| | LOC129931453, LOC129931454 +1585 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129388624, LOC129388625 +407 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129932075, LOC129932076 +560 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | RABGAP1L-DT, SNORD78 +79 more | Deletion | Hereditary antithrombin deficiency | |
| | LOC129388640, LOC129931948 +88 more | Deletion | Hereditary antithrombin deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | MRPS14-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | MRPS14-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | LOC129931958, MRPS14 (Q15E) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | MRPS14-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | LOC129931958, MRPS14 (G7V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129931958, MRPS14 (M5T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129931958, MRPS14 (M5V) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not specified | |
| | ANKRD45, C1orf105 +26 more | Copy number loss | not specified | |
| | METTL13, MIR199A2 +68 more | Copy number loss | not specified | |
| | | Duplication | Parathyroid carcinoma +2 more | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | 1q24q25 microdeletion syndrome | |
| | | Deletion | 1q24q25 microdeletion syndrome | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |