| | LOC130005622, LOC130005623 +224 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication | not specified | |
| | | Single nucleotide variant | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (5 prime UTR variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (5 prime UTR variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (5 prime UTR variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (5 prime UTR variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (missense variant +2 more) | Ovarian cancer | |
| | | 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 | |
| | EXT2, LOC130005600 +1 more | Deletion | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (intron variant) | Multiple congenital exostosis | |
| | | Single nucleotide variant (missense variant +1 more) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (synonymous variant) | EXT2-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Seizures-scoliosis-macrocephaly syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (synonymous variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (synonymous variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 2 | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 2 | |
| | | Deletion (frameshift variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Exostoses, multiple, type 2 | |
| | | Deletion (frameshift variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (synonymous variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (synonymous variant) | Exostoses, multiple, type 2 | |
| | | Microsatellite (frameshift variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Exostoses, multiple, type 2 | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (synonymous variant) | EXT2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 1 +3 more | |
| | | Indel (nonsense) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (synonymous variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (synonymous variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (nonsense) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (synonymous variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (synonymous variant) | Exostoses, multiple, type 2 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Exostoses, multiple, type 2 | |
| | | Deletion (frameshift variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (synonymous variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (synonymous variant) | Exostoses, multiple, type 2 | |
| | | Deletion (frameshift variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (synonymous variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 2 | |
| | | Duplication (frameshift variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 2 | |
| | | Deletion (frameshift variant) | Exostoses, multiple, type 2 | |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 2 | |
| | | Deletion (frameshift variant) | Exostoses, multiple, type 2 | |
| | | Duplication (frameshift variant) | Exostoses, multiple, type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 2 | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Exostoses, multiple, type 2 | |