| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | ERI1-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | ERI1-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Deletion (intron variant) | ERI1-related disorder | |
| | | Duplication (intron variant) | ERI1-related disorder | |
| | | Insertion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | ERI1-related disorder +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | ERI1-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | ERI1-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) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Guo-Campeau type | |
| | | Single nucleotide variant (synonymous variant) | ERI1-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | ERI1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ERI1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Hoxha-Aliu syndrome | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | ERI1-related disorder | |
| | | Single nucleotide variant (intron variant) | ERI1-related disorder | |
| | | Single nucleotide variant (intron variant) | ERI1-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (frameshift variant) | Abnormal finger morphology +3 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | ERI1-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (nonsense) | ERI1-associated disorder | |
| | | Single nucleotide variant (missense variant) | 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 provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Spondyloepimetaphyseal dysplasia, Guo-Campeau type | |
| | | 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 | See cases | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (splice donor variant) | Hoxha-Aliu syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Spondyloepimetaphyseal dysplasia, Guo-Campeau type | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Guo-Campeau type | |
| | | Single nucleotide variant (missense variant +1 more) | Spondyloepimetaphyseal dysplasia, Guo-Campeau type | |
| | | Single nucleotide variant (missense variant +1 more) | Spondyloepimetaphyseal dysplasia, Guo-Campeau type | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Guo-Campeau type | |
| | | Single nucleotide variant (nonsense) | Hoxha-Aliu syndrome | |