| | LINC02553, LINC02700 +528 more | Copy number loss | See cases | |
| | LOC101929174, LOC102723838 +378 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ANGPTL5, ARHGAP42 +149 more | Copy number loss | See cases | |
| | LOC130006930, LOC130006931 +1199 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Amelogenesis imperfecta hypomaturation type 2A2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Amelogenesis imperfecta hypomaturation type 2A2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Amelogenesis Imperfecta, Recessive | |
| | | Single nucleotide variant (3 prime UTR variant) | Amelogenesis imperfecta hypomaturation type 2A2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Amelogenesis imperfecta hypomaturation type 2A2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Amelogenesis imperfecta hypomaturation type 2A2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Amelogenesis imperfecta hypomaturation type 2A2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Amelogenesis imperfecta hypomaturation type 2A2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Amelogenesis imperfecta hypomaturation type 2A2 | |
| | | Single nucleotide variant (missense variant) | Amelogenesis imperfecta hypomaturation type 2A2 | |
| | | Single nucleotide variant (missense variant) | Amelogenesis imperfecta hypomaturation type 2A2 | |
| | | Single nucleotide variant (synonymous variant) | Amelogenesis imperfecta hypomaturation type 2A2 | |
| | | Single nucleotide variant (missense variant) | Amelogenesis imperfecta hypomaturation type 2A2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Amelogenesis imperfecta hypomaturation type 2A2 | |
| | | Single nucleotide variant (nonsense) | Amelogenesis imperfecta hypomaturation type 2A2 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Amelogenesis imperfecta hypomaturation type 2A2 | |
| | | Single nucleotide variant (synonymous variant) | Amelogenesis imperfecta hypomaturation type 2A2 | |
| | | Single nucleotide variant (synonymous variant) | MMP20-related condition | |
| | | 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 (intron variant) | Amelogenesis imperfecta hypomaturation type 2A2 | |
| | | Single nucleotide variant (missense variant) | Amelogenesis imperfecta hypomaturation type 2A2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 56 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Amelogenesis imperfecta hypomaturation type 2A2 | |
| | | Single nucleotide variant (missense variant) | Amelogenesis imperfecta hypomaturation type 2A2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 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 (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Amelogenesis imperfecta hypomaturation type 2A2 | |
| | | Single nucleotide variant (missense variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (missense variant) | Amelogenesis imperfecta hypomaturation type 2A2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice acceptor variant) | MMP20-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | Amelogenesis Imperfecta, Recessive | |
| | | Deletion (intron variant) | Amelogenesis Imperfecta, Recessive | |
| | | Deletion (intron variant) | Amelogenesis Imperfecta, Recessive | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | Amelogenesis Imperfecta, Recessive +1 more | |
| | | Deletion (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | Schizophrenia | |
| | | 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 (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Amelogenesis imperfecta hypomaturation type 2A2 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | MMP20-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | MMP20-related condition | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | 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 | |
| | | Insertion (intron variant) | not provided | |
| | | Insertion (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 | |
| | | Indel (splice donor variant) | Amelogenesis imperfecta hypomaturation type 2A2 | |