Total 202 pathogenic variants reported for Koolen-de Vries syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_015443.4(KANSL1):c.1816C>T (p.Arg606Ter) SNV
Germline
Chr17:46066569 Pathogenic Koolen-de Vries syndrome
Condition: not provided
Global developmental delay
Criteria Provided
Multiple Submitters
No Conflicts
CA342801 rs_281865469

7 SubmittersRCV000024371RCV000523815RCV001255390

NM_015443.4(KANSL1):c.916C>T (p.Gln306Ter) SNV
Germline
Chr17:46171228 Pathogenic Koolen-de Vries syndrome
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA342804 rs_281865468

4 SubmittersRCV000024373RCV003362664

NM_015443.4(KANSL1):c.1652+1G>A SNV
Germline
Chr17:46067548 Pathogenic Koolen-de Vries syndrome
Condition: not provided
Uterine corpus endometrial carcinoma
Squamous cell carcinoma of the head and neck
Criteria Provided
Multiple Submitters
No Conflicts
CA342806 rs_281865470

5 SubmittersRCV000024374RCV000482618RCV005888668RCV005888667

NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) SNV
Germline/somatic
Chr11:108365208 Pathogenic Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Breast cancer, susceptibility to
Familial cancer of breast
Koolen-de Vries syndrome
Neoplasm
ATM-related cancer predisposition
Criteria Provided
Multiple Submitters
No Conflicts
CA194505 rs_770641163

22 SubmittersRCV000165909RCV000169469RCV000414034RCV000416708RCV000515430RCV001265579RCV003462193RCV004767107RCV006273604RCV006554482

NM_015443.4(KANSL1):c.3148T>C (p.Cys1050Arg) SNV
Germline
Chr17:46031646 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA315138 rs_796052590

2 SubmittersRCV000187743RCV003765193

NM_015443.4(KANSL1):c.3146A>G (p.Glu1049Gly) SNV
Germline
Chr17:46031648 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA315136 rs_771796347

4 SubmittersRCV001063200RCV001705000RCV002514009

NM_015443.4(KANSL1):c.3056G>A (p.Arg1019His) SNV
Germline
Chr17:46032081 Conflicting classifications of pathogenicity Condition: not provided
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA315227 rs_781056926

3 SubmittersRCV000187788RCV000543264

NM_015443.4(KANSL1):c.2791C>T (p.Arg931Trp) SNV
Germline
Chr17:46033126 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA315128 rs_377108187

3 SubmittersRCV000187738RCV001852461

NM_015443.4(KANSL1):c.2725-7A>G SNV
Germline
Chr17:46033199 Conflicting classifications of pathogenicity not specified
Condition: not provided
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA315127 rs_186818985

5 SubmittersRCV000187737RCV000727176RCV001081131

NM_015443.4(KANSL1):c.2509A>G (p.Ser837Gly) SNV
Germline
Chr17:46038570 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA315121 rs_776349500

3 SubmittersRCV001339133RCV001704998

NM_015443.4(KANSL1):c.2233A>G (p.Arg745Gly) SNV
Germline
Chr17:46039186 Conflicting classifications of pathogenicity Condition: not provided
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA315221 rs_796052596

3 SubmittersRCV000187785RCV001852464

NM_015443.4(KANSL1):c.2158C>T (p.Arg720Cys) SNV
Germline
Chr17:46039747 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA315113 rs_376233499

4 SubmittersRCV001196854RCV001704997

NM_015443.4(KANSL1):c.2110T>C (p.Ser704Pro) SNV
Germline
Chr17:46039795 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Condition: not provided
Inborn genetic diseases
Craniosynostosis syndrome
Criteria Provided
Conflicting Classifications
CA315109 rs_202231419

5 SubmittersRCV000187728RCV001063848RCV001704996RCV002514008RCV005625400

NM_015443.4(KANSL1):c.1937C>T (p.Pro646Leu) SNV
Germline
Chr17:46050616 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA315105 rs_796052585

2 SubmittersRCV000187726RCV001346147

NM_015443.4(KANSL1):c.1625T>A (p.Leu542His) SNV
Germline
Chr17:46067576 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA315207 rs_796052593

3 SubmittersRCV000187778RCV000705973RCV005647982

NM_015443.4(KANSL1):c.1523C>A (p.Thr508Asn) SNV
Germline
Chr17:46082451 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA315095 rs_375555532

2 SubmittersRCV000187722RCV001359312

NM_015443.4(KANSL1):c.1277G>A (p.Arg426His) SNV
Germline
Chr17:46170867 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA315198 rs_764291274

3 SubmittersRCV000187774RCV005016532

NM_015443.4(KANSL1):c.1276C>T (p.Arg426Cys) SNV
Germline
Chr17:46170868 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Condition: not provided
KANSL1-related disorder
Inborn genetic diseases
not specified
Criteria Provided
Conflicting Classifications
CA315196 rs_757224600

5 SubmittersRCV001061422RCV001705010RCV003895223RCV004984732RCV005434686

NM_015443.4(KANSL1):c.1187A>T (p.Gln396Leu) SNV
Germline
Chr17:46170957 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA315249 rs_149302199

2 SubmittersRCV000689338RCV001705014

NM_015443.4(KANSL1):c.1186C>T (p.Gln396Ter) SNV
Germline
Chr17:46170958 Conflicting classifications of pathogenicity Condition: not provided
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA315255 rs_796052603

2 SubmittersRCV000187802RCV001317571

NM_015443.4(KANSL1):c.895C>T (p.Arg299Cys) SNV
Germline
Chr17:46171249 Conflicting classifications of pathogenicity not specified
Inborn genetic diseases
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA315243 rs_755353984

3 SubmittersRCV000187796RCV000624715RCV001342875

NM_015443.4(KANSL1):c.805C>T (p.Pro269Ser) SNV
Germline
Chr17:46171339 Conflicting classifications of pathogenicity Condition: not provided
Koolen-de Vries syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA315253 rs_200903841

4 SubmittersRCV000187801RCV000644667RCV005365109

NM_015443.4(KANSL1):c.500A>G (p.His167Arg) SNV
Germline
Chr17:46171644 Conflicting classifications of pathogenicity Condition: not provided
Koolen-de Vries syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA315162 rs_779594202

3 SubmittersRCV000187756RCV000467580RCV002514011

NM_015443.4(KANSL1):c.122A>G (p.Asn41Ser) SNV
Germline
Chr17:46172022 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Inborn genetic diseases
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA315156 rs_142587760

5 SubmittersRCV000696346RCV002517866RCV001705002RCV004998396

NM_015443.4(KANSL1):c.118G>A (p.Ala40Thr) SNV
Germline
Chr17:46172026 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA315154 rs_376632173

3 SubmittersRCV001041956RCV001705001RCV005647981

NM_015443.4(KANSL1):c.37G>A (p.Ala13Thr) SNV
Germline
Chr17:46172107 Conflicting classifications of pathogenicity Condition: not provided
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA315148 rs_528026295

3 SubmittersRCV001711477RCV001852462

NM_015443.4(KANSL1):c.19G>A (p.Ala7Thr) SNV
Germline
Chr17:46172125 Conflicting classifications of pathogenicity Condition: not provided
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA315231 rs_768152581

3 SubmittersRCV000187790RCV001497152

NM_015443.4(KANSL1):c.8C>T (p.Ala3Val) SNV
Germline
Chr17:46172136 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA315144 rs_376233244

2 SubmittersRCV000187747RCV005016531

NM_015443.4(KANSL1):c.2441C>G (p.Thr814Ser) SNV
Germline
Chr17:46038638 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8618564 rs_757031050

4 SubmittersRCV000441779RCV000551684RCV003243079

NM_015443.4(KANSL1):c.2128C>A (p.Pro710Thr) SNV
Germline
Chr17:46039777 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8618652 rs_550137256

2 SubmittersRCV002633019RCV004070610

NM_015443.4(KANSL1):c.1945C>G (p.His649Asp) SNV
Germline
Chr17:46050608 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8618678 rs_759914921

3 SubmittersRCV001927083RCV002561365

NM_015443.4(KANSL1):c.1676A>G (p.His559Arg) SNV
Germline
Chr17:46066709 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
not specified
Criteria Provided
Conflicting Classifications
CA10645961 rs_886053069

2 SubmittersRCV001372976RCV005434829

NM_015443.4(KANSL1):c.1826G>A (p.Ser609Asn) SNV
Germline
Chr17:46066559 Conflicting classifications of pathogenicity Condition: not provided
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA8618721 rs_138698439

6 SubmittersRCV000438080RCV000474219

NM_015443.4(KANSL1):c.3260C>T (p.Pro1087Leu) SNV
Germline
Chr17:46031534 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8618333 rs_781609742

2 SubmittersRCV001861583RCV001721322

NM_015443.4(KANSL1):c.3019C>T (p.Arg1007Trp) SNV
Germline
Chr17:46032118 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA16607298 rs_1057522661

3 SubmittersRCV000441814RCV004799208

NM_015443.4(KANSL1):c.1459C>G (p.Pro487Ala) SNV
Germline
Chr17:46082515 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA16607308 rs_566436667

2 SubmittersRCV000426453RCV006555935

NM_015443.4(KANSL1):c.1364A>G (p.His455Arg) SNV
Germline
Chr17:46094627 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA16607309 rs_1057521224

2 SubmittersRCV000444864RCV001861515

NM_015443.4(KANSL1):c.1126A>G (p.Ile376Val) SNV
Germline
Chr17:46171018 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8618887 rs_754713192

3 SubmittersRCV000420284RCV001035154RCV005648003

NM_015443.4(KANSL1):c.1118G>C (p.Ser373Thr) SNV
Germline
Chr17:46171026 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA8618888 rs_747621748

2 SubmittersRCV000426751RCV001037976

NM_015443.4(KANSL1):c.617C>G (p.Thr206Ser) SNV
Germline
Chr17:46171527 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA16607323 rs_761141661

2 SubmittersRCV000423972RCV001362339

NM_015443.4(KANSL1):c.3002C>T (p.Pro1001Leu) SNV
Germline
Chr17:46032135 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA16607657 rs_1037585739

3 SubmittersRCV001066773RCV001720011RCV004022309

NM_015443.4(KANSL1):c.2524G>A (p.Val842Ile) SNV
Germline
Chr17:46038555 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8618546 rs_758243969

4 SubmittersRCV000422529RCV001042100RCV006263932

NM_015443.4(KANSL1):c.1652C>T (p.Thr551Ile) SNV
Germline
Chr17:46067549 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA16607671 rs_778178483

4 SubmittersRCV000466219RCV000712036RCV004999386

NM_015443.4(KANSL1):c.736A>G (p.Ser246Gly) SNV
Germline
Chr17:46171408 Conflicting classifications of pathogenicity not specified
Condition: not provided
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA8618975 rs_141969887

3 SubmittersRCV000437694RCV000992212RCV001211698

NM_015443.4(KANSL1):c.112G>A (p.Gly38Ser) SNV
Germline
Chr17:46172032 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8619106 rs_770738115

4 SubmittersRCV000714716RCV000863167RCV004022338

NM_015443.4(KANSL1):c.3158A>G (p.Gln1053Arg) SNV
Germline
Chr17:46031636 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA16607691 rs_1057523651

2 SubmittersRCV000431068RCV005010326

NM_015443.4(KANSL1):c.2106G>C (p.Lys702Asn) SNV
Germline
Chr17:46039799 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA16607697 rs_371108710

2 SubmittersRCV000438606RCV000459714

NM_015443.4(KANSL1):c.1781G>A (p.Arg594His) SNV
Germline
Chr17:46066604 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA16607703 rs_1057520691

2 SubmittersRCV000436315RCV003642886

NM_015443.4(KANSL1):c.1343G>A (p.Arg448His) SNV
Germline
Chr17:46094648 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA8618841 rs_760727599

2 SubmittersRCV000420997RCV001348177

NM_015443.4(KANSL1):c.1277G>C (p.Arg426Pro) SNV
Germline
Chr17:46170867 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8618867 rs_764291274

3 SubmittersRCV000441895RCV000644673RCV004597794

NM_015443.4(KANSL1):c.1021C>T (p.Arg341Trp) SNV
Germline
Chr17:46171123 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA8618903 rs_373918467

2 SubmittersRCV000438055RCV001224346

NM_015443.4(KANSL1):c.635A>C (p.His212Pro) SNV
Germline
Chr17:46171509 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA16607717 rs_141110759

2 SubmittersRCV000434828RCV005018730

NM_015443.4(KANSL1):c.620A>T (p.Asn207Ile) SNV
Germline
Chr17:46171524 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA16607720 rs_144882998

2 SubmittersRCV000418873RCV001052588

NM_015443.4(KANSL1):c.619A>G (p.Asn207Asp) SNV
Germline
Chr17:46171525 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8619013 rs_372601814

3 SubmittersRCV000442390RCV000808410RCV002525400

NM_015443.4(KANSL1):c.353A>G (p.Tyr118Cys) SNV
Germline
Chr17:46171791 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA8619065 rs_781582912

3 SubmittersRCV000436937RCV001320805

NM_015443.4(KANSL1):c.3236C>T (p.Ala1079Val) SNV
Germline
Chr17:46031558 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8618341 rs_370112084

3 SubmittersRCV000438336RCV000869176RCV003168682

NM_015443.4(KANSL1):c.3038T>C (p.Leu1013Ser) SNV
Germline
Chr17:46032099 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8618395 rs_138490347

3 SubmittersRCV000530673RCV001703690RCV004984874

NM_015443.4(KANSL1):c.1979A>G (p.Gln660Arg) SNV
Germline
Chr17:46050574 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA8618675 rs_761226381

2 SubmittersRCV000439744RCV005090726

NM_015443.4(KANSL1):c.1830C>A (p.Ile610=) SNV
Germline
Chr17:46066555 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8618719 rs_150800846

2 SubmittersRCV000865277RCV001703678

NM_015443.4(KANSL1):c.1270G>A (p.Glu424Lys) SNV
Germline
Chr17:46170874 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA8618868 rs_780942888

2 SubmittersRCV000424488RCV001201462

NM_015443.4(KANSL1):c.1141G>C (p.Glu381Gln) SNV
Germline
Chr17:46171003 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA8618885 rs_779968528

2 SubmittersRCV000436123RCV001037977

NM_015443.4(KANSL1):c.500A>C (p.His167Pro) SNV
Germline
Chr17:46171644 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA16608504 rs_779594202

2 SubmittersRCV000440671RCV005018724

NM_015443.4(KANSL1):c.191G>A (p.Arg64Gln) SNV
Germline
Chr17:46171953 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA8619096 rs_752415137

2 SubmittersRCV000442647RCV001365014

NM_015443.4(KANSL1):c.56G>A (p.Arg19Gln) SNV
Germline
Chr17:46172088 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA8619121 rs_767960522

3 SubmittersRCV000444174RCV001306239

NM_015443.4(KANSL1):c.12G>A (p.Met4Ile) SNV
Germline
Chr17:46172132 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8619130 rs_146472353

2 SubmittersRCV000644668RCV001721480

NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter) SNV
Germline
Chr17:46171276 Pathogenic/Likely pathogenic Condition: not provided
Inborn genetic diseases
Koolen-de Vries syndrome
not specified
Congenital myopathy
Criteria Provided
Multiple Submitters
No Conflicts
CA8618938 rs_149830411

8 SubmittersRCV000486096RCV000623046RCV000678306RCV002248704RCV005625630

NM_015443.4(KANSL1):c.2225G>A (p.Arg742Gln) SNV
Germline
Chr17:46039194 Conflicting classifications of pathogenicity Condition: not provided
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA8618624 rs_752047149

2 SubmittersRCV000513619RCV001522310

NM_015443.4(KANSL1):c.1022G>A (p.Arg341Gln) SNV
Germline
Chr17:46171122 Conflicting classifications of pathogenicity Condition: not provided
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA8618902 rs_371321182

2 SubmittersRCV000512890RCV001454174

NM_015443.4(KANSL1):c.1900G>A (p.Ala634Thr) SNV
Germline
Chr17:46050653 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8618686 rs_145938212

3 SubmittersRCV000545555RCV004984965

NM_015443.4(KANSL1):c.1774C>T (p.Arg592Trp) SNV
Germline
Chr17:46066611 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA399986479 rs_774841964

5 SubmittersRCV000552242RCV001542080

NM_015443.4(KANSL1):c.2984C>T (p.Pro995Leu) SNV
Germline
Chr17:46032153 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8618409 rs_761819132

2 SubmittersRCV000554499RCV006362458

NM_015443.4(KANSL1):c.767C>T (p.Ser256Phe) SNV
Germline
Chr17:46171377 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Inborn genetic diseases
not specified
Criteria Provided
Conflicting Classifications
CA8618967 rs_537773238

4 SubmittersRCV000557732RCV004024057RCV005418208

NM_015443.4(KANSL1):c.3031C>A (p.Arg1011=) SNV
Germline
Chr17:46032106 Conflicting classifications of pathogenicity Condition: not provided
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA8618396 rs_779686052

3 SubmittersRCV001718944RCV003767579

NM_015443.4(KANSL1):c.2480C>T (p.Ser827Phe) SNV
Germline
Chr17:46038599 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8618554 rs_773238363

4 SubmittersRCV000610788RCV001868053RCV004629253

NM_015443.4(KANSL1):c.2194A>G (p.Thr732Ala) SNV
Germline
Chr17:46039711 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
KANSL1-related disorder
Criteria Provided
Conflicting Classifications
CA291108322 rs_1036089094

4 SubmittersRCV000606090RCV000644666RCV003403424

NM_015443.4(KANSL1):c.2503C>T (p.Pro835Ser) SNV
Germline
Chr17:46038576 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA399980190 rs_1555733519

2 SubmittersRCV000601324RCV000694068

NM_015443.4(KANSL1):c.889C>T (p.Arg297Cys) SNV
Germline
Chr17:46171255 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8618930 rs_772236084

4 SubmittersRCV000714596RCV001698059RCV004025026

NM_015443.4(KANSL1):c.3221G>A (p.Arg1074Gln) SNV
Germline
Chr17:46031573 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8618346 rs_763541067

3 SubmittersRCV000614993RCV001360089RCV005427159

NM_015443.4(KANSL1):c.3196C>T (p.Arg1066Cys) SNV
Germline
Chr17:46031598 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA399985969 rs_1259929847

2 SubmittersRCV000612170RCV001338675

NM_015443.4(KANSL1):c.2878G>A (p.Gly960Ser) SNV
Germline
Chr17:46032259 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA399987288 rs_1315792143

2 SubmittersRCV000601126RCV001364392

NM_015443.4(KANSL1):c.932A>G (p.Lys311Arg) SNV
Germline
Chr17:46171212 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA399980101 rs_1555575305

2 SubmittersRCV000611941RCV001231181

NM_015443.4(KANSL1):c.896G>A (p.Arg299His) SNV
Germline
Chr17:46171248 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA8618927 rs_201785695

2 SubmittersRCV000602929RCV001341322

NM_015443.4(KANSL1):c.803C>T (p.Ser268Phe) SNV
Germline
Chr17:46171341 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA399980675 rs_1343422507

3 SubmittersRCV000607548RCV001855236RCV005648030

NM_015443.4(KANSL1):c.103G>A (p.Glu35Lys) SNV
Germline
Chr17:46172041 Conflicting classifications of pathogenicity not specified
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA8619111 rs_369793673

2 SubmittersRCV000605119RCV000813396

NM_015443.4(KANSL1):c.1859A>C (p.Asn620Thr) SNV
Germline
Chr17:46050694 Conflicting classifications of pathogenicity Inborn genetic diseases
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA8618695 rs_200979425

3 SubmittersRCV000622397RCV000812122

NM_015443.4(KANSL1):c.1042C>T (p.Arg348Ter) SNV
Germline
Chr17:46171102 Pathogenic Inborn genetic diseases
Koolen-de Vries syndrome
Intellectual disability
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA399979530 rs_1427624649

7 SubmittersRCV000622541RCV000852304RCV001257584RCV005429261

NM_015443.4(KANSL1):c.1157G>T (p.Ser386Ile) SNV
Germline
Chr17:46170987 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8618883 rs_143589497

3 SubmittersRCV000644670RCV001584486

NM_015443.4(KANSL1):c.1949A>G (p.Tyr650Cys) SNV
Germline
Chr17:46050604 Conflicting classifications of pathogenicity Koolen-de Vries syndrome Criteria Provided
Conflicting Classifications
CA8618677 rs_777228945

2 SubmittersRCV000690662

NM_015443.4(KANSL1):c.2406C>A (p.His802Gln) SNV
Germline
Chr17:46038673 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8618570 rs_773681267

3 SubmittersRCV000803522RCV002534750

NM_015443.4(KANSL1):c.1256C>G (p.Thr419Ser) SNV
Germline
Chr17:46170888 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
not specified
Criteria Provided
Conflicting Classifications
CA399978559 rs_1597870423

2 SubmittersRCV000803432RCV005436067

NM_015443.4(KANSL1):c.1794C>A (p.Ser598Arg) SNV
Germline
Chr17:46066591 Conflicting classifications of pathogenicity Condition: not provided
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA8618731 rs_749811911

2 SubmittersRCV000828324RCV001197425

NM_015443.4(KANSL1):c.117C>T (p.Asn39=) SNV
Germline
Chr17:46172027 Conflicting classifications of pathogenicity Condition: not provided
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA8619105 rs_747136051

2 SubmittersRCV000996571RCV001443473

NM_015443.4(KANSL1):c.674A>G (p.Asn225Ser) SNV
Germline
Chr17:46171470 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8619000 rs_766543331

3 SubmittersRCV001034508RCV005582492

NM_015443.4(KANSL1):c.73C>G (p.Pro25Ala) SNV
Germline
Chr17:46172071 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8619120 rs_778091394

2 SubmittersRCV001034490RCV002552445

NM_015443.4(KANSL1):c.2510G>T (p.Ser837Ile) SNV
Germline
Chr17:46038569 Conflicting classifications of pathogenicity Koolen-de Vries syndrome Criteria Provided
Conflicting Classifications
CA8618549 rs_770500282

2 SubmittersRCV001042710

NM_015443.4(KANSL1):c.850A>G (p.Ile284Val) SNV
Germline
Chr17:46171294 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8618942 rs_766991003

2 SubmittersRCV001041321RCV001310365

NM_015443.4(KANSL1):c.442G>A (p.Ala148Thr) SNV
Germline
Chr17:46171702 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8619053 rs_140089320

3 SubmittersRCV001048513RCV004629421

NM_015443.4(KANSL1):c.3031C>T (p.Arg1011Ter) SNV
Germline
Chr17:46032106 Pathogenic/Likely pathogenic Koolen-de Vries syndrome
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA399986465 rs_779686052

3 SubmittersRCV001221185RCV005348366

NM_015443.4(KANSL1):c.992A>G (p.Lys331Arg) SNV
Germline
Chr17:46171152 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8618912 rs_570475423

3 SubmittersRCV001223492RCV005582604

NM_015443.4(KANSL1):c.631C>G (p.Pro211Ala) SNV
Germline
Chr17:46171513 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8619010 rs_745305837

3 SubmittersRCV001206043RCV005348351

NM_015443.4(KANSL1):c.2837+2T>C SNV
Germline
Chr17:46033078 Pathogenic Koolen-de Vries syndrome Criteria Provided
Single Submitter
CA399987427 rs_975947508

2 SubmittersRCV001215137

NM_015443.4(KANSL1):c.2792G>A (p.Arg931Gln) SNV
Germline
Chr17:46033125 Conflicting classifications of pathogenicity Koolen-de Vries syndrome Criteria Provided
Conflicting Classifications
CA399987602 rs_1400431996

2 SubmittersRCV001230527

NM_015443.4(KANSL1):c.898A>G (p.Arg300Gly) SNV
Germline
Chr17:46171246 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8618926 rs_780539765

2 SubmittersRCV001227608RCV004629502

NM_015443.4(KANSL1):c.3289G>C (p.Ala1097Pro) SNV
Germline
Chr17:46031505 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA399985517 rs_2077005160

2 SubmittersRCV001248303RCV003481034

NM_015443.4(KANSL1):c.2902C>T (p.Gln968Ter) SNV
Germline
Chr17:46032235 Likely pathogenic Koolen-de Vries syndrome No Assertion Criteria Provided
CA399987209 rs_2077030838

1 SubmittersRCV001283793

NM_015443.4(KANSL1):c.2269G>A (p.Val757Met) SNV
Germline
Chr17:46039150 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8618613 rs_749337566

3 SubmittersRCV001302543RCV004036242

NM_015443.4(KANSL1):c.1856G>A (p.Arg619Gln) SNV
Germline
Chr17:46050697 Conflicting classifications of pathogenicity Koolen-de Vries syndrome Criteria Provided
Conflicting Classifications
CA399984223 rs_1424923651

2 SubmittersRCV001299342

NM_015443.4(KANSL1):c.1180A>G (p.Ser394Gly) SNV
Germline
Chr17:46170964 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8618880 rs_751709708

3 SubmittersRCV001322696RCV001586124RCV005582694

NM_015443.4(KANSL1):c.902T>A (p.Leu301Ter) SNV
Germline
Chr17:46171242 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA399980280 rs_1189248208

2 SubmittersRCV001313644RCV002260700

NM_015443.4(KANSL1):c.727C>T (p.Gln243Ter) SNV
Germline
Chr17:46171417 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA399980984 rs_142096969

3 SubmittersRCV001372638RCV003883619

NM_015443.4(KANSL1):c.33A>G (p.Ala11=) SNV
Germline
Chr17:46172111 Conflicting classifications of pathogenicity Koolen-de Vries syndrome Criteria Provided
Conflicting Classifications
CA8619124 rs_769676607

2 SubmittersRCV001480912

NM_015443.4(KANSL1):c.1420C>T (p.Arg474Cys) SNV
Germline
Chr17:46094571 Pathogenic Koolen-de Vries syndrome No Assertion Criteria Provided
CA399996270 rs_1018963624

1 SubmittersRCV001788540

NM_015443.4(KANSL1):c.2111C>T (p.Ser704Leu) SNV
Germline
Chr17:46039794 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8618655 rs_762407803

3 SubmittersRCV001518934RCV003339661RCV004710288

NM_015443.4(KANSL1):c.3193C>T (p.Arg1065Ter) SNV
Germline
Chr17:46031601 Conflicting classifications of pathogenicity Condition: not provided
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA399985975 rs_2146300587

2 SubmittersRCV001570916RCV002072209

NM_015443.4(KANSL1):c.1726C>T (p.Arg576Ter) SNV
Germline
Chr17:46066659 Pathogenic Condition: not provided
Koolen-de Vries syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA399986803 rs_2146658002

3 SubmittersRCV001584906RCV002570832

NM_015443.4(KANSL1):c.1057G>A (p.Ala353Thr) SNV
Germline
Chr17:46171087 Conflicting classifications of pathogenicity Condition: not provided
Koolen-de Vries syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA399979468 rs_1466777621

3 SubmittersRCV001589575RCV001866122RCV004988694

NM_015443.4(KANSL1):c.295C>T (p.Gln99Ter) SNV
Germline
Chr17:46171849 Likely pathogenic Koolen-de Vries syndrome Criteria Provided
Single Submitter
CA399982345 rs_2147749507

1 SubmittersRCV001782325

NM_015443.4(KANSL1):c.2542-1G>A SNV
Germline
Chr17:46034286 Conflicting classifications of pathogenicity Koolen-de Vries syndrome Criteria Provided
Conflicting Classifications
CA291128164 rs_111514883

2 SubmittersRCV001808916

NM_015443.4(KANSL1):c.3292A>G (p.Thr1098Ala) SNV
Germline
Chr17:46031502 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA399985501 rs_1470593799

2 SubmittersRCV002036739RCV005585099

NM_015443.4(KANSL1):c.2497C>T (p.Pro833Ser) SNV
Germline
Chr17:46038582 Conflicting classifications of pathogenicity Koolen-de Vries syndrome Criteria Provided
Conflicting Classifications
CA399980229 rs_2146357893

2 SubmittersRCV001980267

NM_015443.4(KANSL1):c.2860C>T (p.Arg954Trp) SNV
Germline
Chr17:46032277 Conflicting classifications of pathogenicity Koolen-de Vries syndrome Criteria Provided
Conflicting Classifications
CA399987320 rs_1322831151

2 SubmittersRCV001893521

NM_015443.4(KANSL1):c.890G>A (p.Arg297His) SNV
Germline
Chr17:46171254 Conflicting classifications of pathogenicity Koolen-de Vries syndrome Criteria Provided
Conflicting Classifications
CA8618929 rs_748350342

2 SubmittersRCV002017657

NM_015443.4(KANSL1):c.2861G>A (p.Arg954Gln) SNV
Germline
Chr17:46032276 Conflicting classifications of pathogenicity Koolen-de Vries syndrome Criteria Provided
Conflicting Classifications
CA8618427 rs_376635152

2 SubmittersRCV002029374

NM_015443.4(KANSL1):c.2900C>A (p.Pro967His) SNV
Germline
Chr17:46032237 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8618420 rs_770177501

3 SubmittersRCV002114234RCV003269129

NM_015443.4(KANSL1):c.1533+7A>G SNV
Germline
Chr17:46082434 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
not specified
Criteria Provided
Conflicting Classifications
CA2262134752 rs_2079019657

2 SubmittersRCV002192984RCV005057993

NM_015443.4(KANSL1):c.2450C>G (p.Pro817Arg) SNV
Germline
Chr17:46038629 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA291108148 rs_200086055

3 SubmittersRCV002195689RCV005585130

NM_015443.4(KANSL1):c.3146A>T (p.Glu1049Val) SNV
Germline
Chr17:46031648 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA399986072 rs_771796347

2 SubmittersRCV002201413RCV004982935

NM_015443.4(KANSL1):c.2470C>T (p.Arg824Ter) SNV
Germline
Chr17:46038609 Pathogenic Condition: not provided
Koolen-de Vries syndrome
KANSL1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA399980342 rs_2077221203

5 SubmittersRCV002244482RCV003093950RCV003403743

NM_015443.4(KANSL1):c.1325G>C (p.Arg442Pro) SNV
Germline
Chr17:46094666 Likely pathogenic Koolen-de Vries syndrome Criteria Provided
Single Submitter
CA399996802 rs_1480307304

1 SubmittersRCV002249082

NM_015443.4(KANSL1):c.1347G>A (p.Trp449Ter) SNV
Germline
Chr17:46094644 Likely pathogenic Koolen-de Vries syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA399996685 rs_2146947345

2 SubmittersRCV002251283

NM_015443.4(KANSL1):c.2284C>T (p.Arg762Ter) SNV
Germline
Chr17:46039135 Pathogenic/Likely pathogenic See cases
Koolen-de Vries syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA399981175 rs_2146363405

3 SubmittersRCV002254897RCV003989140RCV006258776

NM_015443.4(KANSL1):c.2392+19C>T SNV
Germline
Chr17:46039008 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Sarcoma
Criteria Provided
Conflicting Classifications
CA8618591 rs_200777153

3 SubmittersRCV002581598RCV005930511

NM_015443.4(KANSL1):c.2220A>G (p.Gln740=) SNV
Germline
Chr17:46039199 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA500369978 rs_1339429545

2 SubmittersRCV002766475RCV004774732

NM_015443.4(KANSL1):c.2020+1G>A SNV
Germline
Chr17:46050532 Pathogenic Inborn genetic diseases
Koolen-de Vries syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA399983758 rs_2510648438

2 SubmittersRCV002728122RCV003326022

NM_015443.4(KANSL1):c.2458A>G (p.Ser820Gly) SNV
Germline
Chr17:46038621 Conflicting classifications of pathogenicity Koolen-de Vries syndrome Criteria Provided
Conflicting Classifications
CA399980390 rs_1355589929

2 SubmittersRCV003131296

NM_015443.4(KANSL1):c.2660C>A (p.Thr887Lys) SNV
Germline
Chr17:46034167 Likely pathogenic Koolen-de Vries syndrome Criteria Provided
Single Submitter
CA399988905 rs_779806189

1 SubmittersRCV003159300

NM_015443.4(KANSL1):c.1775G>A (p.Arg592Gln) SNV
Germline
Chr17:46066610 Conflicting classifications of pathogenicity Condition: not provided
Koolen-de Vries syndrome
Criteria Provided
Conflicting Classifications
CA399986478 rs_2510757518

2 SubmittersRCV003236117RCV004556097

NM_015443.4(KANSL1):c.2695A>T (p.Lys899Ter) SNV
Germline
Chr17:46033432 Likely pathogenic Koolen-de Vries syndrome Criteria Provided
Single Submitter
CA399988631 rs_2510393718

1 SubmittersRCV003885325

NM_015443.4(KANSL1):c.1533+1G>A SNV
Germline
Chr17:46082440 Likely pathogenic Koolen-de Vries syndrome Criteria Provided
Single Submitter
CA8618801 rs_771780488

1 SubmittersRCV003529631

NM_015443.4(KANSL1):c.3151G>A (p.Glu1051Lys) SNV
Germline
Chr17:46031643 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA399986063 rs_2510354948

2 SubmittersRCV003527867RCV005587455

NM_015443.4(KANSL1):c.2104A>T (p.Lys702Ter) SNV
Germline
Chr17:46039801 Pathogenic Koolen-de Vries syndrome Criteria Provided
Single Submitter
CA399982411 rs_2510501074

1 SubmittersRCV003644409

NM_015443.4(KANSL1):c.3176G>A (p.Arg1059Gln) SNV
Germline
Chr17:46031618 Conflicting classifications of pathogenicity Koolen-de Vries syndrome
not specified
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8618353 rs_780165589

3 SubmittersRCV003839827RCV003994595RCV006373081

NM_015443.4(KANSL1):c.2801G>A (p.Trp934Ter) SNV
Germline
Chr17:46033116 Likely pathogenic Koolen-de Vries syndrome Criteria Provided
Single Submitter
CA399987568 rs_1470562852

1 SubmittersRCV004555510

NM_015443.4(KANSL1):c.1396C>T (p.Gln466Ter) SNV
Germline
Chr17:46094595 Pathogenic Koolen-de Vries syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004596024

NM_015443.4(KANSL1):c.925C>T (p.Gln309Ter) SNV
Germline
Chr17:46171219 Likely pathogenic Koolen-de Vries syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005020409

NM_015443.4(KANSL1):c.1978C>T (p.Gln660Ter) SNV
Germline
Chr17:46050575 Likely pathogenic Koolen-de Vries syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005603994

NM_015443.4(KANSL1):c.2542-1G>C SNV
Germline
Chr17:46034286 Likely pathogenic Koolen-de Vries syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005636482

NM_015443.4(KANSL1):c.1289+2T>C SNV
Germline
Chr17:46170853 Likely pathogenic Koolen-de Vries syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005861946

NM_015443.4(KANSL1):c.1290-1G>A SNV
Germline
Chr17:46094702 Likely pathogenic Koolen-de Vries syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005886034

NM_015443.4(KANSL1):c.2393-2A>G SNV
Germline
Chr17:46038688 Likely pathogenic Koolen-de Vries syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005882913

NM_015443.4(KANSL1):c.1804C>T (p.Arg602Trp) SNV
Germline
Chr17:46066581 Pathogenic Koolen-de Vries syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006586869