| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | PATL2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | PATL2-related disorder | |
| | | Single nucleotide variant (missense variant) | PATL2-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | PATL2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | PATL2-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | PATL2-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | PATL2-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (inframe_deletion +1 more) | not provided | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Oocyte maturation defect 4 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | BLOC1S6, C15orf48 +61 more | Copy number loss | not specified | |
| | | Deletion | Hereditary spastic paraplegia 11 | |
| | | Single nucleotide variant (missense variant +1 more) | Oocyte maturation defect 4 | |
| | | Single nucleotide variant (splice donor variant) | Oocyte maturation defect 4 | |
| | | Single nucleotide variant (splice acceptor variant) | Oocyte maturation defect 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | ARPIN-AP3S2, COMMD4 +472 more | Duplication | Familial colorectal cancer +1 more | |
| | | Duplication | Arginine:glycine amidinotransferase deficiency | |
| | | Single nucleotide variant (missense variant) | PATL2-related disorder | |
| | | Duplication | Hereditary spastic paraplegia 11 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Oocyte maturation defect 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Oocyte maturation defect 4 | |
| | | Single nucleotide variant (missense variant) | Oocyte maturation defect 4 | |
| | | Single nucleotide variant (missense variant) | Oocyte maturation defect 4 | |
| | | Single nucleotide variant (splice donor variant) | Oocyte maturation defect 4 | |
| | | Deletion (splice acceptor variant +1 more) | Oocyte maturation defect 4 | |
| | | Single nucleotide variant (nonsense +2 more) | Oocyte maturation defect 4 | |
| | | Single nucleotide variant (nonsense) | Oocyte maturation defect 4 | |
| | | Single nucleotide variant (missense variant) | Oocyte maturation defect 4 | |
| | LOC130056977, PATL2 (R160*) | Single nucleotide variant (nonsense +1 more) | Oocyte maturation defect 2 +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |