| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (synonymous variant) | RAB18-related disorder | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | RAB18-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | RAB18-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Deletion (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Warburg micro syndrome 3 | |
| | | Copy number gain | Distal trisomy 10q | |
| | ABRAXAS2, CHCHD1 +673 more | Copy number loss | Distal 10q deletion syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Warburg micro syndrome 3 | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (missense variant) | Warburg micro syndrome 3 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Mosaic supernumerary isodicentric chromosome 10 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | 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 | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | Warburg micro syndrome 3 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Warburg micro syndrome 3 | |
| | | Single nucleotide variant (missense variant +2 more) | Warburg micro syndrome 3 | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |