| | | Single nucleotide variant (intron variant) | PTH1R-related condition +5 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | Eiken syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | Metaphyseal chondrodysplasia, Jansen type +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Primary failure of tooth eruption +4 more | |
| | | Single nucleotide variant (missense variant) | Primary failure of tooth eruption +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | Primary failure of tooth eruption +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Chondrodysplasia Blomstrand type +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Chondrodysplasia Blomstrand type +1 more | |
| | | Single nucleotide variant (missense variant) | Chondrodysplasia Blomstrand type +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Chondrodysplasia Blomstrand type +1 more | |
| | | Single nucleotide variant (missense variant) | Chondrodysplasia Blomstrand type +1 more | |
| | | Single nucleotide variant (missense variant) | Chondrodysplasia Blomstrand type +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Chondrodysplasia Blomstrand type +1 more | |
| | | Single nucleotide variant (missense variant) | Chondrodysplasia Blomstrand type +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Chondrodysplasia Blomstrand type +1 more | |
| | | Single nucleotide variant (missense variant) | Metaphyseal chondrodysplasia, Jansen type +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Chondrodysplasia Blomstrand type +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | Metaphyseal chondrodysplasia, Jansen type +4 more | |
| | | Single nucleotide variant (intron variant) | Chondrodysplasia Blomstrand type +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Connective tissue disorder +2 more | |
| | | Single nucleotide variant (synonymous variant) | Metaphyseal chondrodysplasia, Jansen type +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Connective tissue disorder +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (missense variant) | Chondrodysplasia Blomstrand type +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | Connective tissue disorder +5 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Chondrodysplasia Blomstrand type +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (intron variant) | PTH1R-related condition +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Chondrodysplasia Blomstrand type +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Chondrodysplasia Blomstrand type +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Chondrodysplasia Blomstrand type +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Metaphyseal chondrodysplasia, Jansen type +4 more | |
| | | Single nucleotide variant (synonymous variant) | Metaphyseal chondrodysplasia, Jansen type +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | Chondrodysplasia Blomstrand type +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | PTH1R-related condition +5 more | |
| | | Single nucleotide variant (intron variant) | Chondrodysplasia Blomstrand type +4 more | |
| | | Single nucleotide variant (intron variant) | Chondrodysplasia Blomstrand type +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Chondrodysplasia Blomstrand type +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Chondrodysplasia Blomstrand type +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | Eiken syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Chondrodysplasia Blomstrand type | |
| | | Single nucleotide variant (nonsense) | Chondrodysplasia Blomstrand type | |
| | | Deletion (frameshift variant) | Chondrodysplasia Blomstrand type | |
| | LOC129936652, PTH1R (P132L) | Single nucleotide variant (missense variant) | Metaphyseal chondrodysplasia, Jansen type +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |