Total 11 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 Congenital diaphragmatic hernia Abnormal cardiovascular system morphology Condition: not provided Inborn genetic diseases Atrioventricular septal defect 5	Criteria Provided Multiple Submitters No Conflicts	CA129029	rs_387906818	8 SubmittersRCV000023135 RCV000191918 RCV003236769 RCV004975265 RCV005603589
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 Hereditary cancer-predisposing syndrome Congenital diaphragmatic hernia Renal cell carcinoma Classic Hodgkin lymphoma MET-related disorder Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia Arthrogryposis, distal, IIa 11 Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA160417	rs_56391007	28 SubmittersRCV000034529 RCV000121340 RCV000123120 RCV000163261 RCV000203290 RCV001507182 RCV002227927 RCV003891465 RCV005394193
NM_001927.4(DES):c.638C>T (p.Ala213Val)	SNV Germline	Chr2:219420154	Conflicting classifications of pathogenicity	not specified Condition: not provided Congenital diaphragmatic hernia Myofibrillar myopathy Cardiovascular phenotype Myofibrillar Myopathy, Dominant Dilated cardiomyopathy 1I Neurogenic scapuloperoneal syndrome, Kaeser type Desmin-related myofibrillar myopathy Cardiomyopathy Neurogenic scapuloperoneal syndrome, Kaeser type Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I	Criteria Provided Conflicting Classifications	CA133860	rs_41272699	24 SubmittersRCV000037245 RCV000056805 RCV000203295 RCV000239721 RCV000250294 RCV000263666 RCV000313133 RCV000367823 RCV001083932 RCV001171067 RCV005400420
NM_005257.6(GATA6):c.712G>T (p.Gly238Ter)	SNV Germline/somatic	Chr18:22171856	Pathogenic	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome Abnormal cardiovascular system morphology Congenital diaphragmatic hernia	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 Condition: not provided Waardenburg syndrome type 1	Criteria Provided Conflicting Classifications	CA339658	rs_2234675	8 SubmittersRCV000203286 RCV000213796 RCV000293967 RCV000348942 RCV000992502 RCV000626405
NM_001379081.2(FREM1):c.1394G>C (p.Gly465Ala)	SNV Germline	Chr9:14842660	Conflicting classifications of pathogenicity	Congenital diaphragmatic hernia not specified Oculotrichoanal syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA339661	rs_41298151	5 SubmittersRCV000203291 RCV000249912 RCV000289080 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	CA414333942	rs_2147551760	2 SubmittersRCV001827472 RCV003985024