| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication | not specified | |
| | | Single nucleotide variant (synonymous variant) | FAM136A-related disorder | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | FAM136A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | FAM136A-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Meniere disease | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | FAM136A-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | FAM136A-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | FAM136A-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | FAM136A-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | FAM136A-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | FAM136A-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | FAM136A-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | FAM136A-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | 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 | |
| | | Copy number loss | not provided | |
| | | Duplication | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Deletion | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |