Total 69 pathogenic variants reported for Popliteal pterygium syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_006147.4(IRF6):c.274G>T (p.Glu92Ter) SNV
Germline		 Chr1:209796453 Pathogenic Van der Woude syndrome 1
Orofacial cleft 6, susceptibility to
Popliteal pterygium syndrome
Van der Woude syndrome		 Criteria Provided
Single Submitter
 CA252750 rs_121434224

3 SubmittersRCV000003580RCV003764523
NM_006147.4(IRF6):c.1177C>T (p.Gln393Ter) SNV
Germline		 Chr1:209789669 Pathogenic Popliteal pterygium syndrome No Assertion Criteria Provided
 CA252754 rs_121434225

1 SubmittersRCV000003582
NM_006147.4(IRF6):c.250C>T (p.Arg84Cys) SNV
Germline		 Chr1:209796477 Pathogenic Popliteal pterygium syndrome
Condition: not provided
Autosomal dominant popliteal pterygium syndrome
Orofacial cleft 6, susceptibility to
Popliteal pterygium syndrome
Van der Woude syndrome
IRF6-related condition		 Criteria Provided
Multiple Submitters
No Conflicts
 CA252756 rs_121434226

6 SubmittersRCV000003583RCV000255145RCV001775062RCV002227986RCV004554583
NM_006147.4(IRF6):c.251G>A (p.Arg84His) SNV
Germline		 Chr1:209796476 Pathogenic Popliteal pterygium syndrome
Condition: not provided
Orofacial cleft 6, susceptibility to
Popliteal pterygium syndrome
Van der Woude syndrome
Autosomal dominant popliteal pterygium syndrome
Van der Woude syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA252757 rs_121434227

5 SubmittersRCV000003584RCV000489578RCV001040643RCV001775063RCV001261361
NM_006147.4(IRF6):c.16C>T (p.Arg6Cys) SNV
Germline		 Chr1:209801398 Pathogenic/Likely pathogenic Van der Woude syndrome 1
Cleft palate
Condition: not provided
Orofacial cleft 6, susceptibility to
Popliteal pterygium syndrome
Van der Woude syndrome 1
IRF6-related condition		 Criteria Provided
Multiple Submitters
No Conflicts
 CA252759 rs_28942094

5 SubmittersRCV000003586RCV000414901RCV000413551RCV000762880RCV004730834
NM_006147.4(IRF6):c.1198C>T (p.Arg400Trp) SNV
Germline		 Chr1:209788626 Pathogenic Van der Woude syndrome 1
Orofacial cleft 6, susceptibility to
Popliteal pterygium syndrome
Van der Woude syndrome		 Criteria Provided
Single Submitter
 CA252762 rs_28942095

2 SubmittersRCV000003588RCV001060699
NM_006147.4(IRF6):c.134G>A (p.Arg45Gln) SNV
Germline		 Chr1:209801280 Conflicting classifications of pathogenicity Van der Woude syndrome 1
Condition: not provided
Orofacial cleft 6, susceptibility to
Popliteal pterygium syndrome
Van der Woude syndrome
Van der Woude syndrome		 Criteria Provided
Conflicting Classifications
 CA252764 rs_121434229

4 SubmittersRCV000003590RCV002253193RCV003764524RCV003314548
NM_006147.4(IRF6):c.1016G>T (p.Arg339Ile) SNV
Germline		 Chr1:209790539 Pathogenic Van der Woude syndrome 1
Popliteal pterygium syndrome		 No Assertion Criteria Provided
 CA252766 rs_121434231

1 SubmittersRCV000003592RCV000023627
NM_006147.4(IRF6):c.65T>C (p.Leu22Pro) SNV
Germline		 Chr1:209801349 Pathogenic Van der Woude syndrome 1
Popliteal pterygium syndrome		 No Assertion Criteria Provided
 CA259875 rs_387906967

1 SubmittersRCV000023628RCV000023629
NM_006147.4(IRF6):c.251G>T (p.Arg84Leu) SNV
Germline		 Chr1:209796476 Pathogenic Popliteal pterygium syndrome No Assertion Criteria Provided
 CA259876 rs_121434227

1 SubmittersRCV000023630
NM_006147.4(IRF6):c.1271C>T (p.Ser424Leu) SNV
Germline		 Chr1:209788553 Pathogenic Popliteal pterygium syndrome No Assertion Criteria Provided
 CA259877 rs_387906968

1 SubmittersRCV000023631
NM_006147.4(IRF6):c.145C>T (p.Gln49Ter) SNV
Germline		 Chr1:209801269 Pathogenic Van der Woude syndrome 1
Popliteal pterygium syndrome
Orofacial cleft 6, susceptibility to
Van der Woude syndrome		 Criteria Provided
Single Submitter
 CA261244 rs_397515434

2 SubmittersRCV000033164RCV001037238
NM_006147.4(IRF6):c.1210G>A (p.Glu404Lys) SNV
Germline		 Chr1:209788614 Pathogenic/Likely pathogenic Condition: not provided
Van der Woude syndrome 1
Orofacial cleft 6, susceptibility to
Van der Woude syndrome
Popliteal pterygium syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA277849 rs_769068305

3 SubmittersRCV000430826RCV000201948RCV002229128
NM_006147.4(IRF6):c.1316T>C (p.Leu439Pro) SNV
Germline		 Chr1:209788508 Pathogenic Popliteal pterygium syndrome No Assertion Criteria Provided
 CA10586692 rs_886038202

1 SubmittersRCV000241540
NM_006147.4(IRF6):c.226C>T (p.Pro76Ser) SNV
Germline		 Chr1:209796501 Pathogenic Condition: not provided
Popliteal pterygium syndrome
Van der Woude syndrome
Orofacial cleft 6, susceptibility to		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588279 rs_886039388

2 SubmittersRCV000255718RCV000640123
NM_006147.4(IRF6):c.454C>T (p.Gln152Ter) SNV
Germline		 Chr1:209795344 Pathogenic/Likely pathogenic Condition: not provided
Orofacial cleft 6, susceptibility to
Popliteal pterygium syndrome
Van der Woude syndrome
IRF6-related condition		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16603558 rs_1057520738

3 SubmittersRCV000443013RCV001851052RCV004554773
NM_006147.4(IRF6):c.911T>C (p.Leu304Pro) SNV
Germline		 Chr1:209790644 Conflicting classifications of pathogenicity Condition: not provided
Van der Woude syndrome
Orofacial cleft 6, susceptibility to
Popliteal pterygium syndrome		 Criteria Provided
Conflicting Classifications
 CA16617047 rs_1064793154

3 SubmittersRCV000729840RCV002525763
NM_006147.4(IRF6):c.25C>T (p.Arg9Trp) SNV
Germline		 Chr1:209801389 Pathogenic/Likely pathogenic Condition: not provided
Van der Woude syndrome 1
Orofacial cleft 6, susceptibility to
Popliteal pterygium syndrome
Van der Woude syndrome
IRF6-related condition		 Criteria Provided
Multiple Submitters
No Conflicts
 CA344586104 rs_1553248641

4 SubmittersRCV000521480RCV000590928RCV002231203RCV004758697
NM_006147.4(IRF6):c.1060+1G>A SNV
Germline		 Chr1:209790494 Pathogenic/Likely pathogenic Orofacial cleft 6, susceptibility to
Popliteal pterygium syndrome
Van der Woude syndrome
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA344575003 rs_781506407

2 SubmittersRCV001378874RCV002527688
NM_006147.4(IRF6):c.749G>A (p.Arg250Gln) SNV
Germline		 Chr1:209790806 Pathogenic Orofacial cleft 6, susceptibility to
Popliteal pterygium syndrome
Van der Woude syndrome
IRF6-related condition		 Criteria Provided
Multiple Submitters
No Conflicts
 CA344577550 rs_1553247774

2 SubmittersRCV002231279RCV004554796
NM_006147.4(IRF6):c.232A>G (p.Lys78Glu) SNV
Germline		 Chr1:209796495 Likely pathogenic Orofacial cleft 6, susceptibility to
Popliteal pterygium syndrome
Van der Woude syndrome		 Criteria Provided
Single Submitter
 CA344583446 rs_1553248271

1 SubmittersRCV001376737
NM_006147.4(IRF6):c.1234C>T (p.Arg412Ter) SNV
Germline		 Chr1:209788590 Pathogenic Van der Woude syndrome 1
Orofacial cleft 6, susceptibility to
Popliteal pterygium syndrome
Van der Woude syndrome
Condition: not provided
Van der Woude syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA344573331 rs_1553247595

4 SubmittersRCV000556227RCV000684776RCV001584247RCV003314608
NM_006147.4(IRF6):c.120G>T (p.Trp40Cys) SNV
Germline		 Chr1:209801294 Pathogenic Orofacial cleft 6, susceptibility to
Popliteal pterygium syndrome
Van der Woude syndrome		 Criteria Provided
Single Submitter
 CA344585590 rs_1553248635

1 SubmittersRCV001378521
NM_006147.4(IRF6):c.889G>A (p.Val297Ile) SNV
Germline		 Chr1:209790666 Likely pathogenic Orofacial cleft 6, susceptibility to
Popliteal pterygium syndrome
Van der Woude syndrome		 Criteria Provided
Single Submitter
 CA344576207 rs_779827384

1 SubmittersRCV002232628
NM_006147.4(IRF6):c.950G>A (p.Cys317Tyr) SNV
Germline		 Chr1:209790605 Likely pathogenic Orofacial cleft 6, susceptibility to
Popliteal pterygium syndrome
Van der Woude syndrome		 Criteria Provided
Single Submitter
 rs_1571979607

1 SubmittersRCV000797352
NM_006147.4(IRF6):c.292G>C (p.Asp98His) SNV
Germline		 Chr1:209796435 Likely pathogenic Orofacial cleft 6, susceptibility to
Popliteal pterygium syndrome
Van der Woude syndrome		 Criteria Provided
Single Submitter
 rs_1571983348

1 SubmittersRCV002234983
NM_006147.4(IRF6):c.176C>T (p.Ala59Val) SNV
Germline		 Chr1:209796551 Likely pathogenic Van der Woude syndrome
Orofacial cleft 6, susceptibility to
Popliteal pterygium syndrome		 Criteria Provided
Single Submitter
 rs_1571983440

1 SubmittersRCV002235135
NM_006147.4(IRF6):c.1121G>A (p.Cys374Tyr) SNV
Germline		 Chr1:209789725 Likely pathogenic Van der Woude syndrome
Orofacial cleft 6, susceptibility to
Popliteal pterygium syndrome		 Criteria Provided
Single Submitter
 rs_2077857680

1 SubmittersRCV002240242
NM_006147.4(IRF6):c.989C>A (p.Ser330Ter) SNV
Germline		 Chr1:209790566 Pathogenic Van der Woude syndrome
Orofacial cleft 6, susceptibility to
Popliteal pterygium syndrome		 Criteria Provided
Single Submitter
 rs_2077863259

1 SubmittersRCV001047148
NM_006147.4(IRF6):c.180G>A (p.Trp60Ter) SNV
Germline		 Chr1:209796547 Pathogenic Van der Woude syndrome
Orofacial cleft 6, susceptibility to
Popliteal pterygium syndrome		 Criteria Provided
Single Submitter
 rs_2077902411

1 SubmittersRCV001045750
NM_006147.4(IRF6):c.179G>A (p.Trp60Ter) SNV
Germline		 Chr1:209796548 Pathogenic Orofacial cleft 6, susceptibility to
Popliteal pterygium syndrome
Van der Woude syndrome		 Criteria Provided
Single Submitter
 rs_2077902428

1 SubmittersRCV001056286
NM_006147.4(IRF6):c.888C>T (p.Asp296=) SNV
Germline		 Chr1:209790667 Conflicting classifications of pathogenicity Orofacial cleft 6, susceptibility to
Van der Woude syndrome 1
Popliteal pterygium syndrome
Orofacial cleft 6, susceptibility to
Van der Woude syndrome		 Criteria Provided
Conflicting Classifications
 rs_748882482

2 SubmittersRCV001095858RCV001097657RCV002557973
NM_006147.4(IRF6):c.622C>T (p.Gln208Ter) SNV
Germline		 Chr1:209792314 Pathogenic Orofacial cleft 6, susceptibility to
Popliteal pterygium syndrome
Van der Woude syndrome
Van der Woude syndrome		 Criteria Provided
Single Submitter
 rs_2077873846

2 SubmittersRCV001207819RCV003314675
NM_006147.4(IRF6):c.194G>A (p.Gly65Glu) SNV
Germline		 Chr1:209796533 Likely pathogenic Autosomal dominant popliteal pterygium syndrome
IRF6-related condition
Condition: not provided		 Criteria Provided
Single Submitter
 rs_2077902309

3 SubmittersRCV001254350RCV004554854RCV004727053
NM_006147.4(IRF6):c.1138C>T (p.Pro380Ser) SNV
Germline		 Chr1:209789708 Pathogenic Orofacial cleft 6, susceptibility to
Popliteal pterygium syndrome
Van der Woude syndrome		 Criteria Provided
Single Submitter
 rs_2077857559

1 SubmittersRCV002242060
NM_006147.4(IRF6):c.169T>C (p.Phe57Leu) SNV
Germline		 Chr1:209801245 Likely pathogenic Van der Woude syndrome
Popliteal pterygium syndrome
Orofacial cleft 6, susceptibility to		 Criteria Provided
Single Submitter
 rs_2077939791

1 SubmittersRCV001347857
NM_006147.4(IRF6):c.748C>T (p.Arg250Ter) SNV
Germline		 Chr1:209790807 Pathogenic Popliteal pterygium syndrome
Orofacial cleft 6, susceptibility to
Van der Woude syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2077864704

2 SubmittersRCV001387736RCV001538695
NM_006147.4(IRF6):c.558C>A (p.Cys186Ter) SNV
Germline		 Chr1:209792378 Pathogenic Popliteal pterygium syndrome
Orofacial cleft 6, susceptibility to
Van der Woude syndrome		 Criteria Provided
Single Submitter
 rs_2077874511

1 SubmittersRCV001385868
NM_006147.4(IRF6):c.961G>A (p.Val321Met) SNV
Germline		 Chr1:209790594 Conflicting classifications of pathogenicity Condition: not provided
Orofacial cleft 6, susceptibility to
Popliteal pterygium syndrome
Van der Woude syndrome		 Criteria Provided
Conflicting Classifications
 rs_2102536882

2 SubmittersRCV001776617RCV003772114
NM_006147.4(IRF6):c.478C>T (p.Gln160Ter) SNV
Germline		 Chr1:209795320 Pathogenic Popliteal pterygium syndrome
Orofacial cleft 6, susceptibility to
Van der Woude syndrome		 Criteria Provided
Single Submitter
 rs_1322638469

1 SubmittersRCV001982809
NM_006147.4(IRF6):c.1045G>T (p.Glu349Ter) SNV
Germline		 Chr1:209790510 Pathogenic Orofacial cleft 6, susceptibility to
Popliteal pterygium syndrome
Van der Woude syndrome		 Criteria Provided
Single Submitter
 rs_2102536764

1 SubmittersRCV001926466
NM_006147.4(IRF6):c.269G>C (p.Ser90Thr) SNV
Germline		 Chr1:209796458 Likely pathogenic Popliteal pterygium syndrome
Van der Woude syndrome
Orofacial cleft 6, susceptibility to		 Criteria Provided
Single Submitter
 rs_2102542857

1 SubmittersRCV002009297
NM_006147.4(IRF6):c.575G>A (p.Trp192Ter) SNV
Germline		 Chr1:209792361 Pathogenic Popliteal pterygium syndrome
Van der Woude syndrome
Orofacial cleft 6, susceptibility to		 Criteria Provided
Single Submitter
 rs_1399955256

