| | | Copy number gain | See cases | |
| | LOC120908923, LOC120947224 +1352 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932855, LOC129932856 +1168 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC02765, LINC02768 +955 more | Copy number gain | See cases | |
| | LOC440742, LYPD8 +955 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932825, LOC129932826 +952 more | Copy number gain | See cases | |
| | LOC129932658, LOC129932659 +950 more | Copy number gain | See cases | |
| | LOC126806053, LOC126806054 +870 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| | | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC132088686, LOC440742 +277 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Microsatellite | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Deletion | Fumarase deficiency | |
| | | Deletion | Fumarase deficiency | |
| | | Single nucleotide variant | Hereditary leiomyomatosis and renal cell cancer +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary leiomyomatosis and renal cell cancer +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary leiomyomatosis and renal cell cancer +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Fumarase deficiency +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Deletion | Fumarase deficiency | |
| | | Deletion | not provided | |
| | | Deletion | Fumarase deficiency | |
| | | Duplication | Fumarase deficiency | |
| | | Duplication | Fumarase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (stop lost) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (stop lost) | not provided | |
| | | Single nucleotide variant (stop lost) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (inframe_deletion +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Fumarase deficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Insertion (inframe_insertion) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Duplication (frameshift variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Fumarase deficiency | |
| | | Deletion (frameshift variant) | Hereditary cancer-predisposing syndrome | |