Table 2 Genotype and phenotype of HNF1B-MODY patients
Patient | HNF1B variant | Type | ACMG classification | Novel/Known | Phenotype |
|---|---|---|---|---|---|
1 | c.827G > A p.(Arg276Gln) | Missense | Pathogenic | Known | Diabetes, CKD (kidney txa), cholestatic liver disease |
2 | c.827G > A p.(Arg276Gln) | Missense | Pathogenic | Known | Diabetes, CKD (kidney and liver tx), cholestatic liver disease |
3 | c.1-?_1674 + ?del | Deletion | Pathogenic | Known | Diabetes, CKD, cholestatic liver disease |
4 | c.1-?_1674 + ?del | Deletion | Pathogenic | Known | Diabetes |
5 | c.1147C > T (p.Gln383*) | Nonsense | Likely pathogenic | Novel | Diabetes, CKD (kidney tx), uterine malformation |
6 | c.988C > T p. (Leu330Phe) | Missense | Uncertain significance | Novel | Diabetes |
7 | c.494G > A (p.(Arg165His) | Missense | Likely pathogenic | Known | Diabetes, CKD |
8 | c.526C > T p.(Gln176*) | Nonsense | Pathogenic | Known | Diabetes, CKD (kidney and pancreas tx) |
9 | c.526C > T p.(Gln176*) | Nonsense | Pathogenic | Known | Diabetes, CKD, cholestatic liver disease |
10 | c.493C > T p.(Arg165Cys) | Missense | Pathogenic | Known | Diabetes, CKD (kidney and pancreas tx) |