| | | Deletion (frameshift variant) | Anxiety +10 more | |
| | | Single nucleotide variant (missense variant +1 more) | Focal-onset seizure +10 more | |
| | | Single nucleotide variant (missense variant) | Pes planus +3 more | |
| | | Deletion (frameshift variant) | Pes planus +8 more | |
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a JAG1 point mutation +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Usher syndrome type 3B +14 more | GConflicting classifications of pathogenicity |
| | | Duplication (inframe_insertion) | Cerebellar ataxia +11 more | |
| | | Single nucleotide variant (missense variant) | Lens luxation +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Gastroesophageal reflux +11 more | |
| | | Single nucleotide variant (missense variant) | Aspiration pneumonia +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Generalized hypotonia +9 more | |
| | | Single nucleotide variant (nonsense) | Hearing impairment +7 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, neonatal form +10 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | Pes planus +13 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, myopathic form +13 more | |
| | AIFM1, RAB33A (M340T +2 more) | Single nucleotide variant (missense variant +3 more) | Combined oxidative phosphorylation deficiency +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Dolichocephaly +6 more | |
| | | Translocation | Lumbar hypertrichosis +12 more | |
| | | Translocation | Attention deficit hyperactivity disorder +13 more | |