| | | Deletion (frameshift variant) | Anxiety +10 more | |
| | | Single nucleotide variant (missense variant) | Clinodactyly +4 more | |
| | | Single nucleotide variant (nonsense) | Clinodactyly +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Focal-onset seizure +10 more | |
| | | | Familial Mediterranean fever | |
| | | Single nucleotide variant (missense variant) | Limb undergrowth +7 more | |
| | | Single nucleotide variant (nonsense) | Obesity +4 more | |
| | | Single nucleotide variant (nonsense +1 more) | Macrocephaly +6 more | |
| | | Deletion (frameshift variant) | Macrocephaly +1 more | |
| | | Deletion (frameshift variant) | Macrocephaly | |
| | | Deletion | Macrocephaly | |
| | LOC100507346, PTCH1 (L605fs +4 more) | Deletion (non-coding transcript variant +1 more) | PTCH1-related disorder | |
| | LOC130065793, RAB5IF +1 more (W25*) | Single nucleotide variant (nonsense +2 more) | Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Macrocephaly +2 more | |
| | | Single nucleotide variant (missense variant) | Macrocephaly +5 more | |
| | LOC129389600, LOC129996910 +5 more | Deletion | Macrocephaly +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Macrocephaly +4 more | |
| | | Copy number loss | Mild obesity +3 more | |
| | | Single nucleotide variant (missense variant) | Fatigable weakness +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Global developmental delay +2 more | |
| | | Single nucleotide variant (nonsense) | Pyknodysostosis +1 more | |
| | | Single nucleotide variant (missense variant) | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | See cases | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 8 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Mucopolysaccharidosis, MPS-II +6 more | |
| | | Single nucleotide variant (splice acceptor variant) | See cases +8 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Generalized hypotonia +5 more | |
| | LOC124225049, LOC124225050 +3 more | Copy number loss | Intellectual disability +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Macrocephaly +1 more | |
| | | Deletion (frameshift variant +1 more) | Macrocephaly +1 more | |
| | | Duplication (nonsense +2 more) | Macrocephaly +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Macrocephaly, acquired, with impaired intellectual development +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Macrocephaly, acquired, with impaired intellectual development +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Macrocephaly +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Macrocephaly, acquired, with impaired intellectual development +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Macrocephaly +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Myocarditis +3 more | |
| | | Single nucleotide variant (missense variant) | Macrocephaly +4 more | |
| | | Single nucleotide variant (missense variant) | Macrocephaly +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +7 more | |
| | | Deletion (frameshift variant) | Macrocephaly +4 more | |
| | | Microsatellite (frameshift variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Macrocephaly +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hypoglycemia +11 more | |
| | | Single nucleotide variant (missense variant +1 more) | Loss of consciousness +2 more | |
| | | Duplication (frameshift variant) | Cafe-au-lait spot +2 more | |
| | | Copy number gain | Dolichocephaly +3 more | |
| | | Copy number gain | Macrocephaly +2 more | |
| | | Copy number gain | Dolichocephaly +3 more | |
| | | Copy number loss | Pes valgus +9 more | |
| | | Single nucleotide variant (missense variant) | KBG syndrome +8 more | GConflicting classifications of pathogenicity |
| | TBC1D7, TBC1D7-LOC100130357 (V204fs +2 more) | Duplication (frameshift variant) | Macrocephaly | |
| | | Single nucleotide variant (missense variant +1 more) | PTEN hamartoma tumor syndrome +1 more | |
| | | | Macrocephaly +1 more | |
| | | Single nucleotide variant (nonsense) | Macrocephaly, acquired, with impaired intellectual development +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Inborn genetic diseases +15 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Macrocephaly +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +9 more | |
| | | Single nucleotide variant (missense variant) | Macrocephaly +1 more | |
| | | Deletion (frameshift variant) | Cleft palate +1 more | |
| | | Deletion (frameshift variant) | Biotinidase deficiency | |
| | | Deletion (inframe_deletion) | Macrocephaly +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Calcification of extrapyramidal basal ganglia +10 more | |
| | | Single nucleotide variant | Leigh syndrome +10 more | |
| | | Single nucleotide variant (missense variant +1 more) | Genitopatellar syndrome +6 more | |
| | | Translocation | Tall stature +6 more | |
| | | Inversion | Hypertelorism +8 more | |
| | | Translocation | Large for gestational age +9 more | |
| | | Translocation | Hypotonia +10 more | |
| | | Translocation | Cryptorchidism +12 more | |
| | | Inversion | Delayed speech and language development +1 more | |
| | | Translocation | Macrocephaly +1 more | |
| | | Translocation | Cryptorchidism +13 more | |
| | | Translocation | Clinodactyly of the 5th finger +14 more | |
| | | Inversion | Tall stature +3 more | |
| | | Translocation | Anteverted nares +9 more | |
| | | Translocation | Macrocephaly +12 more | |
| | | Translocation | Developmental cataract +3 more | |
| | | Translocation | Hemangioma +6 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cowden syndrome 1 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | PTEN hamartoma tumor syndrome | |
| | | Duplication | Macrocephaly +1 more | |
| | | Deletion (splice acceptor variant) | Macrocephaly +1 more | |
| | | Single nucleotide variant (nonsense) | Learning disability +6 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Macrocephaly +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +16 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial Mediterranean fever +13 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Monogenic diabetes +5 more | |
| | | Single nucleotide variant (missense variant) | Hypertrichotic osteochondrodysplasia Cantu type +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +24 more | GPathogenic/Likely pathogenic |