| | | Single nucleotide variant (intron variant) | Hurler syndrome | |
| | | Duplication (frameshift variant +1 more) | Hurler syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Hurler syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +3 more) | Pontocerebellar hypoplasia type 6 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | intellectual deficiency | |
| | | Duplication (frameshift variant) | intellectual deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Hydrocephalus, nonsyndromic, autosomal recessive 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Deletion (frameshift variant) | intellectual deficiency | |
| | | Duplication (frameshift variant) | Coffin-Siris syndrome | |
| | | Single nucleotide variant (missense variant) | Epilepsy +1 more | |
| | | Deletion (frameshift variant) | Severe intellectual deficiency | |
| | | Single nucleotide variant (missense variant) | Focal dermal hypoplasia | |
| | | Single nucleotide variant (nonsense) | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 6 +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | TWIST1-related craniosynostosis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (frameshift variant) | dysmorphy +1 more | |
| | | Single nucleotide variant (missense variant) | Epilepsy +1 more | |
| | | Deletion (frameshift variant +1 more) | Epileptic encephalopathy | |
| | | Single nucleotide variant (splice donor variant) | Autism | |
| | | Deletion (frameshift variant +1 more) | Language retardation | |
| | | Single nucleotide variant (missense variant) | Severe intellectual deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Severe intellectual deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Severe intellectual deficiency +1 more | |
| | | Deletion (frameshift variant) | Cleft palate +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Intellectual disability +1 more | |
| | | Deletion (frameshift variant) | Severe intellectual deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | KBG syndrome | |
| | | Single nucleotide variant (missense variant) | Pierre Robin-like syndrome | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (splice donor variant) | Coffin-Siris syndrome | |
| | | Single nucleotide variant (missense variant) | Nicolaides-Baraitser syndrome | |
| | RORA, RORA-AS1 (R340fs +3 more) | Deletion (frameshift variant) | Severe intellectual deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Retinal dysplasia +2 more | |
| | | Deletion (frameshift variant) | POGZ-related disorder +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Wiedemann-Steiner syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Intellectual disability, X-linked 1 +2 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Lobar holoprosencephaly | |
| | | Single nucleotide variant (missense variant) | Lobar holoprosencephaly | |
| | LOC126859913, DLL1 (S706L) | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (inframe_indel) | not provided | |
| | | Single nucleotide variant (missense variant) | Holoprosencephaly sequence | |
| | | Single nucleotide variant (splice donor variant) | FGFR1-related disorder +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Microform holoprosencephaly | |
| | | Single nucleotide variant (missense variant) | Hartsfield-Bixler-Demyer syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (nonsense) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Semilobar holoprosencephaly | |
| | | Single nucleotide variant (stop lost) | Microform holoprosencephaly | |
| | | Single nucleotide variant (nonsense) | Microform holoprosencephaly | |
| | | Deletion (frameshift variant) | Microform holoprosencephaly | |
| | | Single nucleotide variant (nonsense) | Holoprosencephaly 9 +1 more | |
| | | Duplication (frameshift variant) | Microform holoprosencephaly | |
| | | Single nucleotide variant (missense variant +1 more) | Microform holoprosencephaly | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hartsfield-Bixler-Demyer syndrome | |
| | | Single nucleotide variant (nonsense) | Childhood onset GLUT1 deficiency syndrome 2 +6 more | |
| | | Single nucleotide variant (missense variant) | FOXG1 disorder | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | CHIME syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Pitt-Hopkins syndrome | |