| | FAM111A, LOC130005740 (T338R) | Single nucleotide variant (missense variant) | FAM111A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | FAM111A, LOC130005740 (T332A) | Single nucleotide variant (missense variant) | not provided | |
| | FAM111A, LOC130005740 (V337fs) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | not provided | |
| | FAM111A, LOC130005740 (S343L) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | FAM111A, LOC130005740 (K345N) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | FAM111A, LOC130005740 (V346A) | Single nucleotide variant (missense variant) | not provided | |
| | FAM111A, LOC130005740 (N340fs) | Duplication (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | FAM111A, LOC130005740 (I311F) | Single nucleotide variant (missense variant) | Osteocraniostenosis | |
| | | Single nucleotide variant (missense variant) | Osteocraniostenosis | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | FAM111A, LOC130005740 (V347del) | Microsatellite (inframe_deletion) | not provided | |
| | FAM111A, LOC130005740 (T338A) | Single nucleotide variant (missense variant) | Osteocraniostenosis | GPathogenic/Likely pathogenic |
| | FAM111A, LOC130005740 (S343del) | Microsatellite (inframe_deletion) | Autosomal dominant Kenny-Caffey syndrome +2 more | GPathogenic/Likely pathogenic |