CRELD1 Chromosome 3
CRELD disulfide isomerase 1
Upload your DNA to see your personal genotypes for variants in CRELD1.
What This Gene Does
This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]
Associated Conditions (12)
Inborn genetic diseases
Atrioventricular septal defect
susceptibility to
2
CRELD1-related disorder
Jeffries-Lakhani neurodevelopmental syndrome
partial
with heterotaxy syndrome
Congenital heart defects
multiple types
4
Ventricular septal defect 1
Key Variants
RS1024452431
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138925944
Conflicting classifications of pathogenicity
Atrioventricular septal defect, susceptibility to, 2
Health Risk
RS1433259474
Conflicting classifications of pathogenicity
Atrioventricular septal defect, susceptibility to, 2
Health Risk
RS1559337563
Conflicting classifications of pathogenicity
Atrioventricular septal defect, susceptibility to, 2
Health Risk
RS201866563
Conflicting classifications of pathogenicity
Atrioventricular septal defect, susceptibility to, 2
Health Risk
RS2124858642
Conflicting classifications of pathogenicity
Inborn genetic diseases, Jeffries-Lakhani neurodevelopmental syndrome, Inborn genetic diseases
Health Risk
RS28941780
Conflicting classifications of pathogenicity
Atrioventricular septal defect, partial, with heterotaxy syndrome
Health Risk
RS751636782
Conflicting classifications of pathogenicity
Atrioventricular septal defect, susceptibility to, 2
Health Risk
RS759473511
Conflicting classifications of pathogenicity
CRELD1-related disorder, Atrioventricular septal defect, susceptibility to
Health Risk
RS773417792
Conflicting classifications of pathogenicity
Atrioventricular septal defect, susceptibility to, 2
Health Risk
RS1553600601
Likely pathogenic
Health Risk
RS1575650682
Likely pathogenic
Atrioventricular septal defect, susceptibility to, 2
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1024452431 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS138925944 | Health Risk | Conflicting classifications of pathogenicity | Atrioventricular septal defect, susceptibility to, 2 |
| RS1433259474 | Health Risk | Conflicting classifications of pathogenicity | Atrioventricular septal defect, susceptibility to, 2 |
| RS1559337563 | Health Risk | Conflicting classifications of pathogenicity | Atrioventricular septal defect, susceptibility to, 2 |
| RS201866563 | Health Risk | Conflicting classifications of pathogenicity | Atrioventricular septal defect, susceptibility to, 2 |
| RS2124858642 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Jeffries-Lakhani neurodevelopmental syndrome, Inborn genetic diseases |
| RS28941780 | Health Risk | Conflicting classifications of pathogenicity | Atrioventricular septal defect, partial, with heterotaxy syndrome |
| RS751636782 | Health Risk | Conflicting classifications of pathogenicity | Atrioventricular septal defect, susceptibility to, 2 |
| RS759473511 | Health Risk | Conflicting classifications of pathogenicity | CRELD1-related disorder, Atrioventricular septal defect, susceptibility to |
| RS773417792 | Health Risk | Conflicting classifications of pathogenicity | Atrioventricular septal defect, susceptibility to, 2 |
| RS1553600601 | Health Risk | Likely pathogenic | — |
| RS1575650682 | Health Risk | Likely pathogenic | Atrioventricular septal defect, susceptibility to, 2 |
| RS1188358849 | Health Risk | Pathogenic | Atrioventricular septal defect, susceptibility to, 2 |
| RS1575631130 | Health Risk | Pathogenic | — |
| RS2470480014 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 4 |
| RS2470508449 | Health Risk | Pathogenic | Ventricular septal defect 1, Ventricular septal defect 1 |
| RS746951044 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 4 |
| RS760263168 | Health Risk | Pathogenic | Ventricular septal defect 1, Ventricular septal defect 1 |
| RS774018674 | Health Risk | Pathogenic | Atrioventricular septal defect, susceptibility to, 2 |
| RS121912626 | Health Risk | risk factor | Atrioventricular septal defect, susceptibility to, 2 |
| RS121912627 | Health Risk | risk factor | Atrioventricular septal defect, susceptibility to, 2 |