| | | Single nucleotide variant (nonsense +1 more) | Autism +10 more | |
| | | Single nucleotide variant (missense variant) | Inguinal hernia +5 more | |
| | | Single nucleotide variant (missense variant) | Anemia +9 more | |
| | | Single nucleotide variant (missense variant) | not provided +14 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Abnormal upper limb bone morphology +15 more | |
| | | Single nucleotide variant (missense variant) | Cognitive impairment +12 more | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | High palate +9 more | |
| | | Deletion (frameshift variant +1 more) | Usher syndrome type 2A | |
| | | Single nucleotide variant (missense variant) | RASopathy +10 more | |
| | | Deletion (frameshift variant) | Downturned corners of mouth +16 more | |
| | | Deletion (frameshift variant) | Hypertelorism +13 more | |
| | | Single nucleotide variant (missense variant) | Progeroid and marfanoid aspect-lipodystrophy syndrome +14 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | Ventriculomegaly +6 more | |
| | | Copy number loss | Pes planus +13 more | |
| | | Copy number gain | Vascular dilatation +8 more | |
| | | Single nucleotide variant (missense variant) | High palate +6 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ectopia lentis +6 more | |
| | | Single nucleotide variant (nonsense) | Narrow chest +18 more | |
| | | Single nucleotide variant (missense variant) | Dolichocephaly +6 more | |
| | | Single nucleotide variant (missense variant) | Child syndrome +1 more | |
| | | Inversion | Short palpebral fissure +9 more | |
| | | Translocation | Lumbar hypertrichosis +12 more | |
| | | Translocation | Hypoplasia of the frontal lobes +11 more | |
| | | Translocation | Attention deficit hyperactivity disorder +13 more | |
| | | Translocation | Abnormality of mouth shape +18 more | |
| | | Translocation | Abnormal facial skeleton morphology +10 more | |
| | | Single nucleotide variant (missense variant) | KCNQ1-Related Disorders +23 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Acromicric dysplasia +14 more | |
| | | Single nucleotide variant (missense variant +2 more) | Cranial asymmetry +25 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Rare genetic deafness +23 more | GConflicting classifications of pathogenicity |