| | KLF1, LOC117125591 (R340H) | Single nucleotide variant (missense variant) | KLF1-related disorder +1 more | |
| | KLF1, LOC117125591 (T302K) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | KLF1, LOC117125591 (T280M) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KLF1, LOC117125591 (T251I) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KLF1, LOC117125591 (T243M) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KLF1, LOC130063673 (Y181N) | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia type 4 +2 more | GConflicting classifications of pathogenicity |
| | KLF1, LOC130063673 (G180R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KLF1, LOC130063673 (G174S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KLF1, LOC130063673 (A165T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KLF1, LOC130063673 (E160K) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | KLF1, LOC130063673 (V123E) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |