NM_001174147.2(LMX1B):c.784G>A (p.Val262Met)Pathogenic
not provided|Nail-patella syndrome
β
β
ββ2025β Residue 262
NM_001174147.2(LMX1B):c.691C>T (p.Arg231Ter)Pathogenic
Nail-patella syndrome|not provided|Inborn genetic diseases|Autosomal recessive Alport syndrome
β
β
ββ2025β Residue 231
NM_001174147.2(LMX1B):c.706G>C (p.Ala236Pro)Pathogenic
Nail-patella syndrome|not provided|Nail-patella syndrome;Nail-patella-like renal disease
β
β
ββ2025β Residue 236
NM_001174147.2(LMX1B):c.668G>A (p.Arg223Gln)Pathogenic
Nail-patella syndrome|not provided|LMX1B-related disorder|Nail-patella syndrome;Nail-patella-like renal disease
β
β
ββ2025β Residue 223
NM_001174147.2(LMX1B):c.667C>T (p.Arg223Trp)Pathogenic
LMX1B-related disorder|not provided|Inborn genetic diseases
β
β
ββ2025β Residue 223
NM_001174147.2(LMX1B):c.736C>T (p.Arg246Ter)Pathogenic
not provided|Nail-patella syndrome|Inborn genetic diseases
β
β
ββ2025β Residue 246
NM_001174147.2(LMX1B):c.229C>T (p.His77Tyr)Pathogenic
not provided|Nail-patella-like renal disease
β
β
ββ2025β Residue 77
NM_001174147.2(LMX1B):c.745C>T (p.Arg249Ter)Pathogenic
Nail-patella syndrome|not provided
β
β
ββ2025β Residue 249
NM_001174147.2(LMX1B):c.259C>T (p.Gln87Ter)Pathogenic
Nail-patella syndrome|Inborn genetic diseases
β
β
ββ2025β Residue 87
NM_001174147.2(LMX1B):c.303_304del (p.Tyr102fs)Pathogenic
Nail-patella syndrome|not provided
β
β
ββ2025β Residue 102
NM_001174147.2(LMX1B):c.781C>T (p.Arg261Cys)Pathogenic
not provided|Nail-patella syndrome
β
β
ββ2025β Residue 261
NM_001174147.2(LMX1B):c.244C>T (p.Gln82Ter)Pathogenic
Nail-patella syndrome|not provided|Nail-patella syndrome;Nail-patella-like renal disease
β
β
ββ2025β Residue 82
NM_001174147.2(LMX1B):c.838_853delinsAGCAGCAGGAGCAGCAGCAGGAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCAGG (p.Arg280fs)Pathogenic
not provided
β
β
ββ2025β Residue 280
NM_001174147.2(LMX1B):c.445C>T (p.Gln149Ter)Pathogenic
not provided|Nail-patella syndrome
β
β
ββ2025β Residue 149
NM_001174147.2(LMX1B):c.661C>T (p.Arg221Ter)Pathogenic
Nail-patella syndrome|not provided
β
β
ββ2025β Residue 221
NM_001174147.2(LMX1B):c.746G>A (p.Arg249Gln)Pathogenic
Nail-patella-like renal disease;Nail-patella syndrome|not provided
β
β
ββ2024β Residue 249
NM_001174147.2(LMX1B):c.207dup (p.Arg70fs)Pathogenic
not provided|Nail-patella syndrome
β
β
ββ2024β Residue 70
NM_001174147.2(LMX1B):c.807C>A (p.Asn269Lys)Pathogenic
Nail-patella syndrome|not provided|Nail-patella syndrome;Nail-patella-like renal disease
β
β
ββ2024β Residue 269
NM_001174147.2(LMX1B):c.169G>T (p.Glu57Ter)Pathogenic
Nail-patella syndrome|not provided
β
β
ββ2024β Residue 57
NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln)Pathogenic
not provided|Nail-patella syndrome|Nephrotic syndrome|Nail-patella-like renal disease|Nail-patella syndrome;Nail-patella-like renal disease|Inherited focal segmental glomerulosclerosis|LMX1B-related disorder
β
β
ββ2024β Residue 246