| | | Single nucleotide variant (nonsense) | Lethal occipital encephalocele-skeletal dysplasia syndrome | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | Multiple epiphyseal dysplasia type 1 | |
| | | Single nucleotide variant (nonsense) | Asphyxiating thoracic dystrophy 3 | |
| | | Single nucleotide variant (intron variant) | Meckel syndrome, type 5 | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Short-rib thoracic dysplasia 6 with or without polydactyly | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Combined deficiency of sialidase AND beta galactosidase | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 | |
| | | Deletion (frameshift variant) | Split hand-foot malformation 6 | |
| | | Deletion | Koolen-de Vries syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial DNA depletion syndrome 13 | |
| | | Microsatellite (frameshift variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | |
| | | Single nucleotide variant (missense variant) | Cardiac valvular defect, developmental | |
| | | Single nucleotide variant (missense variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | |
| | | Duplication (frameshift variant) | Mitochondrial DNA depletion syndrome 13 | |
| | | Single nucleotide variant (missense variant) | Roberts-SC phocomelia syndrome | |
| | | Single nucleotide variant (nonsense) | Bruck syndrome 2 | |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hydrops fetalis | |
| | GBA1, LOC106627981 (L335fs +2 more) | Deletion (frameshift variant) | Gaucher disease perinatal lethal | |
| | | Single nucleotide variant (missense variant) | Hereditary hemorrhagic telangiectasia +1 more | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | |
| | | Single nucleotide variant (nonsense) | Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | |
| | | Single nucleotide variant (missense variant) | Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | |
| | | Indel (inframe_indel +2 more) | Niemann-Pick disease, type A | |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type A | |
| | | Deletion (frameshift variant +2 more) | Niemann-Pick disease, type A | |
| | | Indel (frameshift variant +2 more) | Niemann-Pick disease, type A | |
| | | Deletion (frameshift variant +1 more) | Niemann-Pick disease, type A | |
| | | Duplication (frameshift variant +2 more) | Niemann-Pick disease, type A | |
| | | Deletion (frameshift variant +2 more) | Niemann-Pick disease, type A | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B +1 more | |
| | | Single nucleotide variant (nonsense +2 more) | Niemann-Pick disease, type A | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Niemann-Pick disease, type A +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type A | |
| | | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type A +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Niemann-Pick disease, type B | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Sphingomyelin/cholesterol lipidosis +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A | |
| | | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type B +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A +1 more | |
| | | Single nucleotide variant (nonsense +2 more) | Niemann-Pick disease, type A | |
| | | Duplication (nonsense) | Chondrodysplasia with joint dislocations, gPAPP type | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive Robinow syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Translocation | Short stature | |
| | | Single nucleotide variant (splice donor variant) | GNPTG-mucolipidosis | |
| | | Deletion (splice acceptor variant) | not provided | |
| | | Duplication (splice acceptor variant +1 more) | Mucolipidosis type II +1 more | |
| | | Deletion (frameshift variant) | Mucolipidosis type II +1 more | |
| | | Deletion (frameshift variant) | Mucolipidosis type II +1 more | |
| | | Indel (nonsense) | Mucolipidosis type II +1 more | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type II +1 more | |
| | | Single nucleotide variant (missense variant) | Mucolipidosis type II +1 more | |
| | | Single nucleotide variant (nonsense) | Mucolipidosis type II +1 more | |
| | | Indel (frameshift variant) | Mucolipidosis type II +1 more | |
| | | Single nucleotide variant (missense variant) | Mucolipidosis type II +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Niemann-Pick disease, type A +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | |
| | | Single nucleotide variant (nonsense +2 more) | Niemann-Pick disease, type C1 +2 more | |
| | | Duplication (frameshift variant +2 more) | Niemann-Pick disease, type A | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Steroid-resistant nephrotic syndrome | |
| | | Single nucleotide variant (missense variant) | Steroid-resistant nephrotic syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Multiple joint contractures +2 more | |
| | | Single nucleotide variant (missense variant) | Arterial calcification, generalized, of infancy, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | ALG3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (intron variant) | Megacolon +1 more | |
| | ZFPM2, ZFPM2-AS1 (K390Q +2 more) | Single nucleotide variant (missense variant) | Diaphragmatic hernia 3 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Diaphragmatic hernia 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Thanatophoric dysplasia type 1 | |
| | | Microsatellite (frameshift variant +1 more) | Atrioventricular septal defect, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | | Osteodysplastic primordial dwarfism, type 1 | |
| | | Single nucleotide variant (nonsense) | Pericardial effusion +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Heart, malformation of +6 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Intellectual disability +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Exudative retinopathy +3 more | |
| | | Single nucleotide variant (missense variant) | Syndromic X-linked intellectual disability Najm type +1 more | |
| | | Microsatellite (inframe_deletion) | Cornelia de Lange syndrome 1 | |
| | | Single nucleotide variant (nonsense +2 more) | Triglyceride storage disease with ichthyosis | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Mucopolysaccharidosis, MPS-III-A | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Mucopolysaccharidosis type 7 | |
| | | Single nucleotide variant (missense variant) | ALG1-congenital disorder of glycosylation | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Global developmental delay +3 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability +1 more | |