Total 465 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 Pathogenic/Likely pathogenic Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA340098 rs_121918301

6 SubmittersRCV000003789RCV001579482

NM_024757.5(EHMT1):c.3218G>A (p.Cys1073Tyr) SNV
Germline
Chr9:137814468 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
CA340102 rs_137852726

3 SubmittersRCV000003791

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

6 SubmittersRCV000003792RCV005549904

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

8 SubmittersRCV000029189RCV001249678RCV000809546RCV002321487RCV001699182

NM_024757.5(EHMT1):c.1810C>T (p.Gln604Ter) SNV
Germline
Chr9:137776636 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
CA345050 rs_137852717

2 SubmittersRCV000055958

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

6 SubmittersRCV000055959RCV001268799

NM_024757.5(EHMT1):c.2193-1G>C SNV
Germline
Chr9:137779634 Pathogenic Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA345056 rs_137852720

3 SubmittersRCV000055961RCV000623370

NM_024757.5(EHMT1):c.2868-1G>A SNV
Germline
Chr9:137813005 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
CA345058 rs_137852722

2 SubmittersRCV000055963

NM_024757.5(EHMT1):c.3180+1G>T SNV
Germline
Chr9:137813531 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
CA345060 rs_137852724

2 SubmittersRCV000055965

NM_024757.5(EHMT1):c.3229C>T (p.Gln1077Ter) SNV
Germline
Chr9:137814479 Pathogenic Kleefstra syndrome 1 Criteria Provided
Multiple Submitters
No Conflicts
CA345061 rs_137852725

3 SubmittersRCV000055966

NM_024757.5(EHMT1):c.3589C>T (p.Arg1197Trp) SNV
Germline
Chr9:137834397 Pathogenic/Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Multiple Submitters
No Conflicts
CA345063 rs_137852727

4 SubmittersRCV000055967

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

4 SubmittersRCV000074464RCV000578504RCV004730871

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

5 SubmittersRCV000082217RCV000387937RCV002262626RCV003974986

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

3 SubmittersRCV000082222RCV001034502RCV004619199

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

5 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
EHMT1-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA223786 rs_35285441

5 SubmittersRCV000082243RCV000348835RCV003974987RCV004019575

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

6 SubmittersRCV000116959RCV000547981RCV002316302RCV003964980

NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu) SNV
Germline
Chr9:137790891 Pathogenic/Likely pathogenic Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA231085 rs_587780332

7 SubmittersRCV000116960RCV002528212

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

4 SubmittersRCV000116962RCV002321593RCV001089426

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

5 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

6 SubmittersRCV000121497RCV001251812RCV001854653RCV003133138RCV004530019

NM_170606.3(KMT2C):c.11173A>C (p.Thr3725Pro) SNV
Germline
Chr7:152162404 Conflicting classifications of pathogenicity not specified
Condition: not provided
Kleefstra syndrome 2
Criteria Provided
Conflicting Classifications
CA160743 rs_143269206

3 SubmittersRCV000121499RCV001854654RCV005042232

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
Condition: not provided
Kleefstra syndrome 2
Criteria Provided
Conflicting Classifications
CA160803 rs_370620314

3 SubmittersRCV000121530RCV001854659RCV003133140

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
EHMT1-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA241803 rs_373269573

7 SubmittersRCV000175948RCV000702204RCV000723953RCV003947492RCV002362893

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

4 SubmittersRCV000193096RCV000724554RCV000695929

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
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA243491 rs_759512176

4 SubmittersRCV000177337RCV002516737RCV005328222

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

5 SubmittersRCV000177339RCV002354457RCV001484691

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

9 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.2642C>T (p.Thr881Ile) SNV
Germline
Chr9:137800914 Conflicting classifications of pathogenicity not specified
Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA207397 rs_797045554

4 SubmittersRCV000193717RCV000764826RCV004767131

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 Kleefstra syndrome 1
Autism spectrum disorder
Criteria Provided
Single Submitter
CA10575851 rs_886037776

1 SubmittersRCV000241547

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

5 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 Pathogenic/Likely pathogenic Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA10602698 rs_886041093

5 SubmittersRCV000258918RCV005235248

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

5 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
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5374205 rs_138292762

4 SubmittersRCV000342270RCV000541258RCV004975389

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

8 SubmittersRCV000374563RCV001085933RCV000725447RCV003909961RCV002429220

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
Inborn genetic diseases
Intellectual disability
Criteria Provided
Conflicting Classifications
CA5374504 rs_146711478

8 SubmittersRCV000346698RCV000725838RCV001055403RCV004021201RCV001252236

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

7 SubmittersRCV000275935RCV005434766RCV000638402RCV003909997RCV002519281

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

5 SubmittersRCV000266814RCV001568167RCV003422373RCV002524595

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

3 SubmittersRCV000371414RCV005562351

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

3 SubmittersRCV000320747RCV005562350

NM_024757.5(EHMT1):c.3641T>C (p.Met1214Thr) SNV
Germline
Chr9:137834449 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5375405 rs_781134719

2 SubmittersRCV002028651RCV005552607

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

4 SubmittersRCV000392911RCV001706609RCV000500483RCV002314102

NM_024757.5(EHMT1):c.405G>T (p.Gln135His) SNV
Germline
Chr9:137716945 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Intellectual disability
Criteria Provided
Conflicting Classifications
CA5374299 rs_200982880

2 SubmittersRCV000377043RCV005625571

NM_024757.5(EHMT1):c.1931A>C (p.Lys644Thr) SNV
Germline
Chr9:137776757 Conflicting classifications of pathogenicity Kleefstra syndrome 1
not specified
Criteria Provided
Conflicting Classifications
CA5374758 rs_767536068

2 SubmittersRCV002210783RCV005406400

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 Polymicrogyria
Global developmental delay
Abnormal facial shape
Difficulty walking
Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA16043442 rs_1057518849

11 SubmittersRCV000415193RCV001007951RCV000521222

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

5 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_024757.5(EHMT1):c.824-1G>T SNV
Germline
Chr9:137743370 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome
Criteria Provided
Conflicting Classifications
CA375777446 rs_1354730657

2 SubmittersRCV000514510RCV005356045

NM_170606.3(KMT2C):c.7550C>G (p.Ser2517Ter) SNV
Germline
Chr7:152177903 Pathogenic/Likely pathogenic Kleefstra syndrome 2
KMT2C-related NDD
Criteria Provided
Multiple Submitters
No Conflicts
CA370086478 rs_779659766

3 SubmittersRCV000515489RCV004730969

NM_170606.3(KMT2C):c.1690A>T (p.Lys564Ter) SNV
Germline
Chr7:152250898 Pathogenic/Likely pathogenic Kleefstra syndrome 2
KMT2C-related NDD
Criteria Provided
Multiple Submitters
No Conflicts
CA370083941 rs_1554580083

3 SubmittersRCV000515504RCV004730970

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
Inborn genetic diseases
Kleefstra syndrome 1
EHMT1-related disorder
Criteria Provided
Conflicting Classifications
CA5374947 rs_772286870

5 SubmittersRCV000596195RCV002456297RCV001084102RCV003905517

NM_024757.5(EHMT1):c.3668G>A (p.Arg1223Gln) SNV
Germline
Chr9:137834476 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA5375411 rs_777746839

2 SubmittersRCV000598404RCV005056260

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.3346C>T (p.Arg1116Ter) SNV
Germline
Chr9:137816034 Pathogenic Inborn genetic diseases
Kleefstra syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA375796778 rs_749848324

2 SubmittersRCV000623269RCV004783824

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
not specified
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5374494 rs_143891279

5 SubmittersRCV000638392RCV001816584RCV001570452RCV005328340

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

7 SubmittersRCV000638391RCV001591423RCV001252232RCV002458028RCV003937922

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
CA5374251 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
CA5374170 rs_769561363

3 SubmittersRCV000704822RCV001092467RCV002533720

NM_024757.5(EHMT1):c.755C>G (p.Pro252Arg) SNV
Germline
Chr9:137728461 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375772176 rs_775614771

3 SubmittersRCV000695118RCV004025229RCV003322810

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
CA201845853 rs_911814791

2 SubmittersRCV000686063RCV004026222

NM_024757.5(EHMT1):c.3355G>A (p.Val1119Ile) SNV
Germline
Chr9:137816043 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Inborn genetic diseases
EHMT1-related disorder
Criteria Provided
Conflicting Classifications
CA5375267 rs_139394414

5 SubmittersRCV000687041RCV001255094RCV002315989RCV004742571

NM_024757.5(EHMT1):c.1814C>T (p.Pro605Leu) SNV
Germline
Chr9:137776640 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5374741 rs_373640528

3 SubmittersRCV000688004RCV005562434

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
CA375793823 rs_1429360126

6 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
CA375783545 rs_1564847357

2 SubmittersRCV001471115RCV003392538

NM_024757.5(EHMT1):c.1444G>A (p.Val482Ile) SNV
Germline
Chr9:137757954 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA375766205 rs_1265023925

3 SubmittersRCV004808864RCV002318708RCV003768144

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
CA5374540 rs_754380060

3 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
CA201802264 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
CA201811757 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
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5374801 rs_757416132

4 SubmittersRCV000736114RCV000793881RCV004808868

NM_024757.5(EHMT1):c.1249-2A>G SNV
Germline
Chr9:137754169 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
CA375762598 rs_1564697048

1 SubmittersRCV000760187

NM_024757.5(EHMT1):c.149C>T (p.Ala50Val) SNV
Germline
Chr9:137716689 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Condition: not provided
EHMT1-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA5374191 rs_143155406

6 SubmittersRCV000817768RCV002390668RCV001534159RCV003955527RCV005436074

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
CA5375105 rs_147956904

4 SubmittersRCV000810592RCV002440746RCV003318642

NM_024757.5(EHMT1):c.3375G>C (p.Arg1125Ser) SNV
Germline
Chr9:137817439 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5375296 rs_764006601

6 SubmittersRCV000820474RCV001528830RCV002537472

NM_024757.5(EHMT1):c.2566C>T (p.Gln856Ter) SNV
Germline
Chr9:137798873 Pathogenic Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA375788192 rs_1588770875

2 SubmittersRCV000825019RCV004761838

NM_024757.5(EHMT1):c.1468C>T (p.Arg490Ter) SNV
Germline
Chr9:137757978 Pathogenic/Likely pathogenic Marfanoid habitus and intellectual disability
Inborn genetic diseases
Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA375766374 rs_1588553447

5 SubmittersRCV000850475RCV003279125RCV004596365RCV002274105

NM_170606.3(KMT2C):c.2961C>G (p.Tyr987Ter) SNV
Germline
Chr7:152229938 Conflicting classifications of pathogenicity Global developmental delay
Cerebellar atrophy
Kleefstra syndrome 2
Kleefstra syndrome 2
Criteria Provided
Conflicting Classifications
CA169240819 rs_58528565

3 SubmittersRCV000856681RCV001193315

NM_024757.5(EHMT1):c.3632G>A (p.Arg1211His) SNV
Germline
Chr9:137834440 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5375404 rs_751046687

3 SubmittersRCV000953841RCV002255171RCV004973202

NM_024757.5(EHMT1):c.205G>A (p.Ala69Thr) SNV
Germline
Chr9:137716745 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA375763207 rs_1468072346

2 SubmittersRCV001520926RCV005550081

NM_024757.5(EHMT1):c.3252C>G (p.Tyr1084Ter) SNV
Unknown
Chr9:137814502 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
CA375795069 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
CA375782236 rs_1325669112

1 SubmittersRCV000988318

NM_024757.5(EHMT1):c.2187G>A (p.Ser729=) SNV
Germline
Chr9:137778050 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA5374837 rs_753928723

2 SubmittersRCV000999301RCV001313353

NM_024757.5(EHMT1):c.324C>G (p.His108Gln) SNV
Germline
Chr9:137716864 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA375764415 rs_574402576

3 SubmittersRCV001034476RCV005328464

NM_024757.5(EHMT1):c.484G>A (p.Gly162Ser) SNV
Germline
Chr9:137717024 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Epilepsy
Criteria Provided
Conflicting Classifications
CA5374318 rs_775347185

2 SubmittersRCV001034484RCV005626302

NM_024757.5(EHMT1):c.2803G>A (p.Val935Met) SNV
Germline
Chr9:137811551 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Intellectual disability
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5375067 rs_762121901

4 SubmittersRCV001034506RCV001252234RCV005550091

NM_024757.5(EHMT1):c.3062T>A (p.Ile1021Asn) SNV
Germline
Chr9:137813412 Conflicting classifications of pathogenicity Kleefstra syndrome 1
not specified
Criteria Provided
Conflicting Classifications
CA5375156 rs_756487270

2 SubmittersRCV001034337RCV005056799

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
CA201845810 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
CA201783978 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
CA5374677 rs_779709777

2 SubmittersRCV001048884RCV001593219

NM_024757.5(EHMT1):c.2797C>T (p.His933Tyr) SNV
Germline
Chr9:137811545 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5375062 rs_148946382

3 SubmittersRCV001070502RCV001560468

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
CA5375409 rs_761138496

3 SubmittersRCV001058816RCV001593233RCV002553848

NM_024757.5(EHMT1):c.592G>A (p.Val198Ile) SNV
Germline
Chr9:137717132 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5374354 rs_761554206

3 SubmittersRCV001198099RCV004761968

NM_024757.5(EHMT1):c.670G>A (p.Val224Ile) SNV
Germline
Chr9:137728376 Conflicting classifications of pathogenicity Kleefstra syndrome 1 Criteria Provided
Conflicting Classifications
CA375771712 rs_1288948653

2 SubmittersRCV001197575

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
CA375772076 rs_1474604202

4 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
CA375763317 rs_1949206105

2 SubmittersRCV001199026RCV003163501

NM_024757.5(EHMT1):c.82G>C (p.Glu28Gln) SNV
Germline
Chr9:137711027 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
not specified
See cases
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA375759751 rs_1342402816

6 SubmittersRCV001217725RCV001773485RCV002249809RCV002252332RCV004978125

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
CA5374325 rs_770718072

2 SubmittersRCV001224363RCV002305576

NM_024757.5(EHMT1):c.776C>T (p.Ser259Leu) SNV
Germline
Chr9:137728482 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375772266 rs_1469917649

2 SubmittersRCV001217735RCV005411680

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
CA5374539 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
CA201805417 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
CA375759594 rs_1389665235

2 SubmittersRCV001213693RCV002469354

NM_024757.5(EHMT1):c.2670G>T (p.Lys890Asn) SNV
Germline
Chr9:137800942 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375788936 rs_1346178132

2 SubmittersRCV001213695RCV005235534

NM_024757.5(EHMT1):c.2992T>G (p.Ser998Ala) SNV
Germline
Chr9:137813130 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375793660 rs_1330826129

3 SubmittersRCV001202374RCV004033532RCV004773316

NM_024757.5(EHMT1):c.2608-1G>A SNV
Germline
Chr9:137800879 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
CA375788682 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
CA5374272 rs_763562241

2 SubmittersRCV001237102RCV002563880

NM_024757.5(EHMT1):c.2385G>A (p.Ala795=) SNV
Germline
Chr9:137790850 Conflicting classifications of pathogenicity Inborn genetic diseases
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA467877348 rs_1425514936

2 SubmittersRCV002451543RCV001230719

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
CA375763311 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
CA370094926 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
CA375796731 rs_1954891050

1 SubmittersRCV001258341

NM_024757.5(EHMT1):c.2018+1G>C SNV
Germline
Chr9:137776845 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
CA375777087 rs_1950997931

1 SubmittersRCV001263214

NM_024757.5(EHMT1):c.380T>G (p.Leu127Ter) SNV
Germline
Chr9:137716920 Pathogenic Intellectual disability
Kleefstra syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA375764728 rs_1945375812

2 SubmittersRCV001260702RCV005419059

NM_024757.5(EHMT1):c.3578G>A (p.Gly1193Glu) SNV
Germline
Chr9:137834386 Conflicting classifications of pathogenicity Kleefstra syndrome 1 Criteria Provided
Conflicting Classifications
CA375781348 rs_1956451830

2 SubmittersRCV001260911

NM_024757.5(EHMT1):c.2530C>T (p.His844Tyr) SNV
Germline
Chr9:137798837 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
CA375788023 rs_1953188177

2 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
CA4579042 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
CA4579918 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
CA370091499 rs_2091357682

1 SubmittersRCV003323837

NM_024757.5(EHMT1):c.3462-1G>A SNV
Germline
Chr9:137818059 Pathogenic Kleefstra syndrome 1 No Assertion Criteria Provided
CA375773250 rs_1955068468

1 SubmittersRCV001264758

NM_024757.5(EHMT1):c.3577G>A (p.Gly1193Arg) SNV
Germline
Chr9:137834385 Conflicting classifications of pathogenicity Inborn genetic diseases
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA375781341 rs_1956451687

2 SubmittersRCV001266944RCV004720301

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
CA5374213 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
CA5374654 rs_778447794

2 SubmittersRCV001304432RCV001815536

NM_170606.3(KMT2C):c.10054C>G (p.Gln3352Glu) SNV
Germline
Chr7:152163523 Conflicting classifications of pathogenicity Kleefstra syndrome 2 Criteria Provided
Conflicting Classifications
CA370104991 rs_2092568887

2 SubmittersRCV001328728

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
CA370092857 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
CA375762220 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
CA5374573 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
CA5374319 rs_769036698

2 SubmittersRCV001341189RCV002546926

NM_024757.5(EHMT1):c.755C>T (p.Pro252Leu) SNV
Germline
Chr9:137728461 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5374402 rs_775614771

2 SubmittersRCV001352351RCV004762117

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
CA5374900 rs_398124405

2 SubmittersRCV001350973RCV002447435

NM_024757.5(EHMT1):c.1502-2A>G SNV
Germline
Chr9:137762673 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
CA375768310 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
CA5374396 rs_778733047

2 SubmittersRCV001359737RCV002377510

NM_024757.5(EHMT1):c.3646C>T (p.His1216Tyr) SNV
Germline
Chr9:137834454 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5375407 rs_569375203

2 SubmittersRCV001363769RCV005330760

NM_024757.5(EHMT1):c.3709C>G (p.Gln1237Glu) SNV
Germline
Chr9:137834517 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA375782233 rs_1325669112

2 SubmittersRCV001363251RCV005562721

NM_170606.3(KMT2C):c.7825C>T (p.Arg2609Ter) SNV
Germline
Chr7:152177628 Pathogenic Neurodevelopmental disorder
Condition: not provided
Kleefstra syndrome 2
Criteria Provided
Multiple Submitters
No Conflicts
CA370084841 rs_2129115127

3 SubmittersRCV001374924RCV002070245RCV004789556

NM_024757.5(EHMT1):c.322C>T (p.His108Tyr) SNV
Germline
Chr9:137716862 Conflicting classifications of pathogenicity Kleefstra syndrome 1
not specified
Criteria Provided
Conflicting Classifications
CA375764403 rs_1329664706

2 SubmittersRCV001411980RCV005237792

NM_024757.5(EHMT1):c.2508C>T (p.Asp836=) SNV
Germline
Chr9:137798815 Conflicting classifications of pathogenicity Kleefstra syndrome 1
not specified
Criteria Provided
Conflicting Classifications
CA5374981 rs_371937933

2 SubmittersRCV001449289RCV005237824

NM_024757.5(EHMT1):c.494C>A (p.Pro165Gln) SNV
Germline
Chr9:137717034 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA375765377 rs_1945389965

3 SubmittersRCV001547468RCV003120625RCV005330889

NM_170606.3(KMT2C):c.2573G>T (p.Trp858Leu) SNV
Germline
Chr7:152238786 Conflicting classifications of pathogenicity not specified
Kleefstra syndrome 2
Autism, susceptiblity to
Criteria Provided
Conflicting Classifications
CA169245016 rs_111493987

3 SubmittersRCV001553589RCV004815568RCV003313004

NM_024757.5(EHMT1):c.1493A>G (p.Gln498Arg) SNV
Germline
Chr9:137758003 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA375766562 rs_1949510530

3 SubmittersRCV001558397RCV001882645RCV005330890

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
CA201812625 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
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA201814125 rs_201181085

3 SubmittersRCV001583717RCV002571168RCV005564888

NM_024757.5(EHMT1):c.3329C>T (p.Ser1110Phe) SNV
Germline
Chr9:137816017 Conflicting classifications of pathogenicity Condition: not provided
EHMT1-related disorder
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA5375262 rs_780102096

3 SubmittersRCV001653007RCV003401564RCV002073050

NM_024757.5(EHMT1):c.2929C>T (p.Gln977Ter) SNV
Germline
Chr9:137813067 Pathogenic Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Single Submitter
CA375793388 rs_2137711618

3 SubmittersRCV001702022RCV004720313

NM_024757.5(EHMT1):c.3459C>T (p.Cys1153=) SNV
Germline
Chr9:137817523 Conflicting classifications of pathogenicity Kleefstra syndrome 1
EHMT1-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA467877620 rs_2132793967

5 SubmittersRCV001726715RCV003941106RCV004762170

NM_170606.3(KMT2C):c.4602G>T (p.Gln1534His) SNV
Germline
Chr7:152194067 Conflicting classifications of pathogenicity Kleefstra syndrome 2
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA169222781 rs_992987667

3 SubmittersRCV001725873RCV003718419RCV002246464

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
CA375762132 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
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA375776216 rs_1399162372

3 SubmittersRCV001767394RCV001868474RCV004980651

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
CA5374320 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
CA5375061 rs_745973990

2 SubmittersRCV001773023RCV003502602

NM_024757.5(EHMT1):c.200C>G (p.Ala67Gly) SNV
Germline
Chr9:137716740 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA5374214 rs_757531969

2 SubmittersRCV001773123RCV005095040

NM_170606.3(KMT2C):c.11812+2T>C SNV
Unknown
Chr7:152156203 Likely pathogenic Kleefstra syndrome 2 Criteria Provided
Single Submitter
CA370097862 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
CA370108944 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
CA4579670 rs_780982767

3 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
CA5375308 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
CA370091073 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
CA5374769 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
CA375783411 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
CA4579374 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
CA4580046 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
CA375772967 rs_2132792568

1 SubmittersRCV001900886

NM_024757.5(EHMT1):c.3058C>T (p.Arg1020Cys) SNV
Germline
Chr9:137813408 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5375153 rs_757820735

2 SubmittersRCV002004554RCV005421067

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
CA4579323 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
CA4579395 rs_182795390

