NM_004366.6(CLCN2):c.1828C>T (p.Arg610Ter)Pathogenic
not provided|Leukoencephalopathy with mild cerebellar ataxia and white matter edema|Epilepsy, idiopathic generalized, susceptibility to, 11;Familial hyperaldosteronism type II;Leukoencephalopathy with mild cerebellar ataxia and white matter edema|CLCN2-related disorder
β
β
ββ2025β Residue 610
NM_004366.6(CLCN2):c.515G>A (p.Arg172Gln)Pathogenic
Familial hyperaldosteronism type II|Epilepsy, idiopathic generalized, susceptibility to, 11;Leukoencephalopathy with mild cerebellar ataxia and white matter edema;Familial hyperaldosteronism type II|not provided
β
β
ββ2025β Residue 172
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter)Pathogenic
Leukoencephalopathy with mild cerebellar ataxia and white matter edema|not provided|Epilepsy, idiopathic generalized, susceptibility to, 11;Leukoencephalopathy with mild cerebellar ataxia and white matter edema;Familial hyperaldosteronism type II|Epilepsy, idiopathic generalized, susceptibility to, 11|CLCN2-related disorder
β
β
ββ2025β Residue 570
NM_004366.6(CLCN2):c.668_672del (p.Leu223fs)Pathogenic
Leukoencephalopathy with mild cerebellar ataxia and white matter edema|not provided|Epilepsy, idiopathic generalized, susceptibility to, 11;Familial hyperaldosteronism type II;Leukoencephalopathy with mild cerebellar ataxia and white matter edema|CLCN2-related disorder
β
β
ββ2025β Residue 223
NM_004366.6(CLCN2):c.1412G>A (p.Arg471His)Likely pathogenic
Leukoencephalopathy with mild cerebellar ataxia and white matter edema|not provided|Familial hyperaldosteronism type II|CLCN2-related disorder
β
β
ββ2024β Residue 471
NM_004366.6(CLCN2):c.898+1G>ALikely pathogenic
not provided|Familial hyperaldosteronism type II;Epilepsy, idiopathic generalized, susceptibility to, 11;Leukoencephalopathy with mild cerebellar ataxia and white matter edema|Uterine corpus endometrial carcinoma
β
β
ββ2024
NM_004366.6(CLCN2):c.1143del (p.Gly382fs)Pathogenic
Leukoencephalopathy with mild cerebellar ataxia and white matter edema|not provided|Leukoencephalopathy with mild cerebellar ataxia and white matter edema;Epilepsy, idiopathic generalized, susceptibility to, 11;Familial hyperaldosteronism type II
β
β
ββ2023β Residue 382
NM_004366.6(CLCN2):c.1855G>T (p.Glu619Ter)Pathogenic
CLCN2-related disorder|not provided
β
β
ββ2022β Residue 619
NM_004366.6(CLCN2):c.71G>A (p.Gly24Asp)Pathogenic
not provided|Familial hyperaldosteronism type II
β
β
ββ2017β Residue 24
NM_004366.6(CLCN2):c.1541_1542del (p.Thr514fs)Pathogenic
not provided
β
βββ2025β Residue 514
NM_004366.6(CLCN2):c.1116_1123dup (p.Ser375fs)Pathogenic
not provided
β
βββ2025β Residue 375
NM_004366.6(CLCN2):c.2257C>T (p.Arg753Ter)Pathogenic
not provided
β
βββ2025β Residue 753
NM_004366.6(CLCN2):c.828dup (p.Arg277fs)Pathogenic
Leukoencephalopathy with mild cerebellar ataxia and white matter edema|not provided
β
βββ2024β Residue 277
NM_004366.6(CLCN2):c.194del (p.Gly65fs)Likely pathogenic
Epilepsy, idiopathic generalized, susceptibility to, 11;Leukoencephalopathy with mild cerebellar ataxia and white matter edema;Familial hyperaldosteronism type II
β
βββ2024β Residue 65
NM_004366.6(CLCN2):c.2408T>A (p.Leu803Ter)Pathogenic
not provided
β
βββ2024β Residue 803
NM_004366.6(CLCN2):c.221-2A>GLikely pathogenic
Epilepsy, idiopathic generalized, susceptibility to, 11;Leukoencephalopathy with mild cerebellar ataxia and white matter edema;Familial hyperaldosteronism type II
β
βββ2024
NM_004366.6(CLCN2):c.64-1G>ALikely pathogenic
Epilepsy, idiopathic generalized, susceptibility to, 11;Leukoencephalopathy with mild cerebellar ataxia and white matter edema;Familial hyperaldosteronism type II
β
βββ2024
NM_004366.6(CLCN2):c.1086-2A>GLikely pathogenic
not provided
β
βββ2024
NM_004366.6(CLCN2):c.1069del (p.Arg357fs)Likely pathogenic
Epilepsy, idiopathic generalized, susceptibility to, 11;Leukoencephalopathy with mild cerebellar ataxia and white matter edema;Familial hyperaldosteronism type II
β
βββ2024β Residue 357
NM_004366.6(CLCN2):c.925C>T (p.Arg309Ter)Likely pathogenic
Leukoencephalopathy with mild cerebellar ataxia and white matter edema|Epilepsy, idiopathic generalized, susceptibility to, 11;Leukoencephalopathy with mild cerebellar ataxia and white matter edema;Familial hyperaldosteronism type II
β
βββ2024β Residue 309