| | | Single nucleotide variant (nonsense) | Autosomal recessive Robinow syndrome | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Autosomal recessive Robinow syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Brachydactyly type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive Robinow syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Brachydactyly type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Brachydactyly type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive Robinow syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Brachydactyly type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive Robinow syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Brachydactyly type B1 +2 more | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive Robinow syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Brachydactyly type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Brachydactyly type B1 +3 more | |
| | | Single nucleotide variant (missense variant) | Brachydactyly type B1 +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Deletion (3 prime UTR variant +1 more) | Autosomal recessive Robinow syndrome | |
| | | Single nucleotide variant (synonymous variant) | Brachydactyly type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive Robinow syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome | |
| | | Single nucleotide variant (splice donor variant) | Brachydactyly type B1 +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome +3 more | |
| | | Deletion (frameshift variant) | Autosomal recessive Robinow syndrome | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome | |
| | | Single nucleotide variant (missense variant) | Brachydactyly type B1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive Robinow syndrome | |
| | | Deletion (frameshift variant) | Autosomal recessive Robinow syndrome | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | Autosomal recessive Robinow syndrome | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome | |
| | | Microsatellite (frameshift variant) | Autosomal recessive Robinow syndrome | |
| | | Copy number loss | Autosomal recessive Robinow syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Brachydactyly type B1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome | |
| | | Microsatellite (splice donor variant) | Autosomal recessive Robinow syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive Robinow syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive Robinow syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Autosomal recessive Robinow syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive Robinow syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive Robinow syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive Robinow syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive Robinow syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive Robinow syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive Robinow syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive Robinow syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive Robinow syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Brachydactyly type B1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive Robinow syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive Robinow syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Autosomal recessive Robinow syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Robinow syndrome +1 more | |