Total 15 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
Inborn genetic diseases
Atrioventricular septal defect 5		 Criteria Provided
Multiple Submitters
No Conflicts
 CA129029 rs_387906818

8 SubmittersRCV000023135RCV000191918RCV003236769RCV004975265RCV005603589
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
Osteofibrous dysplasia
Hepatocellular carcinoma
Arthrogryposis, distal, IIa 11
Autosomal recessive nonsyndromic hearing loss 97
Papillary renal cell carcinoma type 1		 Criteria Provided
Conflicting Classifications
 CA160417 rs_56391007

29 SubmittersRCV000034529RCV000121340RCV000123120RCV000163261RCV000203290RCV001507182RCV002227927RCV003891465RCV005394193
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
Dilated cardiomyopathy 1I
Neurogenic scapuloperoneal syndrome, Kaeser type
Cardiomyopathy
Desmin-related myofibrillar myopathy
Neurogenic scapuloperoneal syndrome, Kaeser type
Desmin-related myofibrillar myopathy
Dilated cardiomyopathy 1I		 Criteria Provided
Conflicting Classifications
 CA133860 rs_41272699

25 SubmittersRCV000037245RCV000056805RCV000203295RCV000239721RCV000250294RCV000313133RCV000367823RCV001171067RCV001083932RCV005400420
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 SubmittersRCV000144067RCV000191916
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

9 SubmittersRCV000203286RCV000213796RCV000293967RCV000348942RCV000626405RCV000992502
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
Lung cancer
Familial pancreatic carcinoma
Gastric cancer
Uterine corpus endometrial carcinoma
Acute myeloid leukemia
Ovarian serous cystadenocarcinoma
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Conflicting Classifications
 CA339661 rs_41298151

7 SubmittersRCV000203291RCV000249912RCV000289080RCV002057046RCV005893692RCV005893688RCV005893689RCV005893693RCV005893687RCV005893690RCV005893691
NM_001127392.3(MYRF):c.1303G>A (p.Gly435Arg) SNV
Germline		 Chr11:61774154 Pathogenic/Likely pathogenic Cardiac-urogenital syndrome
Abnormal heart morphology
Urogenital tract malformation
Congenital diaphragmatic hernia		 No Assertion Criteria Provided
 CA380852512 rs_1565295550

2 SubmittersRCV000758213RCV001291520
NM_001127392.3(MYRF):c.1209G>C (p.Gln403His) SNV
Germline		 Chr11:61774060 Likely pathogenic Urogenital tract malformation
Abnormal heart morphology
Congenital diaphragmatic hernia		 No Assertion Criteria Provided
 CA380852035 rs_1027079885

1 SubmittersRCV001291140
NM_001127392.3(MYRF):c.1904-1G>A SNV
Germline		 Chr11:61778379 Likely pathogenic Urogenital tract malformation
Abnormal heart morphology
Congenital diaphragmatic hernia		 No Assertion Criteria Provided
 CA380856941 rs_2066445430

1 SubmittersRCV001291137
NM_001127392.3(MYRF):c.2036T>C (p.Val679Ala) SNV
Germline		 Chr11:61779285 Conflicting classifications of pathogenicity Urogenital tract malformation
Abnormal heart morphology
Congenital diaphragmatic hernia
MYRF-related disorder
Nanophthalmos 1
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization
Cardiac-urogenital syndrome		 Criteria Provided
Conflicting Classifications
 CA380858293 rs_2066476390

3 SubmittersRCV001291135RCV004528450RCV006257333
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 SubmittersRCV001827472RCV003985024