2 SubmittersRCV001999597RCV003134342

NM_024757.5(EHMT1):c.1359C>G (p.Ser453Arg) SNV
Germline
Chr9:137754281 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA375763861 rs_545055517

3 SubmittersRCV001904911RCV002547999

NM_024757.5(EHMT1):c.2080G>A (p.Glu694Lys) SNV
Germline
Chr9:137777943 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA375778555 rs_1229220724

2 SubmittersRCV001949758RCV004975904

NM_024757.5(EHMT1):c.510G>T (p.Gln170His) SNV
Germline
Chr9:137717050 Conflicting classifications of pathogenicity Kleefstra syndrome 1 Criteria Provided
Conflicting Classifications
CA375765476 rs_1308431693

2 SubmittersRCV001936807

NM_170606.3(KMT2C):c.1802T>G (p.Leu601Arg) SNV
Germline
Chr7:152249887 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Kleefstra syndrome 2
Criteria Provided
Conflicting Classifications
CA4581379 rs_756768425

4 SubmittersRCV001973120RCV004044692RCV005256836

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
CA375783779 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
CA375782941 rs_1302317350

2 SubmittersRCV001901984RCV002361115

NM_024757.5(EHMT1):c.587C>T (p.Ala196Val) SNV
Germline
Chr9:137717127 Conflicting classifications of pathogenicity Kleefstra syndrome 1 Criteria Provided
Conflicting Classifications
CA375766181 rs_1368780488

2 SubmittersRCV001962240

NM_024757.5(EHMT1):c.2614G>A (p.Gly872Arg) SNV
Germline
Chr9:137800886 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375788715 rs_1270766408

2 SubmittersRCV001891858RCV005623450

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
CA4581845 rs_758889240

3 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
CA4580153 rs_138373177

3 SubmittersRCV001897422RCV003134188RCV002553443

NM_024757.5(EHMT1):c.2842C>T (p.Arg948Trp) SNV
Germline
Chr9:137811590 Conflicting classifications of pathogenicity Kleefstra syndrome 1 Criteria Provided
Conflicting Classifications
CA201841593 rs_368702408

3 SubmittersRCV002004827

NM_024757.5(EHMT1):c.3595A>G (p.Ile1199Val) SNV
Germline
Chr9:137834403 Conflicting classifications of pathogenicity Kleefstra syndrome 1 Criteria Provided
Conflicting Classifications
CA375781428 rs_2133152660

2 SubmittersRCV002011505

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
CA4578856 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
CA4579890 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
CA4580174 rs_781220804

3 SubmittersRCV001883852RCV002490100RCV003120736

NM_024757.5(EHMT1):c.632T>C (p.Val211Ala) SNV
Germline
Chr9:137717172 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Inborn genetic diseases
EHMT1-related disorder
Criteria Provided
Conflicting Classifications
CA5374368 rs_764569458

4 SubmittersRCV001955824RCV003438905RCV002562880RCV003407992

NM_024757.5(EHMT1):c.3482C>G (p.Ser1161Ter) SNV
Germline
Chr9:137818080 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
CA375773405 rs_2132809199

1 SubmittersRCV001891292

NM_024757.5(EHMT1):c.154G>T (p.Gly52Cys) SNV
Germline
Chr9:137716694 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA375762656 rs_200364530

2 SubmittersRCV001952229RCV004975880

NM_024757.5(EHMT1):c.350C>G (p.Thr117Ser) SNV
Germline
Chr9:137716890 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5374279 rs_374844911

2 SubmittersRCV001984686RCV004616896

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
CA5374197 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
CA375772300 rs_2135784846

1 SubmittersRCV002039841

NM_170606.3(KMT2C):c.6302C>T (p.Pro2101Leu) SNV
Germline
Chr7:152181558 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 2
Criteria Provided
Conflicting Classifications
CA370095441 rs_2093435062

2 SubmittersRCV001983425RCV004729018

NM_024757.5(EHMT1):c.188C>G (p.Ala63Gly) SNV
Germline
Chr9:137716728 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA375763009 rs_138292762

3 SubmittersRCV002132997RCV003227063RCV005552659

NM_024757.5(EHMT1):c.2443G>A (p.Glu815Lys) SNV
Germline
Chr9:137790908 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375785548 rs_1443023108

3 SubmittersRCV002190545RCV002561577RCV005254027

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
CA375765438 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
CA4578799 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
CA2573144344 rs_2137670642

2 SubmittersRCV002134780RCV002243523

NM_024757.5(EHMT1):c.1286G>A (p.Arg429Lys) SNV
Germline
Chr9:137754208 Conflicting classifications of pathogenicity Kleefstra syndrome 1
not specified
Criteria Provided
Conflicting Classifications
CA375763050 rs_1949204312

2 SubmittersRCV002219311RCV005238229

NM_024757.5(EHMT1):c.391G>C (p.Ala131Pro) SNV
Germline
Chr9:137716931 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA201802128 rs_990229301

3 SubmittersRCV002075773RCV002508339RCV002372898

NM_170606.3(KMT2C):c.943G>A (p.Gly315Ser) SNV
Germline
Chr7:152273774 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 2
Criteria Provided
Conflicting Classifications
CA169231559 rs_149992209

3 SubmittersRCV002132130RCV005397319

NM_170606.3(KMT2C):c.3619A>G (p.Lys1207Glu) SNV
Germline
Chr7:152220616 Likely pathogenic Kleefstra syndrome 2 Criteria Provided
Single Submitter
CA370108897 rs_2129145634

1 SubmittersRCV002226822

NM_170606.3(KMT2C):c.10207C>T (p.Arg3403Cys) SNV
Germline
Chr7:152163370 Conflicting classifications of pathogenicity Kleefstra syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA169231585 rs_201762858

2 SubmittersRCV002227652RCV005095790

NM_024757.5(EHMT1):c.2018+1G>A SNV
Germline
Chr9:137776845 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
CA375777081 rs_1950997931

1 SubmittersRCV002249930

NM_024757.5(EHMT1):c.3310G>T (p.Glu1104Ter) SNV
Germline
Chr9:137815998 Pathogenic Kleefstra syndrome 1 Criteria Provided
Multiple Submitters
No Conflicts
CA375796450 rs_886041093

2 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
CA5375301 rs_754986694

2 SubmittersRCV002247212RCV003094062

NM_170606.3(KMT2C):c.8369T>C (p.Val2790Ala) SNV
Germline
Chr7:152177084 Conflicting classifications of pathogenicity Kleefstra syndrome 2
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA4579681 rs_771525847

2 SubmittersRCV002266812RCV005356075

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
CA375794869 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
CA370098921 rs_2129121010

1 SubmittersRCV002273263

NM_024757.5(EHMT1):c.2405G>C (p.Cys802Ser) SNV
Germline
Chr9:137790870 Conflicting classifications of pathogenicity Condition: not provided
Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5374942 rs_763767150

5 SubmittersRCV002275776RCV003096191RCV005333236

NM_170606.3(KMT2C):c.6769C>T (p.Arg2257Ter) SNV
Germline
Chr7:152181091 Likely pathogenic Kleefstra syndrome 2 Criteria Provided
Single Submitter
CA370091812 rs_2129119641

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
CA467877472 rs_2538359006

2 SubmittersRCV002290919RCV003609201

NM_170606.3(KMT2C):c.12666+1G>A SNV
Germline
Chr7:152151441 Likely pathogenic Kleefstra syndrome 2 Criteria Provided
Single Submitter
CA370094379 rs_2487614684

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
CA5374401 rs_775614771

3 SubmittersRCV002394007RCV003146548

NM_024757.5(EHMT1):c.3332G>C (p.Cys1111Ser) SNV
Germline
Chr9:137816020 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
CA375796612 rs_2538720142

1 SubmittersRCV002465442

NM_024757.5(EHMT1):c.2525G>A (p.Cys842Tyr) SNV
Germline
Chr9:137798832 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
CA375787995 rs_2538357710

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
CA201814712 rs_758900811

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
CA201802331 rs_1016996167

2 SubmittersRCV002612521RCV003395619

NM_024757.5(EHMT1):c.1170+2T>C SNV
Germline
Chr9:137744092 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
CA5374515 rs_761775030

1 SubmittersRCV002651008

NM_024757.5(EHMT1):c.623C>T (p.Pro208Leu) SNV
Germline
Chr9:137717163 Conflicting classifications of pathogenicity Kleefstra syndrome 1 Criteria Provided
Conflicting Classifications
CA5374363 rs_776711228

2 SubmittersRCV003108864

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
CA5374753 rs_762449462

2 SubmittersRCV002580816RCV003439027

NM_024757.5(EHMT1):c.347A>G (p.Gln116Arg) SNV
Germline
Chr9:137716887 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
CA375764523 rs_2541033401

1 SubmittersRCV002584406

NM_024757.5(EHMT1):c.1370-1G>C SNV
Germline
Chr9:137757879 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
CA375765505 rs_2541878110

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
CA375765047 rs_1164812479

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
CA375766236 rs_1010619841

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
CA375765916 rs_2541038785

2 SubmittersRCV002811543RCV004064912

NM_024757.5(EHMT1):c.1296G>C (p.Lys432Asn) SNV
Germline
Chr9:137754218 Conflicting classifications of pathogenicity Kleefstra syndrome 1
EHMT1-related disorder
Criteria Provided
Conflicting Classifications
CA375763188 rs_1588533578

2 SubmittersRCV002839129RCV003427510

NM_024757.5(EHMT1):c.1058C>G (p.Ser353Ter) SNV
Germline
Chr9:137743978 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
CA375779357 rs_2541617604

1 SubmittersRCV002872122

NM_024757.5(EHMT1):c.1069G>A (p.Glu357Lys) SNV
Germline
Chr9:137743989 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA5374491 rs_773779920

3 SubmittersRCV002882323RCV004774753RCV004526209

NM_024757.5(EHMT1):c.643-1G>A SNV
Germline
Chr9:137728348 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
CA375771498 rs_2541309055

1 SubmittersRCV002907931

NM_024757.5(EHMT1):c.3313T>C (p.Cys1105Arg) SNV
Germline
Chr9:137816001 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
CA375796480 rs_2538719684

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
KMT2C-related disorder
Kleefstra syndrome 2
Criteria Provided
Conflicting Classifications
CA4578800 rs_141718495

4 SubmittersRCV002943626RCV002966259RCV004536484RCV003134559

NM_024757.5(EHMT1):c.2505+1G>A SNV
Germline
Chr9:137790971 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
CA375785689 rs_2538204213

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
CA591241128 rs_1279037975

2 SubmittersRCV002859962RCV003609252

NM_024757.5(EHMT1):c.3175C>G (p.Leu1059Val) SNV
Germline
Chr9:137813525 Conflicting classifications of pathogenicity Inborn genetic diseases
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA375794625 rs_1414637513

2 SubmittersRCV002935578RCV003502688

NM_170606.3(KMT2C):c.5716C>T (p.Arg1906Ter) SNV
Germline
Chr7:152182144 Pathogenic Kleefstra syndrome 2 Criteria Provided
Single Submitter
CA4580203 rs_763438739

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
CA4580098 rs_370231890

3 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
CA4580235 rs_61730537

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
CA4579949 rs_762356843

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
CA4579608 rs_752050295

2 SubmittersRCV003133930RCV003778723

NM_170606.3(KMT2C):c.13894+2T>G SNV
Germline
Chr7:152148031 Likely pathogenic Kleefstra syndrome 2 Criteria Provided
Single Submitter
CA370089056 rs_2487596421

1 SubmittersRCV003149140

NM_024757.5(EHMT1):c.3461+1G>C SNV
Germline
Chr9:137817526 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
CA375773157 rs_2538750175

1 SubmittersRCV003214124

NM_024757.5(EHMT1):c.2618G>T (p.Gly873Val) SNV
Germline
Chr9:137800890 Pathogenic/Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Multiple Submitters
No Conflicts
CA375788729 rs_752983885

2 SubmittersRCV003234810

NM_024757.5(EHMT1):c.3239T>C (p.Met1080Thr) SNV
Germline
Chr9:137814489 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA375795002 rs_2538687690

2 SubmittersRCV003314115RCV004621773

NM_170606.3(KMT2C):c.4845G>A (p.Trp1615Ter) SNV
Germline
Chr7:152187425 Pathogenic Kleefstra syndrome 2 Criteria Provided
Single Submitter
CA370102733 rs_2129124731

1 SubmittersRCV003314517

NM_024757.5(EHMT1):c.1896G>T (p.Glu632Asp) SNV
Germline
Chr9:137776722 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5374754 rs_372514557

2 SubmittersRCV003777316RCV003319938

NM_170606.3(KMT2C):c.9235C>T (p.Arg3079Ter) SNV
Germline
Chr7:152176218 Pathogenic Condition: not provided
Kleefstra syndrome 2
Criteria Provided
Single Submitter
CA370075903 rs_2129112621

2 SubmittersRCV003328969RCV005622229

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
CA375772119 rs_769850896

2 SubmittersRCV003329026RCV003777376

NM_170606.3(KMT2C):c.9262+1G>A SNV
Germline
Chr7:152176190 Likely pathogenic Kleefstra syndrome 2 No Assertion Criteria Provided
CA370075761 rs_2129112579

1 SubmittersRCV003388246

NM_170606.3(KMT2C):c.596G>A (p.Arg199Gln) SNV
Germline
Chr7:152311941 Conflicting classifications of pathogenicity KMT2C-related disorder
Kleefstra syndrome 2
Criteria Provided
Conflicting Classifications
CA169461895 rs_369725088

2 SubmittersRCV004528766RCV004723300

NM_024757.5(EHMT1):c.1486T>C (p.Ser496Pro) SNV
Germline
Chr9:137757996 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA5374631 rs_542021366

3 SubmittersRCV003442393RCV004621799RCV003502736

NM_024757.5(EHMT1):c.3331T>A (p.Cys1111Ser) SNV
Germline
Chr9:137816019 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
CA375796600 rs_2538720112

1 SubmittersRCV003444040

NM_170606.3(KMT2C):c.7258C>G (p.Leu2420Val) SNV
Germline
Chr7:152180018 Conflicting classifications of pathogenicity Inborn genetic diseases
Kleefstra syndrome 2
Criteria Provided
Conflicting Classifications
CA4579904 rs_755908212

2 SubmittersRCV004364887RCV003493056

NM_024757.5(EHMT1):c.3170C>T (p.Thr1057Ile) SNV
Germline
Chr9:137813520 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375794614 rs_1423255138

2 SubmittersRCV003502950RCV004723348

NM_024757.5(EHMT1):c.2159T>G (p.Leu720Trp) SNV
Germline
Chr9:137778022 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375779165 rs_2542395324

3 SubmittersRCV003609420RCV004593385

NM_024757.5(EHMT1):c.346C>T (p.Gln116Ter) SNV
Germline
Chr9:137716886 Pathogenic Kleefstra syndrome 1 Criteria Provided
Multiple Submitters
No Conflicts
CA375764516 rs_2541033378

3 SubmittersRCV003610109

NM_024757.5(EHMT1):c.823+2T>G SNV
Germline
Chr9:137728531 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
CA375772893 rs_2541314706

1 SubmittersRCV003608724

NM_024757.5(EHMT1):c.2563G>A (p.Val855Ile) SNV
Germline
Chr9:137798870 Conflicting classifications of pathogenicity Kleefstra syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5374987 rs_764201887

2 SubmittersRCV003825166RCV005325837

NM_170606.3(KMT2C):c.749G>A (p.Trp250Ter) SNV
Unknown
Chr7:152310066 Likely pathogenic Kleefstra syndrome 2 Criteria Provided
Single Submitter
CA370196431 rs_2486102657

1 SubmittersRCV003885420

NM_024757.5(EHMT1):c.3180+1G>A SNV
Germline
Chr9:137813531 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
CA375794654 rs_137852724

1 SubmittersRCV003984988

NM_024757.5(EHMT1):c.2968C>T (p.Gln990Ter) SNV
Germline
Chr9:137813106 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
CA375793554 rs_2538652500

1 SubmittersRCV003988666

NM_024757.5(EHMT1):c.3036-1G>A SNV
Germline
Chr9:137813385 Pathogenic/Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Multiple Submitters
No Conflicts
CA375793779 rs_2538660511

2 SubmittersRCV003990590

NM_024757.5(EHMT1):c.410T>G (p.Leu137Trp) SNV
Germline
Chr9:137716950 Conflicting classifications of pathogenicity Inborn genetic diseases
Kleefstra syndrome 1
Criteria Provided
Conflicting Classifications
CA375764979 rs_1339810176

2 SubmittersRCV004377642RCV005065009

NM_170606.3(KMT2C):c.14068C>T (p.Arg4690Ter) SNV
Germline
Chr7:152145259 Likely pathogenic Kleefstra syndrome 2
KMT2C-related disorder
Criteria Provided
Single Submitter
CA4578504 rs_749571160

2 SubmittersRCV004545935RCV004736443

NM_024757.5(EHMT1):c.2242C>T (p.Gln748Ter) SNV
Germline
Chr9:137779684 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
CA375780295 rs_2542422524

1 SubmittersRCV004545965

NM_170606.3(KMT2C):c.11983C>T (p.Arg3995Ter) SNV
Germline
Chr7:152154423 Pathogenic/Likely pathogenic KMT2C-related NDD
Kleefstra syndrome 2
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004731613RCV005603874

NM_024757.5(EHMT1):c.3461+5G>C SNV
Germline
Chr9:137817530 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004720425

NM_024757.5(EHMT1):c.2587C>T (p.Gln863Ter) SNV
Germline
Chr9:137798894 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004720429

NM_024757.5(EHMT1):c.3259-2A>G SNV
Germline
Chr9:137815945 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004720430

NM_024757.5(EHMT1):c.2636G>A (p.Trp879Ter) SNV
Germline
Chr9:137800908 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004720431

NM_024757.5(EHMT1):c.2734T>C (p.Trp912Arg) SNV
Germline
Chr9:137811482 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004720433

NM_024757.5(EHMT1):c.3459C>A (p.Cys1153Ter) SNV
Germline
Chr9:137817523 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004720437

NM_024757.5(EHMT1):c.2822C>A (p.Ser941Ter) SNV
Germline
Chr9:137811570 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004720438

NM_024757.5(EHMT1):c.2276-2A>G SNV
Germline
Chr9:137782289 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004720439

NM_024757.5(EHMT1):c.2350G>A (p.Gly784Arg) SNV
Germline
Chr9:137782365 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004720441

NM_024757.5(EHMT1):c.3035+1G>A SNV
Germline
Chr9:137813174 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004720444

NM_024757.5(EHMT1):c.1756C>T (p.Gln586Ter) SNV
Germline
Chr9:137775217 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004720445

NM_024757.5(EHMT1):c.3577G>C (p.Gly1193Arg) SNV
Germline
Chr9:137834385 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004720447

NM_024757.5(EHMT1):c.2197A>T (p.Lys733Ter) SNV
Germline
Chr9:137779639 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004720449

NM_024757.5(EHMT1):c.2830C>T (p.His944Tyr) SNV
Germline
Chr9:137811578 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004720450

NM_024757.5(EHMT1):c.3203G>C (p.Cys1068Ser) SNV
Germline
Chr9:137814453 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004720451

NM_024757.5(EHMT1):c.3581A>T (p.Asn1194Ile) SNV
Germline
Chr9:137834389 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004720452

NM_024757.5(EHMT1):c.2465T>G (p.Val822Gly) SNV
Germline
Chr9:137790930 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004720453

NM_024757.5(EHMT1):c.3184T>G (p.Cys1062Gly) SNV
Germline
Chr9:137814434 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004720454

NM_024757.5(EHMT1):c.2333A>C (p.His778Pro) SNV
Germline
Chr9:137782348 Pathogenic/Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004720456

NM_024757.5(EHMT1):c.2264T>G (p.Leu755Arg) SNV
Germline
Chr9:137779706 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004720457

NM_024757.5(EHMT1):c.2675T>G (p.Leu892Arg) SNV
Germline
Chr9:137800947 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004720458

NM_024757.5(EHMT1):c.2273T>C (p.Leu758Pro) SNV
Germline
Chr9:137779715 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004720459

NM_024757.5(EHMT1):c.2732A>G (p.His911Arg) SNV
Germline
Chr9:137811480 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004720460

NM_024757.5(EHMT1):c.2725T>C (p.Cys909Arg) SNV
Germline
Chr9:137811473 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter
rs_2538620071

1 SubmittersRCV004557281

NM_170606.3(KMT2C):c.568C>T (p.Arg190Ter) SNV
Germline
Chr7:152315160 Likely pathogenic Condition: not provided
Kleefstra syndrome 2
Criteria Provided
Single Submitter

2 SubmittersRCV005416762RCV005230659

NM_024757.5(EHMT1):c.2382+1G>T SNV
Germline
Chr9:137782398 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

2 SubmittersRCV004818794

NM_024757.5(EHMT1):c.2018+1G>T SNV
Germline
Chr9:137776845 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004785027

NM_024757.5(EHMT1):c.2675T>C (p.Leu892Pro) SNV
Germline
Chr9:137800947 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004787546

NM_170606.3(KMT2C):c.9391C>T (p.Gln3131Ter) SNV
Germline
Chr7:152171326 Likely pathogenic Kleefstra syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV004799147

NM_024757.5(EHMT1):c.3333C>G (p.Cys1111Trp) SNV
Germline
Chr9:137816021 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004819048

NM_024757.5(EHMT1):c.3716+1G>C SNV
Germline
Chr9:137834525 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004819049

NM_024757.5(EHMT1):c.1792-2A>T SNV
Germline
Chr9:137776616 Likely pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004819051

NM_024757.5(EHMT1):c.2867+2T>C SNV
Germline
Chr9:137811617 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004819055

NM_024757.5(EHMT1):c.1742G>A (p.Arg581His) SNV
Germline
Chr9:137775203 Conflicting classifications of pathogenicity Kleefstra syndrome 1
not specified
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005156306RCV005241114

NM_024757.5(EHMT1):c.46C>T (p.Gln16Ter) SNV
Germline
Chr9:137710991 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005159802

NM_024757.5(EHMT1):c.3576C>G (p.Tyr1192Ter) SNV
Germline
Chr9:137834384 Pathogenic Kleefstra syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005204743

NM_170606.3(KMT2C):c.4618C>T (p.Gln1540Ter) SNV
Unknown
Chr7:152194051 Pathogenic Kleefstra syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV005411026