Total 31 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
Optic disc pallor
Horseshoe kidney
Aortic root aneurysm
Mitral valve prolapse
Hypotelorism
Neurodevelopmental disorder
Intellectual disability
See cases
Global developmental delay
PACS1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA204795 rs_398123009

48 SubmittersRCV000032781RCV000210719RCV000429725RCV001095741RCV000735338RCV001375021RCV001310258RCV002251940RCV001255394RCV003398585

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
Condition: not provided
Schuurs-Hoeijmakers syndrome
Inborn genetic diseases
PACS1-related disorder
Criteria Provided
Conflicting Classifications
CA206268 rs_61736585

6 SubmittersRCV000193039RCV000954027RCV002057007RCV002426927RCV003977520

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

4 SubmittersRCV000500577RCV002481623RCV003960176

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

3 SubmittersRCV001655573RCV002312794RCV002534536

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

2 SubmittersRCV000761781RCV002533879

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
rs_115491121

4 SubmittersRCV000952015RCV001638020RCV003970734

NM_018026.4(PACS1):c.2404A>G (p.Met802Val) SNV
Germline
Chr11:66239252 Conflicting classifications of pathogenicity Intellectual disability
Schuurs-Hoeijmakers syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_754776375

3 SubmittersRCV001252092RCV002570489RCV004035313

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
rs_115813669

2 SubmittersRCV001310967RCV002543565

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

2 SubmittersRCV001333987

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

4 SubmittersRCV002554091RCV001420621RCV001762678

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
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
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
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
Criteria Provided
Conflicting Classifications
rs_148237222

2 SubmittersRCV001566702RCV002568440

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
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
rs_201700614

4 SubmittersRCV001590038RCV002579476RCV003246993

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
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
rs_780310274

2 SubmittersRCV001771297RCV002540529

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
rs_781666830

2 SubmittersRCV001815723RCV002541510

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

3 SubmittersRCV001819188RCV003318693RCV003653498

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

2 SubmittersRCV001837303

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

3 SubmittersRCV002225959RCV002027597RCV002550459

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

3 SubmittersRCV002282909RCV002454612RCV003096346

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

1 SubmittersRCV002465456

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

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

2 SubmittersRCV003013281

NM_018026.4(PACS1):c.1994-7C>T SNV
Germline
Chr11:66234125 Conflicting classifications of pathogenicity not specified
Schuurs-Hoeijmakers syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV003404716RCV003649456