| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | Pyknodysostosis | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive osteopetrosis 8 | |
| | | Single nucleotide variant (missense variant) | Lateral meningocele syndrome | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Acromesomelic dysplasia 1, Maroteaux type | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Parkinsonism with polyneuropathy | |
| | | Single nucleotide variant (missense variant +1 more) | Tay-Sachs disease | |
| | | Single nucleotide variant (missense variant) | Gingival fibromatosis-hypertrichosis syndrome | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder, X-linked, syndromic, Pilorge type | |
| | | Single nucleotide variant (missense variant) | Developmental delay with variable intellectual impairment and behavioral abnormalities | |
| | | Deletion | Colorectal cancer, hereditary nonpolyposis, type 2 | |
| | | Duplication | Developmental and epileptic encephalopathy, 28 | |
| | | Deletion (intron variant) | Gaucher disease type I | |
| | | Single nucleotide variant (missense variant) | Persistent Mullerian duct syndrome | |
| | IDS, LOC106050102 (D162fs +1 more) | Deletion (frameshift variant +1 more) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder, X-linked 112 | |
| | | Single nucleotide variant (nonsense +2 more) | Niemann-Pick disease, type A | |
| | | Deletion | Lynch syndrome 8 | |
| | | Deletion | Lynch syndrome 8 | |
| | | Single nucleotide variant (nonsense +2 more) | Autosomal recessive spinocerebellar ataxia 20 | |
| | | Single nucleotide variant (intron variant) | Neurofibromatosis, type 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-III-A | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 92 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate D | |
| | | Single nucleotide variant (missense variant) | Charcot-marie-tooth disease, axonal, type 2DD | |
| | | Single nucleotide variant (nonsense) | Lowe syndrome | |
| | | Single nucleotide variant (missense variant) | Cataract 6 multiple types | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | ABHD11, ABHD11-AS1
+130 more | Deletion | Williams syndrome | |
| | | Deletion (frameshift variant +1 more) | Long QT syndrome 2 | |
| | SNORD115-26, SNORD115-27
+162 more | Duplication | 15q11q13 microduplication syndrome | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease, adult type | |
| | | Single nucleotide variant (nonsense) | Karyomegalic interstitial nephritis | |
| | | Deletion | Spermatogenic failure 9 | |
| | | Single nucleotide variant (missense variant +2 more) | ZTTK syndrome | |
| | | Single nucleotide variant (missense variant) | Congenital diarrhea 6 | |
| | | Deletion (inframe_indel +2 more) | Niemann-Pick disease, type A | |
| | | Single nucleotide variant (missense variant +1 more) | Type 2 diabetes mellitus | |
| | | Single nucleotide variant (missense variant) | Parenti-mignot neurodevelopmental syndrome | |
| | | Single nucleotide variant (nonsense) | Combined immunodeficiency, X-linked | |
| | | Single nucleotide variant (missense variant) | AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | Oculofaciocardiodental syndrome | |
| | | Single nucleotide variant (missense variant) | Global developmental delay with speech and behavioral abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | Menkes kinky-hair syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | D-Glyceric aciduria | |
| | | Deletion (frameshift variant) | Intellectual disability, autosomal recessive 42 | |
| | | Deletion (frameshift variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1DD | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type II | |
| | | Deletion (inframe_deletion) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (missense variant +3 more) | Joubert syndrome 8 | |
| | IDS, LOC106050102 (A160T +1 more) | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-II | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Smith-Lemli-Opitz syndrome | |
| | | Single nucleotide variant (missense variant) | Nizon-Isidor syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Pilarowski-Bjornsson syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Hurler syndrome | |
| | | Deletion (frameshift variant) | Autosomal recessive nonsyndromic hearing loss 79 | |
| | | Single nucleotide variant (missense variant) | Nizon-Isidor syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 35 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 35 | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with impaired speech and hyperkinetic movements | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with speech impairment and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Benign recurrent intrahepatic cholestasis type 2 | |
| | | Single nucleotide variant (missense variant) | Klippel-Feil syndrome 3, autosomal dominant | |
| | | Single nucleotide variant (splice donor variant) | Kleefstra syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, type 2B2 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder, autosomal dominant 70 | |
| | LOC124403968, LOC124403969
+220 more | Deletion | Intellectual developmental disorder, autosomal dominant 70 | |
| | | Deletion | Laron-type isolated somatotropin defect | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Autosomal recessive polycystic kidney disease +1 more | |
| | CCDC183, CCDC183-AS1 (Q296*) | Single nucleotide variant (non-coding transcript variant +1 more) | See cases | |
| | | Deletion (intron variant) | Galactosylceramide beta-galactosidase deficiency | |
| | | Deletion | Tay-Sachs disease | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Duplication (nonsense +1 more) | Tay-Sachs disease | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 | |
| | | Deletion (frameshift variant) | Glycogen storage disease, type II | |
| | | Microsatellite (frameshift variant) | Glycogen storage disease, type II | |
| | GBA1, LOC106627981 (S149fs +1 more) | Deletion (frameshift variant +1 more) | Gaucher disease type I | |
| | | Duplication | Autism and apraxia | |
| | | Single nucleotide variant (missense variant +1 more) | Leukodystrophy, hypomyelinating, 22 | |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1A | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Neurodevelopmental disorder with hypotonia, seizures, and absent language | |
| | | Single nucleotide variant (missense variant) | Usmani-Riazuddin syndrome, autosomal dominant | |
| | | Single nucleotide variant (splice acceptor variant) | Mucolipidosis type II | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Mucopolysaccharidosis, MPS-II | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder with paroxysmal dyskinesia or seizures | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant Parkinson disease 1 | |
| | | Deletion (frameshift variant) | Seizures, early-onset, with neurodegeneration and brain calcifications | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |
| | | Single nucleotide variant (missense variant +1 more) | Hearing loss, autosomal dominant 71 | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive nonsyndromic hearing loss 59 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Multiple mitochondrial dysfunctions syndrome 4 | |
| | FPGT-TNNI3K, TNNI3K (E464D +1 more) | Single nucleotide variant (missense variant) | Atrial conduction disease | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 45 | |
| | LOC130060903, NAGLU (V32A) | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-III-B | |