| | HYLS1, PUS3 (R166Q +2 more) | Single nucleotide variant (5 prime UTR variant +2 more) | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Kabuki syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 33 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Genetic syndrome with a Dandy-Walker malformation as major feature +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Dandy-Walker syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Sensorineural hearing loss disorder +20 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Sensorineural hearing loss disorder +22 more | |
| | | Single nucleotide variant (missense variant +1 more) | Sensorineural hearing loss disorder +19 more | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 33 | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Tubulinopathy-associated dysgyria +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Noonan syndrome-like disorder with loose anagen hair 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Cerebellar atrophy +5 more | |
| | | Deletion (frameshift variant) | Cerebellar atrophy +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 | |
| | | Single nucleotide variant (nonsense) | Alkuraya-Kucinskas syndrome +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |