| | | Single nucleotide variant (synonymous variant) | AP1G1-related disorder | |
| | | Deletion (intron variant) | AP1G1-related disorder | |
| | | Single nucleotide variant (nonsense) | AP1G1-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (splice acceptor variant) | See cases | |
| | | Deletion | not provided | |
| | | Deletion | Immunodeficiency | |
| | | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Usmani-Riazuddin syndrome, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Usmani-Riazuddin syndrome, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (frameshift variant) | Usmani-Riazuddin syndrome, autosomal dominant | |
| | | Insertion (intron variant) | AP1G1-related disorder | |
| | | Single nucleotide variant (missense variant) | AP1G1-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | Usmani-Riazuddin syndrome, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | AP1G1-related disorder | |
| | | Single nucleotide variant (missense variant) | AP1G1-related disorder | |
| | | Single nucleotide variant (missense variant) | AP1G1-related disorder | |
| | | Duplication (splice donor variant) | AP1G1-related disorder | |
| | | Single nucleotide variant (missense variant) | AP1G1-related disorder | |
| | | Deletion (nonsense) | AP1G1-related disorder | |
| | | Single nucleotide variant (missense variant) | AP1G1-related disorder | |
| | | Single nucleotide variant (splice donor variant) | Usmani-Riazuddin syndrome, autosomal recessive | |
| | | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion | Dyskeratosis congenita, autosomal dominant 6 | |
| | | 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) | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | Usmani-Riazuddin syndrome, autosomal dominant | |
| | | Single nucleotide variant (nonsense) | Usmani-Riazuddin syndrome, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Usmani-Riazuddin syndrome, autosomal dominant | |
| | | Copy number gain | Syndromic anorectal malformation | |
| | | Duplication | not specified | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | Usmani-Riazuddin syndrome, autosomal dominant | |
| | | Indel (inframe_indel) | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | Immunodeficiency | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Usmani-Riazuddin syndrome, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Usmani-Riazuddin syndrome, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Usmani-Riazuddin syndrome, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Usmani-Riazuddin syndrome, autosomal dominant +1 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |
| | KCTD19, KIAA0513 +368 more | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |