| | LOC340512, ZNF462 (V1488fs +1 more) | Deletion (frameshift variant) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (missense variant) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Weiss-kruszka syndrome | |
| | | Deletion (frameshift variant) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (missense variant) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (nonsense) | Weiss-kruszka syndrome | |
| | | Deletion (frameshift variant) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (nonsense) | Weiss-kruszka syndrome | |
| | | Deletion (frameshift variant +1 more) | Weiss-kruszka syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (nonsense) | Weiss-kruszka syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (missense variant) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Copy number loss | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (nonsense) | Weiss-kruszka syndrome | |
| | | Duplication (frameshift variant +1 more) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (nonsense) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (intron variant) | Weiss-kruszka syndrome | |
| | | Duplication (frameshift variant +1 more) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (missense variant) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (missense variant) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Weiss-kruszka syndrome | |
| | | Insertion (nonsense) | Weiss-kruszka syndrome | |
| | | Deletion (frameshift variant +1 more) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (missense variant) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (missense variant) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (nonsense) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Weiss-kruszka syndrome | |
| | | Duplication (frameshift variant +1 more) | Weiss-kruszka syndrome | |
| | | Insertion (frameshift variant +1 more) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (missense variant) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (missense variant) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (nonsense) | Weiss-kruszka syndrome | |
| | | Deletion (frameshift variant) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (missense variant) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | ZNF462-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Weiss-kruszka syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Weiss-kruszka syndrome +1 more | |
| | | Single nucleotide variant (splice donor variant) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (missense variant) | ZNF462-related condition +2 more | |
| | | Single nucleotide variant (nonsense) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (missense variant) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (missense variant) | Weiss-kruszka syndrome | |
| | | Deletion (frameshift variant) | Weiss-kruszka syndrome | |
| | | Insertion (frameshift variant) | Weiss-kruszka syndrome | |
| | ZNF462, LOC340512 (E1532G +1 more) | Single nucleotide variant (missense variant) | Weiss-kruszka syndrome | |
| | | Deletion (frameshift variant) | Weiss-kruszka syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | ZNF462-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Weiss-kruszka syndrome | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion (frameshift variant) | Weiss-kruszka syndrome | |
| | | Deletion (frameshift variant +1 more) | Weiss-kruszka syndrome | |
| | | Indel (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Craniosynostosis syndrome +2 more | |