| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Duplication (frameshift variant) | Thyroid hormone resistance, generalized, autosomal dominant | |
| | | Microsatellite (inframe_deletion) | Thyroid hormone resistance, generalized, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Thyroid hormone resistance, generalized, autosomal dominant | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (intron variant) | THRB-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | THRB-related disorder | |
| | | Single nucleotide variant (missense variant) | THRB-related disorder | |
| | | Copy number gain | not provided | |
| | LOC126806630, THRB (G178R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | THRB-related disorder | |
| | | Single nucleotide variant (missense variant) | THRB-related disorder | |
| | | Single nucleotide variant (missense variant) | THRB-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | THRB-related disorder | |
| | | Single nucleotide variant (splice donor variant +1 more) | THRB-related disorder | |
| | | Single nucleotide variant (missense variant) | THRB-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | Thyroid hormone resistance, generalized, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC126806630, THRB (P181R +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (splice donor variant) | Macular dystrophy | |
| | | Indel (missense variant) | Thyroid hormone resistance, generalized, autosomal dominant | |
| | | 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) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Indel (missense variant) | not specified | |
| | FANCD2OS, THUMPD3 +148 more | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (missense variant) | Thyroid hormone resistance, generalized, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (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 | |
| | | 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) | Thyroid hormone resistance, generalized, autosomal dominant | |
| | THRB, THRB-AS2 (I122V +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | 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 (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid hormone resistance, generalized, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid hormone resistance, generalized, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid hormone resistance, generalized, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid hormone resistance, generalized, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid hormone resistance, generalized, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid hormone resistance, generalized, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid hormone resistance, generalized, autosomal dominant | |
| | | Single nucleotide variant (intron variant) | Thyroid hormone resistance, generalized, autosomal dominant +1 more | |
| | LOC126806630, THRB (E186K +1 more) | Single nucleotide variant (missense variant) | Thyroid hormone resistance, generalized, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Thyroid hormone resistance, generalized, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Selective pituitary resistance to thyroid hormone +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Thyroid hormone resistance, generalized, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant +1 more) | Thyroid hormone resistance, generalized, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid hormone resistance, generalized, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | Thyroid hormone resistance, generalized, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid hormone resistance, generalized, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid hormone resistance, generalized, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid hormone resistance, generalized, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid hormone resistance, generalized, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid hormone resistance, generalized, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid hormone resistance, generalized, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Thyroid hormone resistance, generalized, autosomal dominant | |