Total 47 pathogenic variants reported for Schuurs-Hoeijmakers syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) SNV
Germline
Chr11:66211206 Pathogenic/Likely pathogenic Schuurs-Hoeijmakers syndrome
Inborn genetic diseases
Condition: not provided
PACS1-related syndrome
Global developmental delay
Neurodevelopmental disorder
Intellectual disability
See cases
PACS1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA204795 rs_398123009

53 SubmittersRCV000032781RCV000210719RCV000429725RCV001095741RCV001255394RCV001375021RCV001310258RCV002251940RCV003398585

NM_018026.4(PACS1):c.1803C>T (p.Ala601=) SNV
Germline
Chr11:66233031 Conflicting classifications of pathogenicity not specified
Schuurs-Hoeijmakers syndrome
Criteria Provided
Conflicting Classifications
CA209812 rs_371400214

2 SubmittersRCV000195169RCV003650445

NM_018026.4(PACS1):c.2139C>T (p.Tyr713=) SNV
Germline
Chr11:66235335 Conflicting classifications of pathogenicity not specified
Schuurs-Hoeijmakers syndrome
Condition: not provided
Inborn genetic diseases
PACS1-related disorder
Criteria Provided
Conflicting Classifications
CA206268 rs_61736585

6 SubmittersRCV000193039RCV002057007RCV000954027RCV002426927RCV003977520

NM_018026.4(PACS1):c.650A>G (p.Asn217Ser) SNV
Germline
Chr11:66211249 Conflicting classifications of pathogenicity not specified
Schuurs-Hoeijmakers syndrome
PACS1-related disorder
Criteria Provided
Conflicting Classifications
CA6116297 rs_767885129

5 SubmittersRCV000500577RCV002481623RCV003960176

NM_018026.4(PACS1):c.2527G>A (p.Ala843Thr) SNV
Germline
Chr11:66241524 Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6116898 rs_369846760

3 SubmittersRCV000553865RCV003403326

NM_018026.4(PACS1):c.2207+5G>C SNV
Germline
Chr11:66235408 Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA599857573 rs_1285923468

2 SubmittersRCV000532652RCV003159908

NM_018026.4(PACS1):c.430G>A (p.Ala144Thr) SNV
Germline
Chr11:66193559 Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA223456703 rs_201877943

2 SubmittersRCV005092076RCV002314474

NM_018026.4(PACS1):c.563A>G (p.Asn188Ser) SNV
Germline
Chr11:66211162 Conflicting classifications of pathogenicity Condition: not provided
Schuurs-Hoeijmakers syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6116289 rs_200950761

3 SubmittersRCV001655573RCV002534536RCV002312794

NM_018026.4(PACS1):c.2541C>T (p.Asn847=) SNV
Germline
Chr11:66241538 Conflicting classifications of pathogenicity Condition: not provided
Schuurs-Hoeijmakers syndrome
Criteria Provided
Conflicting Classifications
CA475312686 rs_1422464917

2 SubmittersRCV000729062RCV005092134

NM_018026.4(PACS1):c.1098G>C (p.Leu366Phe) SNV
Germline
Chr11:66220690 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Schuurs-Hoeijmakers syndrome
not specified
Criteria Provided
Conflicting Classifications
CA6116479 rs_778653156

4 SubmittersRCV000761781RCV005453084RCV002533879RCV005436047

NM_018026.4(PACS1):c.385G>A (p.Val129Ile) SNV
Germline
Chr11:66193514 Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome
Condition: not provided
PACS1-related disorder
Criteria Provided
Conflicting Classifications
CA6116231 rs_115491121

4 SubmittersRCV000952015RCV001638020RCV003970734

NM_018026.4(PACS1):c.1495G>A (p.Val499Met) SNV
Germline
Chr11:66230809 Conflicting classifications of pathogenicity Condition: not provided
Schuurs-Hoeijmakers syndrome
Criteria Provided
Conflicting Classifications
CA6116596 rs_115813669

3 SubmittersRCV001310967RCV002543565

NM_018026.4(PACS1):c.661-15T>A SNV
Germline
Chr11:66216104 Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome Criteria Provided
Conflicting Classifications
CA1979584248 rs_1565150720

2 SubmittersRCV001333987

NM_018026.4(PACS1):c.2281C>A (p.Pro761Thr) SNV
Germline
Chr11:66238834 Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6116830 rs_578033982

4 SubmittersRCV001420621RCV002554091RCV001762678

NM_018026.4(PACS1):c.1079G>A (p.Arg360Gln) SNV
Germline
Chr11:66220671 Conflicting classifications of pathogenicity Condition: not provided
Schuurs-Hoeijmakers syndrome
Criteria Provided
Conflicting Classifications
CA6116478 rs_756287691

2 SubmittersRCV001547371RCV003653482

NM_018026.4(PACS1):c.1516C>T (p.Arg506Trp) SNV
Germline
Chr11:66230830 Conflicting classifications of pathogenicity Condition: not provided
Schuurs-Hoeijmakers syndrome
Criteria Provided
Conflicting Classifications
CA6116601 rs_373127343

2 SubmittersRCV001545644RCV001859365

NM_018026.4(PACS1):c.1838+3A>G SNV
Germline
Chr11:66233069 Conflicting classifications of pathogenicity Condition: not provided
Schuurs-Hoeijmakers syndrome
Criteria Provided
Conflicting Classifications
CA6116683 rs_775980710

2 SubmittersRCV001552798RCV003106232

NM_018026.4(PACS1):c.1412C>T (p.Thr471Met) SNV
Germline
Chr11:66230585 Conflicting classifications of pathogenicity Condition: not provided
Schuurs-Hoeijmakers syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6116564 rs_148237222

3 SubmittersRCV001566702RCV002568440RCV004952986

NM_018026.4(PACS1):c.401T>C (p.Met134Thr) SNV
Germline
Chr11:66193530 Conflicting classifications of pathogenicity Condition: not provided
Schuurs-Hoeijmakers syndrome
Intellectual disability
PACS1-related disorder
Criteria Provided
Conflicting Classifications
CA223456696 rs_765325642

4 SubmittersRCV001571548RCV002569053RCV005626449RCV005250193

NM_018026.4(PACS1):c.2087C>T (p.Ser696Leu) SNV
Germline
Chr11:66234225 Conflicting classifications of pathogenicity Condition: not provided
Schuurs-Hoeijmakers syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6116759 rs_764689853

3 SubmittersRCV001571283RCV001866028RCV004039371

NM_018026.4(PACS1):c.1760G>A (p.Arg587Gln) SNV
Germline
Chr11:66232988 Conflicting classifications of pathogenicity Condition: not provided
Schuurs-Hoeijmakers syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6116668 rs_201700614

4 SubmittersRCV001590038RCV002579476RCV003246993

NM_018026.4(PACS1):c.2450G>C (p.Gly817Ala) SNV
Germline
Chr11:66241447 Conflicting classifications of pathogenicity Condition: not provided
Schuurs-Hoeijmakers syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA381381450 rs_1855812873

3 SubmittersRCV001733030RCV002539819RCV004953008

NM_018026.4(PACS1):c.2327C>G (p.Thr776Ser) SNV
Germline
Chr11:66239175 Conflicting classifications of pathogenicity Condition: not provided
Schuurs-Hoeijmakers syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6116852 rs_140167187

3 SubmittersRCV001732797RCV002539823RCV003247006

NM_018026.4(PACS1):c.1588G>A (p.Asp530Asn) SNV
Germline
Chr11:66230902 Conflicting classifications of pathogenicity Condition: not provided
Schuurs-Hoeijmakers syndrome
Criteria Provided
Conflicting Classifications
CA6116609 rs_780310274

2 SubmittersRCV001771297RCV002540529

NM_018026.4(PACS1):c.2413G>A (p.Ala805Thr) SNV
Germline
Chr11:66239261 Conflicting classifications of pathogenicity Condition: not provided
Schuurs-Hoeijmakers syndrome
not specified
Criteria Provided
Conflicting Classifications
CA6116871 rs_184092629

3 SubmittersRCV001779914RCV002541110RCV005419208

NM_018026.4(PACS1):c.1442C>T (p.Thr481Ile) SNV
Germline
Chr11:66230615 Conflicting classifications of pathogenicity Condition: not provided
Schuurs-Hoeijmakers syndrome
Criteria Provided
Conflicting Classifications
CA6116571 rs_781666830

2 SubmittersRCV001815723RCV002541510

NM_018026.4(PACS1):c.460C>A (p.Leu154Ile) SNV
Germline
Chr11:66210377 Conflicting classifications of pathogenicity not specified
Schuurs-Hoeijmakers syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA381339007 rs_2134698831

3 SubmittersRCV001819188RCV003653498RCV003318693

NM_018026.4(PACS1):c.1286C>G (p.Thr429Ser) SNV
Germline
Chr11:66221240 Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome Criteria Provided
Conflicting Classifications
CA6116517 rs_760985201

2 SubmittersRCV001837303

NM_018026.4(PACS1):c.676A>C (p.Asn226His) SNV
Germline
Chr11:66216134 Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA381347094 rs_1175983246

2 SubmittersRCV002004983RCV005465647

NM_018026.4(PACS1):c.712G>A (p.Val238Met) SNV
Germline
Chr11:66216170 Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6116325 rs_377164490

2 SubmittersRCV002043270RCV005382358

NM_018026.4(PACS1):c.2296G>A (p.Asp766Asn) SNV
Germline
Chr11:66239144 Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6116845 rs_375682747

4 SubmittersRCV002027597RCV002225959RCV002550459

NM_018026.4(PACS1):c.2299G>A (p.Gly767Arg) SNV
Germline
Chr11:66239147 Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA381377931 rs_2134748638

2 SubmittersRCV002003938RCV005455483

NM_018026.4(PACS1):c.1574G>A (p.Arg525Lys) SNV
Germline
Chr11:66230888 Pathogenic Schuurs-Hoeijmakers syndrome Criteria Provided
Single Submitter
CA381367630 rs_2134735819

1 SubmittersRCV002250169

NM_018026.4(PACS1):c.2305G>A (p.Asp769Asn) SNV
Germline
Chr11:66239153 Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6116846 rs_751638632

3 SubmittersRCV002266702RCV003403762

NM_018026.4(PACS1):c.357-4C>T SNV
Germline
Chr11:66193482 Conflicting classifications of pathogenicity not specified
Inborn genetic diseases
Schuurs-Hoeijmakers syndrome
Criteria Provided
Conflicting Classifications
CA6116223 rs_372582742

3 SubmittersRCV002282909RCV002454612RCV003096346

NM_018026.4(PACS1):c.298C>T (p.Gln100Ter) SNV
Germline
Chr11:66070784 Likely pathogenic Schuurs-Hoeijmakers syndrome Criteria Provided
Single Submitter
CA381508065 rs_2495230982

1 SubmittersRCV002465456

NM_018026.4(PACS1):c.2140G>A (p.Val714Ile) SNV
Germline
Chr11:66235336 Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6116791 rs_140998295

2 SubmittersRCV002659656RCV005382592

NM_018026.4(PACS1):c.1238C>T (p.Thr413Met) SNV
Germline
Chr11:66221192 Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome Criteria Provided
Conflicting Classifications
CA6116511 rs_769140907

2 SubmittersRCV002914706

NM_018026.4(PACS1):c.444+9G>A SNV
Germline
Chr11:66193582 Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome Criteria Provided
Conflicting Classifications
CA6116240 rs_748523504

2 SubmittersRCV003013281

NM_018026.4(PACS1):c.1427C>A (p.Pro476Gln) SNV
Germline
Chr11:66230600 Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA381366434 rs_562418648

2 SubmittersRCV003538132RCV005387208

NM_018026.4(PACS1):c.943C>G (p.Arg315Gly) SNV
Germline
Chr11:66216740 Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome
not specified
Criteria Provided
Conflicting Classifications
CA381351504 rs_371513573

2 SubmittersRCV003649841RCV005435247

NM_018026.4(PACS1):c.1523A>G (p.Lys508Arg) SNV
Germline
Chr11:66230837 Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome
Inborn genetic diseases
not specified
Criteria Provided
Conflicting Classifications
CA381367186 rs_1406197729

3 SubmittersRCV003653809RCV004953389RCV004690454

NM_018026.4(PACS1):c.2494G>A (p.Gly832Arg) SNV
Germline
Chr11:66241491 Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome
not specified
Criteria Provided
Conflicting Classifications
CA381381987 rs_1590844551

2 SubmittersRCV003650032RCV004801385

NM_018026.4(PACS1):c.710A>G (p.Asn237Ser) SNV
Germline
Chr11:66216168 Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6116323 rs_751491596

2 SubmittersRCV003650134RCV004953449

NM_018026.4(PACS1):c.1423G>A (p.Val475Met) SNV
Germline
Chr11:66230596 Conflicting classifications of pathogenicity PACS1-related disorder
Schuurs-Hoeijmakers syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6116568 rs_778277597

3 SubmittersRCV003949703RCV005101884RCV005455914

NM_018026.4(PACS1):c.806-12T>C SNV
Germline
Chr11:66216508 Conflicting classifications of pathogenicity not specified
Schuurs-Hoeijmakers syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004783290RCV005105039