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 Condition: not provided Kabuki syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA254197	rs_267607237	8 SubmittersRCV001043636 RCV000723481 RCV000007972
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 Kabuki syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA254200	rs_267607239	6 SubmittersRCV000007974 RCV001265824 RCV003588558 RCV003147277
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 Kabuki syndrome 1 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	Criteria Provided Conflicting Classifications	CA222001	rs_398123710	4 SubmittersRCV000080118 RCV000723524 RCV003588574 RCV005003457
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	9 SubmittersRCV000146172 RCV000688592 RCV002243708
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys)	SNV Germline	Chr12:49026824	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome 1 Kabuki syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA222027	rs_398123724	9 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 KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA222044	rs_398123734	3 SubmittersRCV000080154 RCV000659832 RCV005250015
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 KMT2D-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA160507	rs_143711798	12 SubmittersRCV000121380 RCV000365620 RCV000723541 RCV002055153 RCV003224138 RCV004537346 RCV004019552
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 KMT2D-related disorder Kabuki syndrome	Criteria Provided Conflicting Classifications	CA222086	rs_374724784	4 SubmittersRCV000080188 RCV004542768 RCV002055155
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 KMT2D-related disorder not specified	Criteria Provided Conflicting Classifications	CA222092	rs_370414767	7 SubmittersRCV000080197 RCV001494744 RCV004542769 RCV003150943
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 Condition: not provided Kabuki syndrome 1 KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA160509	rs_201623566	10 SubmittersRCV000121381 RCV001521913 RCV001594848 RCV000988841 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 Kabuki syndrome 1 KMT2D-related disorder Inborn genetic diseases Kabuki syndrome 1 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	Criteria Provided Conflicting Classifications	CA160539	rs_587778463	6 SubmittersRCV000121396 RCV002055349 RCV001781462 RCV004530010 RCV004639140 RCV005008027
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 Kabuki syndrome Condition: not provided KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA160559	rs_587778466	5 SubmittersRCV000121406 RCV002515875 RCV000440700 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 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Kabuki syndrome 1	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 Inborn genetic diseases Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA160581	rs_200601717	6 SubmittersRCV000121417 RCV000224122 RCV002515876 RCV001087749 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	5 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 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Kabuki syndrome 1	Criteria Provided Conflicting Classifications	CA160615	rs_587778480	4 SubmittersRCV000121434 RCV001854646 RCV004530012 RCV005008030
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	Neoplasm Kabuki syndrome 1	Criteria Provided Single Submitter	CA271604	rs_587783697	2 SubmittersRCV004668806 RCV000146179
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/somatic	Chr12:49031255	Pathogenic	Kabuki syndrome 1 Inborn genetic diseases Kabuki syndrome Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA271590	rs_587783690	5 SubmittersRCV000146168 RCV000622817 RCV003753091 RCV005229974
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	Condition: not provided Kabuki syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA271570	rs_587783682	4 SubmittersRCV004719714 RCV000146153
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 1 not specified Kabuki syndrome	Criteria Provided Conflicting Classifications	CA245010	rs_371444130	4 SubmittersRCV000146151 RCV000177997 RCV002055893
NM_003482.4(KMT2D):c.10444C>T (p.Arg3482Trp)	SNV Germline	Chr12:49034473	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome KMT2D-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA271566	rs_201127814	4 SubmittersRCV000146149 RCV002055892 RCV004544339 RCV002225451
NM_003482.4(KMT2D):c.10312G>A (p.Val3438Met)	SNV Germline	Chr12:49034855	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Kabuki syndrome 1	Criteria Provided Conflicting Classifications	CA271564	rs_35087111	3 SubmittersRCV000146148 RCV001857511 RCV005008051
NM_003482.4(KMT2D):c.8743C>T (p.Arg2915Ter)	SNV Germline	Chr12:49038613	Pathogenic/Likely pathogenic	Kabuki syndrome 1 Condition: not provided Kabuki syndrome	Criteria Provided Multiple Submitters No Conflicts	CA271664	rs_587783729	6 SubmittersRCV000146240 RCV004821984 RCV001857516
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	5 SubmittersRCV000146236 RCV004589639
NM_003482.4(KMT2D):c.7198C>G (p.Pro2400Ala)	SNV Germline	Chr12:49040572	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome not specified Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Kabuki syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA271657	rs_35111108	6 SubmittersRCV000146231 RCV001501756 RCV000516606 RCV005008054 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 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Kabuki syndrome 1	Criteria Provided Conflicting Classifications	CA271653	rs_587783726	4 SubmittersRCV000146227 RCV001338541 RCV004691765 RCV005008053
NM_003482.4(KMT2D):c.6807C>T (p.Ser2269=)	SNV Germline	Chr12:49040963	Conflicting classifications of pathogenicity	Kabuki syndrome 1 not specified Kabuki syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA180144	rs_73302197	6 SubmittersRCV000146226 RCV000153415 RCV000343763 RCV001711587
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 Kabuki syndrome 1 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	Criteria Provided Conflicting Classifications	CA271650	rs_587783724	5 SubmittersRCV000146223 RCV001857514 RCV004758649 RCV005008052
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 Condition: not provided Kabuki syndrome Kabuki syndrome 1 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	Criteria Provided Conflicting Classifications	CA172422	rs_200192746	6 SubmittersRCV000146196 RCV000659703 RCV001709495 RCV001404137 RCV003224166
NM_003482.4(KMT2D):c.2232A>C (p.Ser744=)	SNV Germline	Chr12:49051451	Conflicting classifications of pathogenicity	not specified Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA172419	rs_200155807	5 SubmittersRCV000146193 RCV000725951 RCV002055897 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	4 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.12261C>G (p.Ser4087Arg)	SNV Germline	Chr12:49032444	Conflicting classifications of pathogenicity	Condition: not provided Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications	CA234170	rs_727503982	3 SubmittersRCV000153411 RCV005008059 RCV005089743
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 1 Kabuki syndrome	Criteria Provided Conflicting Classifications	CA239236	rs_376911077	4 SubmittersRCV000173778 RCV002492730 RCV002516599
NM_003482.4(KMT2D):c.3889C>T (p.Arg1297Cys)	SNV Germline	Chr12:49049699	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome 1 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA239552	rs_746084513	4 SubmittersRCV000174077 RCV003224188 RCV001316081 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 Inborn genetic diseases Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Kabuki syndrome 1 KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA243748	rs_373858319	7 SubmittersRCV000177539 RCV001078907 RCV001818429 RCV005361071 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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA243759	rs_201114196	6 SubmittersRCV000177546 RCV000358195 RCV000659750 RCV004539652 RCV005589782
NM_003482.4(KMT2D):c.7046C>T (p.Pro2349Leu)	SNV Germline	Chr12:49040724	Conflicting classifications of pathogenicity	not specified Kabuki syndrome Kabuki syndrome 1 Condition: not provided KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA202516	rs_201581582	5 SubmittersRCV000177547 RCV001522735 RCV000659746 RCV001618333 RCV004537435
NM_003482.4(KMT2D):c.7903C>T (p.Arg2635Ter)	SNV Germline	Chr12:49039867	Pathogenic	Condition: not provided Kabuki syndrome Kabuki syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA275202	rs_794727549	4 SubmittersRCV000177549 RCV002517716 RCV005603606
NM_003482.4(KMT2D):c.8924G>A (p.Arg2975His)	SNV Germline	Chr12:49038432	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome not specified	Criteria Provided Conflicting Classifications	CA244676	rs_770885860	3 SubmittersRCV000177773 RCV002516752 RCV005417994
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 Kabuki syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA277305	rs_797045659	8 SubmittersRCV000194362 RCV000484393 RCV001382673 RCV001266906
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 KMT2D-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA208189	rs_746841307	4 SubmittersRCV000194184 RCV000697204 RCV004758667 RCV002517944
NM_003482.4(KMT2D):c.1490C>T (p.Pro497Leu)	SNV Germline	Chr12:49052193	Conflicting classifications of pathogenicity	not specified Kabuki syndrome KMT2D-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA206392	rs_371421459	6 SubmittersRCV000193123 RCV001444865 RCV004530128 RCV001576341
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 Immunodeficiency-centromeric instability-facial anomalies syndrome 2 Kabuki syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA3954392	rs_147441359	6 SubmittersRCV000238885 RCV000649294 RCV000578131 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	Condition: not provided Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10603301	rs_886041398	7 SubmittersRCV000283712 RCV000578361 RCV000557296
NM_003482.4(KMT2D):c.15143G>A (p.Arg5048His)	SNV Germline	Chr12:49026823	Pathogenic/Likely pathogenic	Kabuki syndrome 1 Condition: not provided KMT2D-related disorder Kabuki syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10603305	rs_886041404	10 SubmittersRCV000505249 RCV000376655 RCV004535247 RCV001220983
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	5 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 not specified	Criteria Provided Conflicting Classifications	CA6546967	rs_375980443	3 SubmittersRCV000263871 RCV002519094 RCV005434757
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 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Kabuki syndrome 1 not specified	Criteria Provided Conflicting Classifications	CA6546986	rs_200998047	7 SubmittersRCV000394346 RCV002059096 RCV004758681 RCV005396867 RCV005434758
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	Condition: not provided not specified Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA6547988	rs_201794205	5 SubmittersRCV003391043 RCV000396358 RCV001498841 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.4389C>T (p.Thr1463=)	SNV Germline	Chr12:49046638	Conflicting classifications of pathogenicity	not specified Kabuki syndrome Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Kabuki syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6547845	rs_372775501	4 SubmittersRCV000280514 RCV000872410 RCV005008252 RCV003391046
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	Condition: not provided Kabuki syndrome 1 Kabuki syndrome KMT2D-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10605587	rs_886043497	8 SubmittersRCV000725904 RCV000594764 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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6546838	rs_368967997	6 SubmittersRCV000265067 RCV001287103 RCV001403678 RCV005365227
NM_003482.4(KMT2D):c.13898C>T (p.Ser4633Leu)	SNV Germline	Chr12:49030381	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome 1 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6545863	rs_373146997	3 SubmittersRCV000353239 RCV005008258 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 KMT2D-related disorder Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6547274	rs_543241831	5 SubmittersRCV000366916 RCV004537611 RCV003114459
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	3 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 Kabuki syndrome Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Kabuki syndrome 1 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA6545511	rs_199593058	6 SubmittersRCV000768006 RCV001859847 RCV003224256 RCV002520810 RCV000733020
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	CA10632919	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	CA6547583	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	CA6547929	rs_750081274	2 SubmittersRCV002033307 RCV004536365
NM_003482.4(KMT2D):c.2737G>A (p.Glu913Lys)	SNV Germline	Chr12:49050946	Conflicting classifications of pathogenicity	KMT2D-related disorder Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6548199	rs_199724002	2 SubmittersRCV004537742 RCV001346479
NM_003482.4(KMT2D):c.14161C>T (p.Arg4721Cys)	SNV Germline	Chr12:49029151	Conflicting classifications of pathogenicity	Kabuki syndrome Condition: not provided Kabuki syndrome 1 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	Criteria Provided Conflicting Classifications	CA6545817	rs_777064703	3 SubmittersRCV000308871 RCV005411410 RCV005008286
NM_003482.4(KMT2D):c.11671G>A (p.Ala3891Thr)	SNV Germline	Chr12:49033034	Conflicting classifications of pathogenicity	Kabuki syndrome KMT2D-related disorder Condition: not provided not specified Left ventricular noncompaction	Criteria Provided Conflicting Classifications	CA10637636	rs_886049476	5 SubmittersRCV001894377 RCV004758831 RCV003883713 RCV004526152 RCV005626516
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 Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA6547878	rs_202217665	7 SubmittersRCV000277260 RCV000659716 RCV001706470 RCV004544537 RCV005589813 RCV005434801
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.15686G>A (p.Arg5229His)	SNV Germline	Chr12:49026280	Conflicting classifications of pathogenicity	Condition: not provided Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6545514	rs_201628357	3 SubmittersRCV003390222 RCV005012947 RCV005100017
NM_003482.4(KMT2D):c.13259G>A (p.Arg4420Gln)	SNV Germline	Chr12:49031446	Conflicting classifications of pathogenicity	Kabuki syndrome not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6546053	rs_375999143	3 SubmittersRCV001512878 RCV002248517 RCV004639208
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	CA6546078	rs_533214351	2 SubmittersRCV003588909 RCV004536662
NM_003482.4(KMT2D):c.10741-7A>G	SNV Germline	Chr12:49033971	Conflicting classifications of pathogenicity	Condition: not provided KMT2D-related disorder Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6546437	rs_550510739	4 SubmittersRCV000594856 RCV004537736 RCV001521254
NM_003482.4(KMT2D):c.5594C>T (p.Thr1865Ile)	SNV Germline	Chr12:49043126	Conflicting classifications of pathogenicity	Kabuki syndrome KMT2D-related disorder Kabuki syndrome 1 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	Criteria Provided Conflicting Classifications	CA10642425	rs_886049481	3 SubmittersRCV002659617 RCV004758913 RCV005011084
NM_006892.4(DNMT3B):c.1211A>G (p.Tyr404Cys)	SNV Germline	Chr20:32795493	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Condition: not provided Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency not specified	Criteria Provided Conflicting Classifications	CA9810462	rs_143462810	5 SubmittersRCV000578148 RCV000371781 RCV001618596 RCV000859904 RCV002265745
NM_003482.4(KMT2D):c.14075+1G>A	SNV Germline	Chr12:49029400	Pathogenic/Likely pathogenic	Kabuki syndrome 1 Kabuki syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA10654764	rs_1057516039	4 SubmittersRCV000408635 RCV002523836 RCV002524612
NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter)	SNV Germline/somatic	Chr12:49031861	Pathogenic	Condition: not provided Kabuki syndrome 1 Multiple myeloma KMT2D-related disorder Neoplasm Kabuki syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16042794	rs_1057517992	11 SubmittersRCV000413702 RCV000594502 RCV000984092 RCV004530513 RCV004668916 RCV003588627
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_003482.4(KMT2D):c.3118T>C (p.Ser1040Pro)	SNV Germline	Chr12:49050470	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA16603288	rs_970636133	2 SubmittersRCV000444580 RCV005090700
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	3 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 Kabuki syndrome 1 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	Criteria Provided Conflicting Classifications	CA6548774	rs_371342351	3 SubmittersRCV000578142 RCV003753126 RCV005010415
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.299G>C (p.Gly100Ala)	SNV Germline	Chr12:49054629	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6548747	rs_371058953	2 SubmittersRCV000512897 RCV005091165
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 Inborn genetic diseases KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA6546819	rs_201681639	4 SubmittersRCV000514112 RCV002060204 RCV005348143 RCV004535658
NM_003482.4(KMT2D):c.10445G>A (p.Arg3482Gln)	SNV Germline	Chr12:49034472	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6546500	rs_371223664	3 SubmittersRCV000514006 RCV002524982 RCV001857866
NM_003482.4(KMT2D):c.11278G>A (p.Gly3760Ser)	SNV Germline	Chr12:49033427	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6546331	rs_373071174	4 SubmittersRCV000514113 RCV001041581 RCV001821440 RCV002524987
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	Kabuki syndrome 1 Condition: not provided Kabuki syndrome Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Kabuki syndrome 1 not specified	Criteria Provided Conflicting Classifications	CA6545452	rs_745599611	5 SubmittersRCV001542416 RCV002473031 RCV002525046 RCV005010470 RCV000516233
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 Condition: not provided Kabuki syndrome 1 Inborn genetic diseases Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA384745891	rs_1258008817	7 SubmittersRCV000517847 RCV000730803 RCV000659759 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 KMT2D-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6546701	rs_200089754	5 SubmittersRCV000594517 RCV002062068 RCV004543366 RCV003160039
NM_003482.4(KMT2D):c.8090G>A (p.Arg2697His)	SNV Germline	Chr12:49039574	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6546914	rs_774178055	3 SubmittersRCV000594565 RCV001336570 RCV005056263
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 Intellectual disability Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA384747665	rs_1292048668	4 SubmittersRCV000592375 RCV001854069 RCV005625699 RCV005589866
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 Condition: not provided Kabuki syndrome Kabuki syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA384713842	rs_1555188379	4 SubmittersRCV000624430 RCV001788303 RCV001202175 RCV001261352
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 Condition: not provided Kabuki syndrome 1 Intellectual disability KMT2D-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA384751452	rs_1452715535	10 SubmittersRCV000622445 RCV000760463 RCV000659734 RCV001257646 RCV004533293
NM_003482.4(KMT2D):c.4485C>A (p.Tyr1495Ter)	SNV Germline	Chr12:49046358	Pathogenic	Inborn genetic diseases Kabuki syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA236614816	rs_574622908	2 SubmittersRCV000624308 RCV005410909
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	Pathogenic/Likely pathogenic	Kabuki syndrome Kabuki syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA384677297	rs_1555184777	2 SubmittersRCV000638431 RCV005223081
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 1 Kabuki syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA384677189	rs_1422752351	5 SubmittersRCV000659834 RCV000638437 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 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Kabuki syndrome 1	Criteria Provided Conflicting Classifications	CA6547247	rs_765654409	3 SubmittersRCV000638427 RCV000763856 RCV004533338 RCV005010620
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	CA384749125	rs_1196495584	2 SubmittersRCV000658462 RCV003588661
NM_003482.4(KMT2D):c.16338+1G>T	SNV Germline	Chr12:49022589	Pathogenic/Likely pathogenic	Kabuki syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA384677302	rs_1555184782	2 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	CA384686131	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	CA384686637	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	CA384686824	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 Kabuki syndrome 1 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	Criteria Provided Conflicting Classifications	CA6545553	rs_752976776	3 SubmittersRCV000659823 RCV002066964 RCV005010645
NM_003482.4(KMT2D):c.15286C>T (p.Gln5096Ter)	SNV Germline	Chr12:49026680	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA384688776	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	CA384691434	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	CA384694837	rs_1555186232	1 SubmittersRCV000659815
NM_003482.4(KMT2D):c.14189G>A (p.Trp4730Ter)	SNV Germline	Chr12:49029123	Pathogenic/Likely pathogenic	Condition: not provided Kabuki syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA384697218	rs_1555186527	3 SubmittersRCV001268133 RCV000659813
NM_003482.4(KMT2D):c.14000-3C>G	SNV Germline	Chr12:49029479	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA645594484	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	CA6545982	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	CA384704834	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	CA384706852	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	CA384709146	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	CA6546184	rs_532360713	2 SubmittersRCV000659800 RCV003753151
NM_003482.4(KMT2D):c.12469C>T (p.Gln4157Ter)	SNV Germline	Chr12:49032236	Pathogenic/Likely pathogenic	Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Multiple Submitters No Conflicts	CA384711398	rs_1555188080	4 SubmittersRCV000659798 RCV005091901
NM_003482.4(KMT2D):c.11848C>T (p.Gln3950Ter)	SNV Germline	Chr12:49032857	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA384714757	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	CA384716364	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	CA384717237	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	CA384724363	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 Inborn genetic diseases Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6546473	rs_777638253	4 SubmittersRCV000659781 RCV005357878 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	CA6546497	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	CA384729055	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	CA384729292	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	CA384732499	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 Kabuki syndrome 1 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	Criteria Provided Conflicting Classifications	CA384737939	rs_1555190514	3 SubmittersRCV000659774 RCV003753149 RCV005010644
NM_003482.4(KMT2D):c.8579G>A (p.Arg2860His)	SNV Germline	Chr12:49038777	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Condition: not provided Kabuki syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA6546818	rs_377747403	4 SubmittersRCV000659768 RCV002225706 RCV001481332 RCV004533447
NM_003482.4(KMT2D):c.8516C>G (p.Ser2839Ter)	SNV Germline	Chr12:49038840	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA384741995	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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA384742390	rs_1239905273	4 SubmittersRCV000659765 RCV003753148 RCV005589876
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	CA384742399	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	CA6546912	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	CA384746419	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	CA384747726	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	CA6547080	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	CA6547219	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	CA6547456	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	CA6547469	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	CA384631178	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	CA384641435	rs_1290729871	1 SubmittersRCV000659723
NM_003482.4(KMT2D):c.4724T>C (p.Met1575Thr)	SNV Germline	Chr12:49045937	Conflicting classifications of pathogenicity	Kabuki syndrome 1 KMT2D-related disorder Kabuki syndrome	Criteria Provided Conflicting Classifications	CA384643797	rs_1555194803	3 SubmittersRCV000659722 RCV004758719 RCV005091900
NM_003482.4(KMT2D):c.4131G>A (p.Gln1377=)	SNV Germline	Chr12:49048659	Likely pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA479514460	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	CA384650104	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	CA6547933	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	CA236618364	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	CA384661153	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	CA384665579	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	CA6548389	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	CA236622172	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	CA384680516	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	CA384687311	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	CA479715524	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	CA384691060	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	CA10392569	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	CA412808134	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	CA384681291	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	CA384665640	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	CA384728686	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	CA236647277	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 Kabuki syndrome 1 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	Criteria Provided Conflicting Classifications	CA236623898	rs_976882824	3 SubmittersRCV000697354 RCV001291752 RCV005010703
NM_003482.4(KMT2D):c.10570C>T (p.Gln3524Ter)	SNV Germline	Chr12:49034237	Pathogenic	Branchial cleft anomaly Kabuki syndrome	Criteria Provided Multiple Submitters No Conflicts	CA384728198	rs_1565780936	2 SubmittersRCV004798858 RCV000702805
NM_003482.4(KMT2D):c.4359C>G (p.His1453Gln)	SNV Germline	Chr12:49046668	Likely pathogenic	Kabuki syndrome	Criteria Provided Single Submitter	CA384646899	rs_767737749	1 SubmittersRCV000685040
NM_003482.4(KMT2D):c.11881C>T (p.Gln3961Ter)	SNV Germline	Chr12:49032824	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter	CA384714434	rs_1565776616	1 SubmittersRCV000705834
NM_003482.4(KMT2D):c.5263C>T (p.Gln1755Ter)	SNV Germline	Chr12:49043924	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter	CA384634873	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	CA384747277	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	CA412799777	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	CA412808076	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	CA6546070	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	CA6547269	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	CA236630268	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	CA6546318	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	CA6548458	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	CA6548217	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 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	Criteria Provided Conflicting Classifications	CA6546598	rs_372740284	4 SubmittersRCV000732648 RCV001855689 RCV005004395
NM_003482.4(KMT2D):c.690A>C (p.Ala230=)	SNV Germline	Chr12:49053625	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6548669	rs_752905665	2 SubmittersRCV000733049 RCV005056490
NM_003482.4(KMT2D):c.11180G>A (p.Arg3727His)	SNV Germline	Chr12:49033525	Conflicting classifications of pathogenicity	Kabuki syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA6546351	rs_777628634	2 SubmittersRCV001063842 RCV000733445
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	CA6547124	rs_376483324	3 SubmittersRCV000733975 RCV002067160 RCV004540072
NM_003482.4(KMT2D):c.14474G>A (p.Arg4825Gln)	SNV Germline	Chr12:49028050	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome Inborn genetic diseases KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA6545735	rs_758494772	5 SubmittersRCV000734492 RCV001855815 RCV002536521 RCV004540074
NM_003482.4(KMT2D):c.2264G>A (p.Arg755Gln)	SNV Germline	Chr12:49051419	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6548300	rs_776110112	3 SubmittersRCV000734860 RCV005092159
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	CA479715126	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	CA384649167	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	CA384694382	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	CA384647557	rs_1565807707	1 SubmittersRCV000760196
NM_003482.4(KMT2D):c.16018C>T (p.Arg5340Ter)	SNV Germline	Chr12:49024612	Pathogenic	Condition: not provided Kabuki syndrome Inborn genetic diseases Kabuki syndrome 1 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Kabuki syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA384681292	rs_1565756115	5 SubmittersRCV000760462 RCV001855926 RCV002533836 RCV002285172 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	CA10392470	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	CA384688593	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 Condition: not provided Kabuki syndrome Kabuki syndrome 1 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA6546287	rs_751367935	5 SubmittersRCV000768008 RCV001572528 RCV001869057 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 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications	CA236648061	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 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6547141	rs_757300574	2 SubmittersRCV000768010 RCV003224416 RCV002533930
NM_003482.4(KMT2D):c.1408C>T (p.Pro470Ser)	SNV Germline	Chr12:49052275	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Kabuki syndrome Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Kabuki syndrome 1	Criteria Provided Conflicting Classifications	CA384675021	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 Kabuki syndrome See cases Branchial cleft anomaly KMT2D-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA384677611	rs_1565753611	7 SubmittersRCV000782029 RCV002509534 RCV003588678 RCV003156134 RCV004798870 RCV004535913
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	CA6546756	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	CA384742497	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	CA384723932	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	CA384733482	rs_1592129081	1 SubmittersRCV000786997
NM_003482.4(KMT2D):c.8229+1G>A	SNV Germline	Chr12:49039434	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA384743234	rs_1592133086	1 SubmittersRCV000789030
NM_003482.4(KMT2D):c.12715C>T (p.Gln4239Ter)	SNV Germline	Chr12:49031990	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter	CA384709663	rs_1592117125	1 SubmittersRCV000807749
NM_003482.4(KMT2D):c.12339A>G (p.Gly4113=)	SNV Germline	Chr12:49032366	Conflicting classifications of pathogenicity	Kabuki syndrome Kabuki syndrome 1 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	Criteria Provided Conflicting Classifications	CA6546218	rs_758558608	2 SubmittersRCV000807396 RCV005012341
NM_003482.4(KMT2D):c.11971C>T (p.Gln3991Ter)	SNV Germline	Chr12:49032734	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter	CA384713706	rs_1592118953	1 SubmittersRCV000800601
NM_003482.4(KMT2D):c.11968C>T (p.Gln3990Ter)	SNV Germline	Chr12:49032737	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter	CA384713719	rs_1592118976	1 SubmittersRCV000804521
NM_003482.4(KMT2D):c.8953A>T (p.Lys2985Ter)	SNV Germline	Chr12:49038403	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter	CA384740262	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 Multiple Submitters No Conflicts	CA384743388	rs_1565790749	3 SubmittersRCV000809405 RCV001261270
NM_003482.4(KMT2D):c.8044C>T (p.Gln2682Ter)	SNV Germline	Chr12:49039726	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter	CA384745641	rs_1592133696	1 SubmittersRCV000815717
NM_003482.4(KMT2D):c.6496C>T (p.Gln2166Ter)	SNV Germline	Chr12:49041274	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter	CA384750667	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	CA384626456	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	CA384653371	rs_1592151169	1 SubmittersRCV000799599
NM_003482.4(KMT2D):c.1529C>G (p.Ser510Ter)	SNV Germline	Chr12:49052154	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter	CA384674605	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	CA329050312	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	CA412806633	rs_1602985802	1 SubmittersRCV000803634
NM_001291415.2(KDM6A):c.4207C>T (p.Arg1403Ter)	SNV Germline	ChrX:45110124	Pathogenic/Likely pathogenic	Kabuki syndrome 2 Anemia	Criteria Provided Multiple Submitters No Conflicts	CA412777018	rs_1318649487	4 SubmittersRCV000798575 RCV005626218
NM_003482.4(KMT2D):c.5868-1G>A	SNV Germline	Chr12:49042331	Likely pathogenic	Kabuki syndrome	Criteria Provided Single Submitter	CA384627841	rs_867333942	1 SubmittersRCV000807741
NM_003482.4(KMT2D):c.14076-2A>C	SNV Germline	Chr12:49029238	Likely pathogenic	Kabuki syndrome	Criteria Provided Single Submitter	CA384698011	rs_1592110749	1 SubmittersRCV000818246
NM_003482.4(KMT2D):c.5319+1G>A	SNV Germline	Chr12:49043867	Likely pathogenic	Kabuki syndrome	Criteria Provided Single Submitter	CA384634234	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	CA412785336	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	CA412802292	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	CA412777667	rs_1603068073	1 SubmittersRCV000850404
NM_003482.4(KMT2D):c.15089G>A (p.Arg5030His)	SNV Germline	Chr12:49026877	Pathogenic/Likely pathogenic	Kabuki syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA384690103	rs_1592105909	2 SubmittersRCV000850498 RCV005411587
NM_003482.4(KMT2D):c.6010C>T (p.Gln2004Ter)	SNV Germline	Chr12:49042188	Pathogenic	Kabuki syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA384627084	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	CA329567477	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	CA384627828	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	CA384634729	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	CA6547142	rs_377504041	3 SubmittersRCV000946376 RCV002546009 RCV004543552
NM_003482.4(KMT2D):c.3907-9T>G	SNV Germline	Chr12:49049227	Conflicting classifications of pathogenicity	not specified Condition: not provided Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6547950	rs_367751308	3 SubmittersRCV001818700 RCV000895124 RCV002065615
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	CA6546121	rs_768584961	2 SubmittersRCV000943965 RCV001435489
NM_003482.4(KMT2D):c.10926G>A (p.Gln3642=)	SNV Germline	Chr12:49033779	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome 1 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6546401	rs_770535654	3 SubmittersRCV000930034 RCV005012396 RCV005092810
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA6545644	rs_200747934	4 SubmittersRCV000988830 RCV001510488 RCV004536015 RCV005256733
NM_003482.4(KMT2D):c.8230-1G>A	SNV Unknown	Chr12:49039359	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA384743207	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	CA384749071	rs_1592136242	1 SubmittersRCV000988838
NM_003482.4(KMT2D):c.176+1G>A	SNV Unknown	Chr12:49054899	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA384689580	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	CA6545625	rs_761108868	4 SubmittersRCV001819701 RCV001858750 RCV000992311
NM_003482.4(KMT2D):c.14413G>A (p.Glu4805Lys)	SNV Germline	Chr12:49028111	Conflicting classifications of pathogenicity	Condition: not provided Kabuki syndrome not specified	Criteria Provided Conflicting Classifications	CA6545747	rs_563335387	4 SubmittersRCV000992309 RCV001858749 RCV005236507
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	CA236640104	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 Kabuki syndrome 1	Criteria Provided Conflicting Classifications	CA6547163	rs_758685548	4 SubmittersRCV000992315 RCV002549793 RCV002275178
NM_003482.4(KMT2D):c.12889T>C (p.Ser4297Pro)	SNV Germline	Chr12:49031816	Conflicting classifications of pathogenicity	Kabuki syndrome 1 Condition: not provided Kabuki syndrome Inborn genetic diseases KMT2D-related disorder	Criteria Provided Conflicting Classifications	CA6546110	rs_370243498	6 SubmittersRCV001002641 RCV001683722 RCV001410364 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 Kabuki syndrome 1 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	Criteria Provided Conflicting Classifications	CA6548655	rs_766543419	5 SubmittersRCV001000836 RCV001858913 RCV003392728 RCV004545007 RCV005012433
NM_003482.4(KMT2D):c.7228C>T (p.Arg2410Ter)	SNV Germline	Chr12:49040542	Pathogenic	Kabuki syndrome Kabuki syndrome 1 Microcephaly Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA384748129	rs_1943461045	4 SubmittersRCV001390429 RCV001352916 RCV001252695 RCV003147574
NM_003482.4(KMT2D):c.166C>T (p.Gln56Ter)	SNV Germline	Chr12:49054910	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA384689736	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	CA384686251	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	CA384688763	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	CA384689319	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	CA384689428	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	CA384739582	rs_1943319609	1 SubmittersRCV001066351
NM_003482.4(KMT2D):c.5149C>T (p.Gln1717Ter)	SNV Germline	Chr12:49044239	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter	CA384636341	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	CA6546831	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	CA6547552	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 Inborn genetic diseases Kabuki syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA384699443	rs_1188206999	4 SubmittersRCV001095777 RCV002554883 RCV003769039 RCV001759864
NM_003482.4(KMT2D):c.14575C>T (p.Gln4859Ter)	SNV Unknown	Chr12:49027871	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA384694323	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	CA384750318	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 KMT2D-related disorder Kabuki syndrome	Criteria Provided Conflicting Classifications	CA6548401	rs_372919446	3 SubmittersRCV001197423 RCV004528409 RCV001863113
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	CA6548450	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	CA384691140	rs_1942631986	1 SubmittersRCV001219587
NM_003482.4(KMT2D):c.11902C>T (p.Gln3968Ter)	SNV Germline	Chr12:49032803	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter	CA384714241	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	CA6547153	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	CA6545857	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 Multiple Submitters No Conflicts	CA384717936	rs_1943040858	3 SubmittersRCV001211934 RCV001261303
NM_003482.4(KMT2D):c.8386C>T (p.Gln2796Ter)	SNV Germline	Chr12:49038970	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter	CA384742434	rs_1555191210	1 SubmittersRCV001227532
NM_003482.4(KMT2D):c.7769C>A (p.Ser2590Ter)	SNV Germline	Chr12:49040001	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter	CA384746892	rs_760007799	1 SubmittersRCV001227205
NM_003482.4(KMT2D):c.13225G>T (p.Glu4409Ter)	SNV Germline	Chr12:49031480	Pathogenic	Kabuki syndrome	Criteria Provided Single Submitter	CA384706826	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	CA412802510	rs_1195711941	1 SubmittersRCV001238223
NM_003482.4(KMT2D):c.16338+1G>A	SNV Germline	Chr12:49022589	Likely pathogenic	Kabuki syndrome	Criteria Provided Single Submitter	CA384677310	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	CA412807227	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	CA6547299	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	CA384656457	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	CA384751417	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	CA384653623	rs_1937821838	1 SubmittersRCV001252037
NM_003482.4(KMT2D):c.8366+2T>G	SNV Germline	Chr12:49039220	Pathogenic	Kabuki syndrome 1	Criteria Provided Single Submitter	CA384742485	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	CA413020371	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	CA412781211	rs_2044199885	1 SubmittersRCV001254086
NM_003482.4(KMT2D):c.10624C>G (p.Leu3542Val)	SNV Germline	Chr12:49034183	Conflicting classifications of pathogenicity	6 conditions Kabuki syndrome 1	Criteria Provided Conflicting Classifications	CA384727899	rs_1943099362	2 SubmittersRCV002468626 RCV001254684
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	CA6547209	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	CA6548629	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	CA412803276	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	CA1139662645	rs_1942367824	1 SubmittersRCV001261215
NM_003482.4(KMT2D):c.14076-1G>A	SNV Germline	Chr12:49029237	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided	CA384698000	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	CA384742486	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	CA1139662679	rs_1943591477	1 SubmittersRCV001261327
NM_003482.4(KMT2D):c.3906+2T>C	SNV Germline	Chr12:49049680	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided	CA384652282	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	CA1139662622	rs_199555464	1 SubmittersRCV001261311
NM_003482.4(KMT2D):c.400+2T>C	SNV Unknown	Chr12:49054526	Pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided	CA384687673	rs_1938283570	1 SubmittersRCV001261260
NM_001291415.2(KDM6A):c.443+5G>C	SNV Germline	ChrX:45011024	Pathogenic	Kabuki syndrome 2	No Assertion Criteria Provided	CA1139667485	rs_2041729565	1 SubmittersRCV001261238
NM_001291415.2(KDM6A):c.564+1G>T	SNV Germline	ChrX:45020731	Pathogenic	Kabuki syndrome 2	No Assertion Criteria Provided	CA413023008	rs_2042138847	1 SubmittersRCV001261240
NM_001291415.2(KDM6A):c.619+6T>C	SNV Germline	ChrX:45034991	Pathogenic	Kabuki syndrome 2	No Assertion Criteria Provided	CA1139667489	rs_2042747021	1 SubmittersRCV001261241
NM_001291415.2(KDM6A):c.620-2A>G	SNV Germline	ChrX:45037653	Pathogenic	Kabuki syndrome 2	No Assertion Criteria Provided	CA412773790	rs_2042875800	1 SubmittersRCV001261278
NM_001291415.2(KDM6A):c.875+1G>A	SNV Unknown	ChrX:45053956	Pathogenic	Kabuki syndrome 2	No Assertion Criteria Provided	CA412780020	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	CA412800624	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	CA412804909	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	CA384682348	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	CA384684857	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	CA384685275	rs_1942579666	1 SubmittersRCV001261211
NM_003482.4(KMT2D):c.15673C>T (p.Arg5225Cys)	SNV Germline	Chr12:49026293	Pathogenic	Kabuki syndrome 1 Kabuki syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA384685781	rs_1942584412	5 SubmittersRCV001261210 RCV001880013 RCV001586096 RCV004987012
NM_003482.4(KMT2D):c.15536G>T (p.Arg5179Leu)	SNV Germline	Chr12:49026430	Likely pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided	CA384687084	rs_267607237	1 SubmittersRCV001261209
NM_003482.4(KMT2D):c.15349T>G (p.Cys5117Gly)	SNV Germline	Chr12:49026617	Pathogenic	Kabuki syndrome 1 Kabuki syndrome	Criteria Provided Single Submitter	CA384688562	rs_1942604482	2 SubmittersRCV001261208 RCV005094245
NM_003482.4(KMT2D):c.15176A>G (p.His5059Arg)	SNV Germline	Chr12:49026790	Likely pathogenic	Kabuki syndrome 1	No Assertion Criteria Provided	CA384689373	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	CA384691463	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	CA384691680	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	CA384703106	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	CA384706885	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	CA384708332	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	CA384708416	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	CA384710576	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	CA384712258	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	CA384713619	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	CA384714738	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	CA384714999	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	CA384717081	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	CA384723009	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	CA384725670	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	CA384726806	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	CA384729354	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	CA384734317	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	CA384736524	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	CA384739549	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	CA384739925	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	CA384740909	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	CA384743031	rs_1943374805	1 SubmittersRCV001261349

