| | | Copy number loss | See cases | |
| | LOC129998210, LOC129998211 +1148 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129389795, LOC129389796 +636 more | Copy number gain | See cases | |
| | BMPER, LOC110121066 +6 more | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | Diaphanospondylodysostosis | |
| | | Single nucleotide variant (5 prime UTR variant) | Diaphanospondylodysostosis | |
| | | Single nucleotide variant (5 prime UTR variant) | Diaphanospondylodysostosis | |
| | | Single nucleotide variant (5 prime UTR variant) | Diaphanospondylodysostosis | |
| | | Single nucleotide variant (5 prime UTR variant) | Diaphanospondylodysostosis | |
| | | Single nucleotide variant (5 prime UTR variant) | Diaphanospondylodysostosis | |
| | | Single nucleotide variant (5 prime UTR variant) | Diaphanospondylodysostosis | |
| | | Single nucleotide variant (5 prime UTR variant) | Diaphanospondylodysostosis | |
| | | Single nucleotide variant (5 prime UTR variant) | Diaphanospondylodysostosis | |
| | | Single nucleotide variant (5 prime UTR variant) | Diaphanospondylodysostosis | |
| | | Single nucleotide variant (intron variant) | Diaphanospondylodysostosis | |
| | | Single nucleotide variant (intron variant) | Diaphanospondylodysostosis | |
| | | Single nucleotide variant (5 prime UTR variant) | Diaphanospondylodysostosis | |
| | | Single nucleotide variant (5 prime UTR variant) | Diaphanospondylodysostosis | |
| | | Single nucleotide variant (5 prime UTR variant) | BMPER-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Indel (frameshift variant) | Diaphanospondylodysostosis | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Diaphanospondylodysostosis | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | BMPER-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | 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 (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | 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 (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Diaphanospondylodysostosis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Diaphanospondylodysostosis +1 more | |
| | | Single nucleotide variant (synonymous 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) | Diaphanospondylodysostosis +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Diaphanospondylodysostosis | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Diaphanospondylodysostosis | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Diaphanospondylodysostosis +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Diaphanospondylodysostosis +1 more | GConflicting classifications of pathogenicity |
| | | 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 | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |