| | | Copy number gain | See cases | |
| | SLC28A2, SLC28A2-AS1 +26 more | Duplication | Arginine:glycine amidinotransferase deficiency | |
| | LOC130057000, LOC130057001 +40 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Copy number gain | Anomalous pulmonary venous return | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | DUOX2-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Thyroid dyshormonogenesis 6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Thyroid dyshormonogenesis 6 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Thyroid dyshormonogenesis 6 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (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 | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (splice donor variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |