| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant) | TBC1D23-related condition | |
| | | Single nucleotide variant (synonymous variant) | TBC1D23-related condition | |
| | | Single nucleotide variant (missense variant) | TBC1D23-related condition | |
| | | Deletion (intron variant) | TBC1D23-related condition | |
| | | Single nucleotide variant (missense variant) | TBC1D23-related condition | |
| | | Single nucleotide variant (synonymous variant) | TBC1D23-related condition | |
| | | Single nucleotide variant (intron variant) | TBC1D23-related condition | |
| | | Single nucleotide variant (synonymous variant) | TBC1D23-related condition | |
| | | Single nucleotide variant (synonymous variant) | TBC1D23-related condition | |
| | | Single nucleotide variant (synonymous variant) | TBC1D23-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | TBC1D23-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | Chromosome 3q13.31 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia, type 11 | |
| | | Deletion (frameshift variant) | Pontocerebellar hypoplasia, type 11 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia, type 11 | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia, type 11 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Duplication (intron variant) | Pontocerebellar hypoplasia, type 11 | |
| | | Deletion (frameshift variant) | Pontocerebellar hypoplasia, type 11 | |
| | | Single nucleotide variant (splice donor variant) | Pontocerebellar hypoplasia, type 11 | |
| | | Deletion (frameshift variant) | Pontocerebellar hypoplasia, type 11 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Pontocerebellar hypoplasia, type 11 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia, type 11 | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia, type 11 | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia, type 11 | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia, type 11 | |
| | | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia, type 11 | |
| | | Deletion (frameshift variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Pontocerebellar hypoplasia, type 11 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (splice donor variant) | Pontocerebellar hypoplasia, type 11 | |
| | | Single nucleotide variant (splice donor variant) | Pontocerebellar hypoplasia, type 11 | |
| | | Single nucleotide variant (splice donor variant) | Pontoneocerebellar hypoplasia +1 more | |
| | | Indel (frameshift variant) | Pontocerebellar hypoplasia, type 11 +1 more | |
| | | Microsatellite (frameshift variant) | Pontoneocerebellar hypoplasia +1 more | |
| | | Copy number gain | See cases | |
| | AMOTL2, DNAJC13 +1343 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |