| | | 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 | |
| | | 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 | |
| | | Deletion | Diamond-Blackfan anemia 5 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | 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 | |
| | | 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 | |
| | | 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 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (intron variant) | LRCH3-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | LRCH3-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | LRCH3-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | LRCH3-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | LRCH3-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | LRCH3-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | LRCH3-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | LRCH3-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | LRCH3-related disorder | |
| | | Single nucleotide variant (intron variant) | LRCH3-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | LRCH3-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | LRCH3-related disorder | |
| | | Deletion (intron variant) | LRCH3-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | LRCH3-related disorder | |
| | | Single nucleotide variant (intron variant) | LRCH3-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | LRCH3-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | LRCH3-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | LRCH3-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | LRCH3-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | LRCH3-related disorder | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | LRCH3-related disorder | |
| | | 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 | Diamond-Blackfan anemia 5 | |
| | | 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 | |
| | | 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 | |
| | | 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 | |
| | | Duplication | not provided | |
| | | 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 | |
| | | 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 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Isolated anorectal malformation | |
| | | Copy number gain | See cases | |
| | IQCG, LOC107133517 +5 more | Duplication | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Chromosome 3q29 microdeletion syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number loss | 3q28q29 deletion syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |