| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | KLF1, LOC117125591 (Q342H) | Single nucleotide variant (missense variant) | not provided | |
| | KLF1, LOC117125591 (E325K) | Single nucleotide variant (missense variant) | BLOOD GROUP--LUTHERAN INHIBITOR +2 more | |
| | KLF1, LOC117125591 (T302K) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | KLF1, LOC117125591 (R268L) | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia type 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GConflicting classifications of pathogenicity |
| | KLF1, LOC130063673 (Y181N) | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia type 4 +2 more | GConflicting classifications of pathogenicity |
| | KLF1, LOC130063673 (F148C) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Duplication | not provided | |
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