D):c.12463C>A (p.Pro4155Thr)

SNV
Germline

Chr12:49032242

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003739559 RCV003753045

NM_003482.4(KMT2D):c.8993A>T (p.Asp2998Val)

SNV
Germline

Chr12:49038363

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003753602 RCV004780635

NM_003482.4(KMT2D):c.4402G>T (p.Gly1468Cys)

SNV
Germline

Chr12:49046625

Conflicting classifications of pathogenicity

Kabuki syndrome
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003753780 RCV004690475

NM_003482.4(KMT2D):c.15922-1G>A

SNV
Germline

Chr12:49024709

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003814573

NM_003482.4(KMT2D):c.4963+1G>T

SNV
Germline

Chr12:49044743

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003860744

NM_003482.4(KMT2D):c.10508-3C>T

SNV
Germline

Chr12:49034302

Conflicting classifications of pathogenicity

Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003864991 RCV004634400

NM_003482.4(KMT2D):c.839G>A (p.Arg280Lys)

SNV
Germline

Chr12:49053476

Likely pathogenic

Kabuki syndrome 1
KMT2D-related disorder

Criteria Provided
Single Submitter

2 SubmittersRCV003890768 RCV004731582

NM_003482.4(KMT2D):c.11806C>T (p.Gln3936Ter)

SNV
Unknown

Chr12:49032899

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003985165

NM_003482.4(KMT2D):c.11674C>T (p.Gln3892Ter)

SNV
Germline

Chr12:49033031

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003990347

NM_003482.4(KMT2D):c.9934C>T (p.Gln3312Ter)

SNV
Germline

Chr12:49037422

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004006252

NM_003482.4(KMT2D):c.5107C>T (p.Gln1703Ter)

SNV
Germline

Chr12:49044281

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004515760

NM_003482.4(KMT2D):c.4742-1G>A

SNV
Germline

Chr12:49044966

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004594988

NM_003482.4(KMT2D):c.15784+1G>C

SNV
Germline

Chr12:49026181

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004596066

NM_003482.4(KMT2D):c.13670A>C (p.Gln4557Pro)

SNV
Germline

Chr12:49030894

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004598551

NM_003482.4(KMT2D):c.14961G>A (p.Trp4987Ter)

SNV
Germline

Chr12:49027005

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004789803

NM_003482.4(KMT2D):c.7417C>T (p.Gln2473Ter)

SNV
Germline

Chr12:49040353

Pathogenic

Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004795614