| | | Copy number gain | See cases | |
| | LOC129935343, LOC129935344 +1703 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129935726, LOC129935727 +1665 more | Copy number gain | See cases | |
| | LOC129935713, LOC129935714 +1299 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110120629, LOC110120691 +986 more | Copy number gain | See cases | |
| | | Single nucleotide variant (genic upstream transcript variant) | SchC6pf-Schulz-Passarge syndrome +2 more | |
| | | Single nucleotide variant (genic upstream transcript variant) | Selective tooth agenesis +2 more | |
| | | Single nucleotide variant (genic upstream transcript variant) | Selective tooth agenesis +2 more | |
| | | Single nucleotide variant (genic upstream transcript variant) | Selective tooth agenesis +2 more | |
| | | Single nucleotide variant (genic upstream transcript variant) | Selective tooth agenesis +2 more | |
| | | Single nucleotide variant (genic upstream transcript variant) | SchC6pf-Schulz-Passarge syndrome +2 more | |
| | | Single nucleotide variant (genic upstream transcript variant) | SchC6pf-Schulz-Passarge syndrome +2 more | |
| | | Single nucleotide variant (genic upstream transcript variant) | Selective tooth agenesis +2 more | |
| | | Single nucleotide variant (genic upstream transcript variant) | Selective tooth agenesis +3 more | |
| | | Duplication (genic upstream transcript variant) | SchC6pf-Schulz-Passarge syndrome +2 more | |
| | | Duplication (genic upstream transcript variant) | Selective tooth agenesis +2 more | |
| | | Single nucleotide variant (genic upstream transcript variant) | Selective tooth agenesis +2 more | |
| | | Single nucleotide variant (genic upstream transcript variant) | Selective tooth agenesis +2 more | |
| | | Single nucleotide variant (genic upstream transcript variant) | SchC6pf-Schulz-Passarge syndrome +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Odonto-onycho-dermal dysplasia +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Odonto-onycho-dermal dysplasia +2 more | |
| | | Deletion (inframe_deletion +1 more) | Tooth agenesis, selective, 4 +1 more | |
| | LOC129935620, LOC129935621 +5 more | Deletion | Tooth agenesis, selective, 4 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Deletion (frameshift variant +1 more) | Tooth agenesis, selective, 4 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Tooth agenesis, selective, 4 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Tooth agenesis, selective, 4 +1 more | |
| | | Single nucleotide variant (nonsense) | Tooth agenesis, selective, 4 | |
| | | Single nucleotide variant (nonsense) | Odonto-onycho-dermal dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Tooth agenesis, selective, 4 +1 more | |
| | | Single nucleotide variant (nonsense) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | Odonto-onycho-dermal dysplasia +2 more | |
| | | Single nucleotide variant (synonymous variant) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Tooth agenesis, selective, 4 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Microsatellite (frameshift variant) | Tooth agenesis, selective, 4 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Tooth agenesis, selective, 4 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Tooth agenesis, selective, 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Indel (frameshift variant) | Odonto-onycho-dermal dysplasia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Tooth agenesis, selective, 4 +1 more | |
| | | Single nucleotide variant (nonsense) | Tooth agenesis, selective, 4 +1 more | |
| | | Single nucleotide variant (nonsense) | Tooth agenesis, selective, 4 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Tooth agenesis, selective, 4 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Tooth agenesis, selective, 4 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Tooth agenesis, selective, 4 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Tooth agenesis, selective, 4 +1 more | |
| | | Deletion (frameshift variant) | Tooth agenesis, selective, 4 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Tooth agenesis, selective, 4 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Tooth agenesis, selective, 4 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Tooth agenesis, selective, 4 +1 more | |
| | | Duplication (frameshift variant) | Tooth agenesis, selective, 4 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | WNT10A-related disorder | |
| | | Single nucleotide variant (splice donor variant) | Tooth agenesis, selective, 4 +1 more | |
| | | Single nucleotide variant (intron variant) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Single nucleotide variant (intron variant) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Single nucleotide variant (intron variant) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Single nucleotide variant (intron variant) | Tooth agenesis, selective, 4 +1 more | |
| | | Single nucleotide variant (intron variant) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Tooth agenesis, selective, 4 +1 more | |
| | | Single nucleotide variant (intron variant) | Tooth agenesis, selective, 4 +1 more | |
| | | Single nucleotide variant (intron variant) | Tooth agenesis, selective, 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Tooth agenesis, selective, 4 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Tooth agenesis, selective, 4 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Deletion (frameshift variant) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | Tooth agenesis, selective, 4 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Tooth agenesis, selective, 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Tooth agenesis, selective, 4 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | Tooth agenesis, selective, 4 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Tooth agenesis, selective, 4 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Odonto-onycho-dermal dysplasia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Tooth agenesis, selective, 4 +1 more | |