Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000492.3:c.416A>T | 3 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 219700.G.1.1 | Bahrain | Failure to thrive; Exocrine pancreatic insufficiency; Recurrent lower respiratory tract infections | Unknown | 2 compound heterozygous patients from a family | ||
| 219700.G.1.3 | Bahrain | Failure to thrive; Exocrine pancreatic insufficiency; Recurrent lower respiratory tract infections; Meconium ileus | Unknown | 3 patients from a family of Persian origin | ||
| 219700.G.1.4 | Bahrain | Failure to thrive; Exocrine pancreatic insufficiency; Recurrent lower respiratory tract infections; Meconium ileus; Cholestasis | Unknown | 5 patients from 4 families; 2 of these patients are from a family of Syrian origin |