| | | Single nucleotide variant (nonsense) | Autism +5 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Inguinal hernia +5 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inguinal hernia +5 more | |
| | | Duplication (frameshift variant) | Joint laxity +7 more | |
| | | Single nucleotide variant (splice donor variant) | Cohen syndrome | |
| | | Single nucleotide variant (missense variant) | Usher syndrome type 3B +14 more | GConflicting classifications of pathogenicity |
| | | Duplication (inframe_insertion) | Cerebellar ataxia +11 more | |
| | | Deletion | Joint laxity +4 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) | Autism +4 more | |
| | | Single nucleotide variant (missense variant) | Macrocephaly +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | Eichsfeld type congenital muscular dystrophy +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Genitopatellar syndrome +6 more | |
| | | Complex | Coloboma of optic nerve +15 more | |
| | | Translocation | Ear malformation +13 more | |