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

SNV
Germline

Chr12:49026430

Pathogenic/Likely pathogenic

Kabuki syndrome
Condition: not provided
Kabuki syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA254197

rs_267607237

8 SubmittersRCV001043636 RCV000723481 RCV000007972

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
Kabuki syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA254200

rs_267607239

6 SubmittersRCV000007974 RCV001265824 RCV003588558 RCV003147277

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

Criteria Provided
Conflicting Classifications

CA222001

rs_398123710

4 SubmittersRCV000080118 RCV000723524 RCV003588574 RCV005003457

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

9 SubmittersRCV000146172 RCV000688592 RCV002243708

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

SNV
Germline

Chr12:49026824

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA222027

rs_398123724

9 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
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA222044

rs_398123734

3 SubmittersRCV000080154 RCV000659832 RCV005250015

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
KMT2D-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA160507

rs_143711798

12 SubmittersRCV000121380 RCV000365620 RCV000723541 RCV002055153 RCV003224138 RCV004537346 RCV004019552

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
KMT2D-related disorder
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA222086

rs_374724784

4 SubmittersRCV000080188 RCV004542768 RCV002055155

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
KMT2D-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA222092

rs_370414767

7 SubmittersRCV000080197 RCV001494744 RCV004542769 RCV003150943

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
Condition: not provided
Kabuki syndrome 1
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA160509

rs_201623566

10 SubmittersRCV000121381 RCV001521913 RCV001594848 RCV000988841 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
Kabuki syndrome 1
KMT2D-related disorder
Inborn genetic diseases
Kabuki syndrome 1
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

Criteria Provided
Conflicting Classifications

CA160539

rs_587778463

6 SubmittersRCV000121396 RCV002055349 RCV001781462 RCV004530010 RCV004639140 RCV005008027

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
Kabuki syndrome
Condition: not provided
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA160559

rs_587778466

5 SubmittersRCV000121406 RCV002515875 RCV000440700 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
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Kabuki syndrome 1

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
Inborn genetic diseases
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA160581

rs_200601717

6 SubmittersRCV000121417 RCV000224122 RCV002515876 RCV001087749 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

5 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
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Kabuki syndrome 1

Criteria Provided
Conflicting Classifications

CA160615

rs_587778480

4 SubmittersRCV000121434 RCV001854646 RCV004530012 RCV005008030

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

Neoplasm
Kabuki syndrome 1

Criteria Provided
Single Submitter

CA271604

rs_587783697

2 SubmittersRCV004668806 RCV000146179

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/somatic

Chr12:49031255

Pathogenic

Kabuki syndrome 1
Inborn genetic diseases
Kabuki syndrome
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA271590

rs_587783690

5 SubmittersRCV000146168 RCV000622817 RCV003753091 RCV005229974

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

Condition: not provided
Kabuki syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA271570

rs_587783682

4 SubmittersRCV004719714 RCV000146153

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 1
not specified
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA245010

rs_371444130

4 SubmittersRCV000146151 RCV000177997 RCV002055893

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

SNV
Germline

Chr12:49034473

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA271566

rs_201127814

4 SubmittersRCV000146149 RCV002055892 RCV004544339 RCV002225451

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

SNV
Germline

Chr12:49034855

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA271564

rs_35087111

3 SubmittersRCV000146148 RCV001857511 RCV005008051

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

SNV
Germline

Chr12:49038613

Pathogenic/Likely pathogenic

Kabuki syndrome 1
Condition: not provided
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA271664

rs_587783729

6 SubmittersRCV000146240 RCV004821984 RCV001857516

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

5 SubmittersRCV000146236 RCV004589639

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

SNV
Germline

Chr12:49040572

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA271657

rs_35111108

6 SubmittersRCV000146231 RCV001501756 RCV000516606 RCV005008054 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
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Kabuki syndrome 1

Criteria Provided
Conflicting Classifications

CA271653

rs_587783726

4 SubmittersRCV000146227 RCV001338541 RCV004691765 RCV005008053

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

SNV
Germline

Chr12:49040963

Conflicting classifications of pathogenicity

Kabuki syndrome 1
not specified
Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA180144

rs_73302197

6 SubmittersRCV000146226 RCV000153415 RCV000343763 RCV001711587

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

Criteria Provided
Conflicting Classifications

CA271650

rs_587783724

5 SubmittersRCV000146223 RCV001857514 RCV004758649 RCV005008052

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

Criteria Provided
Conflicting Classifications

CA172422

rs_200192746

6 SubmittersRCV000146196 RCV000659703 RCV001709495 RCV001404137 RCV003224166

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

SNV
Germline

Chr12:49051451

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA172419

rs_200155807

5 SubmittersRCV000146193 RCV000725951 RCV002055897 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

4 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.12261C>G (p.Ser4087Arg)

SNV
Germline

Chr12:49032444

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA234170

rs_727503982

3 SubmittersRCV000153411 RCV005008059 RCV005089743

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 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA239236

rs_376911077

4 SubmittersRCV000173778 RCV002492730 RCV002516599

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

SNV
Germline

Chr12:49049699

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA239552

rs_746084513

4 SubmittersRCV000174077 RCV003224188 RCV001316081 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
Inborn genetic diseases
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Kabuki syndrome 1
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA243748

rs_373858319

7 SubmittersRCV000177539 RCV001078907 RCV001818429 RCV005361071 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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA243759

rs_201114196

6 SubmittersRCV000177546 RCV000358195 RCV000659750 RCV004539652 RCV005589782

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

SNV
Germline

Chr12:49040724

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA202516

rs_201581582

5 SubmittersRCV000177547 RCV001522735 RCV000659746 RCV001618333 RCV004537435

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

SNV
Germline

Chr12:49039867

Pathogenic

Condition: not provided
Kabuki syndrome
Kabuki syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA275202

rs_794727549

4 SubmittersRCV000177549 RCV002517716 RCV005603606

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

SNV
Germline

Chr12:49038432

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
not specified

Criteria Provided
Conflicting Classifications

CA244676

rs_770885860

3 SubmittersRCV000177773 RCV002516752 RCV005417994

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
Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA277305

rs_797045659

8 SubmittersRCV000194362 RCV000484393 RCV001382673 RCV001266906

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
KMT2D-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA208189

rs_746841307

4 SubmittersRCV000194184 RCV000697204 RCV004758667 RCV002517944

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

SNV
Germline

Chr12:49052193

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA206392

rs_371421459

6 SubmittersRCV000193123 RCV001444865 RCV004530128 RCV001576341

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

Criteria Provided
Conflicting Classifications

CA3954392

rs_147441359

6 SubmittersRCV000238885 RCV000649294 RCV000578131 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

Condition: not provided
Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10603301

rs_886041398

7 SubmittersRCV000283712 RCV000578361 RCV000557296

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

SNV
Germline

Chr12:49026823

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10603305

rs_886041404

10 SubmittersRCV000505249 RCV000376655 RCV004535247 RCV001220983

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

5 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
not specified

Criteria Provided
Conflicting Classifications

CA6546967

rs_375980443

3 SubmittersRCV000263871 RCV002519094 RCV005434757

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

Criteria Provided
Conflicting Classifications

CA6546986

rs_200998047

7 SubmittersRCV000394346 RCV002059096 RCV004758681 RCV005396867 RCV005434758

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

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

Criteria Provided
Conflicting Classifications

CA6547988

rs_201794205

5 SubmittersRCV003391043 RCV000396358 RCV001498841 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.4389C>T (p.Thr1463=)

SNV
Germline

Chr12:49046638

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547845

rs_372775501

4 SubmittersRCV000280514 RCV000872410 RCV005008252 RCV003391046

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10605587

rs_886043497

8 SubmittersRCV000725904 RCV000594764 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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6546838

rs_368967997

6 SubmittersRCV000265067 RCV001287103 RCV001403678 RCV005365227

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

SNV
Germline

Chr12:49030381

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6545863

rs_373146997

3 SubmittersRCV000353239 RCV005008258 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
KMT2D-related disorder
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6547274

rs_543241831

5 SubmittersRCV000366916 RCV004537611 RCV003114459

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

3 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
Kabuki syndrome
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Kabuki syndrome 1
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6545511

rs_199593058

6 SubmittersRCV000768006 RCV001859847 RCV003224256 RCV002520810 RCV000733020

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

CA10632919

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

CA6547583

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

CA6547929

rs_750081274

2 SubmittersRCV002033307 RCV004536365

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

SNV
Germline

Chr12:49050946

Conflicting classifications of pathogenicity

KMT2D-related disorder
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6548199

rs_199724002

2 SubmittersRCV004537742 RCV001346479

NM_003482.4(KMT2D):c.14161C>T (p.Arg4721Cys)

SNV
Germline

Chr12:49029151

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6545817

rs_777064703

3 SubmittersRCV000308871 RCV005411410 RCV005008286

NM_003482.4(KMT2D):c.11671G>A (p.Ala3891Thr)

SNV
Germline

Chr12:49033034

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder
Condition: not provided
not specified
Left ventricular noncompaction

Criteria Provided
Conflicting Classifications

CA10637636

rs_886049476

5 SubmittersRCV001894377 RCV004758831 RCV003883713 RCV004526152 RCV005626516

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
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA6547878

rs_202217665

7 SubmittersRCV000277260 RCV000659716 RCV001706470 RCV004544537 RCV005589813 RCV005434801

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.15686G>A (p.Arg5229His)

SNV
Germline

Chr12:49026280

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6545514

rs_201628357

3 SubmittersRCV003390222 RCV005012947 RCV005100017

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

SNV
Germline

Chr12:49031446

Conflicting classifications of pathogenicity

Kabuki syndrome
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6546053

rs_375999143

3 SubmittersRCV001512878 RCV002248517 RCV004639208

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

CA6546078

rs_533214351

2 SubmittersRCV003588909 RCV004536662

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

SNV
Germline

Chr12:49033971

Conflicting classifications of pathogenicity

Condition: not provided
KMT2D-related disorder
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6546437

rs_550510739

4 SubmittersRCV000594856 RCV004537736 RCV001521254

NM_003482.4(KMT2D):c.5594C>T (p.Thr1865Ile)

SNV
Germline

Chr12:49043126

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10642425

rs_886049481

3 SubmittersRCV002659617 RCV004758913 RCV005011084

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

SNV
Germline

Chr20:32795493

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9810462

rs_143462810

5 SubmittersRCV000578148 RCV000371781 RCV001618596 RCV000859904 RCV002265745

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

SNV
Germline

Chr12:49029400

Pathogenic/Likely pathogenic

Kabuki syndrome 1
Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA10654764

rs_1057516039

4 SubmittersRCV000408635 RCV002523836 RCV002524612

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

SNV
Germline/somatic

Chr12:49031861

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16042794

rs_1057517992

11 SubmittersRCV000413702 RCV000594502 RCV000984092 RCV004530513 RCV004668916 RCV003588627

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_003482.4(KMT2D):c.3118T>C (p.Ser1040Pro)

SNV
Germline

Chr12:49050470

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA16603288

rs_970636133

2 SubmittersRCV000444580 RCV005090700

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

3 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
Kabuki syndrome 1
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

Criteria Provided
Conflicting Classifications

CA6548774

rs_371342351

3 SubmittersRCV000578142 RCV003753126 RCV005010415

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.299G>C (p.Gly100Ala)

SNV
Germline

Chr12:49054629

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6548747

rs_371058953

2 SubmittersRCV000512897 RCV005091165

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
Inborn genetic diseases
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA6546819

rs_201681639

4 SubmittersRCV000514112 RCV002060204 RCV005348143 RCV004535658

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

SNV
Germline

Chr12:49034472

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6546500

rs_371223664

3 SubmittersRCV000514006 RCV002524982 RCV001857866

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

SNV
Germline

Chr12:49033427

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6546331

rs_373071174

4 SubmittersRCV000514113 RCV001041581 RCV001821440 RCV002524987

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

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

Criteria Provided
Conflicting Classifications

CA6545452

rs_745599611

5 SubmittersRCV001542416 RCV002473031 RCV002525046 RCV005010470 RCV000516233

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

Criteria Provided
Conflicting Classifications

CA384745891

rs_1258008817

7 SubmittersRCV000517847 RCV000730803 RCV000659759 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
KMT2D-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6546701

rs_200089754

5 SubmittersRCV000594517 RCV002062068 RCV004543366 RCV003160039

NM_003482.4(KMT2D):c.8090G>A (p.Arg2697His)

SNV
Germline

Chr12:49039574

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6546914

rs_774178055

3 SubmittersRCV000594565 RCV001336570 RCV005056263

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
Intellectual disability
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA384747665

rs_1292048668

4 SubmittersRCV000592375 RCV001854069 RCV005625699 RCV005589866

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
Condition: not provided
Kabuki syndrome
Kabuki syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA384713842

rs_1555188379

4 SubmittersRCV000624430 RCV001788303 RCV001202175 RCV001261352

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

Criteria Provided
Multiple Submitters
No Conflicts

CA384751452

rs_1452715535

10 SubmittersRCV000622445 RCV000760463 RCV000659734 RCV001257646 RCV004533293

NM_003482.4(KMT2D):c.4485C>A (p.Tyr1495Ter)

SNV
Germline

Chr12:49046358

Pathogenic

Inborn genetic diseases
Kabuki syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA236614816

rs_574622908

2 SubmittersRCV000624308 RCV005410909

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

Pathogenic/Likely pathogenic

Kabuki syndrome
Kabuki syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA384677297

rs_1555184777

2 SubmittersRCV000638431 RCV005223081

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 1
Kabuki syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA384677189

rs_1422752351

5 SubmittersRCV000659834 RCV000638437 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
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Kabuki syndrome 1

Criteria Provided
Conflicting Classifications

CA6547247

rs_765654409

3 SubmittersRCV000638427 RCV000763856 RCV004533338 RCV005010620

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

CA384749125

rs_1196495584

2 SubmittersRCV000658462 RCV003588661

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

SNV
Germline

Chr12:49022589

Pathogenic/Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA384677302

rs_1555184782

2 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

CA384686131

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

CA384686637

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

CA384686824

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

Criteria Provided
Conflicting Classifications

CA6545553

rs_752976776

3 SubmittersRCV000659823 RCV002066964 RCV005010645

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

SNV
Germline

Chr12:49026680

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384688776

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

CA384691434

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

CA384694837

rs_1555186232

1 SubmittersRCV000659815

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

SNV
Germline

Chr12:49029123

Pathogenic/Likely pathogenic

Condition: not provided
Kabuki syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA384697218

rs_1555186527

3 SubmittersRCV001268133 RCV000659813

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

SNV
Germline

Chr12:49029479

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA645594484

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

CA6545982

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

CA384704834

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

CA384706852

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

CA384709146

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

CA6546184

rs_532360713

2 SubmittersRCV000659800 RCV003753151

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

SNV
Germline

Chr12:49032236

Pathogenic/Likely pathogenic

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA384711398

rs_1555188080

4 SubmittersRCV000659798 RCV005091901

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

SNV
Germline

Chr12:49032857

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384714757

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

CA384716364

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

CA384717237

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

CA384724363

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
Inborn genetic diseases
Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6546473

rs_777638253

4 SubmittersRCV000659781 RCV005357878 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

CA6546497

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

CA384729055

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

CA384729292

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

CA384732499

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

Criteria Provided
Conflicting Classifications

CA384737939

rs_1555190514

3 SubmittersRCV000659774 RCV003753149 RCV005010644

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

SNV
Germline

Chr12:49038777

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6546818

rs_377747403

4 SubmittersRCV000659768 RCV002225706 RCV001481332 RCV004533447

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

SNV
Germline

Chr12:49038840

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384741995

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA384742390

rs_1239905273

4 SubmittersRCV000659765 RCV003753148 RCV005589876

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

CA384742399

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

CA6546912

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

CA384746419

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

CA384747726

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

CA6547080

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

CA6547219

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

CA6547456

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

CA6547469

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

CA384631178

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

CA384641435

rs_1290729871

1 SubmittersRCV000659723

NM_003482.4(KMT2D):c.4724T>C (p.Met1575Thr)

SNV
Germline

Chr12:49045937

Conflicting classifications of pathogenicity

Kabuki syndrome 1
KMT2D-related disorder
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA384643797

rs_1555194803

3 SubmittersRCV000659722 RCV004758719 RCV005091900

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

SNV
Germline

Chr12:49048659

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA479514460

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

CA384650104

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

CA6547933

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

CA236618364

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

CA384661153

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

CA384665579

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

CA6548389

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

CA236622172

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

CA384680516

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

CA384687311

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

CA479715524

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

CA384691060

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

CA10392569

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

CA412808134

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

CA384681291

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

CA384665640

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

CA384728686

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

CA236647277

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

Criteria Provided
Conflicting Classifications

CA236623898

rs_976882824

3 SubmittersRCV000697354 RCV001291752 RCV005010703

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

SNV
Germline

Chr12:49034237

Pathogenic

Branchial cleft anomaly
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA384728198

rs_1565780936

2 SubmittersRCV004798858 RCV000702805

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

SNV
Germline

Chr12:49046668

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384646899

rs_767737749

1 SubmittersRCV000685040

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

SNV
Germline

Chr12:49032824

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384714434

rs_1565776616

1 SubmittersRCV000705834

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

SNV
Germline

Chr12:49043924

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384634873

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

CA384747277

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

CA412799777

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

CA412808076

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

CA6546070

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

CA6547269

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

CA236630268

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

CA6546318

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

CA6548458

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

CA6548217

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

Criteria Provided
Conflicting Classifications

CA6546598

rs_372740284

4 SubmittersRCV000732648 RCV001855689 RCV005004395

NM_003482.4(KMT2D):c.690A>C (p.Ala230=)

SNV
Germline

Chr12:49053625

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6548669

rs_752905665

2 SubmittersRCV000733049 RCV005056490

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

SNV
Germline

Chr12:49033525

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6546351

rs_777628634

2 SubmittersRCV001063842 RCV000733445

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

CA6547124

rs_376483324

3 SubmittersRCV000733975 RCV002067160 RCV004540072

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

SNV
Germline

Chr12:49028050

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6545735

rs_758494772

5 SubmittersRCV000734492 RCV001855815 RCV002536521 RCV004540074

NM_003482.4(KMT2D):c.2264G>A (p.Arg755Gln)

SNV
Germline

Chr12:49051419

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6548300

rs_776110112

3 SubmittersRCV000734860 RCV005092159

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

CA479715126

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

CA384649167

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

CA384694382

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

CA384647557

rs_1565807707

1 SubmittersRCV000760196

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

SNV
Germline

Chr12:49024612

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA384681292

rs_1565756115

5 SubmittersRCV000760462 RCV001855926 RCV002533836 RCV002285172 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

CA10392470

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

CA384688593

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

Criteria Provided
Conflicting Classifications

CA6546287

rs_751367935

5 SubmittersRCV000768008 RCV001572528 RCV001869057 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
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA236648061

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

Criteria Provided
Conflicting Classifications

CA6547141

rs_757300574

2 SubmittersRCV000768010 RCV003224416 RCV002533930

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

SNV
Germline

Chr12:49052275

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384675021

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
Kabuki syndrome
See cases
Branchial cleft anomaly
KMT2D-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA384677611

rs_1565753611

7 SubmittersRCV000782029 RCV002509534 RCV003588678 RCV003156134 RCV004798870 RCV004535913

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

CA6546756

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

CA384742497

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

CA384723932

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

CA384733482

rs_1592129081

1 SubmittersRCV000786997

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

SNV
Germline

Chr12:49039434

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384743234

rs_1592133086

1 SubmittersRCV000789030

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

SNV
Germline

Chr12:49031990

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384709663

rs_1592117125

1 SubmittersRCV000807749

NM_003482.4(KMT2D):c.12339A>G (p.Gly4113=)

SNV
Germline

Chr12:49032366

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6546218

rs_758558608

2 SubmittersRCV000807396 RCV005012341

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

SNV
Germline

Chr12:49032734

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384713706

rs_1592118953

1 SubmittersRCV000800601

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

SNV
Germline

Chr12:49032737

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384713719

rs_1592118976

1 SubmittersRCV000804521

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

SNV
Germline

Chr12:49038403

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384740262

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
Multiple Submitters
No Conflicts

CA384743388

rs_1565790749

3 SubmittersRCV000809405 RCV001261270

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

SNV
Germline

Chr12:49039726

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384745641

rs_1592133696

1 SubmittersRCV000815717

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

SNV
Germline

Chr12:49041274

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384750667

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

CA384626456

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

CA384653371

rs_1592151169

1 SubmittersRCV000799599

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

SNV
Germline

Chr12:49052154

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384674605

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

CA329050312

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

CA412806633

rs_1602985802

1 SubmittersRCV000803634

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

SNV
Germline

ChrX:45110124

Pathogenic/Likely pathogenic

Kabuki syndrome 2
Anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA412777018

rs_1318649487

4 SubmittersRCV000798575 RCV005626218

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

SNV
Germline

Chr12:49042331

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384627841

rs_867333942

1 SubmittersRCV000807741

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

SNV
Germline

Chr12:49029238

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384698011

rs_1592110749

1 SubmittersRCV000818246

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

SNV
Germline

Chr12:49043867

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384634234

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

CA412785336

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

CA412802292

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

CA412777667

rs_1603068073

1 SubmittersRCV000850404

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

SNV
Germline

Chr12:49026877

Pathogenic/Likely pathogenic

Kabuki syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA384690103

rs_1592105909

2 SubmittersRCV000850498 RCV005411587

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

SNV
Germline

Chr12:49042188

Pathogenic

Kabuki syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA384627084

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

CA329567477

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

CA384627828

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

CA384634729

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

CA6547142

rs_377504041

3 SubmittersRCV000946376 RCV002546009 RCV004543552

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

SNV
Germline

Chr12:49049227

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6547950

rs_367751308

3 SubmittersRCV001818700 RCV000895124 RCV002065615

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

CA6546121

rs_768584961

2 SubmittersRCV000943965 RCV001435489

NM_003482.4(KMT2D):c.10926G>A (p.Gln3642=)

SNV
Germline

Chr12:49033779

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6546401

rs_770535654

3 SubmittersRCV000930034 RCV005012396 RCV005092810

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6545644

rs_200747934

4 SubmittersRCV000988830 RCV001510488 RCV004536015 RCV005256733

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

SNV
Unknown

Chr12:49039359

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384743207

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

CA384749071

rs_1592136242

1 SubmittersRCV000988838

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

SNV
Unknown

Chr12:49054899

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384689580

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

CA6545625

rs_761108868

4 SubmittersRCV001819701 RCV001858750 RCV000992311

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

SNV
Germline

Chr12:49028111

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6545747

rs_563335387

4 SubmittersRCV000992309 RCV001858749 RCV005236507

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

CA236640104

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
Kabuki syndrome 1

Criteria Provided
Conflicting Classifications

CA6547163

rs_758685548

4 SubmittersRCV000992315 RCV002549793 RCV002275178

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

SNV
Germline

Chr12:49031816

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6546110

rs_370243498

6 SubmittersRCV001002641 RCV001683722 RCV001410364 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
Kabuki syndrome 1
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

Criteria Provided
Conflicting Classifications

CA6548655

rs_766543419

5 SubmittersRCV001000836 RCV001858913 RCV003392728 RCV004545007 RCV005012433

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

SNV
Germline

Chr12:49040542

Pathogenic

Kabuki syndrome
Kabuki syndrome 1
Microcephaly
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA384748129

rs_1943461045

4 SubmittersRCV001390429 RCV001352916 RCV001252695 RCV003147574

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

SNV
Germline

Chr12:49054910

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384689736

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

CA384686251

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

CA384688763

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

CA384689319

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

CA384689428

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

CA384739582

rs_1943319609

1 SubmittersRCV001066351

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

SNV
Germline

Chr12:49044239

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384636341

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

CA6546831

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

CA6547552

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
Inborn genetic diseases
Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA384699443

rs_1188206999

4 SubmittersRCV001095777 RCV002554883 RCV003769039 RCV001759864

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

SNV
Unknown

Chr12:49027871

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384694323

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

CA384750318

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
KMT2D-related disorder
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6548401

rs_372919446

3 SubmittersRCV001197423 RCV004528409 RCV001863113

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

CA6548450

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

CA384691140

rs_1942631986

1 SubmittersRCV001219587

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

SNV
Germline

Chr12:49032803

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384714241

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

CA6547153

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

CA6545857

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
Multiple Submitters
No Conflicts

CA384717936

rs_1943040858

3 SubmittersRCV001211934 RCV001261303

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

SNV
Germline

Chr12:49038970

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384742434

rs_1555191210

1 SubmittersRCV001227532

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

SNV
Germline

Chr12:49040001

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384746892

rs_760007799

1 SubmittersRCV001227205

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

SNV
Germline

Chr12:49031480

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384706826

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

CA412802510

rs_1195711941

1 SubmittersRCV001238223

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

SNV
Germline

Chr12:49022589

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384677310

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

CA412807227

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

CA6547299

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

CA384656457

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

CA384751417

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

CA384653623

rs_1937821838

1 SubmittersRCV001252037

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

SNV
Germline

Chr12:49039220

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384742485

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

CA413020371

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

CA412781211

rs_2044199885

1 SubmittersRCV001254086

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

SNV
Germline

Chr12:49034183

Conflicting classifications of pathogenicity

6 conditions
Kabuki syndrome 1

Criteria Provided
Conflicting Classifications

CA384727899

rs_1943099362

2 SubmittersRCV002468626 RCV001254684

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

CA6547209

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

CA6548629

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

CA412803276

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

CA1139662645

rs_1942367824

1 SubmittersRCV001261215

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

SNV
Germline

Chr12:49029237

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

CA384698000

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

CA384742486

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

CA1139662679

rs_1943591477

1 SubmittersRCV001261327

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

SNV
Germline

Chr12:49049680

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

CA384652282

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

CA1139662622

rs_199555464

1 SubmittersRCV001261311

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

SNV
Unknown

Chr12:49054526

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

CA384687673

rs_1938283570

1 SubmittersRCV001261260

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

SNV
Germline

ChrX:45011024

Pathogenic

Kabuki syndrome 2

No Assertion Criteria Provided

CA1139667485

rs_2041729565

1 SubmittersRCV001261238

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

SNV
Germline

ChrX:45020731

Pathogenic

Kabuki syndrome 2

No Assertion Criteria Provided

CA413023008

rs_2042138847

1 SubmittersRCV001261240

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

SNV
Germline

ChrX:45034991

Pathogenic

Kabuki syndrome 2

No Assertion Criteria Provided

CA1139667489

rs_2042747021

1 SubmittersRCV001261241

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

SNV
Germline

ChrX:45037653

Pathogenic

Kabuki syndrome 2

No Assertion Criteria Provided

CA412773790

rs_2042875800

1 SubmittersRCV001261278

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

SNV
Unknown

ChrX:45053956

Pathogenic

Kabuki syndrome 2

No Assertion Criteria Provided

CA412780020

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

CA412800624

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

CA412804909

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

CA384682348

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

CA384684857

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

CA384685275

rs_1942579666

1 SubmittersRCV001261211

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

SNV
Germline

Chr12:49026293

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA384685781

rs_1942584412

5 SubmittersRCV001261210 RCV001880013 RCV001586096 RCV004987012

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

SNV
Germline

Chr12:49026430

Likely pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

CA384687084

rs_267607237

1 SubmittersRCV001261209

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

SNV
Germline

Chr12:49026617

Pathogenic

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Single Submitter

CA384688562

rs_1942604482

2 SubmittersRCV001261208 RCV005094245

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

SNV
Germline

Chr12:49026790

Likely pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

CA384689373

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

CA384691463

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

CA384691680

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

CA384703106

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

CA384706885

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

CA384708332

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

CA384708416

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

CA384710576

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

CA384712258

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

CA384713619

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

CA384714738

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

CA384714999

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

CA384717081

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

CA384723009

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

CA384725670

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

CA384726806

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

CA384729354

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

CA384734317

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

CA384736524

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

CA384739549

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

CA384739925

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

CA384740909

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

CA384743031

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

CA384749200

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

CA384750269

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

CA479511464

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

CA384627229

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

CA384628791

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

CA384645350

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

CA384646902

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

CA384649556

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

CA384650470

rs_1937710190

1 SubmittersRCV001261261

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

SNV
Germline

ChrX:45020680

Pathogenic

Kabuki syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10392196

rs_189751539

3 SubmittersRCV001261239

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

SNV
Germline

ChrX:45069729

Pathogenic

Kabuki syndrome 2

No Assertion Criteria Provided

CA412792799

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

CA412801726

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
Condition: not provided
KMT2D-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA6548633

rs_375915416

6 SubmittersRCV001363670 RCV001262241 RCV003135900 RCV004758786 RCV005437046

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

SNV
Germline

Chr12:49026691

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384688813

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

CA412783035

rs_2044215489

1 SubmittersRCV001265643

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

SNV
Germline

ChrX:45063728

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA412790411

rs_2044403163

5 SubmittersRCV001265857 RCV001382692 RCV001546647 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

CA384676242

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

CA412779012

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

CA384726635

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

Criteria Provided
Conflicting Classifications

CA384728088

rs_1943100257

5 SubmittersRCV001270729 RCV001550716 RCV003224539 RCV001880218

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

SNV
Germline

Chr12:49041330

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547266

rs_764604229

5 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
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Kabuki syndrome 1

Criteria Provided
Conflicting Classifications

CA6547548

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

Criteria Provided
Conflicting Classifications

CA6546685

rs_370155635

4 SubmittersRCV001289095 RCV005012719 RCV001863152

NM_003482.4(KMT2D):c.14519G>A (p.Gly4840Glu)

SNV
Germline

Chr12:49027927

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA236634483

rs_1054025123

2 SubmittersRCV001291663 RCV005094350

NM_003482.4(KMT2D):c.1421T>C (p.Leu474Ser)

SNV
Germline

Chr12:49052262

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA236621204

rs_544407449

2 SubmittersRCV001291677 RCV005094351

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

SNV
Germline

ChrX:44873616

Conflicting classifications of pathogenicity

Kabuki syndrome 2

Criteria Provided
Conflicting Classifications

CA10392100

rs_760601613

3 SubmittersRCV001291708

NM_003482.4(KMT2D):c.12673C>G (p.Leu4225Val)

SNV
Germline

Chr12:49032032

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA236639255

rs_949941431

3 SubmittersRCV001291801 RCV002538406 RCV005243501

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

CA6545962

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

Criteria Provided
Conflicting Classifications

CA236638904

rs_1038898344

3 SubmittersRCV001301555 RCV005012742 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

CA384640591

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

CA384682804

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

CA6548480

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

CA384719867

rs_2120442365

1 SubmittersRCV001645009

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

SNV
Germline

Chr12:49043429

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

CA6547530

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

CA236636792

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

CA384733013

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

CA6546878

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

CA384743144

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

CA384626523

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

CA6546018

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

CA6546741

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

CA236647940

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

CA6547629

rs_368795536

2 SubmittersRCV001336047 RCV002547347

NM_003482.4(KMT2D):c.2530C>A (p.Pro844Thr)

SNV
Germline

Chr12:49051153

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA384665610

rs_1196290590

3 SubmittersRCV001336045 RCV003227026 RCV005094435

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

SNV
Germline

Chr12:49054747

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384689395

rs_1938304119

4 SubmittersRCV001336043 RCV004531123 RCV005012783 RCV003120561

NM_003482.4(KMT2D):c.13703C>T (p.Ala4568Val)

SNV
Germline

Chr12:49030737

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6545921

rs_769668980

2 SubmittersRCV001341695 RCV005005841

NM_003482.4(KMT2D):c.12868C>G (p.Pro4290Ala)

SNV
Germline

Chr12:49031837

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6546113

rs_763571646

2 SubmittersRCV001341131 RCV005005839

NM_003482.4(KMT2D):c.12815G>A (p.Gly4272Asp)

SNV
Germline

Chr12:49031890

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6546129

rs_763518333

2 SubmittersRCV001338863 RCV005005835

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

SNV
Germline

Chr12:49032476

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6546228

rs_774148221

6 SubmittersRCV001343260 RCV001843586 RCV004528471 RCV005437094 RCV001587362

NM_003482.4(KMT2D):c.14650C>T (p.Pro4884Ser)

SNV
Germline

Chr12:49027316

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA236634127

rs_1019876289

2 SubmittersRCV001360073 RCV005005876

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

CA6546107

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

CA236646445

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

CA6548758

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

CA384677228

rs_2137705201

1 SubmittersRCV001377530

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

SNV
Germline

Chr12:49024710

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384682302

rs_2137710791

1 SubmittersRCV001378226

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

SNV
Germline

Chr12:49049219

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384652138

rs_2120632521

1 SubmittersRCV001378047

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

SNV
Germline

ChrX:45070358

Pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

CA412796368

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

CA412802997

rs_1374292312

2 SubmittersRCV001377333 RCV001762661

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

SNV
Germline

Chr12:49024947

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384683552

rs_2137712168

1 SubmittersRCV001387778

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

SNV
Germline

Chr12:49033127

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384717534

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

CA413021374

rs_2147263638

1 SubmittersRCV001384329

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

SNV
Germline

ChrX:45034930

Pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

CA412773140

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

CA6546402

rs_776329238

2 SubmittersRCV001402815 RCV004546648

NM_003482.4(KMT2D):c.11179C>T (p.Arg3727Cys)

SNV
Germline

Chr12:49033526

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6546352

rs_566069597

2 SubmittersRCV001423358 RCV005005933

NM_003482.4(KMT2D):c.11128G>A (p.Gly3710Arg)

SNV
Germline

Chr12:49033577

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA6546361

rs_757243984

3 SubmittersRCV001477302 RCV004540414 RCV005438086

NM_003482.4(KMT2D):c.11794C>G (p.Gln3932Glu)

SNV
Germline

Chr12:49032911

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA236639932

rs_958331584

4 SubmittersRCV001520039 RCV001587455 RCV005408940

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

CA10392570

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

CA6547702

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

CA6545410

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

CA6547310

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

CA384724711

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

Criteria Provided
Conflicting Classifications

CA6548520

rs_750774484

3 SubmittersRCV001542365 RCV005005953 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

CA6548744

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

CA384708398

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

CA384718565

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

CA6545801

rs_766829760

4 SubmittersRCV001551553 RCV002568332 RCV004542002

NM_003482.4(KMT2D):c.2132C>T (p.Pro711Leu)

SNV
Germline

Chr12:49051551

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA236619663

rs_893615522

4 SubmittersRCV001549770 RCV001882626 RCV004758809 RCV005395068

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

SNV
Germline

Chr12:49042089

Likely pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

CA384626590

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

CA6547427

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

CA6545518

rs_779303083

4 SubmittersRCV001561199 RCV001821889 RCV002568407

NM_003482.4(KMT2D):c.14071G>A (p.Val4691Ile)

SNV
Germline

Chr12:49029405

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6545838

rs_762462902

3 SubmittersRCV001561423 RCV002568408 RCV005348549

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

SNV
Germline

Chr12:49037871

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6546687

rs_773802581

5 SubmittersRCV001563177 RCV004039331 RCV004536190 RCV001865985 RCV005237902

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

CA6546858

rs_770978212

3 SubmittersRCV001560553 RCV002568402 RCV004536182

NM_003482.4(KMT2D):c.3907G>T (p.Gly1303Cys)

SNV
Germline

Chr12:49049218

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA384652129

rs_1412482088

4 SubmittersRCV001562570 RCV005094787 RCV005438092 RCV005590074

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

CA6548478

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

Criteria Provided
Conflicting Classifications

CA6545700

rs_374232950

5 SubmittersRCV001568238 RCV003588746 RCV004542015 RCV005005968

NM_001291415.2(KDM6A):c.1736C>G (p.Pro579Arg)

SNV
Germline

ChrX:45063474

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome 2

Criteria Provided
Conflicting Classifications

CA329046382

rs_1032545459

2 SubmittersRCV001564186 RCV005040320

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

CA6547579

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

CA2499226726

rs_2148117604

2 SubmittersRCV001578179 RCV002072277

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

SNV
Germline

ChrX:45063756

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10392447

rs_369284316

5 SubmittersRCV001866091 RCV001579524 RCV002573249 RCV003399389

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

CA6547099

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

CA6547681

rs_779260688

2 SubmittersRCV001591657 RCV002573301

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

SNV
Germline

Chr12:49031374

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA236638581

rs_748820389

5 SubmittersRCV005005982 RCV003753186 RCV001592638 RCV004039530 RCV004758818

NM_003482.4(KMT2D):c.7604G>A (p.Arg2535His)

SNV
Germline

Chr12:49040166

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547028

rs_756461524

3 SubmittersRCV001653110 RCV003753187 RCV005005986

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
KMT2D-related disorder
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6548098

rs_755939422

5 SubmittersRCV001665369 RCV002538545 RCV003234088 RCV004536242 RCV003753189

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

SNV
Germline

Chr12:49026655

Likely pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

CA384688691

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

Criteria Provided
Conflicting Classifications

CA6546993

rs_756597120

3 SubmittersRCV001663454 RCV002032648 RCV005396969

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

CA6547844

rs_758265897

5 SubmittersRCV001702317 RCV001821958 RCV002077162

NM_003482.4(KMT2D):c.14473C>T (p.Arg4825Trp)

SNV
Germline

Chr12:49028051

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6545736

rs_117904191

4 SubmittersRCV002032699 RCV001725900 RCV005005999

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

CA6547154

rs_752346893

2 SubmittersRCV001732325 RCV002032714

NM_003482.4(KMT2D):c.14747C>T (p.Pro4916Leu)

SNV
Germline

Chr12:49027219

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6545670

rs_529656123

3 SubmittersRCV001732512 RCV002073970 RCV005006000

NM_003482.4(KMT2D):c.10148G>A (p.Gly3383Asp)

SNV
Germline

Chr12:49037208

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6546603

rs_776462586

3 SubmittersRCV001732535 RCV003588757 RCV005006001

NM_003482.4(KMT2D):c.6647C>T (p.Ser2216Phe)

SNV
Germline

Chr12:49041123

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA384750182

rs_1466593517

2 SubmittersRCV001754197 RCV005094922

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

SNV
Germline

Chr12:49031303

Conflicting classifications of pathogenicity

Condition: not provided
KMT2D-related disorder
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6546031

rs_761717148

3 SubmittersRCV001756415 RCV004536278 RCV002539866

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

CA384675614

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

Criteria Provided
Conflicting Classifications

CA6547104

rs_750003992

3 SubmittersRCV001751997 RCV003588760 RCV005006011

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

Criteria Provided
Conflicting Classifications

CA6548690

rs_757625928

4 SubmittersRCV001756802 RCV003753195 RCV004758826 RCV005006021

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

CA10392125

rs_751146386

2 SubmittersRCV001756838 RCV001882898

NM_003482.4(KMT2D):c.5065C>T (p.Arg1689Cys)

SNV
Germline

Chr12:49044421

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6547650

rs_761386159

2 SubmittersRCV001756986 RCV005057588

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

CA6545608

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

CA6548344

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

CA6545898

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

CA412792935

rs_2148039110

2 SubmittersRCV001758638 RCV003642975

NM_003482.4(KMT2D):c.3752C>T (p.Ala1251Val)

SNV
Germline

Chr12:49049836

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA384653701

rs_1361062364

2 SubmittersRCV001767637 RCV005057589

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

SNV
Germline

Chr12:49031686

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6546085

rs_770911238

3 SubmittersRCV001767898 RCV005006025 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

CA10392798

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

CA236612954

rs_970144947

3 SubmittersRCV001774440 RCV002540477 RCV004988731

NM_003482.4(KMT2D):c.13568A>G (p.Lys4523Arg)

SNV
Germline

Chr12:49030996

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384703602

rs_752523300

3 SubmittersRCV001769311 RCV005006030 RCV005095033

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

CA384625500

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

Criteria Provided
Conflicting Classifications

CA236644562

rs_558965718

3 SubmittersRCV001772946 RCV002540554 RCV005006032

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

SNV
Germline

ChrX:45069805

Conflicting classifications of pathogenicity

Kabuki syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA329049845

rs_887019370

2 SubmittersRCV001885076 RCV001774718

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

SNV
Germline

Chr12:49026862

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384689938

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

CA412807107

rs_2148193855

3 SubmittersRCV001782333 RCV004728816

NM_003482.4(KMT2D):c.448T>C (p.Trp150Arg)

SNV
Germline

Chr12:49054369

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6548729

rs_764606893

3 SubmittersRCV001797477 RCV005006059 RCV005095159

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

SNV
Germline

ChrX:44873700

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Kabuki syndrome 2

Criteria Provided
Conflicting Classifications

CA329555544

rs_923984398

4 SubmittersRCV004988752 RCV001800030 RCV002541333

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

Criteria Provided
Conflicting Classifications

CA384631615

rs_1217603879

4 SubmittersRCV001806563 RCV001869484 RCV004536323 RCV005006063

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

CA6545472

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

CA384638752

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

CA384716095

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

CA412794608

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

CA384665696

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

CA384649814

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA384701840

rs_1187814622

3 SubmittersRCV001815741 RCV002542469 RCV005369961

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

CA236648335

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

CA6548649

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

CA384691565

rs_1406097470

2 SubmittersRCV001819465 RCV003753206

NM_003482.4(KMT2D):c.13710C>T (p.Thr4570=)

SNV
Germline

Chr12:49030730

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6545919

rs_781047520

3 SubmittersRCV001819616 RCV002074319 RCV005006073

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

SNV
Germline

Chr12:49041269

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547251

rs_751139032

3 SubmittersRCV001820231 RCV002074322 RCV005006075

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

CA479711658

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

CA6546692

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

CA6547173

rs_767236217

4 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

CA6547054

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

CA6546165

rs_375330730

2 SubmittersRCV001822645 RCV001869766

NM_003482.4(KMT2D):c.4163G>A (p.Arg1388Gln)

SNV
Germline

Chr12:49048038

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6547879

rs_202217665

2 SubmittersRCV001837222 RCV005057666

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

CA6545662

rs_771209224

2 SubmittersRCV001837294 RCV001869844

NM_003482.4(KMT2D):c.6628C>T (p.Pro2210Ser)

SNV
Germline

Chr12:49041142

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA384750245

rs_1324674144

2 SubmittersRCV001837330 RCV005095303

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

CA6545540

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

CA384685591

rs_2137715091

2 SubmittersRCV001849638 RCV002034773

NM_003482.4(KMT2D):c.5801A>G (p.Asn1934Ser)

SNV
Germline

Chr12:49042627

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547430

rs_756972898

2 SubmittersRCV001997335 RCV005006298

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

CA6545750

rs_373731411

2 SubmittersRCV001913727 RCV004720973

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

SNV
Germline

Chr12:49033015

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384716569

rs_1342235871

4 SubmittersRCV002002120 RCV002562094 RCV002503667 RCV004538653

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

SNV
Germline

ChrX:45069904

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome 2

Criteria Provided
Conflicting Classifications

CA412794069

rs_756545808

2 SubmittersRCV003481206 RCV001931665

NM_003482.4(KMT2D):c.9563C>T (p.Thr3188Met)

SNV
Germline

Chr12:49037793

Conflicting classifications of pathogenicity

Kabuki syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6546670

rs_762206028

2 SubmittersRCV002015106 RCV005406259

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

CA6546744

rs_748817042

2 SubmittersRCV001924154 RCV004821319

NM_003482.4(KMT2D):c.3983G>A (p.Arg1328Gln)

SNV
Germline

Chr12:49049142

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547932

rs_375635160

2 SubmittersRCV001905790 RCV005006158

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

SNV
Germline

Chr12:49043999

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA384635635

rs_2120577091

2 SubmittersRCV001991888 RCV005008382

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

CA6546703

rs_772418918

2 SubmittersRCV002036678 RCV004821322

NM_003482.4(KMT2D):c.2596A>G (p.Lys866Glu)

SNV
Germline

Chr12:49051087

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA384665486

rs_1487349760

3 SubmittersRCV001864985 RCV005235597 RCV005590116

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

SNV
Germline

ChrX:45069783

Pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

CA412793108

rs_1358181248

1 SubmittersRCV001864991

NM_003482.4(KMT2D):c.13723C>A (p.Leu4575Ile)

SNV
Germline

Chr12:49030717

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384702521

rs_776021061

2 SubmittersRCV001904792 RCV005006110

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

CA6547262

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

CA236633930

rs_957154857

3 SubmittersRCV001953204 RCV004542193 RCV004694031

NM_003482.4(KMT2D):c.7654C>A (p.Pro2552Thr)

SNV
Germline

Chr12:49040116

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384747265

rs_1228953847

2 SubmittersRCV002023306 RCV005008419

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

CA384630553

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

CA6548144

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

CA384680074

rs_2120694782

1 SubmittersRCV001907332

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

SNV
Germline

ChrX:44873988

Pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

CA413020570

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

Criteria Provided
Conflicting Classifications

CA6546108

rs_377128722

4 SubmittersRCV001905374 RCV002222734 RCV004758832 RCV005006116

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

CA236634117

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6547249

rs_758743247

3 SubmittersRCV001970897 RCV004529071 RCV005361887

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

CA384739175

rs_1233005055

3 SubmittersRCV001982430 RCV004542194 RCV004631857

NM_003482.4(KMT2D):c.9611C>T (p.Pro3204Leu)

SNV
Germline

Chr12:49037745

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA384737071

rs_1298038896

2 SubmittersRCV001977495 RCV002272550

NM_003482.4(KMT2D):c.4006A>G (p.Ile1336Val)

SNV
Germline

Chr12:49049119

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547927

rs_368451486

2 SubmittersRCV001943639 RCV005006239

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

SNV
Germline

Chr12:49040244

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384747531

rs_1373179700

3 SubmittersRCV001996971 RCV004538671 RCV005002707

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

SNV
Germline

Chr12:49052320

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384675151

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

CA6546589

rs_774540578

2 SubmittersRCV002042566 RCV004763305

NM_003482.4(KMT2D):c.11159A>G (p.Gln3720Arg)

SNV
Germline

Chr12:49033546

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA236640942

rs_967275526

2 SubmittersRCV001996670 RCV005397194

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

CA6548670

rs_758710579

2 SubmittersRCV002020049 RCV004538726

NM_003482.4(KMT2D):c.13034A>G (p.Lys4345Arg)

SNV
Germline

Chr12:49031671

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA236638853

rs_777630263

2 SubmittersRCV001894879 RCV005006124

NM_003482.4(KMT2D):c.3647C>A (p.Ala1216Asp)

SNV
Germline

Chr12:49049941

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384656103

rs_930578096

4 SubmittersRCV001926157 RCV004529052 RCV005006241 RCV005235610

NM_003482.4(KMT2D):c.15767C>G (p.Thr5256Ser)

SNV
Germline

Chr12:49026199

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA236633541

rs_971170451

2 SubmittersRCV001887190 RCV005006175

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

SNV
Germline

Chr12:49030355

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6545861

rs_200638996

4 SubmittersRCV001926414 RCV004546687 RCV005002676 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

CA6547451

rs_766123066

2 SubmittersRCV002006598 RCV002509742

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

SNV
Germline

Chr12:49033960

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384726634

rs_2120449499

3 SubmittersRCV002509715 RCV001922541 RCV004801081

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

SNV
Germline

Chr12:49054655

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384688748

rs_2120712071

1 SubmittersRCV002000093

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

SNV
Germline

Chr12:49041920

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384625995

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

CA412782971

rs_2147963446

1 SubmittersRCV002007550

NM_003482.4(KMT2D):c.13274C>T (p.Ala4425Val)

SNV
Germline

Chr12:49031431

Conflicting classifications of pathogenicity

Kabuki syndrome
not specified
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA236638664

rs_752531267

3 SubmittersRCV001900260 RCV005238029 RCV004538564

NM_003482.4(KMT2D):c.6896A>G (p.Tyr2299Cys)

SNV
Germline

Chr12:49040874

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547159

rs_750357369

2 SubmittersRCV002009640 RCV005008408

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

SNV
Germline

ChrX:45070359

Pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

CA412796379

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

CA384688343

rs_2120360235

1 SubmittersRCV002018131

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

SNV
Germline

Chr12:49027130

Conflicting classifications of pathogenicity

KMT2D-related disorder
Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6545651

rs_756017412

3 SubmittersRCV004538748 RCV002046281 RCV003134367

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

SNV
Germline

Chr12:49049693

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547964

rs_773797737

3 SubmittersRCV001876758 RCV005006106 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

CA6548377

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

CA384681332

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

CA6546088

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

Criteria Provided
Conflicting Classifications

CA6546985

rs_572359740

3 SubmittersRCV001913232 RCV002307788 RCV005006191

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

SNV
Germline

Chr12:49050466

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA6548114

rs_112615033

3 SubmittersRCV001894183 RCV004542146 RCV004699505

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

CA10392247

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

CA6547089

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

Criteria Provided
Conflicting Classifications

CA6545645

rs_777093715

3 SubmittersRCV001925097 RCV004779181 RCV005006196

NM_003482.4(KMT2D):c.4808T>C (p.Leu1603Pro)

SNV
Germline

Chr12:49044899

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547707

rs_769460876

2 SubmittersRCV001925445 RCV005006199

NM_003482.4(KMT2D):c.14470G>A (p.Ala4824Thr)

SNV
Germline

Chr12:49028054

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6545737

rs_759709365

2 SubmittersRCV002026083 RCV005008421

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

SNV
Germline

Chr12:49026430

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384687087

rs_267607237

1 SubmittersRCV002026116

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

SNV
Germline

Chr12:49053057

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA384678992

rs_1370093761

3 SubmittersRCV001931857 RCV004536388 RCV002548029

NM_003482.4(KMT2D):c.4900G>C (p.Ala1634Pro)

SNV
Germline

Chr12:49044807

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547692

rs_767489857

2 SubmittersRCV001887043 RCV005006162

NM_001291415.2(KDM6A):c.294A>G (p.Gln98=)

SNV
Germline

ChrX:44961352

Conflicting classifications of pathogenicity

Kabuki syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10392158

rs_200940558

3 SubmittersRCV001939164 RCV003883723

NM_003482.4(KMT2D):c.3455C>T (p.Pro1152Leu)

SNV
Germline

Chr12:49050133

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6548046

rs_765863571

6 SubmittersRCV002017095 RCV004641887 RCV005008415 RCV003388082 RCV003395357 RCV004538737

NM_003482.4(KMT2D):c.8799A>C (p.Lys2933Asn)

SNV
Germline

Chr12:49038557

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6546793

rs_766599883

2 SubmittersRCV002018196 RCV005232777

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

SNV
Germline

Chr12:49031741

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384708268

rs_376217891

1 SubmittersRCV001982947

NM_003482.4(KMT2D):c.3910C>T (p.Arg1304Cys)

SNV
Germline

Chr12:49049215

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6547947

rs_375144626

2 SubmittersRCV001903552 RCV005626541

NM_003482.4(KMT2D):c.1954C>T (p.Arg652Cys)

SNV
Germline

Chr12:49051729

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384669593

rs_1301516107

2 SubmittersRCV001959783 RCV005002690

NM_003482.4(KMT2D):c.8740C>T (p.His2914Tyr)

SNV
Germline

Chr12:49038616

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384740981

rs_1386859726

3 SubmittersRCV001883582 RCV004758834 RCV005006138

NM_003482.4(KMT2D):c.961C>T (p.Arg321Trp)

SNV
Germline

Chr12:49053066

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384679082

rs_1204392134

2 SubmittersRCV001891950 RCV005006141

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

SNV
Germline

Chr12:49040175

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547030

rs_749781307

3 SubmittersRCV001934869 RCV002272510 RCV005006114

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

SNV
Germline

Chr12:49034066

Pathogenic

Kabuki syndrome
Kabuki syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA384726800

rs_2120450900

2 SubmittersRCV001975051 RCV004776453

NM_003482.4(KMT2D):c.3699G>T (p.Glu1233Asp)

SNV
Germline

Chr12:49049889

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6548010

rs_759510649

3 SubmittersRCV001978340 RCV005008366 RCV004758851

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

SNV
Germline

Chr12:49034606

Conflicting classifications of pathogenicity

Kabuki syndrome
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA6546518

rs_773424975

3 SubmittersRCV002001975 RCV002561537 RCV005057809

NM_001291415.2(KDM6A):c.2038G>A (p.Ala680Thr)

SNV
Germline

ChrX:45063776

Conflicting classifications of pathogenicity

KDM6A-related disorder
Kabuki syndrome 2

Criteria Provided
Conflicting Classifications

CA10392451

rs_747505929

3 SubmittersRCV004744214 RCV002040803

NM_003482.4(KMT2D):c.11627T>G (p.Leu3876Arg)

SNV
Germline

Chr12:49033078

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384717114

rs_1943029611

2 SubmittersRCV001913967 RCV005006236

NM_001291415.2(KDM6A):c.1487A>G (p.Asn496Ser)

SNV
Germline

ChrX:45061325

Conflicting classifications of pathogenicity

Kabuki syndrome 2
KDM6A-related disorder
Primary dilated cardiomyopathy
Intellectual disability

Criteria Provided
Conflicting Classifications

CA329044836

rs_768863219

3 SubmittersRCV001892166 RCV003407884 RCV005622131 RCV005626531

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

SNV
Germline

Chr12:49034117

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384727338

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

CA6547547

rs_369800371

3 SubmittersRCV001940175 RCV003134233

NM_003482.4(KMT2D):c.14236C>T (p.Arg4746Trp)

SNV
Germline

Chr12:49029076

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA236635310

rs_371377859

3 SubmittersRCV001934155 RCV004538657 RCV005006272

NM_003482.4(KMT2D):c.12923C>T (p.Thr4308Ile)

SNV
Germline

Chr12:49031782

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6546103

rs_769751385

2 SubmittersRCV001954455 RCV005008317

NM_003482.4(KMT2D):c.3995C>T (p.Thr1332Ile)

SNV
Germline

Chr12:49049130

Conflicting classifications of pathogenicity

Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA384651501

rs_1220741239

2 SubmittersRCV002024863 RCV005592384

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

SNV
Germline

Chr12:49034269

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384728435

rs_2120455070

1 SubmittersRCV002071026

NM_003482.4(KMT2D):c.5735C>T (p.Pro1912Leu)

SNV
Germline

Chr12:49042788

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547460

rs_749783824

2 SubmittersRCV002171422 RCV005008469

NM_003482.4(KMT2D):c.6791G>C (p.Gly2264Ala)

SNV
Germline

Chr12:49040979

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA236648723

rs_568006089

2 SubmittersRCV002124725 RCV005008464

NM_003482.4(KMT2D):c.4021-11C>A

SNV
Germline

Chr12:49048780

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547916

rs_749085179

2 SubmittersRCV002141522 RCV005008465

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

CA6546472

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

CA10392440

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

CA6546551

rs_752712305

3 SubmittersRCV002090559 RCV003130689

NM_003482.4(KMT2D):c.5382G>A (p.Val1794=)

SNV
Germline

Chr12:49043720

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547551

rs_372647860

3 SubmittersRCV002117587 RCV004758866 RCV005008460

NM_003482.4(KMT2D):c.3977G>A (p.Arg1326Gln)

SNV
Germline

Chr12:49049148

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA236615766

rs_535481040

2 SubmittersRCV002103570 RCV005008457

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

SNV
Germline

Chr12:49027891

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA236634470

rs_201597771

3 SubmittersRCV002095789 RCV004531372 RCV005008458

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

CA384747919

rs_1252563449

2 SubmittersRCV002209029 RCV004982889

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

SNV
Germline

Chr12:49031843

Conflicting classifications of pathogenicity

Kabuki syndrome
Kabuki syndrome 1
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA6546116

rs_542331667

3 SubmittersRCV002115772 RCV003447618 RCV004531405

NM_003482.4(KMT2D):c.15771C>T (p.Asp5257=)

SNV
Germline

Chr12:49026195

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA236633537

rs_917933038

3 SubmittersRCV002172844 RCV004538786 RCV005008447

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

CA329050161

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

CA10392392

rs_368984079

3 SubmittersRCV002216044 RCV002243513 RCV003006995

NM_003482.4(KMT2D):c.3312C>T (p.Pro1104=)

SNV
Germline

Chr12:49050276

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6548078

rs_373466645

4 SubmittersRCV002174567 RCV004545229 RCV005008476 RCV005242200

NM_003482.4(KMT2D):c.8190G>A (p.Glu2730=)

SNV
Germline

Chr12:49039474

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA479710903

rs_2120511753

2 SubmittersRCV005008449 RCV002175087

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

CA329046540

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

CA6548334

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

Criteria Provided
Conflicting Classifications

CA384630515

rs_376180339

3 SubmittersRCV002074509 RCV003134389 RCV005008470

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

CA6547967

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6547390

rs_754420100

4 SubmittersRCV002211223 RCV003151391 RCV003753214 RCV005592416

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

SNV
Germline

Chr12:49027043

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

CA6545636

rs_781012274

3 SubmittersRCV002245278 RCV003120848 RCV005008487

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

SNV
Germline

Chr12:49037338

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384733081

rs_2120477465

1 SubmittersRCV002245294

NM_003482.4(KMT2D):c.6058C>T (p.Pro2020Ser)

SNV
Germline

Chr12:49042140

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA236612494

rs_939099741

2 SubmittersRCV002249278 RCV005095819

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

SNV
Germline

Chr12:49026977

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384690940

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

CA384646181

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

CA384695657

rs_1555186428

1 SubmittersRCV002250993

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

SNV
Germline

Chr12:49054753

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA384689459

rs_2120713788

2 SubmittersRCV002251119 RCV005232921

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

SNV
Germline

Chr12:49040046

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547002

rs_533854462

3 SubmittersRCV002255006 RCV003588788 RCV005008493

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

SNV
Unknown

ChrX:45085957

Likely pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

CA412805234

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

CA6545858

rs_767232021

3 SubmittersRCV002266888 RCV003588793 RCV004534021

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

SNV
Germline

Chr12:49022655

Pathogenic

Kabuki syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA384677795

rs_2137706560

3 SubmittersRCV003588794 RCV003101522 RCV002267217

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

CA384729999

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

CA384728311

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

CA412805210

rs_746435548

1 SubmittersRCV002274445

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

SNV
Germline

Chr12:49037401

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA384733528

rs_1291730464

3 SubmittersRCV002275664 RCV003096225 RCV003096226

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

SNV
Germline

Chr12:49049692

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder
Kabuki syndrome 1

Criteria Provided
Conflicting Classifications

CA384652379

rs_1266718915

3 SubmittersRCV003753223 RCV004529116 RCV002275671

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

CA384675504

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 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA236633811

rs_943690439

3 SubmittersRCV002279000 RCV003992623 RCV003774916

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

CA384627441

rs_1164333482

2 SubmittersRCV002280434 RCV003753225

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

SNV
Germline

Chr12:49046426

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384646310

rs_2120606259

1 SubmittersRCV002283856

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

SNV
Germline

Chr12:49032815

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384714315

rs_2498360093

1 SubmittersRCV002285246

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

SNV
Germline

Chr12:49054752

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384689448

rs_2120713766

1 SubmittersRCV002288345

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

SNV
Germline

ChrX:45010985

Likely pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

CA413022121

rs_2521643351

1 SubmittersRCV002290181

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

SNV
Germline

ChrX:45034530

Likely pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

CA2580100962

rs_2522201595

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

CA6546948

rs_754609531

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

Criteria Provided
Conflicting Classifications

CA6548409

rs_377135124

3 SubmittersRCV002461899 RCV003111565 RCV005008590

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

Criteria Provided
Conflicting Classifications

CA6546686

rs_772446794

4 SubmittersRCV002466899 RCV003108119 RCV004529145 RCV005008592

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

SNV
Germline

Chr12:49054307

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA479715403

rs_2120707151

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

CA384746773

rs_1324342513

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

CA384627127

rs_2120553637

1 SubmittersRCV002471448

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

SNV
Germline

ChrX:45063477

Conflicting classifications of pathogenicity

Kabuki syndrome 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA412787857

rs_1340911940

3 SubmittersRCV002470232 RCV005350947

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

SNV
Germline

Chr12:49029417

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384699422

rs_2498339461

1 SubmittersRCV002470570

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

SNV
Germline

Chr12:49054380

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384687159

rs_1233341881

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

CA384707509

rs_1399037623

2 SubmittersRCV002505981 RCV003149036

NM_003482.4(KMT2D):c.7510G>A (p.Gly2504Ser)

SNV
Germline

Chr12:49040260

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547050

rs_376338784

2 SubmittersRCV003071262 RCV005010935

NM_003482.4(KMT2D):c.7516C>T (p.Leu2506Phe)

SNV
Germline

Chr12:49040254

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547048

rs_749670394

3 SubmittersRCV003073928 RCV005010918 RCV005433973

NM_003482.4(KMT2D):c.6634C>G (p.Leu2212Val)

SNV
Germline

Chr12:49041136

Conflicting classifications of pathogenicity

Inborn genetic diseases
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6547210

rs_750666025

2 SubmittersRCV005351087 RCV003071019

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

CA6547245

rs_557789686

3 SubmittersRCV003063021 RCV004536557 RCV004801275

NM_003482.4(KMT2D):c.12337G>A (p.Gly4113Arg)

SNV
Germline

Chr12:49032368

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA236639544

rs_937001182

2 SubmittersRCV003063076 RCV005010930

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

SNV
Germline

Chr12:49050077

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384656521

rs_780443391

1 SubmittersRCV003062514

NM_003482.4(KMT2D):c.10150A>T (p.Thr3384Ser)

SNV
Germline

Chr12:49037206

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6546602

rs_770511500

3 SubmittersRCV003056784 RCV004536550 RCV005010916

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

SNV
Germline

Chr12:49041408

Conflicting classifications of pathogenicity

Kabuki syndrome 1
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6547287

rs_765985953

2 SubmittersRCV004812467 RCV003068541

NM_003482.4(KMT2D):c.8714G>A (p.Arg2905His)

SNV
Germline

Chr12:49038642

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6546805

rs_749240829

2 SubmittersRCV003068548 RCV005010943

NM_001291415.2(KDM6A):c.1674A>G (p.Gln558=)

SNV
Germline

ChrX:45062739

Conflicting classifications of pathogenicity

Kabuki syndrome 2

Criteria Provided
Conflicting Classifications

CA10392393

rs_773682292

2 SubmittersRCV003070131

NM_003482.4(KMT2D):c.1782G>A (p.Pro594=)

SNV
Germline

Chr12:49051901

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA479714413

rs_1488901592

2 SubmittersRCV003077331 RCV005010964

NM_003482.4(KMT2D):c.6853C>G (p.Leu2285Val)

SNV
Germline

Chr12:49040917

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547166

rs_771287738

3 SubmittersRCV003085541 RCV004758905 RCV005010966

NM_003482.4(KMT2D):c.3695C>T (p.Pro1232Leu)

SNV
Germline

Chr12:49049893

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA384655807

rs_1208909878

2 SubmittersRCV003078724 RCV005242303

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

CA236648403

rs_764884530

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

CA6548066

rs_772239870

2 SubmittersRCV003091095 RCV003491231

NM_003482.4(KMT2D):c.15529A>G (p.Met5177Val)

SNV
Germline

Chr12:49026437

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA236633719

rs_1033739107

2 SubmittersRCV003078136 RCV005010979

NM_003482.4(KMT2D):c.3700G>T (p.Gly1234Trp)

SNV
Germline

Chr12:49049888

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6548009

rs_773320492

2 SubmittersRCV002584670 RCV005011010

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

CA384736800

rs_2120484146

2 SubmittersRCV002584706 RCV004985205

NM_003482.4(KMT2D):c.2244G>A (p.Glu748=)

SNV
Germline

Chr12:49051439

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6548307

rs_772953595

2 SubmittersRCV002588303 RCV005011014

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

CA384740377

rs_1453232417

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

CA6545642

rs_773818669

2 SubmittersRCV003093197 RCV004536612

NM_003482.4(KMT2D):c.7412G>A (p.Arg2471Gln)

SNV
Germline

Chr12:49040358

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547070

rs_770491652

3 SubmittersRCV003093056 RCV005353096 RCV005010998

NM_003482.4(KMT2D):c.8735A>T (p.Asp2912Val)

SNV
Germline

Chr12:49038621

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6546803

rs_757759802

2 SubmittersRCV002591611 RCV005011030

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

CA6547778

rs_761155455

2 SubmittersRCV002602864 RCV004725542

NM_003482.4(KMT2D):c.3544T>C (p.Cys1182Arg)

SNV
Germline

Chr12:49050044

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6548032

rs_762154546

2 SubmittersRCV002610885 RCV005011037

NM_003482.4(KMT2D):c.12663G>C (p.Gln4221His)

SNV
Germline

Chr12:49032042

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6546166

rs_769203609

2 SubmittersRCV002596267 RCV005011045

NM_003482.4(KMT2D):c.1040A>G (p.His347Arg)

SNV
Germline

Chr12:49052987

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA236621920

rs_1020065475

2 SubmittersRCV002596298 RCV005011046

NM_003482.4(KMT2D):c.3393G>A (p.Pro1131=)

SNV
Germline

Chr12:49050195

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6548056

rs_552562610

3 SubmittersRCV002636707 RCV004758910 RCV005011052

NM_003482.4(KMT2D):c.9520T>C (p.Ser3174Pro)

SNV
Germline

Chr12:49037836

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384737461

rs_1257879062

2 SubmittersRCV002616737 RCV005011057

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

CA6545731

rs_374825491

2 SubmittersRCV002595867 RCV004538808

NM_003482.4(KMT2D):c.1873C>T (p.Arg625Cys)

SNV
Germline

Chr12:49051810

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384669946

rs_1434021544

2 SubmittersRCV002632506 RCV005011044

NM_003482.4(KMT2D):c.13022C>T (p.Pro4341Leu)

SNV
Germline

Chr12:49031683

Conflicting classifications of pathogenicity

Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA384707911

rs_1942918783

2 SubmittersRCV002611255 RCV004636681

NM_003482.4(KMT2D):c.14653G>A (p.Ala4885Thr)

SNV
Germline

Chr12:49027313

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6545681

rs_756477886

2 SubmittersRCV002623409 RCV005011048

NM_003482.4(KMT2D):c.14503G>A (p.Ala4835Thr)

SNV
Germline

Chr12:49028021

Conflicting classifications of pathogenicity

Kabuki syndrome
KMT2D-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6545727

rs_780957515

3 SubmittersRCV002595709 RCV004529211 RCV003269480

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

CA6546772

rs_762096305

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

CA384660290

rs_2120654180

2 SubmittersRCV002625078 RCV003274308

NM_003482.4(KMT2D):c.781A>G (p.Thr261Ala)

SNV
Germline

Chr12:49053534

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384681006

rs_1391527793

2 SubmittersRCV002629517 RCV005011083

NM_003482.4(KMT2D):c.4956G>A (p.Lys1652=)

SNV
Germline

Chr12:49044751

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547680

rs_755388971

2 SubmittersRCV002644143 RCV005011089

NM_003482.4(KMT2D):c.6209C>T (p.Ala2070Val)

SNV
Germline

Chr12:49041680

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547334

rs_747546549

3 SubmittersRCV002612564 RCV003222460 RCV005011069

NM_003482.4(KMT2D):c.8897G>A (p.Arg2966Gln)

SNV
Germline

Chr12:49038459

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6546776

rs_766773845

3 SubmittersRCV002629469 RCV004758912 RCV005011082

NM_003482.4(KMT2D):c.6845G>A (p.Arg2282Gln)

SNV
Germline

Chr12:49040925

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547168

rs_746386351

2 SubmittersRCV002654642 RCV005011087

NM_003482.4(KMT2D):c.14006C>G (p.Ser4669Ter)

SNV
Germline

Chr12:49029470

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384699843

rs_1942779993

1 SubmittersRCV002510548

NM_001291415.2(KDM6A):c.4243C>T (p.Arg1415Ter)

SNV
Unknown

ChrX:45110160

Likely pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

CA412777227

rs_2046713136

1 SubmittersRCV002510553

NM_003482.4(KMT2D):c.11456G>A (p.Gly3819Asp)

SNV
Germline

Chr12:49033249

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6546313

rs_527356550

2 SubmittersRCV003108524 RCV005011205

NM_003482.4(KMT2D):c.14204G>A (p.Arg4735Gln)

SNV
Germline

Chr12:49029108

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6545806

rs_777490835

2 SubmittersRCV002583408 RCV005008624

NM_003482.4(KMT2D):c.10813C>T (p.Gln3605Ter)

SNV
Germline

Chr12:49033892

Pathogenic

Kabuki syndrome
Kabuki syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA384725940

rs_2120448780

2 SubmittersRCV002617140 RCV005227796

NM_003482.4(KMT2D):c.1174T>C (p.Cys392Arg)

SNV
Germline

Chr12:49052648

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6548551

rs_769828573

2 SubmittersRCV002600611 RCV005008643

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

CA384689291

rs_1189364625

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

CA6547610

rs_370969225

2 SubmittersRCV002609101 RCV002634657

NM_003482.4(KMT2D):c.1712G>A (p.Arg571His)

SNV
Germline

Chr12:49051971

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6548435

rs_759064297

2 SubmittersRCV002609258 RCV005008663

NM_003482.4(KMT2D):c.703C>A (p.Pro235Thr)

SNV
Germline

Chr12:49053612

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6548667

rs_376909620

2 SubmittersRCV002622533 RCV005008671

NM_003482.4(KMT2D):c.9081C>T (p.Thr3027=)

SNV
Germline

Chr12:49038275

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6546746

rs_773937288

2 SubmittersRCV002618824 RCV005008669

NM_003482.4(KMT2D):c.12745C>T (p.Gln4249Ter)

SNV
Germline

Chr12:49031960

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384709505

rs_2498354645

1 SubmittersRCV002662918

NM_003482.4(KMT2D):c.2962G>A (p.Ala988Thr)

SNV
Germline

Chr12:49050626

Conflicting classifications of pathogenicity

Kabuki syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA384660292

rs_2120654180

3 SubmittersRCV002659585 RCV004983080 RCV005416644

NM_003482.4(KMT2D):c.14957G>A (p.Arg4986His)

SNV
Germline

Chr12:49027009

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6545627

rs_777248822

2 SubmittersRCV002643021 RCV005008681

NM_003482.4(KMT2D):c.13100A>G (p.Asp4367Gly)

SNV
Germline

Chr12:49031605

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384707433

rs_1475888359

2 SubmittersRCV002659564 RCV005008690

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

CA384750004

rs_751760156

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

CA6548189

rs_200825022

2 SubmittersRCV002643520 RCV004534162

NM_003482.4(KMT2D):c.10979G>A (p.Gly3660Glu)

SNV
Germline

Chr12:49033726

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6546390

rs_201702616

2 SubmittersRCV002685471 RCV005008687

NM_003482.4(KMT2D):c.9308C>T (p.Ala3103Val)

SNV
Germline

Chr12:49038048

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6546716

rs_755031010

2 SubmittersRCV002690766 RCV005008704

NM_003482.4(KMT2D):c.2332T>C (p.Cys778Arg)

SNV
Germline

Chr12:49051351

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6548283

rs_905939046

2 SubmittersRCV002725767 RCV005008706

NM_003482.4(KMT2D):c.11594A>G (p.Gln3865Arg)

SNV
Germline

Chr12:49033111

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384717286

rs_1461143773

3 SubmittersRCV002700447 RCV005008696 RCV004642007

NM_003482.4(KMT2D):c.1802C>T (p.Pro601Leu)

SNV
Germline

Chr12:49051881

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384670238

rs_1242866061

2 SubmittersRCV002695898 RCV005008705

NM_003482.4(KMT2D):c.8329C>G (p.Pro2777Ala)

SNV
Germline

Chr12:49039259

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA236646057

rs_960069873

2 SubmittersRCV002711020 RCV005008712

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

CA6546360

rs_780573479

2 SubmittersRCV002735786 RCV004529166

NM_003482.4(KMT2D):c.2926C>G (p.Pro976Ala)

SNV
Germline

Chr12:49050662

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384660441

rs_1481084539

2 SubmittersRCV002760604 RCV005008723

NM_003482.4(KMT2D):c.10847T>C (p.Val3616Ala)

SNV
Germline

Chr12:49033858

Conflicting classifications of pathogenicity

not specified
Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6546413

rs_765596348

4 SubmittersRCV003321956 RCV002755329 RCV005351008

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

CA384709235

rs_761270194

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

CA6546696

rs_551794772

2 SubmittersRCV002770298 RCV003134493

NM_003482.4(KMT2D):c.14336G>A (p.Gly4779Glu)

SNV
Germline

Chr12:49028874

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384696069

rs_1263198421

2 SubmittersRCV002756940 RCV005008748

NM_003482.4(KMT2D):c.13441G>T (p.Glu4481Ter)

SNV
Germline

Chr12:49031264

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384704317

rs_778628310

1 SubmittersRCV002815774

NM_003482.4(KMT2D):c.10825C>T (p.Gln3609Ter)

SNV
Germline

Chr12:49033880

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384725789

rs_2498366571

1 SubmittersRCV002861299

NM_003482.4(KMT2D):c.4267C>A (p.Arg1423Ser)

SNV
Germline

Chr12:49046760

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384647540

rs_2498430538

1 SubmittersRCV002858281

NM_003482.4(KMT2D):c.15022G>A (p.Glu5008Lys)

SNV
Germline

Chr12:49026944

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6545616

rs_746748048

2 SubmittersRCV005008767 RCV002875590

NM_003482.4(KMT2D):c.16154C>G (p.Ser5385Ter)

SNV
Germline

Chr12:49022774

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384678830

rs_2137707335

1 SubmittersRCV002852473

NM_003482.4(KMT2D):c.16295G>T (p.Arg5432Leu)

SNV
Germline

Chr12:49022633

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384677598

rs_398123734

1 SubmittersRCV002880427

NM_003482.4(KMT2D):c.16515A>T (p.Gly5505=)

SNV
Germline

Chr12:49022049

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA479520830

rs_1942353373

1 SubmittersRCV002868065

NM_003482.4(KMT2D):c.3241C>A (p.Pro1081Thr)

SNV
Germline

Chr12:49050347

Conflicting classifications of pathogenicity

Inborn genetic diseases
Kabuki syndrome
KMT2D-related disorder

Criteria Provided
Conflicting Classifications

CA6548091

rs_776189229

3 SubmittersRCV002885644 RCV002885643 RCV004529178

NM_003482.4(KMT2D):c.10232-1G>A

SNV
Germline

Chr12:49034936

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384730179

rs_1943142093

1 SubmittersRCV002912620

NM_003482.4(KMT2D):c.7603C>T (p.Arg2535Cys)

SNV
Germline

Chr12:49040167

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547029

rs_780306423

3 SubmittersRCV002913223 RCV005399002 RCV004536441

NM_003482.4(KMT2D):c.12152T>A (p.Ile4051Lys)

SNV
Germline

Chr12:49032553

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6546236

rs_751893107

2 SubmittersRCV002914725 RCV005010791

NM_003482.4(KMT2D):c.52G>T (p.Asp18Tyr)

SNV
Germline

Chr12:49055024

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6548801

rs_749662138

2 SubmittersRCV002923149 RCV005010792

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

CA10392386

rs_375011484

3 SubmittersRCV002947127 RCV004983197

NM_003482.4(KMT2D):c.9346C>T (p.Pro3116Ser)

SNV
Germline

Chr12:49038010

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6546706

rs_765227366

2 SubmittersRCV002937665 RCV005010783

NM_003482.4(KMT2D):c.14016G>C (p.Lys4672Asn)

SNV
Germline

Chr12:49029460

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6545841

rs_761637319

2 SubmittersRCV002938390 RCV005010789

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

CA236641279

rs_984314815

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

CA236612667

rs_200741577

2 SubmittersRCV002929189 RCV004536480

NM_003482.4(KMT2D):c.3938G>A (p.Arg1313Gln)

SNV
Germline

Chr12:49049187

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547941

rs_200306812

3 SubmittersRCV002961913 RCV005010824 RCV004758899

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

CA384732202

rs_1225652188

2 SubmittersRCV002971213 RCV002971212

NM_003482.4(KMT2D):c.7818G>T (p.Gly2606=)

SNV
Germline

Chr12:49039952

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA236647430

rs_370261310

2 SubmittersRCV002954316 RCV005010823

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

CA236643302

rs_769891210

2 SubmittersRCV002982666 RCV004536511

NM_003482.4(KMT2D):c.2194C>A (p.Pro732Thr)

SNV
Germline

Chr12:49051489

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384667721

rs_1176744330

2 SubmittersRCV002979965 RCV005002921

NM_003482.4(KMT2D):c.7515G>A (p.Glu2505=)

SNV
Germline

Chr12:49040255

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547049

rs_755406867

3 SubmittersRCV002996536 RCV004536526 RCV005010862

NM_003482.4(KMT2D):c.2747C>T (p.Pro916Leu)

SNV
Germline

Chr12:49050936

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6548197

rs_765475926

2 SubmittersRCV002988679 RCV005010848

NM_003482.4(KMT2D):c.8396A>G (p.Tyr2799Cys)

SNV
Germline

Chr12:49038960

Conflicting classifications of pathogenicity

Kabuki syndrome
VISS syndrome
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Kabuki syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA384742411

rs_1356426477

4 SubmittersRCV002983101 RCV004813211 RCV005010851 RCV005592560

NM_003482.4(KMT2D):c.14701C>G (p.Leu4901Val)

SNV
Germline

Chr12:49027265

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6545679

rs_781467355

4 SubmittersRCV003005098 RCV003134585 RCV005433958

NM_003482.4(KMT2D):c.7834C>T (p.Pro2612Ser)

SNV
Germline

Chr12:49039936

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384746720

rs_2498394572

2 SubmittersRCV002972380 RCV005010843

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

CA6548036

rs_780443391

2 SubmittersRCV003009098 RCV003883858

NM_003482.4(KMT2D):c.1792C>T (p.Arg598Cys)

SNV
Germline

Chr12:49051891

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6548417

rs_778514296

4 SubmittersRCV003011413 RCV004540499 RCV003134584 RCV005010860

NM_003482.4(KMT2D):c.13764G>C (p.Gln4588His)

SNV
Germline

Chr12:49030676

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA236637830

rs_1044708169

3 SubmittersRCV002976617 RCV003389913 RCV005362952

NM_003482.4(KMT2D):c.9329G>A (p.Arg3110His)

SNV
Germline

Chr12:49038027

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6546708

rs_769315900

2 SubmittersRCV003007378 RCV005010864

NM_001291415.2(KDM6A):c.444G>A (p.Trp148Ter)

SNV
Germline

ChrX:45020610

Pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

CA413022722

rs_2147664601

1 SubmittersRCV003016562

NM_001291415.2(KDM6A):c.1683+1G>T

SNV
Germline

ChrX:45062749

Likely pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

CA412787386

rs_1569533871

1 SubmittersRCV003021499

NM_003482.4(KMT2D):c.16522-2A>G

SNV
Germline

Chr12:49021874

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384675555

rs_2499022427

1 SubmittersRCV003018033

NM_001291415.2(KDM6A):c.1537C>T (p.Gln513Ter)

SNV
Germline

ChrX:45061375

Pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

CA412785011

rs_2147975941

1 SubmittersRCV003013604

NM_003482.4(KMT2D):c.1112+1G>C

SNV
Germline

Chr12:49052914

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384677505

rs_2498462626

1 SubmittersRCV003046512

NM_003482.4(KMT2D):c.3394G>A (p.Gly1132Ser)

SNV
Germline

Chr12:49050194

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384656939

rs_1167191582

2 SubmittersRCV003047827 RCV005010890

NM_001291415.2(KDM6A):c.349C>T (p.Gln117Ter)

SNV
Germline

ChrX:44974680

Pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

CA413021378

rs_2520298620

1 SubmittersRCV003064000

NM_003482.4(KMT2D):c.16339-2A>C

SNV
Germline

Chr12:49022355

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384677250

rs_2499024618

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

CA384657164

rs_541921137

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

CA6548654

rs_201231484

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

CA236612817

rs_368134008

2 SubmittersRCV002722752 RCV003588851

NM_003482.4(KMT2D):c.8843C>T (p.Pro2948Leu)

SNV
Germline

Chr12:49038513

Conflicting classifications of pathogenicity

Inborn genetic diseases
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA236645371

rs_189242647

2 SubmittersRCV002787092 RCV003753250

NM_003482.4(KMT2D):c.4177C>T (p.His1393Tyr)

SNV
Germline

Chr12:49048024

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384649508

rs_1371109456

3 SubmittersRCV002898535 RCV003395652 RCV005011157

NM_003482.4(KMT2D):c.12190G>A (p.Glu4064Lys)

SNV
Germline

Chr12:49032515

Conflicting classifications of pathogenicity

Inborn genetic diseases
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA384712665

rs_1369666889

2 SubmittersRCV002939832 RCV005059367

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

CA236639961

rs_1048666076

2 SubmittersRCV002944986 RCV003777989

NM_003482.4(KMT2D):c.6590C>T (p.Pro2197Leu)

SNV
Germline

Chr12:49041180

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547226

rs_750565501

3 SubmittersRCV002765292 RCV005011199 RCV005099213

NM_003482.4(KMT2D):c.11746C>T (p.Gln3916Ter)

SNV
Germline

Chr12:49032959

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384715899

rs_2120437179

1 SubmittersRCV003142489

NM_003482.4(KMT2D):c.2089C>T (p.Pro697Ser)

SNV
Germline

Chr12:49051594

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6548350

rs_755350858

2 SubmittersRCV003131398 RCV005099305

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

CA384691099

rs_1175086236

2 SubmittersRCV003131399 RCV003588865

NM_003482.4(KMT2D):c.6466C>G (p.Pro2156Ala)

SNV
Germline

Chr12:49041304

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547260

rs_747014712

6 SubmittersRCV003133944 RCV003588866 RCV004246012 RCV004529243 RCV005011237

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

CA384685268

rs_1321544261

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

CA236638613

rs_911322619

2 SubmittersRCV003148101 RCV003778887

NM_003482.4(KMT2D):c.8626C>T (p.Gln2876Ter)

SNV
Unknown

Chr12:49038730

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384741497

rs_2498388518

1 SubmittersRCV003148550

NM_003482.4(KMT2D):c.14251+1G>C

SNV
Germline

Chr12:49029060

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384696881

rs_2120390748

2 SubmittersRCV003149101

NM_003482.4(KMT2D):c.5783-1G>A

SNV
Germline

Chr12:49042646

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384628527

rs_2120558174

2 SubmittersRCV003149102

NM_003482.4(KMT2D):c.6183+3G>T

SNV
Germline

Chr12:49041914

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

CA2580086385

rs_2120551363

1 SubmittersRCV003149103

NM_001291415.2(KDM6A):c.357C>G (p.Tyr119Ter)

SNV
Germline

ChrX:44974688

Pathogenic

Kabuki syndrome 2

No Assertion Criteria Provided

CA413021398

rs_2520298732

1 SubmittersRCV003149106

NM_003482.4(KMT2D):c.349C>T (p.Gln117Ter)

SNV
Germline

Chr12:49054579

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

CA384688222

rs_2120711101

1 SubmittersRCV003149107

NM_003482.4(KMT2D):c.15194G>C (p.Trp5065Ser)

SNV
Germline

Chr12:49026772

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

CA384689252

rs_2120362721

1 SubmittersRCV003149110

NM_003482.4(KMT2D):c.8453G>A (p.Trp2818Ter)

SNV
Germline

Chr12:49038903

Likely pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

CA384742230

rs_2120505590

1 SubmittersRCV003155540

NM_003482.4(KMT2D):c.10198C>T (p.Gln3400Ter)

SNV
Germline

Chr12:49037158

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384731711

rs_2120474870

1 SubmittersRCV003225643

NM_003482.4(KMT2D):c.10615C>T (p.Arg3539Trp)

SNV
Germline

Chr12:49034192

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384727933

rs_1943099538

1 SubmittersRCV003225689

NM_003482.4(KMT2D):c.11119C>T (p.Arg3707Ter)

SNV
Germline

Chr12:49033586

Pathogenic

Kabuki syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA384723527

rs_1565779294

2 SubmittersRCV003225705 RCV005402019

NM_003482.4(KMT2D):c.8077C>T (p.Gln2693Ter)

SNV
Unknown

Chr12:49039587

Pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

CA384744341

rs_2498392407

1 SubmittersRCV003228234

NM_003482.4(KMT2D):c.5189-2A>G

SNV
Germline

Chr12:49044000

Pathogenic/Likely pathogenic

Condition: not provided
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA384635641

rs_1193076988

2 SubmittersRCV003228383 RCV005102435

NM_001291415.2(KDM6A):c.816T>G (p.Tyr272Ter)

SNV
Somatic

ChrX:45053896

Pathogenic

Kabuki syndrome 2

No Assertion Criteria Provided

CA412779614

rs_2522671934

1 SubmittersRCV003233019

NM_003482.4(KMT2D):c.50-2A>G

SNV
Germline

Chr12:49055028

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384691069

rs_2498473279

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

CA384657588

rs_1323197030

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

CA236621186

rs_887518261

2 SubmittersRCV003309459 RCV003777089

NM_003482.4(KMT2D):c.14371G>A (p.Ala4791Thr)

SNV
Germline

Chr12:49028839

Conflicting classifications of pathogenicity

Inborn genetic diseases
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA384695760

rs_1237654242

2 SubmittersRCV003303903 RCV005102634

NM_003482.4(KMT2D):c.10021C>T (p.Gln3341Ter)

SNV
Unknown

Chr12:49037335

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384733060

rs_2120477437

1 SubmittersRCV003314364

NM_003482.4(KMT2D):c.955-1G>A

SNV
Unknown

Chr12:49053073

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384679162

rs_2120693175

1 SubmittersRCV003315107

NM_003482.4(KMT2D):c.5387G>A (p.Arg1796Gln)

SNV
Germline

Chr12:49043715

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384633369

rs_1223905716

4 SubmittersRCV004758932 RCV005012868 RCV005102878 RCV003318249

NM_003482.4(KMT2D):c.13316C>T (p.Pro4439Leu)

SNV
Germline

Chr12:49031389

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384705038

rs_1241744534

4 SubmittersRCV005012869 RCV005061266 RCV003318251 RCV004731524

NM_003482.4(KMT2D):c.15460C>T (p.Arg5154Trp)

SNV
Germline

Chr12:49026506

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6545563

rs_768551828

3 SubmittersRCV003327355 RCV005227995

NM_003482.4(KMT2D):c.4413C>G (p.Cys1471Trp)

SNV
Germline

Chr12:49046614

Pathogenic

Condition: not provided
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA384646467

rs_747889445

2 SubmittersRCV003332793 RCV005103955

NM_003482.4(KMT2D):c.11138C>G (p.Ser3713Ter)

SNV
Unknown

Chr12:49033567

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384723347

rs_2498364996

1 SubmittersRCV003333381

NM_003482.4(KMT2D):c.3220G>T (p.Glu1074Ter)

SNV
Germline

Chr12:49050368

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384658554

rs_2120649411

1 SubmittersRCV003338218

NM_003482.4(KMT2D):c.3994A>G (p.Thr1332Ala)

SNV
Germline

Chr12:49049131

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547931

rs_766033802

3 SubmittersRCV003342394 RCV003588898 RCV005012889

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

CA6546705

rs_747466300

2 SubmittersRCV003354139 RCV003753272

NM_003482.4(KMT2D):c.8720A>G (p.Tyr2907Cys)

SNV
Germline

Chr12:49038636

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384741043

rs_1435561684

2 SubmittersRCV003378950 RCV005012907

NM_003482.4(KMT2D):c.4419-1G>C

SNV
Unknown

Chr12:49046425

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384646275

rs_2120606244

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

CA6547709

rs_749039924

2 SubmittersRCV003753277 RCV004529703

NM_003482.4(KMT2D):c.8042G>A (p.Arg2681Gln)

SNV
Germline

Chr12:49039728

Conflicting classifications of pathogenicity

KMT2D-related disorder
Inborn genetic diseases
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6546946

rs_779506886

3 SubmittersRCV004529709 RCV004985342 RCV005104307

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

CA479712703

rs_2120559859

2 SubmittersRCV003753286 RCV004534286

NM_003482.4(KMT2D):c.8765G>A (p.Arg2922Gln)

SNV
Germline

Chr12:49038591

Conflicting classifications of pathogenicity

KMT2D-related disorder
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6546797

rs_757791539

2 SubmittersRCV004534328 RCV005099963

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

CA384676550

rs_1316703353

2 SubmittersRCV003588902 RCV004529683

NM_003482.4(KMT2D):c.15540G>A (p.Val5180=)

SNV
Germline

Chr12:49026426

Conflicting classifications of pathogenicity

KMT2D-related disorder
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA479706562

rs_149393179

2 SubmittersRCV004534235 RCV003753285

NM_003482.4(KMT2D):c.5362G>A (p.Ala1788Thr)

SNV
Germline

Chr12:49043740

Conflicting classifications of pathogenicity

KMT2D-related disorder
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6547555

rs_755651886

2 SubmittersRCV004529759 RCV003753279

NM_003482.4(KMT2D):c.1091A>G (p.Gln364Arg)

SNV
Germline

Chr12:49052936

Conflicting classifications of pathogenicity

KMT2D-related disorder
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6548581

rs_372119165

2 SubmittersRCV004529762 RCV003778202

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

CA6545517

rs_778198600

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

CA384712608

rs_774658767

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

CA236644434

rs_919478619

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

CA384741774

rs_1285381948

2 SubmittersRCV003391785 RCV003588913

NM_003482.4(KMT2D):c.3875G>A (p.Arg1292His)

SNV
Germline

Chr12:49049713

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA6547969

rs_752389284

2 SubmittersRCV003391791 RCV005100018

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

CA6546188

rs_770484137

2 SubmittersRCV003443829 RCV003778469

NM_003482.4(KMT2D):c.11497C>T (p.Arg3833Trp)

SNV
Germline

Chr12:49033208

Conflicting classifications of pathogenicity

Condition: not provided
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA236640026

rs_1002386392

2 SubmittersRCV003456806 RCV005062956

NM_003482.4(KMT2D):c.3650G>A (p.Ser1217Asn)

SNV
Germline

Chr12:49049938

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6548013

rs_758588319

3 SubmittersRCV003456807 RCV005399401 RCV005100116

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

CA384703968

rs_2498349642

2 SubmittersRCV003989848

NM_003482.4(KMT2D):c.9010G>C (p.Glu3004Gln)

SNV
Germline

Chr12:49038346

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_2120494972

1 SubmittersRCV004595691

NM_003482.4(KMT2D):c.13622A>G (p.Lys4541Arg)

SNV
Germline

Chr12:49030942

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_2120411901

1 SubmittersRCV004595696

NM_003482.4(KMT2D):c.16238C>T (p.Ala5413Val)

SNV
Unknown

Chr12:49022690

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_2137706790

1 SubmittersRCV004595699

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

SNV
Germline

Chr12:49041920

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_186577948

1 SubmittersRCV004595707

NM_003482.4(KMT2D):c.13570C>T (p.Arg4524Trp)

