| | LOC129389216, LOC129389217 +757 more | Copy number gain | See cases | |
| | LOC129992695, LOC129992696 +533 more | Copy number gain | See cases | |
| | | Copy number loss | Chromosome 4q21 deletion syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | Brachydactyly | |
| | | Single nucleotide variant (5 prime UTR variant) | Brachydactyly | |
| | | Single nucleotide variant (5 prime UTR variant) | Brachydactyly | |
| | | Single nucleotide variant (5 prime UTR variant) | Brachydactyly | |
| | | Single nucleotide variant (5 prime UTR variant) | Brachydactyly | |
| | | Single nucleotide variant (5 prime UTR variant) | Brachydactyly +1 more | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | Brachydactyly | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Brachydactyly | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Acromesomelic dysplasia 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | BMPR1B-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | BMPR1B-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | BMPR1B-related disorder | |
| | | Deletion (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) | Idiopathic pulmonary arterial hypertension +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Type A2 brachydactyly +1 more | |
| | | Single nucleotide variant (missense variant) | Acromesomelic dysplasia 3 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Type A2 brachydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Type A2 brachydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Brachydactyly | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Acromesomelic dysplasia 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Acromesomelic dysplasia 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Acromesomelic dysplasia 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Type A2 brachydactyly +2 more | |
| | | Single nucleotide variant (missense variant) | Brachydactyly type A1D +1 more | |
| | | Single nucleotide variant (synonymous variant) | Acromesomelic dysplasia 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Acromesomelic dysplasia 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Acromesomelic dysplasia 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Acromesomelic dysplasia 3 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Type A2 brachydactyly +2 more | |
| | | Single nucleotide variant (missense variant) | Type A2 brachydactyly +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Acromesomelic dysplasia 3 | |
| | | Single nucleotide variant (missense variant) | Brachydactyly +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Type A2 brachydactyly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Acromesomelic dysplasia 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Brachydactyly +2 more | |
| | | Single nucleotide variant (missense variant) | Acromesomelic dysplasia 3 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Type A2 brachydactyly +1 more | |
| | | Single nucleotide variant (missense variant) | Type A2 brachydactyly +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Brachydactyly | |
| | | Single nucleotide variant (missense variant) | Acromesomelic dysplasia 3 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Acromesomelic dysplasia 3 +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 (intron variant) | Brachydactyly +2 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | Acromesomelic dysplasia 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Acromesomelic dysplasia 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Acromesomelic dysplasia 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Type A2 brachydactyly +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | BMPR1B-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | Acromesomelic dysplasia 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Acromesomelic dysplasia 3 +1 more | |
| | | Single nucleotide variant (missense variant) | BMPR1B-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Acromesomelic dysplasia 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Brachydactyly +2 more | |
| | | Single nucleotide variant (synonymous variant) | Acromesomelic dysplasia 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Acromesomelic dysplasia 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Type A2 brachydactyly +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Acromesomelic dysplasia 3 +1 more | |
| | | Deletion (frameshift variant) | Acromesomelic dysplasia 3 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Type A2 brachydactyly +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Brachydactyly | |
| | | Microsatellite (frameshift variant) | Acromesomelic dysplasia 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Acromesomelic dysplasia 3 +1 more | |
| | | Single nucleotide variant (missense variant) | BMPR1B-related disorder +5 more | |
| | | Single nucleotide variant (missense variant) | Acromesomelic dysplasia 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Acromesomelic dysplasia 3 +2 more | |