Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000492.3:c.1911del | 10 | 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.1.2 | Bahrain | Failure to thrive; Exocrine pancreatic insufficiency; Recurrent lower respiratory tract infections; Meconium ileus; Cholestasis | Unknown | 3 compound heterozygous patients from 3 different families (2nd mutation unknown in all 3) | ||
| 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 |