Total 28 pathogenic variants reported for Van der Woude syndrome 1 
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
Van der Woude syndrome
Popliteal pterygium syndrome		 Criteria Provided
Single Submitter
 CA252750 rs_121434224

3 SubmittersRCV000003580RCV003764523
NM_006147.4(IRF6):c.251G>A (p.Arg84His) SNV
Germline		 Chr1:209796476 Pathogenic Popliteal pterygium syndrome
Condition: not provided
Popliteal pterygium syndrome
Van der Woude syndrome
Orofacial cleft 6, susceptibility to
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.5C>T (p.Ala2Val) SNV
Germline		 Chr1:209801409 Pathogenic Van der Woude syndrome 1 No Assertion Criteria Provided
 CA252758 rs_28942093

1 SubmittersRCV000003585
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
Van der Woude syndrome 1
Orofacial cleft 6, susceptibility to
Popliteal pterygium syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA252759 rs_28942094

4 SubmittersRCV000003586RCV000414901RCV000413551RCV000762880
NM_006147.4(IRF6):c.1137G>A (p.Trp379Ter) SNV
Germline		 Chr1:209789709 Pathogenic Van der Woude syndrome 1 No Assertion Criteria Provided
 CA252760 rs_121434228

1 SubmittersRCV000003587
NM_006147.4(IRF6):c.1198C>T (p.Arg400Trp) SNV
Germline		 Chr1:209788626 Pathogenic Van der Woude syndrome 1
Orofacial cleft 6, susceptibility to
Van der Woude syndrome
Popliteal pterygium 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
Van der Woude syndrome
Orofacial cleft 6, susceptibility to
Van der Woude syndrome
Popliteal pterygium syndrome		 Criteria Provided
Conflicting Classifications
 CA252764 rs_121434229

4 SubmittersRCV000003590RCV002253193RCV003314548RCV003764524
NM_006147.4(IRF6):c.1186C>T (p.Pro396Ser) SNV
Germline		 Chr1:209788638 Pathogenic Van der Woude syndrome 1 No Assertion Criteria Provided
 CA252765 rs_121434230

1 SubmittersRCV000003591
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.145C>T (p.Gln49Ter) SNV
Germline		 Chr1:209801269 Pathogenic Van der Woude syndrome 1
Van der Woude syndrome
Popliteal pterygium syndrome
Orofacial cleft 6, susceptibility to		 Criteria Provided
Single Submitter
 CA261244 rs_397515434

2 SubmittersRCV000033164RCV001037238
NM_006147.4(IRF6):c.1199G>A (p.Arg400Gln) SNV
Germline		 Chr1:209788625 Pathogenic Van der Woude syndrome 1 No Assertion Criteria Provided
 CA267607 rs_200166664

1 SubmittersRCV000087748
NM_006147.4(IRF6):c.1210G>A (p.Glu404Lys) SNV
Germline		 Chr1:209788614 Pathogenic/Likely pathogenic Van der Woude syndrome 1
Condition: not provided
Popliteal pterygium syndrome
Orofacial cleft 6, susceptibility to
Van der Woude syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA277849 rs_769068305

3 SubmittersRCV000201948RCV000430826RCV002229128
NM_006147.4(IRF6):c.113T>C (p.Ile38Thr) SNV
Germline		 Chr1:209801301 Pathogenic Van der Woude syndrome 1 Criteria Provided
Single Submitter
 CA16609477 rs_1060499555

1 SubmittersRCV000449637
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
Van der Woude syndrome
Popliteal pterygium syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA344586104 rs_1553248641

3 SubmittersRCV000521480RCV000590928RCV002231203
NM_006147.4(IRF6):c.1234C>T (p.Arg412Ter) SNV
Germline		 Chr1:209788590 Pathogenic Van der Woude syndrome 1
Popliteal pterygium syndrome
Van der Woude syndrome
Orofacial cleft 6, susceptibility to
Condition: not provided
Van der Woude syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA344573331 rs_1553247595

4 SubmittersRCV000556227RCV000684776RCV001584247RCV003314608
NM_198173.3(GRHL3):c.1225C>T (p.Arg409Cys) SNV
Germline		 Chr1:24342712 Conflicting classifications of pathogenicity Van der Woude syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA690131 rs_770938921

2 SubmittersRCV000590896RCV002469214
NM_006147.4(IRF6):c.659C>T (p.Ser220Phe) SNV
Unknown		 Chr1:209792277 Likely pathogenic Van der Woude syndrome 1 Criteria Provided
Single Submitter
 rs_1553247877

1 SubmittersRCV000677639
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
Orofacial cleft 6, susceptibility to
Van der Woude syndrome
Popliteal pterygium syndrome		 Criteria Provided
Conflicting Classifications
 rs_748882482

2 SubmittersRCV001095858RCV001097657RCV002557973
NM_006147.4(IRF6):c.158A>G (p.Glu53Gly) SNV
Germline		 Chr1:209801256 Likely pathogenic Van der Woude syndrome 1 No Assertion Criteria Provided
 rs_2077939867

1 SubmittersRCV001261360
NM_006147.4(IRF6):c.696C>A (p.Tyr232Ter) SNV
Germline		 Chr1:209790859 Likely pathogenic Van der Woude syndrome 1 Criteria Provided
Single Submitter
 rs_2102537180

1 SubmittersRCV002272756
NM_006147.4(IRF6):c.298A>G (p.Thr100Ala) SNV
Unknown		 Chr1:209796429 Pathogenic Van der Woude syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV003485014