| | LOC126862722, LOC126862723 +1646 more | Copy number gain | See cases | |
| | LINC00683, LINC00907 +1643 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC01478, LINC01538 +1643 more | Copy number gain | See cases | |
| | LOC130062393, LOC130062394 +1643 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062575, LOC130062576 +1643 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062446, LOC130062447 +1266 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 | |
| | LOC125371434, LOC125371435 +879 more | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Dyggve-Melchior-Clausen syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Smith-McCort dysplasia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Dyggve-Melchior-Clausen syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +1 more | |
| | DYM, DYM-AS1 (D418N +18 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | DYM, DYM-AS1 (D667Y +18 more) | Single nucleotide variant (missense variant +1 more) | Dyggve-Melchior-Clausen syndrome +2 more | |
| | DYM, DYM-AS1 (Y404S +18 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | DYM, DYM-AS1 (G463S +18 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | DYM, DYM-AS1 (N573S +18 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | DYM, DYM-AS1 (Y457C +18 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | DYM, DYM-AS1 (V396fs +18 more) | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | DYM, DYM-AS1 (Y452C +18 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | DYM-AS1, DYM (V630M +18 more) | Single nucleotide variant (missense variant +1 more) | Dyggve-Melchior-Clausen syndrome +1 more | |
| | DYM, DYM-AS1 (K626fs +18 more) | Deletion (frameshift variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | 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 (splice donor variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | DYM-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | DYM-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Inborn genetic diseases | |
| | | 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 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Smith-McCort dysplasia +2 more | GConflicting classifications of pathogenicity |
| | | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Dyggve-Melchior-Clausen syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Smith-McCort dysplasia +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | 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 provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Dyggve-Melchior-Clausen syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | 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 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Smith-McCort dysplasia 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Malignant tumor of prostate | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Insertion (intron variant) | DYM-related disorder | |
| | | Single nucleotide variant (splice donor variant) | Dyggve-Melchior-Clausen syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Smith-McCort dysplasia +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (frameshift variant) | Dyggve-Melchior-Clausen syndrome | |
| | | Duplication (frameshift variant) | Dyggve-Melchior-Clausen syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Deletion (intron variant) | Dyggve-Melchior-Clausen syndrome | |
| | | Single nucleotide variant | Dyggve-Melchior-Clausen syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |