Total 10 pathogenic variants reported for Congenital diaphragmatic hernia

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_005257.6(GATA6):c.1366C>T (p.Arg456Cys)	SNV Germline	Chr18:22181516	Pathogenic	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome Abnormal cardiovascular system morphology Congenital diaphragmatic hernia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA129029	rs_387906818	6 SubmittersRCV000023135 RCV000191918 RCV003236769
NM_000245.4(MET):c.2975C>T (p.Thr992Ile)	SNV Germline/somatic	Chr7:116771936	Conflicting classifications of pathogenicity	Condition: not provided not specified Papillary renal cell carcinoma type 1 Congenital diaphragmatic hernia Hereditary cancer-predisposing syndrome Carcinoma Neoplasm Renal cell carcinoma Classic Hodgkin lymphoma MET-related disorder	Criteria Provided Conflicting Classifications	CA160417	rs_56391007	27 SubmittersRCV000034529 RCV000121340 RCV000123120 RCV000203290 RCV000163261 RCV000421063 RCV000431770 RCV001507182 RCV002227927 RCV003891465
NM_005257.6(GATA6):c.712G>T (p.Gly238Ter)	SNV Germline/somatic	Chr18:22171856	Pathogenic	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome Congenital diaphragmatic hernia Abnormal cardiovascular system morphology	Criteria Provided Single Submitter	CA170737	rs_587777710	2 SubmittersRCV000144067 RCV000191916
NM_181458.4(PAX3):c.944C>A (p.Thr315Lys)	SNV Germline	Chr2:222221236	Conflicting classifications of pathogenicity	Congenital diaphragmatic hernia not specified Waardenburg syndrome Craniofacial-deafness-hand syndrome Waardenburg syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA339658	rs_2234675	8 SubmittersRCV000203286 RCV000213796 RCV000293967 RCV000348942 RCV000626405 RCV000992502
NM_001379081.2(FREM1):c.1394G>C (p.Gly465Ala)	SNV Germline	Chr9:14842660	Conflicting classifications of pathogenicity	Congenital diaphragmatic hernia Oculotrichoanal syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA339661	rs_41298151	5 SubmittersRCV000203291 RCV000289080 RCV000249912 RCV002057046
NM_005032.7(PLS3):c.617C>T (p.Ala206Val)	SNV Germline	ChrX:115634915	Likely pathogenic	Congenital diaphragmatic hernia Hernia, anterior diaphragmatic	Criteria Provided Single Submitter		rs_2147551760	2 SubmittersRCV001827472 RCV003985024