| | LOC129935011, LOC129935012 +530 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935070, LOC129935071 +162 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935084, LOC129935085 +54 more | Copy number loss | See cases | |
| | LOC122847316, METTL8 (T352I +3 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | LOC122847316, METTL8 (V400I +3 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | LOC122847316, METTL8 (R379Q +3 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Woodhouse-Sakati syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (missense variant +3 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (missense variant +3 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (missense variant +3 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Woodhouse-Sakati syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | Woodhouse-Sakati syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Deletion (frameshift variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (nonsense +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (nonsense +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Woodhouse-Sakati syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +3 more) | Woodhouse-Sakati syndrome | |
| | DCAF17, METTL8 (G34A +1 more) | Single nucleotide variant (missense variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (missense variant +4 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Duplication (5 prime UTR variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Deletion (5 prime UTR variant +2 more) | Woodhouse-Sakati syndrome | |
| | | Deletion | Woodhouse-Sakati syndrome | |
| | | Deletion | Woodhouse-Sakati syndrome | |
| | | Copy number loss | not specified | |
| | | Duplication | not provided | |
| | | Duplication | not specified | |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Deletion | Split hand-foot malformation 5 | |
| | | Copy number gain | not specified | |
| | | Copy number loss | 2q24 microdeletion syndrome | |