| | LOC112577522, TSEN15 (S14G) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC112577522, TSEN15 (P11T) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC112577522, TSEN15 (E8Q) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number loss | not specified | |
| | LOC112577522, TSEN15 (L16M) | Single nucleotide variant (missense variant +1 more) | TSEN15-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | TSEN15-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | TSEN15-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC112577522, TSEN15 (G5S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | LOC112577522, TSEN15 (T10A) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Duplication | Parathyroid carcinoma +2 more | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Copy number gain | not provided | |
| | | 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 | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Pontocerebellar hypoplasia, type 2F | |
| | | Single nucleotide variant (missense variant +2 more) | Pontocerebellar hypoplasia, type 2F | |
| | | Single nucleotide variant (missense variant +1 more) | Pontocerebellar hypoplasia, type 2F | |
| | | Copy number loss | See cases | |
| | LOC129932075, LOC129932076 +560 more | Copy number loss | See cases | |
| | COLGALT2, LOC111501763 +10 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ANGPTL1, APOBEC4 +455 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129388668, LOC129388669 +477 more | Copy number loss | See cases | |
| | C1orf21, C1orf21-DT +21 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |