| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 | |
| | | Single nucleotide variant (nonsense) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (missense variant) | Shprintzen-Goldberg syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Nephronophthisis 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 36 | |
| | | Single nucleotide variant (missense variant) | Advanced sleep phase syndrome 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Advanced sleep phase syndrome 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inherited Immunodeficiency Diseases +5 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A1 +1 more | |
| | | Single nucleotide variant (nonsense) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Microsatellite (inframe_deletion) | Global developmental delay +4 more | |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (nonsense) | Neural tube defects, folate-sensitive +1 more | |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (missense variant) | Neural tube defects, folate-sensitive +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (missense variant) | Neural tube defects, folate-sensitive +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 | |
| | | Single nucleotide variant (missense variant) | Severe early-onset axonal neuropathy due to MFN2 deficiency | |
| | | Deletion | Bartter disease type 3 | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive spastic paraplegia type 78 | |
| | | Single nucleotide variant (missense variant) | Kufor-Rakeb syndrome | |
| | | Single nucleotide variant (missense variant) | Pheochromocytoma +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (nonsense) | Paragangliomas 4 +7 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Pheochromocytoma | |
| | | Deletion (inframe_indel) | Pheochromocytoma | |
| | | Single nucleotide variant (missense variant) | not specified +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Duplication (frameshift variant) | Hyperprolinemia type 2 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Infantile hypophosphatasia | |
| | HSPG2, LDLRAD2 (P4388fs +1 more) | Deletion (frameshift variant +1 more) | Schwartz-Jampel syndrome type 1 | |
| | | Single nucleotide variant (nonsense) | Schwartz-Jampel syndrome | |
| | | Single nucleotide variant (missense variant) | Schwartz-Jampel syndrome type 1 | |
| | | Single nucleotide variant (intron variant) | Schwartz-Jampel syndrome | |
| | | Single nucleotide variant (missense variant) | Schwartz-Jampel syndrome type 1 | |
| | | Single nucleotide variant (nonsense) | C1Q deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice acceptor variant +1 more) | Fucosidosis | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 14 | |
| | | Single nucleotide variant (nonsense) | AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Elliptocytosis 1 | |
| | | Single nucleotide variant (missense variant) | Elliptocytosis 1 | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | AGO1-related neurodevelopmental disorder +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Combined oxidative phosphorylation deficiency 35 | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 1 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (intron variant +1 more) | Neuronal ceroid lipofuscinosis 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Neuronal ceroid lipofuscinosis 1 | |
| | | Duplication (frameshift variant) | Restrictive dermopathy 1 +4 more | |
| | | Duplication (3 prime UTR variant +1 more) | Osteogenesis imperfecta type 8 +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Osteogenesis imperfecta type 8 | |
| | | Duplication (frameshift variant) | Osteogenesis imperfecta type III | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta type 8 | |
| | | Single nucleotide variant (nonsense) | Congenital amegakaryocytic thrombocytopenia | |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Global developmental delay +2 more | |
| | | Duplication (inframe_insertion) | Craniotubular dysplasia, Ikegawa type | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Familial adenomatous polyposis 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | POMGNT1, TSPAN1 (G286V +2 more) | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | POMGNT1, TSPAN1 (R224H +2 more) | Single nucleotide variant (missense variant) | Intellectual disability +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | |
| | | Single nucleotide variant (missense variant) | Meier-Gorlin syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Rhabdomyolysis +7 more | |
| | | Deletion (frameshift variant) | Bartter disease type 4A +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Familial hypercholesterolemia | |
| | | Single nucleotide variant (splice donor variant) | Developmental and epileptic encephalopathy, 23 | |
| | | Deletion (inframe_indel) | Fetal akinesia deformation sequence 3 | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | RPE65-related recessive retinopathy | |
| | | Single nucleotide variant (missense variant) | Neurofacioskeletal syndrome with or without renal agenesis | |
| | | Deletion (frameshift variant +2 more) | Diamond-Blackfan anemia +3 more | |
| | ABCA4, LOC126805793 (D1613fs) | Deletion (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Dihydropyrimidine dehydrogenase deficiency | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease type III | |
| | | Deletion (frameshift variant) | Glycogen storage disease type III | |
| | | Deletion (frameshift variant +1 more) | Microcephaly 14, primary, autosomal recessive | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Osteogenesis imperfecta type III | |
| | LOC126805822, AMPD2 (R260W +3 more) | Single nucleotide variant (missense variant) | Pontocerebellar hypoplasia type 9 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 32 | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 19/22 | |
| | AP4B1, AP4B1-AS1 (Q226fs +2 more) | Deletion (frameshift variant) | Hereditary spastic paraplegia 47 | |