Total 1540 pathogenic variants reported for Kabuki syndrome 
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 SubmittersRCV001043636RCV000723481RCV000007972

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 SubmittersRCV000007974RCV001265824RCV003588558RCV003147277

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 SubmittersRCV000007975RCV000153405RCV003588559

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 SubmittersRCV000033120RCV002513317RCV004719670

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 SubmittersRCV000243755RCV000723490RCV002055148

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 SubmittersRCV000080107RCV001520140

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 SubmittersRCV000177989RCV001854411

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 SubmittersRCV000080110RCV000763853RCV001854412RCV004537340

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 SubmittersRCV000177985RCV000790792

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 SubmittersRCV000080116RCV000330812RCV001818244RCV004542763

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 SubmittersRCV000080118RCV000723524RCV003588574RCV005003457

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 SubmittersRCV000080122RCV002514408

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 SubmittersRCV000080123RCV000347513RCV004537342

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 SubmittersRCV000080129RCV003753085

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 SubmittersRCV000080134RCV001344020RCV004758637

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 SubmittersRCV000146172RCV000688592RCV002243708

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 SubmittersRCV000080143RCV000172955RCV000638430RCV002514409

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 SubmittersRCV000080146RCV002055150

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 SubmittersRCV000178659RCV000824832RCV001854414

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 SubmittersRCV000080154RCV000659832RCV005250015

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 SubmittersRCV000080157RCV000304834RCV004537343

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 SubmittersRCV000080158RCV002515768

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 SubmittersRCV000339875RCV000521303RCV000723520RCV004542764

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 SubmittersRCV000080161RCV001088525RCV004542765

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 SubmittersRCV000080163RCV002055151

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 SubmittersRCV000080167RCV002055152RCV004537344

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 SubmittersRCV000080168RCV002515769

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 SubmittersRCV000121380RCV000365620RCV000723541RCV002055153RCV003224138RCV004537346RCV004019552

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 SubmittersRCV000080178RCV002055154

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 SubmittersRCV000080183RCV000539363

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 SubmittersRCV000080184RCV000723476RCV001517882RCV004537348

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 SubmittersRCV000080188RCV004542768RCV002055155

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 SubmittersRCV000080190RCV000691833RCV002514410RCV004537349

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 SubmittersRCV000080197RCV001494744RCV004542769RCV003150943

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 SubmittersRCV000263883RCV000723517RCV004542770

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 SubmittersRCV000712309RCV001088718RCV004537350

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 SubmittersRCV000080204RCV002055156

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 SubmittersRCV000080205RCV000408005RCV000659741RCV000858851

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 SubmittersRCV000146228RCV000723594RCV001084575RCV004537351

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 SubmittersRCV000080212RCV002055157

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 SubmittersRCV000080215RCV002055158

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 SubmittersRCV000080222RCV001399288RCV004537353

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 SubmittersRCV000080223RCV000264206RCV000659769RCV001529421

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 SubmittersRCV000121374RCV000731418RCV001484196RCV004530006

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 SubmittersRCV000121381RCV001521913RCV001594848RCV000988841RCV004530008

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 SubmittersRCV000121385RCV002055346RCV004528828

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 SubmittersRCV000121386RCV001838982RCV001854636

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 SubmittersRCV000121389RCV003133136RCV003753089

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 SubmittersRCV000121390RCV002055348RCV004528829

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 SubmittersRCV000121394RCV000659688RCV003588576

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 SubmittersRCV000121396RCV002055349RCV001781462RCV004530010RCV004639140RCV005008027

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 SubmittersRCV000121403RCV000763857RCV000767217RCV001854641

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 SubmittersRCV000121406RCV002515875RCV000440700RCV004528831

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 SubmittersRCV000121407RCV000659757RCV000945876RCV001657764RCV003224159

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 SubmittersRCV000121412RCV001289094RCV001498880

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 SubmittersRCV000121417RCV000224122RCV002515876RCV001087749RCV004530011

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 SubmittersRCV000121419RCV000726082RCV001854643

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 SubmittersRCV000121421RCV000726604RCV001501324RCV004584608

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 SubmittersRCV000121422RCV000146150RCV000377054RCV000513704

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 SubmittersRCV000121425RCV001498479RCV001818292

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 SubmittersRCV000121434RCV001854646RCV004530012RCV005008030

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 SubmittersRCV000121438RCV000659812RCV000872102RCV001514713

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 SubmittersRCV000121442RCV000146178RCV000285985RCV000514629

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 SubmittersRCV000121443RCV000659829RCV000865112RCV001705895RCV002515877RCV004542884

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 SubmittersRCV000121444RCV001496616

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 SubmittersRCV000146183RCV003753092

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 SubmittersRCV000146180RCV001849983

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 SubmittersRCV004668806RCV000146179

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 SubmittersRCV000146174RCV000790679

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 SubmittersRCV000146173RCV001849982RCV004758648

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 SubmittersRCV000146170RCV000549081RCV000724642

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 SubmittersRCV000146168RCV000622817RCV003753091RCV005229974

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 SubmittersRCV000146159RCV000624920RCV000707588RCV001548390

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 SubmittersRCV000146158RCV002055894RCV004532653

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 SubmittersRCV000146157RCV000951954RCV001707534RCV004544340

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 SubmittersRCV004719714RCV000146153

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 SubmittersRCV000146151RCV000177997RCV002055893

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 SubmittersRCV000146149RCV002055892RCV004544339RCV002225451

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 SubmittersRCV000146148RCV001857511RCV005008051

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 SubmittersRCV000146240RCV004821984RCV001857516

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 SubmittersRCV000146236RCV004589639

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 SubmittersRCV000146231RCV001501756RCV000516606RCV005008054RCV001657838

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 SubmittersRCV000146229RCV001857515

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 SubmittersRCV000146227RCV001338541RCV004691765RCV005008053

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 SubmittersRCV000146226RCV000153415RCV000343763RCV001711587

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 SubmittersRCV000177545RCV000289783RCV000659740RCV001705946RCV004984680

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 SubmittersRCV000146223RCV001857514RCV004758649RCV005008052

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 SubmittersRCV000146214RCV000276560RCV001857513RCV004730884

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 SubmittersRCV000146213RCV004019769

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 SubmittersRCV000146208RCV001449194RCV004532656

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 SubmittersRCV000146200RCV000724644

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 SubmittersRCV000146196RCV000659703RCV001709495RCV001404137RCV003224166

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 SubmittersRCV000146193RCV000725951RCV002055897RCV004544341

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 SubmittersRCV000146127RCV000176888

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 SubmittersRCV000153414RCV000763855RCV002056034RCV004758655

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 SubmittersRCV000153407RCV000178657RCV003588580

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 SubmittersRCV000174080RCV000790774RCV001850095

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 SubmittersRCV000177775RCV001045940RCV001254175

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 SubmittersRCV000153423RCV001405909RCV004544397

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 SubmittersRCV000153409RCV004544394RCV003753096

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 SubmittersRCV000153411RCV005008059RCV005089743

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 SubmittersRCV000153416RCV001078593RCV004532726

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 SubmittersRCV000153418RCV002056035

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 SubmittersRCV000153422RCV002514956RCV004544396

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 SubmittersRCV000172947RCV004719722

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 SubmittersRCV000172948RCV001850286

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 SubmittersRCV000171213RCV002293240

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 SubmittersRCV000173778RCV002492730RCV002516599

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 SubmittersRCV000174077RCV003224188RCV001316081RCV004758660

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 SubmittersRCV000175174RCV001852141

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 SubmittersRCV000176652RCV001201615

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 SubmittersRCV000177462RCV002054091RCV004539651

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 SubmittersRCV000177539RCV001078907RCV001818429RCV005361071RCV003224193RCV004537433

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 SubmittersRCV000177540RCV001362360

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 SubmittersRCV000177541RCV002516739

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 SubmittersRCV000177542RCV003588589RCV004984721

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 SubmittersRCV000177543RCV001433557RCV004537434

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 SubmittersRCV000177546RCV000358195RCV000659750RCV004539652RCV005589782

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 SubmittersRCV000177547RCV001522735RCV000659746RCV001618333RCV004537435

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 SubmittersRCV000177549RCV002517716RCV005603606

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 SubmittersRCV000177773RCV002516752RCV005417994

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 SubmittersRCV000177774RCV001852199

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 SubmittersRCV000177846RCV000338854RCV000659777RCV001711466

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 SubmittersRCV000178330RCV002517728

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 SubmittersRCV000178430RCV002054116RCV004528949

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 SubmittersRCV000178651RCV000623497RCV001852217

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 SubmittersRCV000178654RCV000702652

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 SubmittersRCV000179857RCV002516802RCV004639164

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 SubmittersRCV000724299RCV001442610RCV001818446RCV004537513

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 SubmittersRCV000194362RCV000484393RCV001382673RCV001266906

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 SubmittersRCV000193203RCV001852558RCV003389759

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 SubmittersRCV000194801RCV003753108

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 SubmittersRCV000194184RCV000697204RCV004758667RCV002517944

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 SubmittersRCV000193123RCV001444865RCV004530128RCV001576341

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 SubmittersRCV000193227RCV000493253

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 SubmittersRCV000197668RCV002262794

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 SubmittersRCV000238885RCV000649294RCV000578131RCV002292496

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 SubmittersRCV000283712RCV000578361RCV000557296

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 SubmittersRCV000505249RCV000376655RCV004535247RCV001220983

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 SubmittersRCV000284743RCV001230659RCV001249645

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 SubmittersRCV000300231RCV002059077

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 SubmittersRCV000263871RCV002519094RCV005434757

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 SubmittersRCV000271099RCV001859551RCV003151006RCV004542994

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 SubmittersRCV000394346RCV002059096RCV004758681RCV005396867RCV005434758

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 SubmittersRCV000334417RCV000725010

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 SubmittersRCV000342265RCV002518839

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 SubmittersRCV000261275RCV003588608

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 SubmittersRCV000316534RCV002519127RCV003588609RCV004535292

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 SubmittersRCV000371888RCV000555230RCV000725339

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 SubmittersRCV000263647RCV002518897

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 SubmittersRCV000382903RCV003588610

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 SubmittersRCV000377102RCV002059156RCV003947880

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 SubmittersRCV000344376RCV002059167RCV004543056

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 SubmittersRCV000309425RCV002055058RCV004543057

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 SubmittersRCV003391043RCV000396358RCV001498841RCV004758683

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 SubmittersRCV000405022RCV000851303RCV001859633

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 SubmittersRCV000280514RCV000872410RCV005008252RCV003391046

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 SubmittersRCV000316495RCV001444830RCV004543082

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 SubmittersRCV000273130RCV001332283

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 SubmittersRCV000725904RCV000594764RCV000808309RCV004535373

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 SubmittersRCV000265067RCV001287103RCV001403678RCV005365227

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 SubmittersRCV000353239RCV005008258RCV002521979

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 SubmittersRCV000268029RCV001087369RCV004800376

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 SubmittersRCV000337584RCV001196888RCV001523201RCV004543129

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 SubmittersRCV000362351RCV002519328RCV004758684

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 SubmittersRCV000259370RCV001083606RCV004543133

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 SubmittersRCV000366916RCV004537611RCV003114459

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 SubmittersRCV000370796RCV003588611

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 SubmittersRCV000368766RCV001323700RCV002522043RCV004543150

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 SubmittersRCV000768006RCV001859847RCV003224256RCV002520810RCV000733020

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 SubmittersRCV003752793RCV004701797

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 SubmittersRCV001754248RCV002538731

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 SubmittersRCV002033307RCV004536365

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 SubmittersRCV004537742RCV001346479

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 SubmittersRCV000308871RCV005411410RCV005008286

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 SubmittersRCV001894377RCV004758831RCV003883713RCV004526152RCV005626516

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 SubmittersRCV000277260RCV000659716RCV001706470RCV004544537RCV005589813RCV005434801

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 SubmittersRCV001002444RCV001859848

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 SubmittersRCV003390222RCV005012947RCV005100017

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 SubmittersRCV001512878RCV002248517RCV004639208

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 SubmittersRCV003588909RCV004536662

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 SubmittersRCV000594856RCV004537736RCV001521254

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 SubmittersRCV002659617RCV004758913RCV005011084

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 SubmittersRCV000578148RCV000371781RCV001618596RCV000859904RCV002265745

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 SubmittersRCV000408635RCV002523836RCV002524612

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 SubmittersRCV000413702RCV000594502RCV000984092RCV004530513RCV004668916RCV003588627

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 SubmittersRCV000414083RCV000689855

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 SubmittersRCV000436939RCV002061318

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 SubmittersRCV000444580RCV005090700

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 SubmittersRCV000479907RCV001261325

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 SubmittersRCV000578132RCV000988747

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 SubmittersRCV000578142RCV003753126RCV005010415

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 SubmittersRCV000578140RCV002063861

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 SubmittersRCV001254328RCV004800433

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 SubmittersRCV000503486RCV001267387RCV001786394RCV004527612

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 SubmittersRCV000504046RCV001755743RCV002060123

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 SubmittersRCV000512897RCV005091165

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 SubmittersRCV000514080RCV000659801RCV002060186

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 SubmittersRCV000514112RCV002060204RCV005348143RCV004535658

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 SubmittersRCV000514006RCV002524982RCV001857866

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 SubmittersRCV000514113RCV001041581RCV001821440RCV002524987

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 SubmittersRCV000513947RCV000659821RCV001857870

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 SubmittersRCV001542416RCV002473031RCV002525046RCV005010470RCV000516233

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 SubmittersRCV000518659RCV001857908

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 SubmittersRCV000517847RCV000730803RCV000659759RCV002525048RCV002525047RCV004537850

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 SubmittersRCV000523702RCV001261320RCV004541628

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 SubmittersRCV000519716RCV000659761

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 SubmittersRCV000519007RCV002527598

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 SubmittersRCV000545685RCV004537958

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 SubmittersRCV000554613RCV003126812

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 SubmittersRCV000544912RCV001261319

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 SubmittersRCV000578523RCV001853839RCV002245021RCV004545788

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 SubmittersRCV000595782RCV000763854RCV001821725RCV001854046

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 SubmittersRCV000594517RCV002062068RCV004543366RCV003160039

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 SubmittersRCV000594565RCV001336570RCV005056263

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 SubmittersRCV000598545RCV002062073

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 SubmittersRCV000592375RCV001854069RCV005625699RCV005589866

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 SubmittersRCV000595880RCV001860214

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 SubmittersRCV000599418RCV000659817

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 SubmittersRCV000598596RCV000856808RCV001854121

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 SubmittersRCV000622781RCV000763851RCV001821758RCV001855304RCV004533295

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 SubmittersRCV000624430RCV001788303RCV001202175RCV001261352

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 SubmittersRCV000622538RCV001474222

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 SubmittersRCV000623468RCV003753146

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 SubmittersRCV000622445RCV000760463RCV000659734RCV001257646RCV004533293

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 SubmittersRCV000624308RCV005410909

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 SubmittersRCV000623895RCV001197576RCV001584448

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 SubmittersRCV000626219RCV001388480

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 SubmittersRCV000627093RCV001415744

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 SubmittersRCV000627275RCV003148808

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 SubmittersRCV000638431RCV005223081

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 SubmittersRCV000638446RCV001816585RCV003133424

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 SubmittersRCV000638428RCV000659795

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 SubmittersRCV000659834RCV000638437RCV004719911

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 SubmittersRCV000638427RCV000763856RCV004533338RCV005010620

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 SubmittersRCV000656284RCV000687466

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 SubmittersRCV000656306RCV000690858

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 SubmittersRCV000658462RCV003588661

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 SubmittersRCV000659827RCV003588663

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 SubmittersRCV000659824RCV001060415

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 SubmittersRCV000659823RCV002066964RCV005010645

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 SubmittersRCV000659820RCV002530556RCV004533449RCV004639313

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 SubmittersRCV001268133RCV000659813

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 SubmittersRCV000659808RCV000872429RCV001446522RCV004533448

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 SubmittersRCV000659803RCV003588662

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 SubmittersRCV000659800RCV003753151

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 SubmittersRCV000659798RCV005091901

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 SubmittersRCV004719920RCV000659793

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 SubmittersRCV000659791RCV001201477

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 SubmittersRCV000659783RCV000704753

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 SubmittersRCV000659781RCV005357878RCV003128720RCV003753150

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 SubmittersRCV000659780RCV001466229RCV002279478RCV004544920

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 SubmittersRCV000659774RCV003753149RCV005010644

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 SubmittersRCV000659768RCV002225706RCV001481332RCV004533447

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 SubmittersRCV000659765RCV003753148RCV005589876

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 SubmittersRCV000659764RCV000760314RCV002530555

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 SubmittersRCV000659762RCV000687769RCV004758720

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 SubmittersRCV000659758RCV002255498RCV004533446

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 SubmittersRCV000659751RCV002530554

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 SubmittersRCV000659737RCV001855389RCV002225705

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 SubmittersRCV000659733RCV001816661RCV004777813

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 SubmittersRCV000659732RCV000911213RCV001459987RCV004544919

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 SubmittersRCV000659729RCV002532009

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 SubmittersRCV000659722RCV004758719RCV005091900

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 SubmittersRCV000659712RCV002532008

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 SubmittersRCV000659708RCV003753147

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 SubmittersRCV000659697RCV001861712RCV004758717

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 SubmittersRCV000659694RCV002534325

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 SubmittersRCV000659693RCV002295309

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 SubmittersRCV000659687RCV002536342

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 SubmittersRCV000659685RCV002534324

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 SubmittersRCV000681514RCV001868307RCV002307588

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 SubmittersRCV000691724RCV004702325

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 SubmittersRCV000697354RCV001291752RCV005010703

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 SubmittersRCV004798858RCV000702805

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 SubmittersRCV000686273RCV004527738RCV004639320

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 SubmittersRCV000685508RCV001813796

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 SubmittersRCV000712305RCV001861974

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 SubmittersRCV000727922RCV002535051RCV004540033

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 SubmittersRCV000728092RCV002060966RCV004540034

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 SubmittersRCV000729065RCV001862165

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 SubmittersRCV000730804RCV003117529RCV004535839

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 SubmittersRCV000732460RCV001816803RCV002067130

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 SubmittersRCV000732648RCV001855689RCV005004395

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 SubmittersRCV000733049RCV005056490

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 SubmittersRCV001063842RCV000733445

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 SubmittersRCV000733975RCV002067160RCV004540072

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 SubmittersRCV000734492RCV001855815RCV002536521RCV004540074

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 SubmittersRCV000734860RCV005092159

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 SubmittersRCV000735048RCV003753156

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 SubmittersRCV000760462RCV001855926RCV002533836RCV002285172RCV003883162

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 SubmittersRCV000760811RCV001779074RCV003642916

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 SubmittersRCV000768007RCV003224807

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 SubmittersRCV000768008RCV001572528RCV001869057RCV003224414RCV004540088

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 SubmittersRCV000768009RCV001785720RCV003224415RCV003768306

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 SubmittersRCV000768010RCV003224416RCV002533930

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 SubmittersRCV000768255RCV002533939RCV003224446

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 SubmittersRCV000782029RCV002509534RCV003588678RCV003156134RCV004798870RCV004535913

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 SubmittersRCV000785108RCV002535721

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 SubmittersRCV001382674RCV004813137

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 SubmittersRCV000807396RCV005012341

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 SubmittersRCV000809405RCV001261270

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 SubmittersRCV000816142RCV001261266

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 SubmittersRCV000793290RCV002245669

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 SubmittersRCV000798575RCV005626218

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 SubmittersRCV000810693RCV004721631

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 SubmittersRCV000850498RCV005411587

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 SubmittersRCV000853276RCV002269324RCV003332269

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 SubmittersRCV000946376RCV002546009RCV004543552

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 SubmittersRCV001818700RCV000895124RCV002065615

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 SubmittersRCV000943965RCV001435489

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 SubmittersRCV000930034RCV005012396RCV005092810

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 SubmittersRCV000988830RCV001510488RCV004536015RCV005256733

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 SubmittersRCV001819701RCV001858750RCV000992311

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 SubmittersRCV000992309RCV001858749RCV005236507

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 SubmittersRCV000992308RCV001858748RCV003447569

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 SubmittersRCV000992315RCV002549793RCV002275178

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 SubmittersRCV001002641RCV001683722RCV001410364RCV002549185RCV004545010

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 SubmittersRCV001000836RCV001858913RCV003392728RCV004545007RCV005012433

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 SubmittersRCV001390429RCV001352916RCV001252695RCV003147574

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 SubmittersRCV001071132RCV004720063

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 SubmittersRCV001055633RCV001823181

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 SubmittersRCV001047223RCV004536090

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 SubmittersRCV001090719RCV001873447

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 SubmittersRCV001090722RCV001862681

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 SubmittersRCV001095777RCV002554883RCV003769039RCV001759864

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 SubmittersRCV001197285RCV002560233RCV002560232

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 SubmittersRCV001197423RCV004528409RCV001863113

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 SubmittersRCV001196769RCV002560225

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 SubmittersRCV001215175RCV002285458

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 SubmittersRCV001203355RCV003490117

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 SubmittersRCV001211934RCV001261303

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 SubmittersRCV001249759RCV002504372

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 SubmittersRCV001249846RCV001879766

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 SubmittersRCV002468626RCV001254684

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 SubmittersRCV001254693RCV001879916RCV003130235

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 SubmittersRCV002570582RCV004545157RCV004799365

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 SubmittersRCV001261271RCV001815528

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 SubmittersRCV001261210RCV001880013RCV001586096RCV004987012

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 SubmittersRCV001261208RCV005094245

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 SubmittersRCV001261328RCV003145498

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 SubmittersRCV001363670RCV001262241RCV003135900RCV004758786RCV005437046

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 SubmittersRCV001265857RCV001382692RCV001546647RCV002504381

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 SubmittersRCV001268118RCV001880162

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 SubmittersRCV001270728RCV001550815RCV003770415RCV003985023

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 SubmittersRCV001270729RCV001550716RCV003224539RCV001880218

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 SubmittersRCV001280990RCV001871625RCV003224544RCV004545173

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 SubmittersRCV001280991RCV002537909RCV003224545

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 SubmittersRCV001289095RCV005012719RCV001863152

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 SubmittersRCV001291663RCV005094350

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 SubmittersRCV001291677RCV005094351

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 SubmittersRCV001291801RCV002538406RCV005243501

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 SubmittersRCV001294276RCV003389865RCV004531074

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 SubmittersRCV001301555RCV005012742RCV002473259

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 SubmittersRCV001310647RCV002543557

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 SubmittersRCV001326871RCV004528468

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 SubmittersRCV001332276RCV003753175

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 SubmittersRCV001332272RCV002546543

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 SubmittersRCV001329082RCV002546304

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 SubmittersRCV001329081RCV002546303

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 SubmittersRCV001336041RCV001534524RCV001871881

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 SubmittersRCV001336573RCV002546785

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 SubmittersRCV001336049RCV001865842RCV002546757

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 SubmittersRCV001336047RCV002547347

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 SubmittersRCV001336045RCV003227026RCV005094435

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 SubmittersRCV001336043RCV004531123RCV005012783RCV003120561

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 SubmittersRCV001341695RCV005005841

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 SubmittersRCV001341131RCV005005839

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 SubmittersRCV001338863RCV005005835

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 SubmittersRCV001343260RCV001843586RCV004528471RCV005437094RCV001587362

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 SubmittersRCV001360073RCV005005876

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 SubmittersRCV001364443RCV004531166

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 SubmittersRCV001371116RCV004597990

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 SubmittersRCV001366060RCV002488131RCV004531169

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 SubmittersRCV001377333RCV001762661

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 SubmittersRCV001402815RCV004546648

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 SubmittersRCV001423358RCV005005933

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 SubmittersRCV001477302RCV004540414RCV005438086

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 SubmittersRCV001520039RCV001587455RCV005408940

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 SubmittersRCV001511993RCV001664913

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 SubmittersRCV001532690RCV003588742RCV004785267

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 SubmittersRCV001538979RCV002568246RCV003246980RCV004528508

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 SubmittersRCV001538646RCV002071941RCV004536165

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 SubmittersRCV001542339RCV002568946

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 SubmittersRCV001542365RCV005005953RCV002568947

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 SubmittersRCV001542298RCV002568943

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 SubmittersRCV001551553RCV002568332RCV004542002

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 SubmittersRCV001549770RCV001882626RCV004758809RCV005395068

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 SubmittersRCV001555441RCV001821879RCV002072074RCV004758811

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 SubmittersRCV001561199RCV001821889RCV002568407

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 SubmittersRCV001561423RCV002568408RCV005348549

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 SubmittersRCV001563177RCV004039331RCV004536190RCV001865985RCV005237902

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 SubmittersRCV001560553RCV002568402RCV004536182

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 SubmittersRCV001562570RCV005094787RCV005438092RCV005590074

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 SubmittersRCV001563469RCV001865987RCV004758813

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 SubmittersRCV001568238RCV003588746RCV004542015RCV005005968

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 SubmittersRCV001564186RCV005040320

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 SubmittersRCV001568727RCV002072187RCV002072186RCV004542016

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 SubmittersRCV001578179RCV002072277

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 SubmittersRCV001866091RCV001579524RCV002573249RCV003399389

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 SubmittersRCV001589474RCV003588749

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 SubmittersRCV001591657RCV002573301

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 SubmittersRCV005005982RCV003753186RCV001592638RCV004039530RCV004758818

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 SubmittersRCV001653110RCV003753187RCV005005986

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 SubmittersRCV001665369RCV002538545RCV003234088RCV004536242RCV003753189

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 SubmittersRCV001663454RCV002032648RCV005396969

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 SubmittersRCV001702317RCV001821958RCV002077162

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 SubmittersRCV002032699RCV001725900RCV005005999

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 SubmittersRCV001732325RCV002032714

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 SubmittersRCV001732512RCV002073970RCV005006000

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 SubmittersRCV001732535RCV003588757RCV005006001

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 SubmittersRCV001754197RCV005094922

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 SubmittersRCV001756415RCV004536278RCV002539866

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 SubmittersRCV001758287RCV003314015

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 SubmittersRCV001751997RCV003588760RCV005006011

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 SubmittersRCV001756802RCV003753195RCV004758826RCV005006021

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 SubmittersRCV001756838RCV001882898

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 SubmittersRCV001756986RCV005057588

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 SubmittersRCV001752706RCV003772015

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 SubmittersRCV001752750RCV003753198

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 SubmittersRCV001758605RCV003753196

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 SubmittersRCV001758638RCV003642975

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 SubmittersRCV001767637RCV005057589

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 SubmittersRCV001767898RCV005006025RCV003772001

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 SubmittersRCV001761345RCV003528328

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 SubmittersRCV001774440RCV002540477RCV004988731

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 SubmittersRCV001769311RCV005006030RCV005095033

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 SubmittersRCV001769362RCV001868605RCV004040274RCV004758827

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 SubmittersRCV001772946RCV002540554RCV005006032

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 SubmittersRCV001885076RCV001774718

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 SubmittersRCV001782333RCV004728816

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 SubmittersRCV001797477RCV005006059RCV005095159

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 SubmittersRCV004988752RCV001800030RCV002541333

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 SubmittersRCV001806563RCV001869484RCV004536323RCV005006063

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 SubmittersRCV001806612RCV001885252

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 SubmittersRCV001808846RCV002256842RCV004988761

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 SubmittersRCV001815741RCV002542469RCV005369961

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 SubmittersRCV001819353RCV001869688RCV004529020

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 SubmittersRCV001819448RCV003588771

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 SubmittersRCV001819465RCV003753206

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 SubmittersRCV001819616RCV002074319RCV005006073

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 SubmittersRCV001820231RCV002074322RCV005006075

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 SubmittersRCV001820676RCV003753209

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 SubmittersRCV001822398RCV001869750RCV004536342RCV004988769

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 SubmittersRCV001822424RCV001869753RCV004542132

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 SubmittersRCV001822629RCV001869765RCV004536345

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 SubmittersRCV001822645RCV001869766

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 SubmittersRCV001837222RCV005057666

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 SubmittersRCV001837294RCV001869844

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 SubmittersRCV001837330RCV005095303

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 SubmittersRCV001843634RCV001885390

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 SubmittersRCV001849638RCV002034773

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 SubmittersRCV001997335RCV005006298

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 SubmittersRCV001913727RCV004720973

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 SubmittersRCV002002120RCV002562094RCV002503667RCV004538653

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 SubmittersRCV003481206RCV001931665

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 SubmittersRCV002015106RCV005406259

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 SubmittersRCV001924154RCV004821319

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 SubmittersRCV001905790RCV005006158

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 SubmittersRCV001991888RCV005008382

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 SubmittersRCV002036678RCV004821322

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 SubmittersRCV001864985RCV005235597RCV005590116

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 SubmittersRCV001904792RCV005006110

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 SubmittersRCV001872220RCV004693809

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 SubmittersRCV001953204RCV004542193RCV004694031

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 SubmittersRCV002023306RCV005008419

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 SubmittersRCV001875465RCV003389885

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 SubmittersRCV002031635RCV004584943

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 SubmittersRCV001905374RCV002222734RCV004758832RCV005006116

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 SubmittersRCV001893198RCV004809692

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 SubmittersRCV001970897RCV004529071RCV005361887

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 SubmittersRCV001982430RCV004542194RCV004631857

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 SubmittersRCV001977495RCV002272550

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 SubmittersRCV001943639RCV005006239

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 SubmittersRCV001996971RCV004538671RCV005002707

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 SubmittersRCV002042566RCV004763305

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 SubmittersRCV001996670RCV005397194

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 SubmittersRCV002020049RCV004538726

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 SubmittersRCV001894879RCV005006124

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 SubmittersRCV001926157RCV004529052RCV005006241RCV005235610

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 SubmittersRCV001887190RCV005006175

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 SubmittersRCV001926414RCV004546687RCV005002676RCV004758847

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 SubmittersRCV002006598RCV002509742

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 SubmittersRCV002509715RCV001922541RCV004801081

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 SubmittersRCV001900260RCV005238029RCV004538564

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 SubmittersRCV002009640RCV005008408

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 SubmittersRCV004538748RCV002046281RCV003134367

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 SubmittersRCV001876758RCV005006106RCV004529030

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 SubmittersRCV001967238RCV002560634

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 SubmittersRCV002030052RCV004536358

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 SubmittersRCV001913232RCV002307788RCV005006191

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 SubmittersRCV001894183RCV004542146RCV004699505

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 SubmittersRCV001900338RCV003148997

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 SubmittersRCV001964725RCV003395294

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 SubmittersRCV001925097RCV004779181RCV005006196

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 SubmittersRCV001925445RCV005006199

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 SubmittersRCV002026083RCV005008421

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 SubmittersRCV001931857RCV004536388RCV002548029

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 SubmittersRCV001887043RCV005006162

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 SubmittersRCV001939164RCV003883723

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 SubmittersRCV002017095RCV004641887RCV005008415RCV003388082RCV003395357RCV004538737

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 SubmittersRCV002018196RCV005232777

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 SubmittersRCV001903552RCV005626541

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 SubmittersRCV001959783RCV005002690

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 SubmittersRCV001883582RCV004758834RCV005006138

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 SubmittersRCV001891950RCV005006141

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 SubmittersRCV001934869RCV002272510RCV005006114

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 SubmittersRCV001975051RCV004776453

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 SubmittersRCV001978340RCV005008366RCV004758851

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 SubmittersRCV002001975RCV002561537RCV005057809

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 SubmittersRCV004744214RCV002040803

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 SubmittersRCV001913967RCV005006236

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 SubmittersRCV001892166RCV003407884RCV005622131RCV005626531

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 SubmittersRCV001940175RCV003134233

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 SubmittersRCV001934155RCV004538657RCV005006272

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 SubmittersRCV001954455RCV005008317

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 SubmittersRCV002024863RCV005592384

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 SubmittersRCV002171422RCV005008469

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 SubmittersRCV002124725RCV005008464

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 SubmittersRCV002141522RCV005008465

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 SubmittersRCV002217120RCV003130688RCV004531325

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 SubmittersRCV002085397RCV004584462

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 SubmittersRCV002090559RCV003130689

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 SubmittersRCV002117587RCV004758866RCV005008460

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 SubmittersRCV002103570RCV005008457

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 SubmittersRCV002095789RCV004531372RCV005008458

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 SubmittersRCV002209029RCV004982889

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 SubmittersRCV002115772RCV003447618RCV004531405

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 SubmittersRCV002172844RCV004538786RCV005008447

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 SubmittersRCV002290846RCV002096930

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 SubmittersRCV002216044RCV002243513RCV003006995

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 SubmittersRCV002174567RCV004545229RCV005008476RCV005242200

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 SubmittersRCV005008449RCV002175087

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 SubmittersRCV002127800RCV004631968

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 SubmittersRCV002148646RCV004531497

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 SubmittersRCV002074509RCV003134389RCV005008470

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 SubmittersRCV002127161RCV004531396

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 SubmittersRCV002211223RCV003151391RCV003753214RCV005592416

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 SubmittersRCV002245278RCV003120848RCV005008487

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 SubmittersRCV002249278RCV005095819

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 SubmittersRCV002250084RCV004555897

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 SubmittersRCV002251119RCV005232921

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 SubmittersRCV002255006RCV003588788RCV005008493

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 SubmittersRCV002266888RCV003588793RCV004534021

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 SubmittersRCV003588794RCV003101522RCV002267217

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 SubmittersRCV002273161RCV003319512

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 SubmittersRCV002275664RCV003096225RCV003096226

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 SubmittersRCV003753223RCV004529116RCV002275671

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 SubmittersRCV002277680RCV003753224

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 SubmittersRCV002279000RCV003992623RCV003774916

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 SubmittersRCV002280434RCV003753225

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 SubmittersRCV002302428RCV003098014RCV003395452

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 SubmittersRCV002461899RCV003111565RCV005008590

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 SubmittersRCV002466899RCV003108119RCV004529145RCV005008592

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 SubmittersRCV002471374RCV002571452RCV004641962

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 SubmittersRCV002470232RCV005350947

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 SubmittersRCV002505981RCV003149036

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 SubmittersRCV003071262RCV005010935

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 SubmittersRCV003073928RCV005010918RCV005433973

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 SubmittersRCV005351087RCV003071019

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 SubmittersRCV003063021RCV004536557RCV004801275

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 SubmittersRCV003063076RCV005010930

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 SubmittersRCV003056784RCV004536550RCV005010916

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 SubmittersRCV004812467RCV003068541

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 SubmittersRCV003068548RCV005010943

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 SubmittersRCV003077331RCV005010964

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 SubmittersRCV003085541RCV004758905RCV005010966

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 SubmittersRCV003078724RCV005242303

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 SubmittersRCV003089685RCV003130831

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 SubmittersRCV003091095RCV003491231

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 SubmittersRCV003078136RCV005010979

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 SubmittersRCV002584670RCV005011010

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 SubmittersRCV002584706RCV004985205

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 SubmittersRCV002588303RCV005011014

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 SubmittersRCV003084520RCV003090133

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 SubmittersRCV003093197RCV004536612

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 SubmittersRCV003093056RCV005353096RCV005010998

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 SubmittersRCV002591611RCV005011030

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 SubmittersRCV002602864RCV004725542

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 SubmittersRCV002610885RCV005011037

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 SubmittersRCV002596267RCV005011045

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 SubmittersRCV002596298RCV005011046

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 SubmittersRCV002636707RCV004758910RCV005011052

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 SubmittersRCV002616737RCV005011057

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 SubmittersRCV002595867RCV004538808

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 SubmittersRCV002632506RCV005011044

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 SubmittersRCV002611255RCV004636681

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 SubmittersRCV002623409RCV005011048

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 SubmittersRCV002595709RCV004529211RCV003269480

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 SubmittersRCV002633445RCV003140131RCV004538841

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 SubmittersRCV002625078RCV003274308

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 SubmittersRCV002629517RCV005011083

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 SubmittersRCV002644143RCV005011089

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 SubmittersRCV002612564RCV003222460RCV005011069

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 SubmittersRCV002629469RCV004758912RCV005011082

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 SubmittersRCV002654642RCV005011087

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 SubmittersRCV003108524RCV005011205

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 SubmittersRCV002583408RCV005008624

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 SubmittersRCV002617140RCV005227796

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 SubmittersRCV002600611RCV005008643

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 SubmittersRCV002613342RCV004529159

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 SubmittersRCV002609101RCV002634657

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 SubmittersRCV002609258RCV005008663

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 SubmittersRCV002622533RCV005008671

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 SubmittersRCV002618824RCV005008669

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 SubmittersRCV002659585RCV004983080RCV005416644

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 SubmittersRCV002643021RCV005008681

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 SubmittersRCV002659564RCV005008690

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 SubmittersRCV002650670RCV004983071

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 SubmittersRCV002643520RCV004534162

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 SubmittersRCV002685471RCV005008687

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 SubmittersRCV002690766RCV005008704

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 SubmittersRCV002725767RCV005008706

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 SubmittersRCV002700447RCV005008696RCV004642007

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 SubmittersRCV002695898RCV005008705

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 SubmittersRCV002711020RCV005008712

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 SubmittersRCV002735786RCV004529166

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 SubmittersRCV002760604RCV005008723

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 SubmittersRCV003321956RCV002755329RCV005351008

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 SubmittersRCV002781016RCV002805334RCV003111592

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 SubmittersRCV002770298RCV003134493

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 SubmittersRCV002756940RCV005008748

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 SubmittersRCV005008767RCV002875590

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 SubmittersRCV002885644RCV002885643RCV004529178

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 SubmittersRCV002913223RCV005399002RCV004536441

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 SubmittersRCV002914725RCV005010791

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 SubmittersRCV002923149RCV005010792

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 SubmittersRCV002947127RCV004983197

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 SubmittersRCV002937665RCV005010783

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 SubmittersRCV002938390RCV005010789

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 SubmittersRCV002943243RCV003170684

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 SubmittersRCV002929189RCV004536480

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 SubmittersRCV002961913RCV005010824RCV004758899

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 SubmittersRCV002971213RCV002971212

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 SubmittersRCV002954316RCV005010823

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 SubmittersRCV002982666RCV004536511

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 SubmittersRCV002979965RCV005002921

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 SubmittersRCV002996536RCV004536526RCV005010862

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 SubmittersRCV002988679RCV005010848

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 SubmittersRCV002983101RCV004813211RCV005010851RCV005592560

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 SubmittersRCV003005098RCV003134585RCV005433958

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 SubmittersRCV002972380RCV005010843

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 SubmittersRCV003009098RCV003883858

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 SubmittersRCV003011413RCV004540499RCV003134584RCV005010860

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 SubmittersRCV002976617RCV003389913RCV005362952

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 SubmittersRCV003007378RCV005010864

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 SubmittersRCV003047827RCV005010890

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 SubmittersRCV002686841RCV003777596

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 SubmittersRCV002691872RCV003588849

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 SubmittersRCV002722752RCV003588851

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 SubmittersRCV002787092RCV003753250

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 SubmittersRCV002898535RCV003395652RCV005011157

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 SubmittersRCV002939832RCV005059367

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 SubmittersRCV002944986RCV003777989

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 SubmittersRCV002765292RCV005011199RCV005099213

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 SubmittersRCV003131398RCV005099305

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 SubmittersRCV003131399RCV003588865

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 SubmittersRCV003133944RCV003588866RCV004246012RCV004529243RCV005011237

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 SubmittersRCV003131403RCV003588867

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 SubmittersRCV003148101RCV003778887

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 SubmittersRCV003225705RCV005402019

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 SubmittersRCV003228383RCV005102435

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 SubmittersRCV003237117RCV003753265

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 SubmittersRCV003309459RCV003777089

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 SubmittersRCV003303903RCV005102634

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 SubmittersRCV004758932RCV005012868RCV005102878RCV003318249

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 SubmittersRCV005012869RCV005061266RCV003318251RCV004731524

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 SubmittersRCV003327355RCV005227995

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 SubmittersRCV003332793RCV005103955

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 SubmittersRCV003342394RCV003588898RCV005012889

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 SubmittersRCV003354139RCV003753272

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 SubmittersRCV003378950RCV005012907

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 SubmittersRCV003753277RCV004529703

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 SubmittersRCV004529709RCV004985342RCV005104307

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 SubmittersRCV003753286RCV004534286

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 SubmittersRCV004534328RCV005099963

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 SubmittersRCV003588902RCV004529683

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 SubmittersRCV004534235RCV003753285

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 SubmittersRCV004529759RCV003753279

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 SubmittersRCV004529762RCV003778202

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 SubmittersRCV003398169RCV003753288

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 SubmittersRCV003391778RCV003778384

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 SubmittersRCV003390227RCV003588912

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 SubmittersRCV003391785RCV003588913

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 SubmittersRCV003391791RCV005100018

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 SubmittersRCV003443829RCV003778469

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 SubmittersRCV003456806RCV005062956

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 SubmittersRCV003456807RCV005399401RCV005100116

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 SubmittersRCV004783070RCV004536832RCV005012999RCV003589771

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 SubmittersRCV003590608RCV004369066RCV005013005

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 SubmittersRCV003590657RCV005013006

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 SubmittersRCV003590875RCV005013012

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 SubmittersRCV003588294RCV005013020

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 SubmittersRCV004758940RCV003588307RCV005013021

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 SubmittersRCV004985414RCV003588289

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 SubmittersRCV004758941RCV003588397RCV005013025

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 SubmittersRCV003589111RCV005013042

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 SubmittersRCV003590247RCV005013054

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 SubmittersRCV003590345RCV005013057

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 SubmittersRCV003591069RCV005013061

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 SubmittersRCV003753312RCV005013065

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 SubmittersRCV003754705RCV005013100

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 SubmittersRCV003752598RCV005013106

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 SubmittersRCV003752866RCV004373931

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 SubmittersRCV005392668RCV003752783RCV004763753RCV004758945

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 SubmittersRCV003752784RCV005013118

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 SubmittersRCV003752947RCV005013128

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 SubmittersRCV003752913RCV005013123

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 SubmittersRCV005013127RCV003752945

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 SubmittersRCV003753019RCV005013138

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 SubmittersRCV003752897RCV005438185

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 SubmittersRCV005013129RCV003752952

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 SubmittersRCV003753045RCV003739559

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 SubmittersRCV003753626RCV005013155

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 SubmittersRCV003753058RCV005013142

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 SubmittersRCV003753602RCV004780635

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 SubmittersRCV003753713RCV005013160

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 SubmittersRCV003753780RCV004690475

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 SubmittersRCV003753807RCV005013174

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 SubmittersRCV003753738RCV005013165

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 SubmittersRCV003827926RCV005592803

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 SubmittersRCV003826281RCV005013219

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 SubmittersRCV003839610RCV005013233

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 SubmittersRCV003843919RCV005013239

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 SubmittersRCV003849504RCV005013241

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 SubmittersRCV003868877RCV005013258RCV005592826

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 SubmittersRCV003859161RCV005013247

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 SubmittersRCV003857437RCV004758951RCV005013250

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 SubmittersRCV003867123RCV005592828

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 SubmittersRCV003872612RCV005013273

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 SubmittersRCV003871786RCV005363304

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 SubmittersRCV003864991RCV004634400

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 SubmittersRCV003890768RCV004731582

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 SubmittersRCV005104506RCV004409838RCV005006387

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 SubmittersRCV005101935RCV004577072

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 SubmittersRCV004729282RCV005103606

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 SubmittersRCV005104972RCV004775692

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 SubmittersRCV004772182RCV005104974

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 SubmittersRCV004983813RCV005061789

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 SubmittersRCV005009166RCV005112550

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 SubmittersRCV005009262RCV005112554

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 SubmittersRCV005011261RCV005112556

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 SubmittersRCV005011274RCV005061849

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 SubmittersRCV005009110RCV005112544

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 SubmittersRCV005009134RCV005061845

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 SubmittersRCV005009147RCV005061846

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 SubmittersRCV005080224RCV005358205

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 SubmittersRCV005176092RCV005594981

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 SubmittersRCV005179264RCV005250401

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