Total 326 pathogenic variants reported for Kleefstra syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_024757.5(EHMT1):c.3502C>T (p.Arg1168Ter) SNV
Germline
Chr9:137818100 Likely pathogenic Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Single Submitter
CA340098 rs_121918301

5 SubmittersRCV000003789RCV001579482

NM_024757.5(EHMT1):c.3218G>A (p.Cys1073Tyr) SNV
Germline
Chr9:137814468 Pathogenic Kleefstra syndrome 1 No Assertion Criteria Provided
CA340102 rs_137852726

2 SubmittersRCV000003791

NM_024757.5(EHMT1):c.871C>T (p.Arg291Ter) SNV
Germline
Chr9:137743418 Pathogenic Kleefstra syndrome 1 Criteria Provided
Multiple Submitters
No Conflicts
CA340104 rs_137852714

4 SubmittersRCV000003792

NM_020297.4(ABCC9):c.3346C>T (p.Arg1116Cys) SNV
Germline
Chr12:21842441 Pathogenic/Likely pathogenic Hypertrichotic osteochondrodysplasia Cantu type
Dilated cardiomyopathy 1O
Cardiovascular phenotype
Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA260087 rs_387907228

7 SubmittersRCV000029189RCV000809546RCV002321487RCV001249678RCV001699182

NM_024757.5(EHMT1):c.1858C>T (p.Arg620Ter) SNV
Germline
Chr9:137776684 Pathogenic Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA345052 rs_137852718

4 SubmittersRCV000055959RCV001268799

NM_024757.5(EHMT1):c.2193-1G>C SNV
Germline
Chr9:137779634 Pathogenic Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Single Submitter
CA345056 rs_137852720

2 SubmittersRCV000055961RCV000623370

NM_024757.5(EHMT1):c.3229C>T (p.Gln1077Ter) SNV
Germline
Chr9:137814479 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
CA345061 rs_137852725

2 SubmittersRCV000055966

NM_024757.5(EHMT1):c.3589C>T (p.Arg1197Trp) SNV
Germline
Chr9:137834397 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
CA345063 rs_137852727

2 SubmittersRCV000055967

NM_170606.3(KMT2C):c.4441C>T (p.Arg1481Ter) SNV
Germline
Chr7:152194506 Likely pathogenic Kleefstra syndrome 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA266206 rs_587777073

3 SubmittersRCV000074464RCV000578504

NM_024757.5(EHMT1):c.1369+9C>T SNV
Germline
Chr9:137754300 Conflicting classifications of pathogenicity not specified
Kleefstra syndrome 1
EHMT1-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA149288 rs_146125583

5 SubmittersRCV000082217RCV000387937RCV003974986RCV002262626

NM_024757.5(EHMT1):c.2128G>A (p.Gly710Ser) SNV
Germline
Chr9:137777991 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA223764 rs_398124403

2 SubmittersRCV000082222RCV001034502

NM_024757.5(EHMT1):c.2186C>T (p.Ser729Leu) SNV
Germline
Chr9:137778049 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA223766 rs_398124404

3 SubmittersRCV000082223RCV000263726RCV002426646

NM_024757.5(EHMT1):c.2509G>A (p.Ala837Thr) SNV
Germline
Chr9:137798816 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA223770 rs_398124406

2 SubmittersRCV000082225RCV001304186

NM_024757.5(EHMT1):c.2705G>A (p.Arg902Gln) SNV
Germline
Chr9:137800977 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA223772 rs_377070695

3 SubmittersRCV000082226RCV001081690

NM_024757.5(EHMT1):c.3401G>A (p.Arg1134Gln) SNV
Germline
Chr9:137817465 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA223774 rs_373174786

4 SubmittersRCV000082232RCV000798416RCV002514442

NM_024757.5(EHMT1):c.3555C>T (p.Tyr1185=) SNV
Germline
Chr9:137834363 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA223776 rs_398124407

4 SubmittersRCV000082235RCV001513696RCV002336239

NM_024757.5(EHMT1):c.3848A>C (p.Glu1283Ala) SNV
Germline
Chr9:137834904 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA223778 rs_398124408

6 SubmittersRCV000082237RCV000395808RCV002362732

NM_024757.5(EHMT1):c.529G>C (p.Ala177Pro) SNV
Germline
Chr9:137717069 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA223780 rs_182595609

4 SubmittersRCV000082240RCV001046573

NM_024757.5(EHMT1):c.575C>T (p.Pro192Leu) SNV
Germline
Chr9:137717115 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Inborn genetic diseases
EHMT1-related disorder
Criteria Provided
Conflicting Classifications
CA223786 rs_35285441

5 SubmittersRCV000082243RCV000348835RCV004019575RCV003974987

NM_024757.5(EHMT1):c.1865A>G (p.Asn622Ser) SNV
Germline
Chr9:137776691 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
EHMT1-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA231083 rs_184814386

6 SubmittersRCV000116959RCV000547981RCV003964980RCV002316302

NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu) SNV
Germline
Chr9:137790891 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA231085 rs_587780332

5 SubmittersRCV000116960RCV002528212

NM_024757.5(EHMT1):c.309G>A (p.Ala103=) SNV
Germline
Chr9:137716849 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA231087 rs_138824805

4 SubmittersRCV000116962RCV001089426RCV002321593

NM_170606.3(KMT2C):c.1700A>G (p.Asn567Ser) SNV
Germline
Chr7:152250888 Conflicting classifications of pathogenicity not specified
Kleefstra syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA160655 rs_12674022

4 SubmittersRCV000121454RCV003133137RCV003422000

NM_170606.3(KMT2C):c.6896A>G (p.Tyr2299Cys) SNV
Germline
Chr7:152180964 Conflicting classifications of pathogenicity not specified
Condition: not provided
Kleefstra syndrome 2
Criteria Provided
Conflicting Classifications
CA160683 rs_587778494

3 SubmittersRCV000121469RCV001854649RCV003448267

NM_170606.3(KMT2C):c.10513A>G (p.Asn3505Asp) SNV
Germline
Chr7:152163064 Conflicting classifications of pathogenicity not specified
Intellectual disability
Condition: not provided
Kleefstra syndrome 2
KMT2C-related disorder
Criteria Provided
Conflicting Classifications
CA160739 rs_140626076

5 SubmittersRCV000121497RCV001251812RCV001854653RCV003133138RCV004530019

NM_170606.3(KMT2C):c.709A>G (p.Ile237Val) SNV
Germline
Chr7:152311828 Conflicting classifications of pathogenicity not specified
Condition: not provided
Kleefstra syndrome 2
Criteria Provided
Conflicting Classifications
CA160789 rs_587778510

4 SubmittersRCV000121523RCV001854658RCV002505064

NM_170606.3(KMT2C):c.14017C>T (p.Arg4673Cys) SNV
Germline
Chr7:152146613 Conflicting classifications of pathogenicity not specified
Kleefstra syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA160803 rs_370620314

3 SubmittersRCV000121530RCV003133140RCV001854659

NM_024757.5(EHMT1):c.611G>A (p.Arg204His) SNV
Germline
Chr9:137717151 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA236336 rs_786205601

2 SubmittersRCV000171430RCV002516557

NM_024757.5(EHMT1):c.2039C>T (p.Ser680Leu) SNV
Germline
Chr9:137777902 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA240154 rs_147523309

6 SubmittersRCV000174602RCV001202984RCV002517679

NM_024757.5(EHMT1):c.2595C>T (p.Asp865=) SNV
Germline
Chr9:137798902 Conflicting classifications of pathogenicity not specified
Condition: not provided
Kleefstra syndrome 1
EHMT1-related disorder
Criteria Provided
Conflicting Classifications
CA240960 rs_780742937

6 SubmittersRCV000175233RCV000723987RCV001087047RCV003955037

NM_024757.5(EHMT1):c.2695A>G (p.Ile899Val) SNV
Germline
Chr9:137800967 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Inborn genetic diseases
EHMT1-related disorder
Criteria Provided
Conflicting Classifications
CA241102 rs_144085805

6 SubmittersRCV000175367RCV000334229RCV002314606RCV003917626

NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys) SNV
Germline
Chr9:137711015 Conflicting classifications of pathogenicity not specified
Kleefstra syndrome 1
Condition: not provided
Inborn genetic diseases
EHMT1-related disorder
Criteria Provided
Conflicting Classifications
CA241803 rs_373269573

7 SubmittersRCV000175948RCV000702204RCV000723953RCV002362893RCV003947492

NM_024757.5(EHMT1):c.35G>C (p.Arg12Thr) SNV
Germline
Chr9:137710980 Conflicting classifications of pathogenicity not specified
Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA206349 rs_777999570

4 SubmittersRCV000193096RCV000695929RCV000724554

NM_024757.5(EHMT1):c.3015C>T (p.Pro1005=) SNV
Germline
Chr9:137813153 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA241985 rs_773020101

2 SubmittersRCV000176117RCV001078931

NM_024757.5(EHMT1):c.3081C>T (p.Asn1027=) SNV
Germline
Chr9:137813431 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA242094 rs_777106945

2 SubmittersRCV000176228RCV001087397

NM_024757.5(EHMT1):c.91C>T (p.Pro31Ser) SNV
Germline
Chr9:137716631 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA243491 rs_759512176

3 SubmittersRCV000177337RCV002516737

NM_024757.5(EHMT1):c.589G>A (p.Asp197Asn) SNV
Germline
Chr9:137717129 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA243495 rs_774174988

4 SubmittersRCV000177339RCV001484691RCV002354457

NM_024757.5(EHMT1):c.183C>T (p.Ser61=) SNV
Germline
Chr9:137716723 Conflicting classifications of pathogenicity not specified
Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA243499 rs_774448433

4 SubmittersRCV000177342RCV000277991RCV000723982

NM_024757.5(EHMT1):c.298G>A (p.Asp100Asn) SNV
Germline
Chr9:137716838 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Inborn genetic diseases
EHMT1-related disorder
Criteria Provided
Conflicting Classifications
CA243501 rs_540121859

5 SubmittersRCV000177343RCV000701234RCV002433774RCV003927644

NM_024757.5(EHMT1):c.86-5G>A SNV
Germline
Chr9:137716621 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA243505 rs_371370370

4 SubmittersRCV000177345RCV001337915

NM_024757.5(EHMT1):c.1159C>T (p.Arg387Cys) SNV
Germline
Chr9:137744079 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA246809 rs_532880924

2 SubmittersRCV000179532RCV001035612

NM_024757.5(EHMT1):c.1008C>A (p.Ser336Arg) SNV
Germline
Chr9:137743928 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA246811 rs_760537869

3 SubmittersRCV000179533RCV001062404RCV002453639

NM_024757.5(EHMT1):c.1425C>T (p.Asp475=) SNV
Germline
Chr9:137757935 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA248232 rs_794727979

2 SubmittersRCV000180688RCV002054155

NM_024757.5(EHMT1):c.576G>A (p.Pro192=) SNV
Germline
Chr9:137717116 Conflicting classifications of pathogenicity not specified
Kleefstra syndrome 1
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA205256 rs_574514175

5 SubmittersRCV000192432RCV000399265RCV001706167RCV002314813

NM_024757.5(EHMT1):c.905A>G (p.Lys302Arg) SNV
Germline
Chr9:137743452 Conflicting classifications of pathogenicity not specified
Kleefstra syndrome 1
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA208650 rs_565065320

7 SubmittersRCV000194465RCV000307829RCV001575368RCV002314814

NM_024757.5(EHMT1):c.1094A>G (p.Glu365Gly) SNV
Germline
Chr9:137744014 Conflicting classifications of pathogenicity not specified
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA208575 rs_797045552

2 SubmittersRCV000194417RCV001362501

NM_024757.5(EHMT1):c.2839G>A (p.Ala947Thr) SNV
Germline
Chr9:137811587 Conflicting classifications of pathogenicity not specified
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA205821 rs_797045555

3 SubmittersRCV000192769RCV001045045

NM_024757.5(EHMT1):c.3198C>T (p.Asp1066=) SNV
Germline
Chr9:137814448 Conflicting classifications of pathogenicity not specified
Kleefstra syndrome 1
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA209967 rs_367688971

4 SubmittersRCV000195269RCV000895300RCV001589067RCV002314812

NM_024757.5(EHMT1):c.3864C>T (p.Asp1288=) SNV
Germline
Chr9:137834920 Conflicting classifications of pathogenicity not specified
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA209801 rs_797045556

2 SubmittersRCV000195163RCV003609150

NM_024757.5(EHMT1):c.3413G>A (p.Trp1138Ter) SNV
Germline
Chr9:137817477 Pathogenic Autism spectrum disorder
Kleefstra syndrome 1
Criteria Provided
Single Submitter
CA10575851 rs_886037776

1 SubmittersRCV000241547

NM_024757.5(EHMT1):c.1307C>T (p.Pro436Leu) SNV
Germline
Chr9:137754229 Conflicting classifications of pathogenicity Inborn genetic diseases
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA358187 rs_869312936

3 SubmittersRCV000210678RCV001853375

NM_024757.5(EHMT1):c.437C>T (p.Ser146Leu) SNV
Germline
Chr9:137716977 Conflicting classifications of pathogenicity not specified
Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5374304 rs_142652443

3 SubmittersRCV000238613RCV000824396RCV004020980

NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter) SNV
Germline
Chr9:137728379 Pathogenic/Likely pathogenic Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA10586144 rs_879255531

3 SubmittersRCV000239430RCV000478780

NM_024757.5(EHMT1):c.2867+5G>A SNV
Germline
Chr9:137811620 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA10588474 rs_886039703

2 SubmittersRCV000255220RCV003144184

NM_024757.5(EHMT1):c.3310G>A (p.Glu1104Lys) SNV
Germline
Chr9:137815998 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Multiple Submitters
No Conflicts
CA10602698 rs_886041093

2 SubmittersRCV000258918

NM_024757.5(EHMT1):c.2704C>T (p.Arg902Ter) SNV
Germline
Chr9:137800976 Pathogenic Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA10603028 rs_886041844

4 SubmittersRCV000336966RCV001808728

NM_024757.5(EHMT1):c.3094G>A (p.Glu1032Lys) SNV
Germline
Chr9:137813444 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA5375164 rs_765569983

2 SubmittersRCV000346902RCV001238655

NM_024757.5(EHMT1):c.188C>T (p.Ala63Val) SNV
Germline
Chr9:137716728 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA5374205 rs_138292762

3 SubmittersRCV000342270RCV000541258

NM_024757.5(EHMT1):c.271A>T (p.Ile91Leu) SNV
Germline
Chr9:137716811 Conflicting classifications of pathogenicity not specified
Condition: not provided
Kleefstra syndrome 1
Inborn genetic diseases
EHMT1-related disorder
Criteria Provided
Conflicting Classifications
CA5374255 rs_144949902

7 SubmittersRCV000374563RCV000725447RCV001085933RCV002429220RCV003909961

NM_024757.5(EHMT1):c.1947G>A (p.Ser649=) SNV
Germline
Chr9:137776773 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Inborn genetic diseases
EHMT1-related disorder
Criteria Provided
Conflicting Classifications
CA5374759 rs_139206060

5 SubmittersRCV000271939RCV000401622RCV002314021RCV003920105

NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu) SNV
Germline
Chr9:137744055 Conflicting classifications of pathogenicity not specified
Condition: not provided
Kleefstra syndrome 1
Intellectual disability
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5374504 rs_146711478

7 SubmittersRCV000346698RCV000725838RCV001055403RCV001252236RCV004021201

NM_024757.5(EHMT1):c.32C>T (p.Ala11Val) SNV
Germline
Chr9:137710977 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Inborn genetic diseases
EHMT1-related disorder
Criteria Provided
Conflicting Classifications
CA5374115 rs_200636818

6 SubmittersRCV000275935RCV000638402RCV002519281RCV003909997

NM_024757.5(EHMT1):c.1160G>A (p.Arg387His) SNV
Germline
Chr9:137744080 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Inborn genetic diseases
EHMT1-related disorder
Criteria Provided
Conflicting Classifications
CA5374512 rs_776502547

4 SubmittersRCV000266814RCV001568167RCV002524595RCV003422373

NM_024757.5(EHMT1):c.1181A>C (p.Glu394Ala) SNV
Germline
Chr9:137752341 Conflicting classifications of pathogenicity Kleefstra syndrome 1 Criteria Provided
Conflicting Classifications
CA5374537 rs_773281152

2 SubmittersRCV000371414

NM_024757.5(EHMT1):c.1148C>T (p.Ser383Leu) SNV
Germline
Chr9:137744068 Conflicting classifications of pathogenicity Kleefstra syndrome 1 Criteria Provided
Conflicting Classifications
CA5374508 rs_771654748

2 SubmittersRCV000320747

NM_024757.5(EHMT1):c.150G>A (p.Ala50=) SNV
Germline
Chr9:137716690 Conflicting classifications of pathogenicity Kleefstra syndrome 1
not specified
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5374192 rs_371344592

4 SubmittersRCV000392911RCV000500483RCV001706609RCV002314102

NM_024757.5(EHMT1):c.3894A>G (p.Leu1298=) SNV
Germline
Chr9:137834950 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10633372 rs_886063743

2 SubmittersRCV000292596RCV000659140

NM_024757.5(EHMT1):c.1647+2T>C SNV
Unknown
Chr9:137762822 Pathogenic/Likely pathogenic 6 conditions
Kleefstra syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA16043441 rs_1057518913

2 SubmittersRCV000414996RCV000856744

NM_024757.5(EHMT1):c.2712+1G>A SNV
Germline
Chr9:137800985 Pathogenic Difficulty walking
Abnormal facial shape
Polymicrogyria
Global developmental delay
Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA16043442 rs_1057518849

9 SubmittersRCV000415193RCV000521222RCV001007951

NM_024757.5(EHMT1):c.1816G>A (p.Glu606Lys) SNV
Germline
Chr9:137776642 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA5374744 rs_369492404

2 SubmittersRCV000484194RCV003502529

NM_024757.5(EHMT1):c.358A>G (p.Ile120Val) SNV
Germline
Chr9:137716898 Conflicting classifications of pathogenicity not specified
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA201801999 rs_369253537

2 SubmittersRCV000502447RCV002527245

NM_024757.5(EHMT1):c.2755G>A (p.Val919Met) SNV
Germline
Chr9:137811503 Conflicting classifications of pathogenicity not specified
Condition: not provided
Kleefstra syndrome 1
EHMT1-related disorder
Criteria Provided
Conflicting Classifications
CA5375052 rs_749976725

4 SubmittersRCV000500187RCV002060111RCV001857093RCV003403164

NM_024757.5(EHMT1):c.3374+9C>G SNV
Germline
Chr9:137816071 Conflicting classifications of pathogenicity not specified
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA5375273 rs_765227211

2 SubmittersRCV000503343RCV002060110

NM_170606.3(KMT2C):c.7550C>G (p.Ser2517Ter) SNV
Germline
Chr7:152177903 Likely pathogenic Kleefstra syndrome 2 Criteria Provided
Single Submitter
CA370086478 rs_779659766

2 SubmittersRCV000515489

NM_170606.3(KMT2C):c.1690A>T (p.Lys564Ter) SNV
Germline
Chr7:152250898 Likely pathogenic Kleefstra syndrome 2 Criteria Provided
Single Submitter
CA370083941 rs_1554580083

2 SubmittersRCV000515504

NM_024757.5(EHMT1):c.1433G>A (p.Gly478Glu) SNV
Germline
Chr9:137757943 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5374623 rs_376787713

4 SubmittersRCV000534589RCV002395355

NM_024757.5(EHMT1):c.3304A>G (p.Ile1102Val) SNV
Germline
Chr9:137815992 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5375257 rs_752508274

2 SubmittersRCV000546811RCV002280126

NM_024757.5(EHMT1):c.508C>T (p.Gln170Ter) SNV
Germline
Chr9:137717048 Pathogenic Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA375765468 rs_1554846766

4 SubmittersRCV000579181RCV002529047

NM_024757.5(EHMT1):c.3259-1G>A SNV
Germline
Chr9:137815946 Pathogenic/Likely pathogenic Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA375796025 rs_1554897763

2 SubmittersRCV000578826RCV002530372

NM_024757.5(EHMT1):c.2961C>T (p.Ser987=) SNV
Germline
Chr9:137813099 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA201843263 rs_781254508

2 SubmittersRCV000585178RCV002061968

NM_024757.5(EHMT1):c.3322G>A (p.Ala1108Thr) SNV
Germline
Chr9:137816010 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA5375260 rs_199780189

3 SubmittersRCV000593453RCV000764827

NM_024757.5(EHMT1):c.2442C>T (p.Ala814=) SNV
Germline
Chr9:137790907 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Inborn genetic diseases
EHMT1-related disorder
Criteria Provided
Conflicting Classifications
CA5374947 rs_772286870

5 SubmittersRCV000596195RCV001084102RCV002456297RCV003905517

NM_024757.5(EHMT1):c.390G>A (p.Pro130=) SNV
Germline
Chr9:137716930 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA5374293 rs_144323841

3 SubmittersRCV000597175RCV001514188

NM_024757.5(EHMT1):c.3180+5G>A SNV
Germline
Chr9:137813535 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA591251898 rs_377628279

2 SubmittersRCV000599101RCV002532702

NM_024757.5(EHMT1):c.2516G>T (p.Gly839Val) SNV
Germline
Chr9:137798823 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Multiple Submitters
No Conflicts
CA375787968 rs_1554888939

2 SubmittersRCV000625971

NM_024757.5(EHMT1):c.1588C>T (p.Arg530Ter) SNV
Germline
Chr9:137762761 Pathogenic Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA375769349 rs_1554871138

4 SubmittersRCV000627279RCV001775139

NM_024757.5(EHMT1):c.376A>G (p.Ile126Val) SNV
Germline
Chr9:137716916 Conflicting classifications of pathogenicity Kleefstra syndrome 1 Criteria Provided
Conflicting Classifications
CA5374289 rs_773781896

2 SubmittersRCV000638394

NM_024757.5(EHMT1):c.23C>T (p.Ala8Val) SNV
Germline
Chr9:137710968 Conflicting classifications of pathogenicity Kleefstra syndrome 1 Criteria Provided
Conflicting Classifications
CA5374110 rs_375391530

2 SubmittersRCV000638400

NM_024757.5(EHMT1):c.1081G>A (p.Gly361Ser) SNV
Germline
Chr9:137744001 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA5374494 rs_143891279

4 SubmittersRCV000638392RCV001570452RCV001816584

NM_024757.5(EHMT1):c.1140G>C (p.Glu380Asp) SNV
Germline
Chr9:137744060 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Intellectual disability
Condition: not provided
Inborn genetic diseases
EHMT1-related disorder
Criteria Provided
Conflicting Classifications
CA5374505 rs_368995503

7 SubmittersRCV000638391RCV001252232RCV001591423RCV002458028RCV003937922

NM_024757.5(EHMT1):c.38G>A (p.Gly13Glu) SNV
Germline
Chr9:137710983 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA201796695 rs_925532395

2 SubmittersRCV000638396RCV003318613

NM_024757.5(EHMT1):c.268C>T (p.Arg90Trp) SNV
Germline
Chr9:137716808 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_568424578

2 SubmittersRCV000706568RCV002311992

NM_024757.5(EHMT1):c.92C>T (p.Pro31Leu) SNV
Germline
Chr9:137716632 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_769561363

3 SubmittersRCV000704822RCV001092467RCV002533720

NM_024757.5(EHMT1):c.755C>G (p.Pro252Arg) SNV
Germline
Chr9:137728461 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_775614771

3 SubmittersRCV000695118RCV003322810RCV004025229

NM_024757.5(EHMT1):c.3294G>T (p.Glu1098Asp) SNV
Germline
Chr9:137815982 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_911814791

2 SubmittersRCV000686063RCV004026222

NM_024757.5(EHMT1):c.184G>A (p.Asp62Asn) SNV
Germline
Chr9:137716724 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_112003143

3 SubmittersRCV000700144RCV001563033

NM_024757.5(EHMT1):c.1814C>T (p.Pro605Leu) SNV
Germline
Chr9:137776640 Conflicting classifications of pathogenicity Kleefstra syndrome 1 Criteria Provided
Conflicting Classifications
rs_373640528

2 SubmittersRCV000688004

NM_024757.5(EHMT1):c.3046C>T (p.Arg1016Ter) SNV
Germline
Chr9:137813396 Pathogenic Kleefstra syndrome 1
Condition: not provided
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
rs_1429360126

5 SubmittersRCV000686881RCV001724136RCV002547107

NM_024757.5(EHMT1):c.3818G>A (p.Arg1273His) SNV
Germline
Chr9:137834874 Conflicting classifications of pathogenicity Kleefstra syndrome 1
EHMT1-related disorder
Criteria Provided
Conflicting Classifications
rs_1564847357

2 SubmittersRCV001471115RCV003392538

NM_024757.5(EHMT1):c.1231G>A (p.Gly411Ser) SNV
Germline
Chr9:137752391 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_754380060

2 SubmittersRCV001445722RCV002315463

NM_024757.5(EHMT1):c.463C>G (p.Leu155Val) SNV
Germline
Chr9:137717003 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_1003872402

3 SubmittersRCV001370329RCV002312275

NM_024757.5(EHMT1):c.713A>G (p.Asn238Ser) SNV
Germline
Chr9:137728419 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_1004363452

3 SubmittersRCV001235761RCV002315375

NM_024757.5(EHMT1):c.2026G>A (p.Gly676Arg) SNV
Germline
Chr9:137777889 Conflicting classifications of pathogenicity not specified
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
rs_757416132

3 SubmittersRCV000736114RCV000793881

NM_024757.5(EHMT1):c.1249-2A>G SNV
Germline
Chr9:137754169 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV000760187

NM_024757.5(EHMT1):c.149C>T (p.Ala50Val) SNV
Germline
Chr9:137716689 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Inborn genetic diseases
EHMT1-related disorder
Criteria Provided
Conflicting Classifications
rs_143155406

5 SubmittersRCV000817768RCV001534159RCV002390668RCV003955527

NM_024757.5(EHMT1):c.2927T>G (p.Leu976Arg) SNV
Germline
Chr9:137813065 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_147956904

4 SubmittersRCV000810592RCV002440746RCV003318642

NM_024757.5(EHMT1):c.3375G>C (p.Arg1125Ser) SNV
Germline
Chr9:137817439 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_764006601

6 SubmittersRCV000820474RCV002537472RCV001528830

NM_024757.5(EHMT1):c.2566C>T (p.Gln856Ter) SNV
Germline
Chr9:137798873 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
rs_1588770875

1 SubmittersRCV000825019

NM_170606.3(KMT2C):c.2961C>G (p.Tyr987Ter) SNV
Germline
Chr7:152229938 Conflicting classifications of pathogenicity Cerebellar atrophy
Global developmental delay
Kleefstra syndrome 2
Kleefstra syndrome 2
Criteria Provided
Conflicting Classifications
rs_58528565

2 SubmittersRCV000856681RCV001193315

NM_024757.5(EHMT1):c.3632G>A (p.Arg1211His) SNV
Germline
Chr9:137834440 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_751046687

2 SubmittersRCV000953841RCV002255171

NM_024757.5(EHMT1):c.3252C>G (p.Tyr1084Ter) SNV
Unknown
Chr9:137814502 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
rs_368087892

1 SubmittersRCV000988317

NM_024757.5(EHMT1):c.3709C>T (p.Gln1237Ter) SNV
Unknown
Chr9:137834517 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
rs_1325669112

1 SubmittersRCV000988318

NM_024757.5(EHMT1):c.2187G>A (p.Ser729=) SNV
Germline
Chr9:137778050 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_753928723

2 SubmittersRCV001313353RCV000999301

NM_024757.5(EHMT1):c.324C>G (p.His108Gln) SNV
Germline
Chr9:137716864 Conflicting classifications of pathogenicity Kleefstra syndrome 1 Criteria Provided
Conflicting Classifications
rs_574402576

2 SubmittersRCV001034476

NM_024757.5(EHMT1):c.2803G>A (p.Val935Met) SNV
Germline
Chr9:137811551 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Intellectual disability
Criteria Provided
Conflicting Classifications
rs_762121901

3 SubmittersRCV001034506RCV001252234

NM_024757.5(EHMT1):c.3266G>A (p.Arg1089Gln) SNV
Germline
Chr9:137815954 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_1039353637

2 SubmittersRCV001033986RCV001772203

NM_024757.5(EHMT1):c.1204G>A (p.Val402Met) SNV
Germline
Chr9:137752364 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_369984436

2 SubmittersRCV001039619RCV003332286

NM_024757.5(EHMT1):c.1647A>C (p.Glu549Asp) SNV
Germline
Chr9:137762820 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_779709777

2 SubmittersRCV001048884RCV001593219

NM_024757.5(EHMT1):c.3659G>A (p.Arg1220Gln) SNV
Germline
Chr9:137834467 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_761138496

3 SubmittersRCV001058816RCV001593233RCV002553848

NM_024757.5(EHMT1):c.592G>A (p.Val198Ile) SNV
Germline
Chr9:137717132 Conflicting classifications of pathogenicity Kleefstra syndrome 1 Criteria Provided
Conflicting Classifications
rs_761554206

2 SubmittersRCV001198099

NM_024757.5(EHMT1):c.736C>T (p.Arg246Ter) SNV
Germline
Chr9:137728442 Pathogenic/Likely pathogenic Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_1474604202

3 SubmittersRCV001195946RCV003227006

NM_024757.5(EHMT1):c.1311G>A (p.Trp437Ter) SNV
Germline
Chr9:137754233 Pathogenic/Likely pathogenic Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
rs_1949206105

2 SubmittersRCV001199026RCV003163501

NM_024757.5(EHMT1):c.82G>C (p.Glu28Gln) SNV
Germline
Chr9:137711027 Conflicting classifications of pathogenicity Kleefstra syndrome 1
See cases
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
rs_1342402816

5 SubmittersRCV001217725RCV002252332RCV001773485RCV002249809

NM_024757.5(EHMT1):c.505C>T (p.Pro169Ser) SNV
Germline
Chr9:137717045 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_770718072

2 SubmittersRCV001224363RCV002305576

NM_024757.5(EHMT1):c.1213G>A (p.Gly405Arg) SNV
Germline
Chr9:137752373 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_766828352

2 SubmittersRCV001217486RCV002356925

NM_024757.5(EHMT1):c.2110C>T (p.Leu704Phe) SNV
Germline
Chr9:137777973 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_866512456

3 SubmittersRCV001217116RCV002418746

NM_024757.5(EHMT1):c.44C>T (p.Pro15Leu) SNV
Germline
Chr9:137710989 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_1389665235

2 SubmittersRCV001213693RCV002469354

NM_024757.5(EHMT1):c.2992T>G (p.Ser998Ala) SNV
Germline
Chr9:137813130 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_1330826129

2 SubmittersRCV001202374RCV004033532

NM_024757.5(EHMT1):c.2608-1G>A SNV
Germline
Chr9:137800879 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
rs_1588784791

1 SubmittersRCV001209181

NM_024757.5(EHMT1):c.334G>A (p.Asp112Asn) SNV
Germline
Chr9:137716874 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_763562241

2 SubmittersRCV001237102RCV002563880

NM_024757.5(EHMT1):c.2385G>A (p.Ala795=) SNV
Germline
Chr9:137790850 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_1425514936

2 SubmittersRCV001230719RCV002451543

NM_024757.5(EHMT1):c.216C>A (p.His72Gln) SNV
Germline
Chr9:137716756 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_374930132

3 SubmittersRCV001248374RCV002430051

NM_170606.3(KMT2C):c.12415C>T (p.Arg4139Ter) SNV
Germline
Chr7:152152816 Pathogenic Kleefstra syndrome 2 No Assertion Criteria Provided
rs_2091742405

1 SubmittersRCV001251813

NM_024757.5(EHMT1):c.3343T>G (p.Cys1115Gly) SNV
Germline
Chr9:137816031 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
rs_1954891050

1 SubmittersRCV001258341

NM_024757.5(EHMT1):c.2018+1G>C SNV
Germline
Chr9:137776845 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
rs_1950997931

1 SubmittersRCV001263214

NM_024757.5(EHMT1):c.3578G>A (p.Gly1193Glu) SNV
Germline
Chr9:137834386 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
rs_1956451830

1 SubmittersRCV001260911

NM_024757.5(EHMT1):c.2530C>T (p.His844Tyr) SNV
Unknown
Chr9:137798837 Likely pathogenic Kleefstra syndrome 1 No Assertion Criteria Provided
rs_1953188177

1 SubmittersRCV001261280

NM_170606.3(KMT2C):c.11651C>T (p.Thr3884Met) SNV
Germline
Chr7:152158882 Conflicting classifications of pathogenicity Kleefstra syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_140246095

2 SubmittersRCV001262464RCV001880041

NM_170606.3(KMT2C):c.7207C>T (p.Arg2403Ter) SNV
Germline
Chr7:152180069 Conflicting classifications of pathogenicity Kleefstra syndrome 2
Neurodevelopmental delay
Criteria Provided
Conflicting Classifications
rs_767365126

