| | LOC111365169, LOC111365189 +833 more | Copy number gain | See cases | |
| | MIR6869, MIR6870 +828 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Renal agenesis | |
| | LOC130065416, LOC130065417 +579 more | Copy number gain | See cases | |
| | LOC126862999, LOC126863005 +814 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130065566, LOC130065567 +2522 more | Copy number gain | See cases | |
| | LOC130065574, LOC130065575 +950 more | Copy number gain | See cases | |
| | LOC130065467, LOC130065468 +117 more | Copy number loss | See cases | |
| | DZANK1, LOC126862987 +7 more | Copy number loss | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | Congenital dyserythropoietic anemia, type II +2 more | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Congenital dyserythropoietic anemia | |
| | | Single nucleotide variant (intron variant) | Congenital dyserythropoietic anemia | |
| | | Single nucleotide variant (intron variant) | Congenital dyserythropoietic anemia | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital dyserythropoietic anemia | |
| | | Single nucleotide variant (intron variant) | Congenital dyserythropoietic anemia | |
| | | Single nucleotide variant (intron variant) | Congenital dyserythropoietic anemia | |
| | | Single nucleotide variant (intron variant) | Congenital dyserythropoietic anemia | |
| | | Single nucleotide variant (intron variant) | Congenital dyserythropoietic anemia | |
| | | Single nucleotide variant (intron variant) | Congenital dyserythropoietic anemia | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Congenital dyserythropoietic anemia, type II | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital dyserythropoietic anemia, type II | |
| | | Single nucleotide variant (5 prime UTR variant) | Congenital dyserythropoietic anemia, type II | |
| | | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia, type II +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital dyserythropoietic anemia, type II +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital dyserythropoietic anemia, type II +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cowden syndrome 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cowden syndrome 7 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia, type II +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cowden syndrome 7 +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia, type II +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Congenital dyserythropoietic anemia, type II +1 more | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome 7 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Congenital dyserythropoietic anemia, type II +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital dyserythropoietic anemia, type II +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Congenital dyserythropoietic anemia, type II +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cowden syndrome 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital dyserythropoietic anemia, type II +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Congenital dyserythropoietic anemia, type II +1 more | |
| | | Deletion (frameshift variant) | Congenital dyserythropoietic anemia, type II | |
| | | Single nucleotide variant (synonymous variant) | Cowden syndrome 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital dyserythropoietic anemia, type II +1 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital dyserythropoietic anemia, type II +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cowden syndrome 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital dyserythropoietic anemia, type II +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital dyserythropoietic anemia, type II +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cowden syndrome 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia, type II | |
| | | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia, type II +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia, type II +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cowden syndrome 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome 7 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Congenital dyserythropoietic anemia, type II +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Cowden syndrome 7 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital dyserythropoietic anemia, type II +1 more | |
| | | Single nucleotide variant (intron variant) | Cowden syndrome 7 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Cowden syndrome 7 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | SEC23B-related condition | |
| | | Single nucleotide variant (intron variant) | SEC23B-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (intron variant) | Congenital dyserythropoietic anemia, type II +1 more | |
| | | Deletion (intron variant) | Congenital dyserythropoietic anemia, type II +1 more | |
| | | Single nucleotide variant (intron variant) | Cowden syndrome 7 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital dyserythropoietic anemia, type II +1 more | |
| | | Single nucleotide variant (intron variant) | Cowden syndrome 7 +1 more | |
| | | Deletion | Congenital dyserythropoietic anemia, type II +1 more | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Deletion | Cowden syndrome 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cowden syndrome 7 +1 more | |
| | | Single nucleotide variant (nonsense) | Congenital dyserythropoietic anemia, type II +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia, type II | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Cowden syndrome 7 +1 more | |
| | | Single nucleotide variant (nonsense) | Cowden syndrome 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital dyserythropoietic anemia, type II +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Congenital dyserythropoietic anemia, type II +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital dyserythropoietic anemia, type II +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital dyserythropoietic anemia, type II +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital dyserythropoietic anemia, type II +1 more | |