| | | Duplication (frameshift variant +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Microsatellite (frameshift variant +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Duplication (frameshift variant +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (nonsense +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Duplication (nonsense +1 more) | Intellectual disability, autosomal recessive 13 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Deletion (frameshift variant +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (nonsense +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Deletion (frameshift variant +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Duplication (frameshift variant +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (splice acceptor variant) | Intellectual disability, autosomal recessive 13 | |
| | | Deletion (frameshift variant +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 13 +1 more | |
| | | Deletion (frameshift variant +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Deletion (frameshift variant +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (nonsense +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (splice donor variant) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (splice donor variant) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Duplication (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Microsatellite (intron variant) | Intellectual disability, autosomal recessive 13 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (5 prime UTR variant) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Deletion (frameshift variant +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (nonsense +1 more) | Intellectual disability +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (nonsense +1 more) | Autism spectrum disorder | |
| | | Copy number loss | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (nonsense +1 more) | Abnormality of the nervous system +2 more | |
| | | Single nucleotide variant (splice donor variant) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 13 +2 more | |
| | | Duplication (5 prime UTR variant) | Intellectual disability, autosomal recessive 13 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Inborn genetic diseases +2 more | |
| | | | Intellectual disability, autosomal recessive 13 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Duplication (frameshift variant +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 13 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 13 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +4 more | |
| | | Duplication (frameshift variant +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual Disability, Recessive +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal recessive 13 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual Disability, Recessive +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual Disability, Recessive +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal recessive 13 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Intellectual disability, autosomal recessive 13 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Intellectual disability, autosomal recessive 13 +4 more | |
| | | Single nucleotide variant (nonsense +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Intellectual disability, autosomal recessive 13 +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Intellectual disability, autosomal recessive 13 +4 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal recessive 13 +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |