NM_022489.4(INF2):c.271C>G (p.Arg91Gly)Pathogenic
Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E|Inborn genetic diseases
β
β
ββ2025β Residue 91
NM_022489.4(INF2):c.640C>T (p.Arg214Cys)Pathogenic
Focal segmental glomerulosclerosis 5|Charcot-Marie-Tooth disease|Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E|Charcot-Marie-Tooth disease dominant intermediate E|Inborn genetic diseases|not provided
β
β
ββ2025β Residue 214
NM_022489.4(INF2):c.218G>A (p.Gly73Asp)Pathogenic
Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E|Charcot-Marie-Tooth disease dominant intermediate E
β
β
ββ2025β Residue 73
NM_022489.4(INF2):c.658G>A (p.Glu220Lys)Pathogenic
Focal segmental glomerulosclerosis;Proteinuria;Renal insufficiency;Hypertensive disorder|Focal segmental glomerulosclerosis 5|not provided|Charcot-Marie-Tooth disease|Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E|Charcot-Marie-Tooth disease dominant intermediate E
β
β
ββ2025β Residue 220
NM_022489.4(INF2):c.529C>T (p.Arg177Cys)Pathogenic
Focal segmental glomerulosclerosis 5|INF2-related disorder|Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E
β
β
ββ2025β Residue 177
NM_022489.4(INF2):c.641G>A (p.Arg214His)Pathogenic
Focal segmental glomerulosclerosis 5|Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E|Kidney disorder|not provided
β
β
ββ2025β Residue 214
NM_022489.4(INF2):c.652C>T (p.Arg218Trp)Pathogenic
Focal segmental glomerulosclerosis 5|Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E|Charcot-Marie-Tooth disease dominant intermediate E
β
β
ββ2025β Residue 218
NM_022489.4(INF2):c.653G>A (p.Arg218Gln)Pathogenic
Focal segmental glomerulosclerosis 5|not provided|Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E|Kidney disorder|Inborn genetic diseases|Charcot-Marie-Tooth disease dominant intermediate E
β
β
ββ2025β Residue 218
NM_022489.4(INF2):c.383T>C (p.Leu128Pro)Pathogenic
Charcot-Marie-Tooth disease dominant intermediate E|not provided|Charcot-Marie-Tooth disease dominant intermediate E;Focal segmental glomerulosclerosis 5|Inborn genetic diseases
β
β
ββ2024β Residue 128
NM_022489.4(INF2):c.218G>T (p.Gly73Val)Pathogenic
Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E|not provided
β
β
ββ2024β Residue 73
NM_022489.4(INF2):c.550G>A (p.Glu184Lys)Pathogenic
Focal segmental glomerulosclerosis 5|Charcot-Marie-Tooth disease|Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E
β
β
ββ2024β Residue 184
NM_022489.4(INF2):c.217G>A (p.Gly73Ser)Pathogenic
Focal segmental glomerulosclerosis 5|not provided|Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E
β
β
ββ2024β Residue 73
NM_022489.4(INF2):c.395T>C (p.Leu132Pro)Pathogenic
Charcot-Marie-Tooth disease|Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E|not provided|Inborn genetic diseases
β
β
ββ2023β Residue 132
NM_022489.4(INF2):c.341G>A (p.Gly114Asp)Pathogenic
Charcot-Marie-Tooth disease|Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E
β
βββ2026β Residue 114
NM_022489.4(INF2):c.604A>C (p.Asn202His)Likely pathogenic
Focal segmental glomerulosclerosis 5
β
βββ2025β Residue 202
NM_022489.4(INF2):c.529C>G (p.Arg177Gly)Likely pathogenic
Focal segmental glomerulosclerosis 5
β
βββ2025β Residue 177
NM_022489.4(INF2):c.323T>A (p.Val108Asp)Pathogenic
Charcot-Marie-Tooth disease|Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E
β
βββ2025β Residue 108
NM_022489.4(INF2):c.373_387dup (p.Ser129_Gln130insValArgGlnLeuSer)Likely pathogenic
not provided
β
βββ2025β Residue 129
NM_022489.4(INF2):c.481A>C (p.Thr161Pro)Likely pathogenic
Focal segmental glomerulosclerosis 5
β
βββ2025β Residue 161
NM_022489.4(INF2):c.206T>C (p.Leu69Pro)Likely pathogenic
Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease dominant intermediate E
β
βββ2025β Residue 69