2 SubmittersRCV001262510RCV002274171

NM_170606.3(KMT2C):c.13334G>A (p.Gly4445Asp) SNV
Germline
Chr7:152148593 Likely pathogenic Kleefstra syndrome 2 Criteria Provided
Single Submitter
rs_2091357682

1 SubmittersRCV003323837

NM_024757.5(EHMT1):c.3462-1G>A SNV
Germline
Chr9:137818059 Pathogenic Kleefstra syndrome 1 No Assertion Criteria Provided
rs_1955068468

1 SubmittersRCV001264758

NM_024757.5(EHMT1):c.199G>C (p.Ala67Pro) SNV
Germline
Chr9:137716739 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_764527438

2 SubmittersRCV001297976RCV003148976

NM_024757.5(EHMT1):c.1511A>G (p.Asn504Ser) SNV
Germline
Chr9:137762684 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_778447794

2 SubmittersRCV001304432RCV001815536

NM_170606.3(KMT2C):c.13198C>T (p.Arg4400Trp) SNV
Germline
Chr7:152148729 Conflicting classifications of pathogenicity Kleefstra syndrome 2
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_144905657

2 SubmittersRCV001335514RCV002547340

NM_024757.5(EHMT1):c.110G>A (p.Gly37Asp) SNV
Germline
Chr9:137716650 Conflicting classifications of pathogenicity Kleefstra syndrome 1 Criteria Provided
Conflicting Classifications
rs_1300327079

2 SubmittersRCV001333220

NM_024757.5(EHMT1):c.1319C>T (p.Pro440Leu) SNV
Germline
Chr9:137754241 Conflicting classifications of pathogenicity Kleefstra syndrome 1 Criteria Provided
Conflicting Classifications
rs_146814571

2 SubmittersRCV001333221

NM_024757.5(EHMT1):c.485G>T (p.Gly162Val) SNV
Germline
Chr9:137717025 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_769036698

2 SubmittersRCV001341189RCV002546926

NM_024757.5(EHMT1):c.2356G>A (p.Val786Met) SNV
Germline
Chr9:137782371 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_398124405

2 SubmittersRCV001350973RCV002447435

NM_024757.5(EHMT1):c.1502-2A>G SNV
Germline
Chr9:137762673 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
rs_2136355927

1 SubmittersRCV001353178

NM_024757.5(EHMT1):c.716A>G (p.Lys239Arg) SNV
Germline
Chr9:137728422 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_778733047

2 SubmittersRCV001359737RCV002377510

NM_024757.5(EHMT1):c.1493A>G (p.Gln498Arg) SNV
Germline
Chr9:137758003 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
rs_1949510530

2 SubmittersRCV001558397RCV001882645

NM_024757.5(EHMT1):c.13G>A (p.Asp5Asn) SNV
Germline
Chr9:137619041 Conflicting classifications of pathogenicity Condition: not provided
not specified
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
rs_1050977100

3 SubmittersRCV001570910RCV003399380RCV003609185

NM_024757.5(EHMT1):c.3599A>G (p.Asn1200Ser) SNV
Germline
Chr9:137834407 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
rs_201181085

2 SubmittersRCV001583717RCV002571168

NM_024757.5(EHMT1):c.3329C>T (p.Ser1110Phe) SNV
Germline
Chr9:137816017 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
EHMT1-related disorder
Criteria Provided
Conflicting Classifications
rs_780102096

3 SubmittersRCV001653007RCV002073050RCV003401564

NM_024757.5(EHMT1):c.3459C>T (p.Cys1153=) SNV
Germline
Chr9:137817523 Conflicting classifications of pathogenicity Kleefstra syndrome 1
EHMT1-related disorder
Criteria Provided
Conflicting Classifications
rs_2132793967

3 SubmittersRCV001726715RCV003941106

NM_024757.5(EHMT1):c.101C>T (p.Ala34Val) SNV
Germline
Chr9:137716641 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
rs_546468286

2 SubmittersRCV001733266RCV002073978

NM_024757.5(EHMT1):c.1883C>T (p.Pro628Leu) SNV
Germline
Chr9:137776709 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
rs_1399162372

2 SubmittersRCV001767394RCV001868474

NM_024757.5(EHMT1):c.497G>A (p.Ser166Asn) SNV
Germline
Chr9:137717037 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
rs_778503301

3 SubmittersRCV001768979RCV002544123RCV002544124

NM_024757.5(EHMT1):c.2791G>A (p.Asp931Asn) SNV
Germline
Chr9:137811539 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
rs_745973990

2 SubmittersRCV001773023RCV003502602

NM_170606.3(KMT2C):c.11812+2T>C SNV
Unknown
Chr7:152156203 Likely pathogenic Kleefstra syndrome 2 Criteria Provided
Single Submitter
rs_2129099779

1 SubmittersRCV001775387

NM_170606.3(KMT2C):c.3599C>G (p.Ser1200Ter) SNV
Germline
Chr7:152220636 Likely pathogenic Kleefstra syndrome 2 Criteria Provided
Single Submitter
rs_2129145649

1 SubmittersRCV001782352

NM_170606.3(KMT2C):c.8471C>T (p.Thr2824Met) SNV
Germline
Chr7:152176982 Conflicting classifications of pathogenicity Kleefstra syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_780982767

2 SubmittersRCV001785198RCV002541229

NM_024757.5(EHMT1):c.3422G>A (p.Arg1141Gln) SNV
Germline
Chr9:137817486 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
rs_745374795

2 SubmittersRCV001810372RCV001885283

NM_170606.3(KMT2C):c.6925C>T (p.Gln2309Ter) SNV
Germline
Chr7:152180935 Likely pathogenic Kleefstra syndrome 2 Criteria Provided
Single Submitter
rs_2129119384

1 SubmittersRCV001807986

NM_024757.5(EHMT1):c.2010A>T (p.Thr670=) SNV
Germline
Chr9:137776836 Conflicting classifications of pathogenicity not specified
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
rs_370681959

2 SubmittersRCV001817489RCV002542000

NM_024757.5(EHMT1):c.2382+1G>A SNV
Germline
Chr9:137782398 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
rs_2136894487

1 SubmittersRCV001823438

NM_170606.3(KMT2C):c.9973A>T (p.Ser3325Cys) SNV
Germline
Chr7:152163604 Conflicting classifications of pathogenicity Kleefstra syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_778808532

2 SubmittersRCV001839248RCV002542830

NM_170606.3(KMT2C):c.6604C>A (p.Pro2202Thr) SNV
Germline
Chr7:152181256 Conflicting classifications of pathogenicity Kleefstra syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_760297553

2 SubmittersRCV001839291RCV002034710

NM_024757.5(EHMT1):c.3393C>A (p.Tyr1131Ter) SNV
Germline
Chr9:137817457 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
rs_2132792568

1 SubmittersRCV001900886

NM_170606.3(KMT2C):c.10270G>A (p.Ala3424Thr) SNV
Germline
Chr7:152163307 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 2
Criteria Provided
Conflicting Classifications
rs_776155729

2 SubmittersRCV001998170RCV003130647

NM_170606.3(KMT2C):c.9823A>G (p.Met3275Val) SNV
Germline
Chr7:152163754 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 2
Criteria Provided
Conflicting Classifications
rs_182795390

2 SubmittersRCV001999597RCV003134342

NM_024757.5(EHMT1):c.510G>T (p.Gln170His) SNV
Germline
Chr9:137717050 Conflicting classifications of pathogenicity Kleefstra syndrome 1 Criteria Provided
Conflicting Classifications
rs_1308431693

2 SubmittersRCV001936807

NM_024757.5(EHMT1):c.3850G>A (p.Asp1284Asn) SNV
Germline
Chr9:137834906 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_1193875824

2 SubmittersRCV002014426RCV002361396

NM_024757.5(EHMT1):c.3752G>T (p.Gly1251Val) SNV
Germline
Chr9:137834808 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_1302317350

2 SubmittersRCV001901984RCV002361115

NM_170606.3(KMT2C):c.53C>T (p.Pro18Leu) SNV
Germline
Chr7:152435734 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 2
Criteria Provided
Conflicting Classifications
rs_758889240

2 SubmittersRCV002015640RCV003134337

NM_170606.3(KMT2C):c.5957G>A (p.Arg1986Gln) SNV
Germline
Chr7:152181903 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 2
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_138373177

3 SubmittersRCV001897422RCV003134188RCV002553443

NM_170606.3(KMT2C):c.12194C>T (p.Ala4065Val) SNV
Germline
Chr7:152154092 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 2
Criteria Provided
Conflicting Classifications
rs_141966811

2 SubmittersRCV001989110RCV002486570

NM_170606.3(KMT2C):c.7372T>C (p.Phe2458Leu) SNV
Germline
Chr7:152179904 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 2
Criteria Provided
Conflicting Classifications
rs_375555515

2 SubmittersRCV001941467RCV003134283

NM_170606.3(KMT2C):c.5851G>A (p.Asp1951Asn) SNV
Germline
Chr7:152182009 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 2
not specified
Criteria Provided
Conflicting Classifications
rs_781220804

3 SubmittersRCV001883852RCV002490100RCV003120736

NM_024757.5(EHMT1):c.3482C>G (p.Ser1161Ter) SNV
Germline
Chr9:137818080 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
rs_2132809199

1 SubmittersRCV001891292

NM_024757.5(EHMT1):c.161C>T (p.Thr54Ile) SNV
Germline
Chr9:137716701 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_757663357

2 SubmittersRCV001952834RCV002397953

NM_024757.5(EHMT1):c.784C>T (p.Gln262Ter) SNV
Germline
Chr9:137728490 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
rs_2135784846

1 SubmittersRCV002039841

NM_024757.5(EHMT1):c.188C>G (p.Ala63Gly) SNV
Germline
Chr9:137716728 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_138292762

2 SubmittersRCV002132997RCV003227063

NM_024757.5(EHMT1):c.2443G>A (p.Glu815Lys) SNV
Germline
Chr9:137790908 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_1443023108

2 SubmittersRCV002190545RCV002561577

NM_024757.5(EHMT1):c.505C>G (p.Pro169Ala) SNV
Germline
Chr9:137717045 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_770718072

2 SubmittersRCV002190722RCV002561587

NM_170606.3(KMT2C):c.12444G>T (p.Pro4148=) SNV
Germline
Chr7:152152787 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 2
Criteria Provided
Conflicting Classifications
rs_147957197

3 SubmittersRCV002188376RCV003134397

NM_024757.5(EHMT1):c.2713-3C>G SNV
Germline
Chr9:137811458 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_2137670642

2 SubmittersRCV002134780RCV002243523

NM_024757.5(EHMT1):c.391G>C (p.Ala131Pro) SNV
Germline
Chr9:137716931 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_990229301

3 SubmittersRCV002075773RCV002372898RCV002508339

NM_170606.3(KMT2C):c.3619A>G (p.Lys1207Glu) SNV
Germline
Chr7:152220616 Likely pathogenic Kleefstra syndrome 2 Criteria Provided
Single Submitter
rs_2129145634

1 SubmittersRCV002226822

NM_024757.5(EHMT1):c.2018+1G>A SNV
Germline
Chr9:137776845 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
rs_1950997931

1 SubmittersRCV002249930

NM_024757.5(EHMT1):c.3310G>T (p.Glu1104Ter) SNV
Germline
Chr9:137815998 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
rs_886041093

1 SubmittersRCV002249931

NM_024757.5(EHMT1):c.3398C>T (p.Thr1133Met) SNV
Germline
Chr9:137817462 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
rs_754986694

2 SubmittersRCV002247212RCV003094062

NM_024757.5(EHMT1):c.3212G>C (p.Ser1071Thr) SNV
Germline
Chr9:137814462 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
rs_1427438113

3 SubmittersRCV002269755RCV003096103RCV003096104

NM_170606.3(KMT2C):c.5419C>T (p.Gln1807Ter) SNV
Germline
Chr7:152182441 Pathogenic Kleefstra syndrome 2 Criteria Provided
Single Submitter
rs_2129121010

1 SubmittersRCV002273263

NM_170606.3(KMT2C):c.6769C>T (p.Arg2257Ter) SNV
Germline
Chr7:152181091 Likely pathogenic Kleefstra syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV002283989

NM_024757.5(EHMT1):c.2574G>A (p.Leu858=) SNV
Germline
Chr9:137798881 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications

2 SubmittersRCV002290919RCV003609201

NM_170606.3(KMT2C):c.12666+1G>A SNV
Germline
Chr7:152151441 Likely pathogenic Kleefstra syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV002290363

NM_024757.5(EHMT1):c.755C>A (p.Pro252His) SNV
Germline
Chr9:137728461 Conflicting classifications of pathogenicity Inborn genetic diseases
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications

3 SubmittersRCV002394007RCV003146548

NM_024757.5(EHMT1):c.3332G>C (p.Cys1111Ser) SNV
Germline
Chr9:137816020 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV002465442

NM_024757.5(EHMT1):c.2525G>A (p.Cys842Tyr) SNV
Germline
Chr9:137798832 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV002471975

NM_024757.5(EHMT1):c.3853G>C (p.Gly1285Arg) SNV
Germline
Chr9:137834909 Conflicting classifications of pathogenicity Kleefstra syndrome 1 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003093519

NM_024757.5(EHMT1):c.496A>G (p.Ser166Gly) SNV
Germline
Chr9:137717036 Conflicting classifications of pathogenicity Kleefstra syndrome 1
EHMT1-related disorder
Criteria Provided
Conflicting Classifications

2 SubmittersRCV002612521RCV003395619

NM_024757.5(EHMT1):c.1170+2T>C SNV
Germline
Chr9:137744092 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV002651008

NM_024757.5(EHMT1):c.1877A>G (p.Tyr626Cys) SNV
Germline
Chr9:137776703 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV002580816RCV003439027

NM_024757.5(EHMT1):c.1370-1G>C SNV
Germline
Chr9:137757879 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV002662530

NM_024757.5(EHMT1):c.425C>T (p.Thr142Ile) SNV
Germline
Chr9:137716965 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV002715975RCV003318730

NM_024757.5(EHMT1):c.1448C>G (p.Ser483Cys) SNV
Germline
Chr9:137757958 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV002776182RCV004064759

NM_024757.5(EHMT1):c.563A>G (p.Asp188Gly) SNV
Germline
Chr9:137717103 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV002811543RCV004064912

NM_024757.5(EHMT1):c.1058C>G (p.Ser353Ter) SNV
Germline
Chr9:137743978 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV002872122

NM_024757.5(EHMT1):c.1069G>A (p.Glu357Lys) SNV
Germline
Chr9:137743989 Conflicting classifications of pathogenicity Kleefstra syndrome 1
not specified
Criteria Provided
Conflicting Classifications

2 SubmittersRCV002882323RCV004526209

NM_024757.5(EHMT1):c.643-1G>A SNV
Germline
Chr9:137728348 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV002907931

NM_024757.5(EHMT1):c.3313T>C (p.Cys1105Arg) SNV
Germline
Chr9:137816001 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV002904576

NM_170606.3(KMT2C):c.12443C>T (p.Pro4148Leu) SNV
Germline
Chr7:152152788 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Kleefstra syndrome 2
KMT2C-related disorder
Criteria Provided
Conflicting Classifications

4 SubmittersRCV002943626RCV002966259RCV003134559RCV004536484

NM_024757.5(EHMT1):c.2505+1G>A SNV
Germline
Chr9:137790971 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV003018269

NM_024757.5(EHMT1):c.1502-5G>T SNV
Germline
Chr9:137762670 Conflicting classifications of pathogenicity Inborn genetic diseases
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications

2 SubmittersRCV002859962RCV003609252

NM_170606.3(KMT2C):c.5716C>T (p.Arg1906Ter) SNV
Germline
Chr7:152182144 Pathogenic Kleefstra syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV003128009

NM_170606.3(KMT2C):c.6308C>G (p.Pro2103Arg) SNV
Germline
Chr7:152181552 Conflicting classifications of pathogenicity Kleefstra syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV003142601RCV003565620

NM_170606.3(KMT2C):c.5536G>A (p.Val1846Met) SNV
Germline
Chr7:152182324 Conflicting classifications of pathogenicity Kleefstra syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV003131385RCV003778721

NM_170606.3(KMT2C):c.7133C>G (p.Thr2378Arg) SNV
Germline
Chr7:152180727 Conflicting classifications of pathogenicity Kleefstra syndrome 2
Condition: not provided
KMT2C-related disorder
Criteria Provided
Conflicting Classifications

3 SubmittersRCV003131391RCV003778722RCV004529242

NM_170606.3(KMT2C):c.8849A>G (p.His2950Arg) SNV
Germline
Chr7:152176604 Conflicting classifications of pathogenicity Kleefstra syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV003133930RCV003778723

NM_170606.3(KMT2C):c.13894+2T>G SNV
Germline
Chr7:152148031 Likely pathogenic Kleefstra syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV003149140

NM_024757.5(EHMT1):c.3461+1G>C SNV
Germline
Chr9:137817526 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV003214124

NM_024757.5(EHMT1):c.2618G>T (p.Gly873Val) SNV
Germline
Chr9:137800890 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV003234810

NM_024757.5(EHMT1):c.3239T>C (p.Met1080Thr) SNV
Germline
Chr9:137814489 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV003314115

NM_170606.3(KMT2C):c.4845G>A (p.Trp1615Ter) SNV
Germline
Chr7:152187425 Pathogenic Kleefstra syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV003314517

NM_024757.5(EHMT1):c.744G>C (p.Gln248His) SNV
Germline
Chr9:137728450 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications

2 SubmittersRCV003329026RCV003777376

NM_170606.3(KMT2C):c.9262+1G>A SNV
Germline
Chr7:152176190 Likely pathogenic Kleefstra syndrome 2 No Assertion Criteria Provided

1 SubmittersRCV003388246

NM_024757.5(EHMT1):c.1486T>C (p.Ser496Pro) SNV
Germline
Chr9:137757996 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications

2 SubmittersRCV003442393RCV003502736

NM_024757.5(EHMT1):c.3331T>A (p.Cys1111Ser) SNV
Germline
Chr9:137816019 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV003444040

NM_170606.3(KMT2C):c.7258C>G (p.Leu2420Val) SNV
Germline
Chr7:152180018 Conflicting classifications of pathogenicity Kleefstra syndrome 2
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV003493056RCV004364887

NM_170606.3(KMT2C):c.5198C>T (p.Ser1733Leu) SNV
Germline
Chr7:152183041 Conflicting classifications of pathogenicity Kleefstra syndrome 2
KMT2C-related disorder
Criteria Provided
Conflicting Classifications

2 SubmittersRCV003493057RCV004540686

NM_024757.5(EHMT1):c.346C>T (p.Gln116Ter) SNV
Germline
Chr9:137716886 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV003610109

NM_024757.5(EHMT1):c.823+2T>G SNV
Germline
Chr9:137728531 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV003608724

NM_170606.3(KMT2C):c.749G>A (p.Trp250Ter) SNV
Unknown
Chr7:152310066 Likely pathogenic Kleefstra syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV003885420

NM_024757.5(EHMT1):c.3180+1G>A SNV
Germline
Chr9:137813531 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV003984988

NM_024757.5(EHMT1):c.2968C>T (p.Gln990Ter) SNV
Germline
Chr9:137813106 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV003988666

NM_024757.5(EHMT1):c.3036-1G>A SNV
Germline
Chr9:137813385 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV003990590

NM_170606.3(KMT2C):c.14068C>T (p.Arg4690Ter) SNV
Germline
Chr7:152145259 Likely pathogenic Kleefstra syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV004545935

NM_024757.5(EHMT1):c.2242C>T (p.Gln748Ter) SNV
Germline
Chr9:137779684 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004545965

NM_024757.5(EHMT1):c.2725T>C (p.Cys909Arg) SNV
Germline
Chr9:137811473 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004557281