NM_198334.3(GANAB):c.2443C>T (p.Arg815Ter)Pathogenic
Autosomal dominant polycystic liver disease|not provided|Biliary tract abnormality|Polycystic kidney disease 3 with or without polycystic liver disease
β
β
ββ2026β Residue 815
NM_198334.3(GANAB):c.842dup (p.Asn281fs)Likely pathogenic
Polycystic kidney disease 3 with or without polycystic liver disease
β
β
ββ2025β Residue 281
NM_198334.3(GANAB):c.199_200del (p.Leu67fs)Pathogenic
Polycystic kidney disease 3 with or without polycystic liver disease|GANAB-related disorder|not provided
β
β
ββ2025β Residue 67
NM_198334.3(GANAB):c.516_517delinsAT (p.Arg173Ter)Pathogenic
Polycystic kidney disease 3 with or without polycystic liver disease|not provided
β
β
ββ2025β Residue 173
NM_198334.3(GANAB):c.2434C>T (p.Arg812Ter)Pathogenic
Polycystic kidney disease 3 with or without polycystic liver disease|not provided
β
β
ββ2024β Residue 812
NM_198334.3(GANAB):c.490C>T (p.Arg164Ter)Pathogenic
not provided|Polycystic kidney disease 3 with or without polycystic liver disease
β
β
ββ2024β Residue 164
NM_198334.3(GANAB):c.181C>T (p.Arg61Ter)Pathogenic
not provided
β
β
ββ2024β Residue 61
NM_198334.3(GANAB):c.2449C>T (p.Arg817Trp)Likely pathogenic
POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE|Polycystic kidney disease 3 with or without polycystic liver disease|not provided
β
β
ββ2024β Residue 817
NM_198334.3(GANAB):c.1848_1849del (p.Asp618fs)Pathogenic
Polycystic kidney disease 3 with or without polycystic liver disease|not provided
β
β
ββ2024β Residue 618
NM_198334.3(GANAB):c.152_153del (p.Arg51fs)Pathogenic
POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE|Polycystic kidney disease 3 with or without polycystic liver disease|not provided|GANAB-related disorder
β
β
ββ2023β Residue 51
NM_198334.3(GANAB):c.149dup (p.Arg51fs)Likely pathogenic
Polycystic kidney disease 3 with or without polycystic liver disease
β
βββ2026β Residue 51
NM_198334.3(GANAB):c.630+1G>ALikely pathogenic
not provided
β
βββ2025
NM_198334.3(GANAB):c.2322+1G>ALikely pathogenic
Polycystic kidney disease 3 with or without polycystic liver disease
β
βββ2025
NM_198334.3(GANAB):c.1834G>A (p.Gly612Arg)Likely pathogenic
Polycystic kidney disease 3 with or without polycystic liver disease
β
βββ2025β Residue 612
NM_198334.3(GANAB):c.1240C>T (p.Gln414Ter)Likely pathogenic
Polycystic kidney disease 3 with or without polycystic liver disease
β
βββ2025β Residue 414
NM_198334.3(GANAB):c.2509C>T (p.Gln837Ter)Likely pathogenic
Polycystic kidney disease 3 with or without polycystic liver disease
β
βββ2025β Residue 837
NM_198334.3(GANAB):c.1786C>T (p.Arg596Cys)Likely pathogenic
Autosomal dominant polycystic liver disease|Polycystic kidney disease 3 with or without polycystic liver disease
β
βββ2024β Residue 596
NM_198334.3(GANAB):c.1387-1G>ALikely pathogenic
Polycystic kidney disease 3 with or without polycystic liver disease
β
βββ2024
NM_198334.3(GANAB):c.1495G>T (p.Glu499Ter)Pathogenic
Polycystic kidney disease 3 with or without polycystic liver disease
β
βββ2024β Residue 499
NM_198334.3(GANAB):c.1738-1G>ALikely pathogenic
Polycystic kidney disease 3 with or without polycystic liver disease
β
βββ2024