1 SubmittersRCV001946793
NM_006147.4(IRF6):c.263A>G (p.Asn88Ser) SNV
Germline		 Chr1:209796464 Pathogenic Popliteal pterygium syndrome
Orofacial cleft 6, susceptibility to
Van der Woude syndrome		 Criteria Provided
Single Submitter
 rs_2102542868

1 SubmittersRCV001967650
NM_006147.4(IRF6):c.1052T>C (p.Phe351Ser) SNV
Germline		 Chr1:209790503 Pathogenic Orofacial cleft 6, susceptibility to
Popliteal pterygium syndrome
Van der Woude syndrome		 Criteria Provided
Single Submitter
 rs_1224922793

1 SubmittersRCV001942280
NM_006147.4(IRF6):c.274G>A (p.Glu92Lys) SNV
Germline		 Chr1:209796453 Pathogenic Orofacial cleft 6, susceptibility to
Van der Woude syndrome
Popliteal pterygium syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV002664204
NM_006147.4(IRF6):c.235T>C (p.Trp79Arg) SNV
Germline		 Chr1:209796492 Pathogenic Orofacial cleft 6, susceptibility to
Van der Woude syndrome
Popliteal pterygium syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV002651400
NM_006147.4(IRF6):c.2T>A (p.Met1Lys) SNV
Germline		 Chr1:209801412 Pathogenic Van der Woude syndrome
Popliteal pterygium syndrome
Orofacial cleft 6, susceptibility to		 Criteria Provided
Single Submitter

1 SubmittersRCV002858441
NM_006147.4(IRF6):c.1061-1G>T SNV
Germline		 Chr1:209789786 Pathogenic Popliteal pterygium syndrome
Van der Woude syndrome
Orofacial cleft 6, susceptibility to		 Criteria Provided
Single Submitter

1 SubmittersRCV003022497
NM_006147.4(IRF6):c.1259G>A (p.Arg420His) SNV
Germline		 Chr1:209788565 Conflicting classifications of pathogenicity Condition: not provided
Orofacial cleft 6, susceptibility to
Van der Woude syndrome
Popliteal pterygium syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003133721RCV003778715
NM_006147.4(IRF6):c.329T>C (p.Ile110Thr) SNV
Germline		 Chr1:209796398 Likely pathogenic Orofacial cleft 6, susceptibility to
Popliteal pterygium syndrome
Van der Woude syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV003780964
NM_006147.4(IRF6):c.259C>T (p.Leu87Phe) SNV
Germline		 Chr1:209796468 Pathogenic Orofacial cleft 6, susceptibility to
Popliteal pterygium syndrome
Van der Woude syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV003780966
NM_006147.4(IRF6):c.175G>T (p.Ala59Ser) SNV
Germline		 Chr1:209796552 Likely pathogenic Orofacial cleft 6, susceptibility to
Popliteal pterygium syndrome
Van der Woude syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV003780967
NM_006147.4(IRF6):c.928G>C (p.Ala310Pro) SNV
Germline		 Chr1:209790627 Likely pathogenic Orofacial cleft 6, susceptibility to
Van der Woude syndrome
Popliteal pterygium syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV003804469
NM_006147.4(IRF6):c.430G>T (p.Glu144Ter) SNV
Germline		 Chr1:209795368 Pathogenic Orofacial cleft 6, susceptibility to
Van der Woude syndrome
Popliteal pterygium syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV003809140
NM_006147.4(IRF6):c.760G>A (p.Gly254Arg) SNV
Germline		 Chr1:209790795 Likely pathogenic Popliteal pterygium syndrome
Orofacial cleft 6, susceptibility to
Van der Woude syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV003812397
NM_006147.4(IRF6):c.827T>C (p.Phe276Ser) SNV
Germline		 Chr1:209790728 Likely pathogenic Van der Woude syndrome 1
Orofacial cleft 6, susceptibility to
Autosomal dominant popliteal pterygium syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV004796530