| | LOC126862863, LOC126862864 +536 more | Copy number gain | See cases | |
| | LOC130063608, LOC130063609 +484 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC112543445, LOC112543446 +355 more | Copy number loss | See cases | |
| | LOC129391074, LOC130063625 +351 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | 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) | Congenital dyserythropoietic anemia type 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital dyserythropoietic anemia type 4 +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 (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | BLOOD GROUP--LUTHERAN INHIBITOR | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC117125591, KLF1 (R346C) | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia type 4 | |
| | KLF1, LOC117125591 (Q342H) | Single nucleotide variant (missense variant) | not provided | |
| | KLF1, LOC117125591 (Q342L) | Single nucleotide variant (missense variant) | not provided | |
| | KLF1, LOC117125591 (Q342E) | Single nucleotide variant (missense variant) | not provided | |
| | KLF1, LOC117125591 (C341Y) | Single nucleotide variant (missense variant) | not provided | |
| | KLF1, LOC117125591 (R340H) | Single nucleotide variant (missense variant) | KLF1-related disorder +1 more | |
| | KLF1, LOC117125591 (F339S) | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia type 4 | |
| | KLF1, LOC117125591 (P338S) | Single nucleotide variant (missense variant) | BLOOD GROUP--LUTHERAN INHIBITOR +2 more | |
| | KLF1, LOC117125591 (T334R) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | GConflicting classifications of pathogenicity |
| | KLF1, LOC117125591 (L326R) | Single nucleotide variant (missense variant) | BLOOD GROUP--LUTHERAN INHIBITOR | |
| | KLF1, LOC117125591 (E325K) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | KLF1, LOC117125591 (R319fs) | Duplication (frameshift variant) | BLOOD GROUP--LUTHERAN INHIBITOR | |
| | KLF1, LOC117125591 (W318C) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | KLF1, LOC117125591 (W318R) | Single nucleotide variant (missense variant) | not provided | |
| | KLF1, LOC117125591 (C316*) | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | KLF1, LOC117125591 (A310P) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | KLF1-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Congenital dyserythropoietic anemia type 4 | |
| | KLF1, LOC117125591 (T302K) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | KLF1, LOC117125591 (T302fs) | Microsatellite (frameshift variant) | not provided | |
| | KLF1, LOC117125591 (H299D) | Single nucleotide variant (missense variant) | not provided | |
| | KLF1, LOC117125591 (H299Y) | Single nucleotide variant (missense variant) | BLOOD GROUP--LUTHERAN INHIBITOR | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | KLF1, LOC117125591 (A298P) | Single nucleotide variant (missense variant) | not provided | |
| | KLF1, LOC117125591 (K292*) | Single nucleotide variant (nonsense) | BLOOD GROUP--LUTHERAN INHIBITOR | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | KLF1, LOC117125591 (K288*) | Single nucleotide variant (nonsense) | Fetal hemoglobin quantitative trait locus 6 | |
| | KLF1, LOC117125591 (G285D) | Single nucleotide variant (missense variant) | not provided | |
| | KLF1, LOC117125591 (P284L) | Single nucleotide variant (missense variant) | not provided | |
| | KLF1, LOC117125591 (T280M) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | KLF1, LOC117125591 (S270W) | Single nucleotide variant (missense variant) | BLOOD GROUP--LUTHERAN INHIBITOR +1 more | GConflicting classifications of pathogenicity |
| | KLF1, LOC117125591 (R268L) | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia type 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | KLF1, LOC117125591 (A262G) | Single nucleotide variant (missense variant) | not provided | |
| | KLF1, LOC117125591 (A262S) | Single nucleotide variant (missense variant) | not provided | |
| | KLF1, LOC117125591 (I258T) | Single nucleotide variant (missense variant) | not provided | |
| | KLF1, LOC117125591 (E253K) | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia type 4 | |
| | KLF1, LOC117125591 (T251I) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | KLF1, LOC117125591 (T243M) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | KLF1-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia type 4 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia type 4 +1 more | |
| | | Single nucleotide variant (missense variant) | KLF1-related disorder | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Congenital dyserythropoietic anemia type 4 +1 more | GConflicting classifications of pathogenicity |
| | KLF1, LOC130063673 (Y197*) | Single nucleotide variant (nonsense) | BLOOD GROUP--LUTHERAN INHIBITOR | |
| | KLF1, LOC130063673 (P196L) | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia type 4 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | KLF1, LOC130063673 (P190fs) | Deletion (frameshift variant) | BLOOD GROUP--LUTHERAN INHIBITOR | |
| | KLF1, LOC130063673 (G186R) | Single nucleotide variant (missense variant) | KLF1-related disorder | |
| | KLF1, LOC130063673 (F182L) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | KLF1, LOC130063673 (Y181N) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | KLF1, LOC130063673 (G180R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC130063673, KLF1 (G176fs) | Duplication (frameshift variant) | BLOOD GROUP--LUTHERAN INHIBITOR +1 more | GConflicting classifications of pathogenicity |