| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | C17orf107, C17orf114 +498 more | Copy number loss | See cases | |
| | LOC130060077, LOC130060078 +911 more | Copy number gain | Chromosome 17p13.3 duplication syndrome | |
| | LOC130060025, LOC130060026 +458 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130060037, LOC130060038 +291 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | C17orf107, C17orf114 +68 more | Duplication | 7p22.1 microduplication syndrome | |
| | CAMTA2, CAMTA2-AS1 +48 more | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis | |
| | | Single nucleotide variant (synonymous variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis | |
| | | Deletion (frameshift variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis | |
| | | Single nucleotide variant (synonymous variant) | Ariboflavinosis | |
| | | Single nucleotide variant (synonymous variant) | SLC52A1-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis | |
| | | Single nucleotide variant (synonymous variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis | |
| | | Insertion (frameshift variant) | Ariboflavinosis | |
| | | Single nucleotide variant (synonymous variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis | |
| | | Deletion (splice acceptor variant) | Ariboflavinosis | |
| | | Single nucleotide variant (synonymous variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Ariboflavinosis | |
| | | Single nucleotide variant (intron variant) | Ariboflavinosis | |
| | | Single nucleotide variant (intron variant) | Ariboflavinosis | |
| | | Single nucleotide variant (intron variant) | Ariboflavinosis | |
| | | Single nucleotide variant (synonymous variant) | Ariboflavinosis | |
| | | Single nucleotide variant (synonymous variant) | Ariboflavinosis | |
| | | Deletion (frameshift variant) | Ariboflavinosis | |
| | | Single nucleotide variant (nonsense) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis | |
| | | Deletion (frameshift variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Ariboflavinosis | |
| | | Single nucleotide variant (synonymous variant) | Ariboflavinosis | |
| | | Single nucleotide variant (intron variant) | Ariboflavinosis | |
| | | Deletion (intron variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis | |
| | | Single nucleotide variant (synonymous variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis | |
| | | Single nucleotide variant (synonymous variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis +1 more | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis | |
| | | Microsatellite (inframe_insertion) | Ariboflavinosis | |
| | | Single nucleotide variant (synonymous variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (nonsense) | Ariboflavinosis | |
| | | Deletion (inframe_deletion) | Ariboflavinosis | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ariboflavinosis | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Ariboflavinosis | |