| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932493, LOC129932494 +1325 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932930, LOC129932931 +967 more | Copy number gain | See cases | |
| | LOC129932702, LOC129932703 +954 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932675, LOC129932676 +952 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126806063, LOC126806064 +378 more | Copy number loss | See cases | |
| | | Copy number loss | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Deletion (3 prime UTR variant) | Familial erythrocytosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial erythrocytosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Duplication (3 prime UTR variant) | Familial erythrocytosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Deletion (3 prime UTR variant) | Familial erythrocytosis | |
| | | Deletion (3 prime UTR variant) | Familial erythrocytosis | |
| | | Microsatellite (3 prime UTR variant) | Familial erythrocytosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Insertion (3 prime UTR variant) | Familial erythrocytosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Microsatellite (3 prime UTR variant) | Familial erythrocytosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Deletion (3 prime UTR variant) | Familial erythrocytosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Deletion (3 prime UTR variant) | Familial erythrocytosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Deletion (3 prime UTR variant) | Familial erythrocytosis | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hereditary cancer-predisposing syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Erythrocytosis, familial, 3 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Erythrocytosis, familial, 3 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Erythrocytosis, familial, 3 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Deletion (3 prime UTR variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hereditary cancer-predisposing syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Duplication (3 prime UTR variant +1 more) | Erythrocytosis, familial, 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Hereditary cancer-predisposing syndrome +1 more | |