| | | Single nucleotide variant (nonsense) | Joubert syndrome 3 | |
| | | Deletion | Breast-ovarian cancer, familial, susceptibility to, 3 | |
| | | Deletion (frameshift variant +1 more) | Global developmental delay | |
| | | Single nucleotide variant (nonsense +1 more) | Saethre-Chotzen syndrome | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 4 | |
| | | Single nucleotide variant (missense variant) | Focal segmental glomerulosclerosis 5 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 49 +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 20 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Spastic paraplegia 80, autosomal dominant | |
| | | Single nucleotide variant (intron variant +1 more) | Leydig cell agenesis | |
| | | Deletion (intron variant +1 more) | Gonadotropin-independent familial sexual precocity +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant +1 more) | Severe myoclonic epilepsy in infancy | |
| | | Deletion (frameshift variant +1 more) | Retinitis pigmentosa 3 | |
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease type 4C | |
| | | Deletion (splice donor variant) | Intellectual developmental disorder with autism and macrocephaly | |
| | | Single nucleotide variant (missense variant) | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 3A | |
| | | Indel (nonsense) | Glycogen storage disease, type VI | |
| | | Duplication (frameshift variant) | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 65 | |
| | | Deletion (frameshift variant) | Skraban-Deardorff syndrome | |
| | DNM1, LOC113839516 (P144L) | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 31 | |
| | | Indel (frameshift variant) | Orofaciodigital syndrome I | |
| | | Single nucleotide variant (nonsense) | Exercise-induced hyperinsulinism | |
| | | Duplication (frameshift variant) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Deletion (frameshift variant) | Bosch-Boonstra-Schaaf optic atrophy syndrome | |
| | | Deletion (inframe_indel) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (intron variant) | Nemaline myopathy 2 | |
| | | Single nucleotide variant (splice donor variant) | Arthrogryposis multiplex congenita 6 | |
| | | Deletion (frameshift variant) | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 27 +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Deletion (frameshift variant) | Wiedemann-Steiner syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive cutis laxa type 2B | |
| | SPECC1L, SPECC1L-ADORA2A (D1000V +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Teebi hypertelorism syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Autism spectrum disorder due to AUTS2 deficiency | |
| | | Deletion (nonsense) | Brain small vessel disease 1 with or without ocular anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | von Willebrand disease type 1 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 19/22 +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Global developmental delay | |
| | | Single nucleotide variant (nonsense) | Anemia, congenital dyserythropoietic, type 1a | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Hyperphosphatasia with intellectual disability syndrome 3 | |
| | | Single nucleotide variant (nonsense +3 more) | Hyperphosphatasia with intellectual disability syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 65 | |
| | | Single nucleotide variant (missense variant +1 more) | Porencephaly-microcephaly-bilateral congenital cataract syndrome | |
| | | Deletion (inframe_deletion) | Cornelia de Lange syndrome 3 | |
| | | Single nucleotide variant (missense variant +1 more) | CODAS syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | CODAS syndrome | |
| | | Duplication (frameshift variant) | Intellectual disability, autosomal dominant 40 | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant) | MEHMO syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 57 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease IXa1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Monogenic diabetes +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial hypobetalipoproteinemia 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 13 | |
| | | Duplication (frameshift variant) | Rahman syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Klippel-Feil syndrome 1, autosomal dominant +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Deletion (frameshift variant +1 more) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (splice donor variant) | Hereditary spastic paraplegia +4 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Cardiovascular phenotype +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (nonsense) | Sotos syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary factor XI deficiency disease | |
| | | Single nucleotide variant (nonsense) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, dominant intermediate G +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 28 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | RASopathy +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Noonan syndrome | |
| | | Single nucleotide variant (missense variant) | Juvenile myelomonocytic leukemia +10 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Deletion (inframe_deletion) | Cystic fibrosis | |
| | | Single nucleotide variant (splice acceptor variant) | PKP2-related condition +5 more | |
| | | Single nucleotide variant (intron variant) | COG7 congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Alzheimer disease type 1 +20 more | GPathogenic/Pathogenic, low penetrance; other; risk factor |