Total 13 pathogenic variants reported for Van der Woude syndrome 2

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_198173.3(GRHL3):c.893G>A (p.Arg298His)	SNV Germline	Chr1:24338044	Pathogenic	Van der Woude syndrome 2	No Assertion Criteria Provided	CA690028	rs_752673677	1 SubmittersRCV000087751
NM_198173.3(GRHL3):c.1419+1G>T	SNV Germline	Chr1:24343026	Pathogenic	Van der Woude syndrome 2	No Assertion Criteria Provided	CA10575632	rs_879255244	1 SubmittersRCV000087752
NM_198173.3(GRHL3):c.1171C>T (p.Arg391Cys)	SNV Germline	Chr1:24342238	Likely pathogenic	Van der Woude syndrome 2	Criteria Provided Single Submitter	CA10575633	rs_879255245	2 SubmittersRCV000087753
NM_198173.3(GRHL3):c.899G>A (p.Trp300Ter)	SNV Germline	Chr1:24338050	Pathogenic	Van der Woude syndrome 2	Criteria Provided Single Submitter	CA339045920	rs_1553172687	1 SubmittersRCV000548428
NM_198173.3(GRHL3):c.1159C>T (p.Arg387Cys)	SNV Germline	Chr1:24342226	Conflicting classifications of pathogenicity	Van der Woude syndrome 2 GRHL3-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_147284380	3 SubmittersRCV000972975 RCV003918517 RCV002548368
NM_198173.3(GRHL3):c.205-3C>A	SNV Germline	Chr1:24334642	Conflicting classifications of pathogenicity	Van der Woude syndrome 2	Criteria Provided Conflicting Classifications		rs_200425622	2 SubmittersRCV001199142
NM_198173.3(GRHL3):c.1419+1G>A	SNV Germline	Chr1:24343026	Pathogenic	Van der Woude syndrome 2	Criteria Provided Single Submitter		rs_879255244	1 SubmittersRCV001380488
NM_198173.3(GRHL3):c.1469G>A (p.Arg490His)	SNV Germline	Chr1:24346567	Conflicting classifications of pathogenicity	Van der Woude syndrome 2 Inborn genetic diseases GRHL3-related disorder	Criteria Provided Conflicting Classifications		rs_138381915	3 SubmittersRCV001514417 RCV002564325 RCV003940918
NM_198173.3(GRHL3):c.204+2T>C	SNV Germline	Chr1:24331614	Likely pathogenic	Van der Woude syndrome 2	Criteria Provided Single Submitter			1 SubmittersRCV002837651