| | | Single nucleotide variant (3 prime UTR variant) | Congenital dyserythropoietic anemia type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital dyserythropoietic anemia type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital dyserythropoietic anemia type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital dyserythropoietic anemia type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital dyserythropoietic anemia type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital dyserythropoietic anemia type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital dyserythropoietic anemia type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital dyserythropoietic anemia type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital dyserythropoietic anemia type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital dyserythropoietic anemia type 4 | |
| | LOC117125591, KLF1 (R346C) | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia type 4 | |
| | KLF1, LOC117125591 (F339S) | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia type 4 | |
| | KLF1, LOC117125591 (R268L) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | KLF1, LOC117125591 (E253K) | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia type 4 | |
| | | Single nucleotide variant (synonymous variant) | Congenital dyserythropoietic anemia type 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia type 4 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital dyserythropoietic anemia type 4 +1 more | GConflicting classifications of pathogenicity |
| | KLF1, LOC130063673 (F182L) | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia type 4 +1 more | |
| | KLF1, LOC130063673 (Y181N) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | KLF1, LOC130063673 (G174C) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | KLF1, LOC130063673 (E160K) | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | KLF1, LOC130063673 (R137C) | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia type 4 | |
| | KLF1, LOC130063673 (G118D) | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia type 4 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia type 4 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital dyserythropoietic anemia type 4 | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Congenital dyserythropoietic anemia type 4 | |
| | | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia type 4 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Congenital dyserythropoietic anemia type 4 | |