| | | Single nucleotide variant (nonsense) | Distal arthrogryposis type 5D | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 21 | |
| | | Single nucleotide variant (missense variant +1 more) | Diamond-Blackfan anemia 21 | |
| | | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2A | |
| | | Single nucleotide variant (missense variant) | Hypotrichosis 7 | |
| | | Deletion (splice acceptor variant) | Osteogenesis imperfecta type 16 | |
| | | Single nucleotide variant (missense variant) | Distal arthrogryposis type 5D | |
| | | Single nucleotide variant (nonsense) | Achondrogenesis, type IA | |
| | | Deletion (frameshift variant) | Intellectual developmental disorder, autosomal dominant 72 | |
| | | Single nucleotide variant (missense variant) | Nail-patella syndrome | |
| | | Single nucleotide variant (missense variant) | Distal arthrogryposis type 5D +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Factor XIII, A subunit, deficiency of | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (nonsense) | Hyperparathyroidism, transient neonatal | |
| | CYP11B2, LOC106799834 (R181P) | Single nucleotide variant (missense variant) | Corticosterone methyloxidase type 2 deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Fatal infantile hypertonic myofibrillar myopathy | |
| | | Single nucleotide variant (splice acceptor variant) | Joubert syndrome 6 | |
| | | Deletion (frameshift variant) | Axenfeld-Rieger syndrome type 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Joubert syndrome 6 | |
| | | Single nucleotide variant (splice acceptor variant) | Pelizaeus-Merzbacher disease | |
| | | Deletion (inframe_deletion +1 more) | See cases | |
| | FUZ, LOC105372435
+1 more (E151K +2 more) | Single nucleotide variant (missense variant +1 more) | See cases | |
| | | Single nucleotide variant (nonsense) | 3M syndrome 1 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked syndromic, Turner type | |
| | | Single nucleotide variant (missense variant) | Congenital amegakaryocytic thrombocytopenia | |
| | | Deletion (frameshift variant) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Progressive pseudorheumatoid dysplasia | |
| | | Single nucleotide variant (splice acceptor variant) | Neurofibromatosis, type 1 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | |
| | | Duplication (frameshift variant) | X-linked lissencephaly with abnormal genitalia | |
| | GJD2-DT, ACTC1 (R227H +2 more) | Single nucleotide variant (missense variant) | Arthrogryposis | |
| | LOC126861106, TUBGCP2 (Q213P +2 more) | Single nucleotide variant (missense variant +1 more) | Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | |
| | | Deletion (frameshift variant) | Familial hypokalemia-hypomagnesemia | |
| | | Deletion (frameshift variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Deletion (frameshift variant) | Fanconi anemia complementation group G | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Duplication (frameshift variant) | Mowat-Wilson syndrome | |
| | | Single nucleotide variant (missense variant) | Lysosomal acid lipase deficiency | |
| | | Deletion (frameshift variant) | Hypohidrotic X-linked ectodermal dysplasia | |
| | LOC130059891, SERPINF1 (L65P) | Single nucleotide variant (missense variant +1 more) | Osteogenesis imperfecta type 6 | |
| | | Deletion (frameshift variant) | Deficiency of alpha-mannosidase | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Neurofibromatosis, type 1 +3 more | |
| | | Duplication (frameshift variant) | DeSanto-Shinawi syndrome due to WAC point mutation | |
| | | Single nucleotide variant (nonsense) | X-linked agammaglobulinemia +1 more | |
| | | Deletion (intron variant) | Pontocerebellar hypoplasia, type 12 | |
| | | Deletion (nonsense) | Neurofibromatosis, type 1 | |
| | | Single nucleotide variant (intron variant +1 more) | 3-Methylglutaconic aciduria type 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 28 | |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome, musculocontractural type 1 | |
| | | Single nucleotide variant (missense variant) | Thyroid dyshormonogenesis 6 +1 more | |
| | | Single nucleotide variant (missense variant) | Thyroid dyshormonogenesis 6 | |
| | | Deletion (frameshift variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Deletion (inframe_deletion) | Lissencephaly due to TUBA1A mutation | |
| | | Single nucleotide variant (missense variant) | Hutchinson-Gilford syndrome | |
| | | Single nucleotide variant (nonsense) | Cholestasis-pigmentary retinopathy-cleft palate syndrome | |
| | | Single nucleotide variant (intron variant) | Mandibulofacial dysostosis-microcephaly syndrome | |
| | | Deletion (frameshift variant) | Coffin-Siris syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Juvenile retinoschisis | |
| | INTU, LOC123480930 (N787fs) | Microsatellite (frameshift variant) | Short-rib thoracic dysplasia 20 with polydactyly +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Gnb5-related intellectual disability-cardiac arrhythmia syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | X-linked Alport syndrome | |
| | KIFBP, LOC130003959 (E45fs) | Duplication (frameshift variant) | Goldberg-Shprintzen syndrome | |
| | | Deletion (frameshift variant) | Bethlem myopathy 1A +2 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form +5 more | |
| | | Microsatellite (frameshift variant) | Carnitine palmitoyl transferase 1A deficiency | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive congenital ichthyosis 5 | |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome +2 more | GPathogenic/Likely pathogenic |
| | CARS1-AS1, LOC126861115
+1 more (A151T +3 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Microcephaly, developmental delay, and brittle hair syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Duplication (frameshift variant) | Hereditary spastic paraplegia 31 +1 more | |
| | CRLF1, LOC112543470 (W257*) | Single nucleotide variant (nonsense) | Cold-induced sweating syndrome 1 | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Severe X-linked myotubular myopathy | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Marshall-Smith syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital multicore myopathy with external ophthalmoplegia +1 more | |
| | | Single nucleotide variant (nonsense) | Deficiency of cytochrome-b5 reductase | |
| | | Single nucleotide variant (missense variant) | Torsion dystonia 4 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 91 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Bilateral frontoparietal polymicrogyria | |
| | | Single nucleotide variant (missense variant) | Early-onset generalized limb-onset dystonia +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Lissencephaly 9 with complex brainstem malformation | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 4 | |
| | UGT1A, UGT1A1
+8 more (V242fs) | Deletion (frameshift variant +1 more) | Gilbert syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Glutaric aciduria, type 1 | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Familial aplasia of the vermis +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Maple syrup urine disease +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lethal polymalformative syndrome, Boissel type | |
| | | Single nucleotide variant (missense variant) | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | |
| | | Single nucleotide variant (nonsense) | Pseudohypoaldosteronism, type IB1, autosomal recessive | |
| | | Single nucleotide variant (intron variant) | Spinocerebellar ataxia type 29 +2 more | |
| | | Deletion (frameshift variant) | Fraser syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2S +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, X-linked 102 +1 more | |