SNV
Germline

Chr12:49030994

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6545974

rs_778634045

4 SubmittersRCV004783070 RCV004536832 RCV005012999 RCV003589771

NM_001291415.2(KDM6A):c.334+1G>A

SNV
Germline

ChrX:44961393

Likely pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

CA413021212

rs_2147170755

1 SubmittersRCV003528858

NM_003482.4(KMT2D):c.510+2T>C

SNV
Germline

Chr12:49054305

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384686356

rs_2120707119

1 SubmittersRCV003589862

NM_003482.4(KMT2D):c.8498T>C (p.Met2833Thr)

SNV
Germline

Chr12:49038858

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384742062

rs_1213240312

3 SubmittersRCV003590608 RCV004369066 RCV005013005

NM_003482.4(KMT2D):c.787C>T (p.Arg263Cys)

SNV
Germline

Chr12:49053528

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6548657

rs_771365929

2 SubmittersRCV003590657 RCV005013006

NM_003482.4(KMT2D):c.2846C>T (p.Pro949Leu)

SNV
Germline

Chr12:49050742

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6548162

rs_550306157

2 SubmittersRCV003590875 RCV005013012

NM_003482.4(KMT2D):c.6682A>G (p.Thr2228Ala)

SNV
Germline

Chr12:49041088

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547196

rs_750815710

2 SubmittersRCV003588294 RCV005013020

NM_003482.4(KMT2D):c.9930A>G (p.Gln3310=)

SNV
Germline

Chr12:49037426

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6546636

rs_750004710

3 SubmittersRCV004758940 RCV003588307 RCV005013021

NM_003482.4(KMT2D):c.8310C>A (p.Asp2770Glu)

SNV
Germline

Chr12:49039278

Conflicting classifications of pathogenicity

Inborn genetic diseases
Kabuki syndrome

Criteria Provided
Conflicting Classifications

CA384742786

rs_776565863

2 SubmittersRCV004985414 RCV003588289

NM_003482.4(KMT2D):c.9259C>G (p.Arg3087Gly)

SNV
Germline

Chr12:49038097

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6546727

rs_538335897

3 SubmittersRCV004758941 RCV003588397 RCV005013025

NM_003482.4(KMT2D):c.9214C>A (p.Leu3072Met)

SNV
Germline

Chr12:49038142

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6546733

rs_760565311

2 SubmittersRCV003589111 RCV005013042

NM_001291415.2(KDM6A):c.2079+1G>A

SNV
Germline

ChrX:45063818

Likely pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

CA412791148

rs_2044409446

1 SubmittersRCV003527644

NM_003482.4(KMT2D):c.11266C>T (p.Gln3756Ter)

SNV
Germline

Chr12:49033439

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384720479

rs_2498364326

1 SubmittersRCV003589374

NM_003482.4(KMT2D):c.14273A>G (p.Tyr4758Cys)

SNV
Germline

Chr12:49028937

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6545782

rs_373070195

2 SubmittersRCV003590247 RCV005013054

NM_003482.4(KMT2D):c.7730G>A (p.Ser2577Asn)

SNV
Germline

Chr12:49040040

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384747015

rs_1286278528

2 SubmittersRCV003590345 RCV005013057

NM_001291415.2(KDM6A):c.1577T>G (p.Leu526Ter)

SNV
Germline

ChrX:45061415

Pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

CA412785283

rs_2522811516

1 SubmittersRCV003527865

NM_003482.4(KMT2D):c.4290T>G (p.Cys1430Trp)

SNV
Germline

Chr12:49046737

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384647417

rs_2120612017

1 SubmittersRCV003590275

NM_003482.4(KMT2D):c.1193G>A (p.Gly398Asp)

SNV
Germline

Chr12:49052629

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6548550

rs_374523376

2 SubmittersRCV003591069 RCV005013061

NM_003482.4(KMT2D):c.16499G>A (p.Arg5500Gln)

SNV
Germline

Chr12:49022065

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6545363

rs_758567660

2 SubmittersRCV003753312 RCV005013065

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

SNV
Germline

ChrX:45079140

Conflicting classifications of pathogenicity

Kabuki syndrome 2

Criteria Provided
Conflicting Classifications

CA2579591549

rs_2148117604

2 SubmittersRCV003643158

NM_003482.4(KMT2D):c.16052+2T>G

SNV
Germline

Chr12:49024576

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384681018

rs_2499030412

1 SubmittersRCV003754166

NM_003482.4(KMT2D):c.11866C>T (p.Gln3956Ter)

SNV
Germline

Chr12:49032839

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384714573

rs_2120435220

1 SubmittersRCV003754125

NM_001291415.2(KDM6A):c.3301-3T>G

SNV
Germline

ChrX:45082573

Pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

CA2739273467

rs_2045462398

1 SubmittersRCV003643864

NM_003482.4(KMT2D):c.15185G>C (p.Cys5062Ser)

SNV
Germline

Chr12:49026781

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384689318

rs_1942615152

1 SubmittersRCV003754576

NM_003482.4(KMT2D):c.5722G>A (p.Gly1908Ser)

SNV
Germline

Chr12:49042801

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547463

rs_766962462

2 SubmittersRCV003754705 RCV005013100

NM_003482.4(KMT2D):c.14302A>T (p.Lys4768Ter)

SNV
Germline

Chr12:49028908

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384696341

rs_2120387696

1 SubmittersRCV003754718

NM_003482.4(KMT2D):c.8046+20C>G

SNV
Germline

Chr12:49039704

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2726057080

rs_763239475

2 SubmittersRCV003752598 RCV005013106

NM_003482.4(KMT2D):c.2798-1G>A

SNV
Germline

Chr12:49050791

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384661384

rs_2120657018

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

CA384746035

rs_1226177022

2 SubmittersRCV003752866 RCV004373931

NM_003482.4(KMT2D):c.1295C>T (p.Ala432Val)

SNV
Germline

Chr12:49052388

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6548517

rs_375363526

4 SubmittersRCV005392668 RCV003752783 RCV004763753 RCV004758945

NM_003482.4(KMT2D):c.7324C>T (p.Pro2442Ser)

SNV
Germline

Chr12:49040446

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6547090

rs_775065016

2 SubmittersRCV003752784 RCV005013118

NM_003482.4(KMT2D):c.9910C>G (p.Pro3304Ala)

SNV
Germline

Chr12:49037446

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384733829

rs_1438139434

2 SubmittersRCV003752947 RCV005013128

NM_003482.4(KMT2D):c.15659G>A (p.Arg5220His)

SNV
Germline

Chr12:49026307

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6545522

rs_746471452

2 SubmittersRCV003752913 RCV005013123

NM_003482.4(KMT2D):c.6838G>A (p.Glu2280Lys)

SNV
Germline

Chr12:49040932

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384749506

rs_1432055610

2 SubmittersRCV005013127 RCV003752945

NM_003482.4(KMT2D):c.14444A>G (p.Tyr4815Cys)

SNV
Germline

Chr12:49028080

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6545741

rs_778135894

2 SubmittersRCV003753019 RCV005013138

NM_003482.4(KMT2D):c.8420C>T (p.Ser2807Phe)

SNV
Germline

Chr12:49038936

Conflicting classifications of pathogenicity

Kabuki syndrome
not specified

Criteria Provided
Conflicting Classifications

CA384742342

rs_1410236197

2 SubmittersRCV003752897 RCV005438185

NM_003482.4(KMT2D):c.591C>T (p.Cys197=)

SNV
Germline

Chr12:49054060

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6548696

rs_754603677

2 SubmittersRCV005013129 RCV003752952

NM_003482.4(KMT2D):c.12463C>A (p.Pro4155Thr)

SNV
Germline

Chr12:49032242

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6546207

rs_200413503

2 SubmittersRCV003753045 RCV003739559

NM_003482.4(KMT2D):c.9807G>T (p.Gln3269His)

SNV
Germline

Chr12:49037549

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA236643720

rs_553943831

2 SubmittersRCV003753626 RCV005013155

NM_003482.4(KMT2D):c.15005G>A (p.Arg5002Gln)

SNV
Germline

Chr12:49026961

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6545619

rs_745842900

2 SubmittersRCV003753058 RCV005013142

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

CA384740046

rs_1432465908

2 SubmittersRCV003753602 RCV004780635

NM_003482.4(KMT2D):c.1076G>C (p.Arg359Pro)

SNV
Germline

Chr12:49052951

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384677951

rs_779668384

2 SubmittersRCV003753713 RCV005013160

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

CA6547841

rs_773072573

2 SubmittersRCV003753780 RCV004690475

NM_003482.4(KMT2D):c.9305C>T (p.Pro3102Leu)

SNV
Germline

Chr12:49038051

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA236644806

rs_970061739

2 SubmittersRCV003753807 RCV005013174

NM_003482.4(KMT2D):c.12999G>C (p.Glu4333Asp)

SNV
Germline

Chr12:49031706

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6546090

rs_767696694

2 SubmittersRCV003753738 RCV005013165

NM_003482.4(KMT2D):c.15922-1G>A

SNV
Germline

Chr12:49024709

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384682296

rs_2137710783

1 SubmittersRCV003814573

NM_003482.4(KMT2D):c.14300G>A (p.Gly4767Glu)

SNV
Germline

Chr12:49028910

Conflicting classifications of pathogenicity

Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA236635195

rs_1043416843

2 SubmittersRCV003827926 RCV005592803

NM_003482.4(KMT2D):c.8557C>T (p.Pro2853Ser)

SNV
Germline

Chr12:49038799

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384741832

rs_1193050076

2 SubmittersRCV003826281 RCV005013219

NM_003482.4(KMT2D):c.7030G>A (p.Gly2344Ser)

SNV
Germline

Chr12:49040740

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384749043

rs_1343563508

2 SubmittersRCV003839610 RCV005013233

NM_003482.4(KMT2D):c.120G>C (p.Glu40Asp)

SNV
Germline

Chr12:49054956

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384690353

rs_1339776566

2 SubmittersRCV003843919 RCV005013239

NM_003482.4(KMT2D):c.14237G>A (p.Arg4746Gln)

SNV
Germline

Chr12:49029075

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384696967

rs_1431836046

2 SubmittersRCV003849504 RCV005013241

NM_003482.4(KMT2D):c.2341G>A (p.Ala781Thr)

SNV
Germline

Chr12:49051342

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6548279

rs_565042425

3 SubmittersRCV003868877 RCV005013258 RCV005592826

NM_003482.4(KMT2D):c.232G>A (p.Gly78Arg)

SNV
Germline

Chr12:49054696

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA236624062

rs_941339684

2 SubmittersRCV003859161 RCV005013247

NM_003482.4(KMT2D):c.13461C>G (p.Ile4487Met)

SNV
Germline

Chr12:49031244

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6546019

rs_748431296

3 SubmittersRCV003857437 RCV004758951 RCV005013250

NM_003482.4(KMT2D):c.4963+1G>T

SNV
Germline

Chr12:49044743

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

CA384639175

rs_1565804175

1 SubmittersRCV003860744

NM_003482.4(KMT2D):c.16417A>G (p.Ile5473Val)

SNV
Germline

Chr12:49022147

Conflicting classifications of pathogenicity

Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA236629929

rs_759195065

2 SubmittersRCV003867123 RCV005592828

NM_003482.4(KMT2D):c.10786C>T (p.Arg3596Trp)

SNV
Germline

Chr12:49033919

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA384726193

rs_1481521421

2 SubmittersRCV003872612 RCV005013273

NM_003482.4(KMT2D):c.3728G>A (p.Gly1243Glu)

SNV
Germline

Chr12:49049860

Conflicting classifications of pathogenicity

Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA384655518

rs_1361420677

2 SubmittersRCV003871786 RCV005363304

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

CA2726160246

rs_2120455428

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

CA384680510

rs_2120696377

2 SubmittersRCV003890768 RCV004731582

NM_003482.4(KMT2D):c.11806C>T (p.Gln3936Ter)

SNV
Unknown

Chr12:49032899

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384715193

rs_2498360855

1 SubmittersRCV003985165

NM_003482.4(KMT2D):c.11674C>T (p.Gln3892Ter)

SNV
Germline

Chr12:49033031

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384716721

rs_2120437987

1 SubmittersRCV003990347

NM_003482.4(KMT2D):c.9934C>T (p.Gln3312Ter)

SNV
Germline

Chr12:49037422

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384733655

rs_1307868506

1 SubmittersRCV004006252

NM_003482.4(KMT2D):c.12174G>A (p.Met4058Ile)

SNV
Germline

Chr12:49032531

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA236639670

rs_962509441

3 SubmittersRCV005104506 RCV004409838 RCV005006387

NM_003482.4(KMT2D):c.5107C>T (p.Gln1703Ter)

SNV
Germline

Chr12:49044281

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

CA384636892

rs_2120580820

1 SubmittersRCV004515760

NM_003482.4(KMT2D):c.7610C>T (p.Thr2537Ile)

SNV
Germline

Chr12:49040160

Conflicting classifications of pathogenicity

Kabuki syndrome
Kabuki syndrome 1

Criteria Provided
Conflicting Classifications

rs_371489510

2 SubmittersRCV005101935 RCV004577072

NM_003482.4(KMT2D):c.4742-1G>A

SNV
Germline

Chr12:49044966

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

rs_2120590311

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.4358A>G (p.His1453Arg)

SNV
Germline

Chr12:49046669

Pathogenic/Likely pathogenic

Condition: not provided
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004729282 RCV005103606

NM_003482.4(KMT2D):c.12986A>G (p.Gln4329Arg)

SNV
Germline

Chr12:49031719

Conflicting classifications of pathogenicity

Kabuki syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005104972 RCV004775692

NM_003482.4(KMT2D):c.16019G>T (p.Arg5340Leu)

SNV
Germline

Chr12:49024611

Pathogenic

Condition: not provided
Kabuki syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004772182 RCV005104974

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

NM_001291415.2(KDM6A):c.3416A>G (p.Asn1139Ser)

SNV
Germline

ChrX:45082765

Conflicting classifications of pathogenicity

Inborn genetic diseases
Kabuki syndrome 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004983813 RCV005061789

NM_003482.4(KMT2D):c.11257A>G (p.Ile3753Val)

SNV
Germline

Chr12:49033448

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005009166 RCV005112550

NM_003482.4(KMT2D):c.5205G>C (p.Leu1735=)

SNV
Germline

Chr12:49043982

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005009262 RCV005112554

NM_003482.4(KMT2D):c.4694-1G>A

SNV
Germline

Chr12:49045968

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005009272

NM_003482.4(KMT2D):c.3300C>G (p.Asp1100Glu)

SNV
Germline

Chr12:49050288

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005011261 RCV005112556

NM_003482.4(KMT2D):c.2740G>A (p.Glu914Lys)

SNV
Germline

Chr12:49050943

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005011274 RCV005061849

NM_003482.4(KMT2D):c.15358C>T (p.Arg5120Cys)

SNV
Germline

Chr12:49026608

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005009110 RCV005112544

NM_003482.4(KMT2D):c.13364G>T (p.Arg4455Leu)

SNV
Germline

Chr12:49031341

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005009134 RCV005061845

NM_003482.4(KMT2D):c.12222A>G (p.Gln4074=)

SNV
Germline

Chr12:49032483

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005009147 RCV005061846

NM_001291415.2(KDM6A):c.1831C>T (p.Arg611Cys)

SNV
Germline

ChrX:45063569

Conflicting classifications of pathogenicity

Kabuki syndrome 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005080224 RCV005358205

NM_003482.4(KMT2D):c.5083+1G>A

SNV
Germline

Chr12:49044402

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005078682

NM_003482.4(KMT2D):c.6752C>A (p.Ser2251Ter)

SNV
Germline

Chr12:49041018

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005122892

NM_003482.4(KMT2D):c.4677C>G (p.Tyr1559Ter)

SNV
Germline

Chr12:49046081

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005122434

NM_001291415.2(KDM6A):c.652C>T (p.Gln218Ter)

SNV
Germline

ChrX:45037687

Pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV005111285

NM_003482.4(KMT2D):c.11701C>T (p.Gln3901Ter)

SNV
Germline

Chr12:49033004

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005119947

NM_003482.4(KMT2D):c.8046+2T>G

SNV
Germline

Chr12:49039722

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005130612

NM_003482.4(KMT2D):c.3214G>T (p.Glu1072Ter)

SNV
Germline

Chr12:49050374

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005117051

NM_003482.4(KMT2D):c.4895C>A (p.Ser1632Ter)

SNV
Germline

Chr12:49044812

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005133903

NM_003482.4(KMT2D):c.10417C>G (p.His3473Asp)

SNV
Germline

Chr12:49034605

Conflicting classifications of pathogenicity

Kabuki syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005176092 RCV005594981

NM_003482.4(KMT2D):c.4132-2A>G

SNV
Germline

Chr12:49048071

Pathogenic

Kabuki syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005179264 RCV005250401

NM_003482.4(KMT2D):c.9820C>T (p.Gln3274Ter)

SNV
Germline

Chr12:49037536

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005202989

NM_003482.4(KMT2D):c.5832C>A (p.Tyr1944Ter)

SNV
Germline

Chr12:49042596

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005202990

NM_003482.4(KMT2D):c.2797+1G>C

SNV
Germline

Chr12:49050885

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005202992

NM_003482.4(KMT2D):c.10495C>T (p.Gln3499Ter)

SNV
Germline

Chr12:49034422

Pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005195798

NM_003482.4(KMT2D):c.11728C>T (p.Gln3910Ter)

SNV
Germline

Chr12:49032977

Pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005229659

NM_001291415.2(KDM6A):c.4161+1G>T

SNV
Germline

ChrX:45107537

Pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV005233599

NM_003482.4(KMT2D):c.2188G>T (p.Glu730Ter)

SNV
Germline

Chr12:49051495

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005253455

NM_001291415.2(KDM6A):c.1570C>T (p.Gln524Ter)

SNV
Germline

ChrX:45061408

Likely pathogenic

Kabuki syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV005253511

NM_003482.4(KMT2D):c.15089G>T (p.Arg5030Leu)

SNV
Germline

Chr12:49026877

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005412230

NM_003482.4(KMT2D):c.3067C>T (p.Gln1023Ter)

SNV
Germline

Chr12:49050521

Likely pathogenic

Kabuki syndrome 1

No Assertion Criteria Provided

1 SubmittersRCV005414413

NM_003482.4(KMT2D):c.10465C>T (p.Gln3489Ter)

SNV
Germline

Chr12:49034452

Likely pathogenic

Kabuki syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005623006

NM_003482.4(KMT2D):c.8230-2A>G

SNV
Germline

Chr12:49039360

Likely pathogenic

Kabuki syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005624241