| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | 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 | |
| | | Deletion (inframe_deletion) | Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency | |
| | | Deletion (frameshift variant) | Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Microsatellite (splice donor variant) | Congenital myasthenic syndrome 8 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 8 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 8 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 8 | |
| | | Duplication (inframe_insertion) | Congenital myasthenic syndrome 8 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Combined immunodeficiency due to OX40 deficiency | |
| | | Single nucleotide variant (intron variant) | Combined immunodeficiency due to OX40 deficiency | |
| | | Single nucleotide variant (intron variant) | Combined immunodeficiency due to OX40 deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency due to OX40 deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency due to OX40 deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency due to OX40 deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency due to OX40 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | B3GALT6-related disorder +3 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more | |
| | | Deletion (frameshift variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (inframe_insertion) | Spondyloepimetaphyseal dysplasia with joint laxity +1 more | |
| | | Microsatellite (inframe_insertion) | Spondyloepimetaphyseal dysplasia with joint laxity +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_insertion) | Spondyloepimetaphyseal dysplasia with joint laxity +1 more | |
| | | 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 | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities | |
| | | 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 (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Microsatellite (frameshift variant) | VWA1-related disorder | |
| | | Microsatellite (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Neuronopathy, distal hereditary motor, autosomal recessive 7 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | VWA1-related disorder | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | Neuronopathy, distal hereditary motor, autosomal recessive 7 | |
| | | Deletion (frameshift variant +1 more) | Neuronopathy, distal hereditary motor, autosomal recessive 7 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | 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 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant) | not specified | |
| | | Single nucleotide variant (non-coding transcript 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 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) | Intellectual disability, autosomal dominant 42 | |
| | | Single nucleotide variant (splice acceptor variant) | Intellectual disability, autosomal dominant 42 | |
| | | Single nucleotide variant (intron variant) | not provided | |