NM_000789.4(ACE):c.1486C>T (p.Arg496Ter)Pathogenic
Renal tubular dysgenesis|not provided|Abnormality of prenatal development or birth
β
β
ββ2025β Residue 496
NM_000789.4(ACE):c.444_445insTTAGC (p.Arg149fs)Pathogenic
not provided|ACE-related disorder|Microvascular complications of diabetes, susceptibility to, 3;Hemorrhage, intracerebral, susceptibility to;Renal tubular dysgenesis of genetic origin
β
β
ββ2025β Residue 149
NM_000789.4(ACE):c.35TGC[1] (p.Leu13_Leu14del)Pathogenic
not provided|Hemorrhage, intracerebral, susceptibility to;Microvascular complications of diabetes, susceptibility to, 3;Renal tubular dysgenesis of genetic origin
β
β
ββ2025β Residue 13
NM_000789.4(ACE):c.1487G>A (p.Arg496Gln)Likely pathogenic
not provided
β
β
ββ2025β Residue 496
NM_000789.4(ACE):c.2371C>T (p.Arg791Ter)Pathogenic
Renal tubular dysgenesis|not provided|Microvascular complications of diabetes, susceptibility to, 3;Renal tubular dysgenesis of genetic origin;Hemorrhage, intracerebral, susceptibility to
β
β
ββ2025β Residue 791
NM_000789.4(ACE):c.21_30del (p.Arg8fs)Pathogenic
Renal tubular dysgenesis of genetic origin|Hemorrhage, intracerebral, susceptibility to;Microvascular complications of diabetes, susceptibility to, 3;Renal tubular dysgenesis of genetic origin
β
β
ββ2024β Residue 8
NM_000789.4(ACE):c.1709+5G>CPathogenic
Congenital anomaly of kidney and urinary tract|Renal tubular dysgenesis|not provided
β
β
ββ2024
NM_000789.4(ACE):c.1511del (p.Pro504fs)Likely pathogenic
ACE-related disorder|Microvascular complications of diabetes, susceptibility to, 3;Hemorrhage, intracerebral, susceptibility to;Renal tubular dysgenesis of genetic origin
β
β
ββ2024β Residue 504
NM_000789.4(ACE):c.3503+1G>CLikely pathogenic
Renal tubular dysgenesis|Hemorrhage, intracerebral, susceptibility to;Renal tubular dysgenesis of genetic origin;Microvascular complications of diabetes, susceptibility to, 3|Renal tubular dysgenesis of genetic origin
β
β
ββ2024
NM_000789.4(ACE):c.1473_1475delinsA (p.Asp491fs)Pathogenic
Hereditary angioedema with normal C1Inh|not provided|Renal tubular dysgenesis of genetic origin;Hemorrhage, intracerebral, susceptibility to;Microvascular complications of diabetes, susceptibility to, 3
β
β
ββ2024β Residue 491
NM_000789.4(ACE):c.1186C>T (p.Gln396Ter)Pathogenic
not provided|Renal tubular dysgenesis of genetic origin;Hemorrhage, intracerebral, susceptibility to;Microvascular complications of diabetes, susceptibility to, 3
β
β
ββ2024β Residue 396
NM_000789.4(ACE):c.1342+1G>TLikely pathogenic
Renal tubular dysgenesis of genetic origin|Hemorrhage, intracerebral, susceptibility to;Microvascular complications of diabetes, susceptibility to, 3;Renal tubular dysgenesis of genetic origin
β
β
ββ2024
NM_000789.4(ACE):c.945+2T>GLikely pathogenic
not provided|Renal tubular dysgenesis of genetic origin;Hemorrhage, intracerebral, susceptibility to;Microvascular complications of diabetes, susceptibility to, 3
β
β
ββ2024
NM_000789.4(ACE):c.232G>T (p.Glu78Ter)Pathogenic
not provided|Microvascular complications of diabetes, susceptibility to, 3;Hemorrhage, intracerebral, susceptibility to;Renal tubular dysgenesis of genetic origin
β
β
ββ2024β Residue 78
NM_000789.4(ACE):c.793C>T (p.Arg265Ter)Pathogenic
not provided|Hemorrhage, intracerebral, susceptibility to;Microvascular complications of diabetes, susceptibility to, 3;Renal tubular dysgenesis of genetic origin
β
β
ββ2024β Residue 265
NM_000789.4(ACE):c.798C>G (p.Tyr266Ter)Pathogenic
Renal tubular dysgenesis|Hemorrhage, intracerebral, susceptibility to;Renal tubular dysgenesis of genetic origin;Microvascular complications of diabetes, susceptibility to, 3|not provided
β
β
ββ2024β Residue 266
NM_000789.4(ACE):c.1522C>T (p.Arg508Ter)Pathogenic
not provided|Renal tubular dysgenesis|Renal tubular dysgenesis of genetic origin
β
β
ββ2023β Residue 508
NM_000789.4(ACE):c.2T>C (p.Met1Thr)Pathogenic
not provided|Renal tubular dysgenesis of genetic origin
β
β
ββ2021β Residue 1
NM_000789.4(ACE):c.12_31del (p.Ser5fs)Pathogenic
Renal tubular dysgenesis|not provided
β
β
ββ2018β Residue 5
NM_000789.4(ACE):c.51del (p.Leu18fs)Pathogenic
Inborn genetic diseases
β
βββ2025β Residue 18