NM_024426.6(WT1):c.1387C>T (p.Arg463Ter)Pathogenic
Wilms tumor 1|Frasier syndrome|not provided|Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome;Drash syndrome|Focal segmental glomerulosclerosis|6 conditions
β
β
ββ2026β Residue 463
NM_024426.6(WT1):c.1316G>A (p.Arg439His)Pathogenic
Drash syndrome|not provided|Frasier syndrome;Nephrotic syndrome, type 4;Wilms tumor 1;Drash syndrome|Nephrotic syndrome, type 4|Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome;Drash syndrome|Wilms tumor 1|8 conditions
β
β
ββ2025β Residue 439
NM_024426.6(WT1):c.1447+4C>TPathogenic
Nephrotic syndrome, type 4|Frasier syndrome|Familial idiopathic steroid-resistant nephrotic syndrome|not provided|Nephrotic range proteinuria|Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome;Drash syndrome|Wilms tumor 1|WT1-related disorder|6 conditions|Leber congenital amaurosis 10
β
β
ββ2025
NM_024426.6(WT1):c.1303C>T (p.Arg435Ter)Pathogenic
Drash syndrome|Wilms tumor 1|Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome;Drash syndrome|8 conditions|not provided|6 conditions|Inborn genetic diseases
β
β
ββ2025β Residue 435
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)Pathogenic
Drash syndrome|Nephrotic syndrome, type 4|Meacham syndrome|Frasier syndrome;Drash syndrome;Wilms tumor 1;11p partial monosomy syndrome|not provided|Steroid-resistant nephrotic syndrome;Nephrotic range proteinuria|Kidney disorder|6 conditions|WT1-related disorder|Inborn genetic diseases|Wilms tumor 1
β
β
ββ2025β Residue 467
NM_024426.6(WT1):c.1120C>T (p.Arg374Ter)Pathogenic
not provided|Wilms tumor 1|Frasier syndrome;Drash syndrome;Wilms tumor 1;11p partial monosomy syndrome|Drash syndrome|Inborn genetic diseases|WT1-related Wilms tumor|WT1-related disorder
β
β
ββ2025β Residue 374
NM_024426.6(WT1):c.1447+5G>APathogenic
Drash syndrome|Frasier syndrome|Familial idiopathic steroid-resistant nephrotic syndrome|Nephrotic syndrome, type 4|Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome;Drash syndrome|not provided|Wilms tumor 1|WT1-related disorder|6 conditions|Inborn genetic diseases
β
β
ββ2025
NM_024426.6(WT1):c.1338C>A (p.His446Gln)Pathogenic
Frasier syndrome;Drash syndrome|11p partial monosomy syndrome;Frasier syndrome;Drash syndrome;Wilms tumor 1|not provided
β
β
ββ2025β Residue 446
NM_024426.6(WT1):c.1499G>A (p.Arg500Gln)Pathogenic
Drash syndrome;Wilms tumor 1;11p partial monosomy syndrome;Frasier syndrome|Nephrotic syndrome, type 4|WT1-related disorder|Drash syndrome
β
β
ββ2025β Residue 500
NM_024426.6(WT1):c.634G>T (p.Glu212Ter)Pathogenic
Wilms tumor 1|not provided
β
β
ββ2025β Residue 212
NM_024426.6(WT1):c.1405G>A (p.Asp469Asn)Pathogenic
Drash syndrome|Nephrotic syndrome, type 4|not provided|Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome;Drash syndrome
β
β
ββ2025β Residue 469
NM_024426.6(WT1):c.1448-1G>ALikely pathogenic
Frasier syndrome|Wilms tumor 1;11p partial monosomy syndrome;Frasier syndrome;Drash syndrome
β
β
ββ2025
NM_024426.6(WT1):c.1498C>T (p.Arg500Trp)Likely pathogenic
WT1-related disorder|6 conditions|Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome;Drash syndrome
β
β
ββ2024β Residue 500
NM_024426.6(WT1):c.658C>T (p.Gln220Ter)Pathogenic
not provided|Wilms tumor 1
β
β
ββ2024β Residue 220
NM_024426.6(WT1):c.1354+2T>CPathogenic
WT1-related disorder|6 conditions
β
β
ββ2024
NM_024426.6(WT1):c.410del (p.Pro137fs)Pathogenic
Wilms tumor 1|Drash syndrome;Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome
β
β
ββ2024β Residue 137
NM_024426.6(WT1):c.1315C>T (p.Arg439Cys)Pathogenic
Meacham syndrome|not provided|Nephrotic syndrome, type 4|Frasier syndrome;Wilms tumor 1;11p partial monosomy syndrome;Drash syndrome
β
β
ββ2024β Residue 439
NM_024426.6(WT1):c.1400G>A (p.Arg467Gln)Pathogenic
not provided|Kidney disorder|8 conditions|Wilms tumor 1|Drash syndrome|WT1-related Wilms tumor|Frasier syndrome;Drash syndrome;Wilms tumor 1;11p partial monosomy syndrome|WT1-related disorder|Nephrotic syndrome, type 4|Nephroblastoma
β
β
ββ2024β Residue 467
NM_024426.6(WT1):c.1384C>T (p.Gln462Ter)Likely pathogenic
Meacham syndrome;Drash syndrome;Nephrotic syndrome, type 4;Frasier syndrome|Nephrotic syndrome, type 4
β
β
ββ2023β Residue 462
NM_024426.6(WT1):c.834dup (p.Thr279fs)Pathogenic
Wilms tumor 1
β
β
ββ2023β Residue 279